MVL Vision Panel v21.1 Information
The Vision Panel from Molecular Vision Laboratory is designed to analyze genes linked to inherited eye diseases. These genes have been curated based on the most up-to-date clinical research and literature, ensuring a comprehensive and reliable testing panel. The panel is periodically updated to include clinical and literature advancements, making it the most comprehensive genetic testing panel for inherited eye diseases. Inherited eye disorders are genetically heterogenous, and many similar phenotypes can have very different causes. Testing with MVL Vision Panel provides an efficient way to evaluate multiple genes when clinical symptoms alone cannot pinpoint a diagnosis. By identifying genetic variants, MVL Vision Panel can confirm clinical diagnoses, guide genetic counseling, and assist in developing personalized care plans.
Turnaround time
The typical turnaround time for the Vision Panel is 5-8 weeks. However, we understand that some cases require expedited results. For urgent cases, testing can be completed in as little as 10 days. On average, results are delivered in approximately 5 weeks.
Gene-specific testing
MVL offers unparalleled flexibility in testing. While the full Vision Panel is always available, clients may request analysis and reporting on any combination of genes within the panel. For instance, if only variants in 10 selected genes are of interest, we can focus the report and analysis accordingly.
Parental testing
To support comprehensive analysis, MVL provides complimentary parental testing for patients undergoing Vision Panel testing. We recommend submitting samples from both biological parents at the same time. Parental testing allows for segregation analysis, particularly in cases where a heterozygous pathogenic variant is identified alongside a heterozygous variant of uncertain significance. Determining the phasing of these variants can clarify the genetic diagnosis, which improves diagnostic confidence.
Clinical features
Because of the genetic heterogeneity associated with inherited eye diseases, it is difficult to solely rely on clinical phenotype alone for an accurate diagnosis. Genetic testing plays a vital role in differentiating between cases with similar clinical presentations but distinct genetic causes.
Our Vision Panel stands out compared to whole exome sequencing (WES) and whole genome sequencing (WGS) due to its superior read depth, which enhances the accuracy of variant detection and interpretation, particularly in the case of copy number variant (CNV) detection, where read depth is critical. With a coverage of 1,099 genes associated with inherited eye diseases MVL Vision Panel is the most comprehensive inherited eye disease panel available. The extensive coverage includes genes with established OMIM phenotypes, candidate genes without a currently defined OMIM phenotype, and genes involved in genome-wide association studies (GWAS) related to inherited eye diseases.
Also, please note that the panel includes the mitochondria genome and RPGR exon 15 (RPGR ORF15).
Test Methods
Testing is performed by targeted next-generation sequencing by hybridization capture. Alignment and variant calling are performed using GRCh37, and identified pathogenic variants are confirmed by Sanger. Targeted regions cover all exons, exon-intron boundaries, and relevant deep-intronic regions.
Limitations
Only coding regions, immediately flanking intron sequences, and select designated deep intronic regions are examined. Changes in the promoter region, most deep intronic regions, or other non-coding regions of the gene would not be detected. Multiple exon deletions, multiple exon insertions, and complete deletion of one allele may not be identified using these methods.
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List of genes tested
| Gene | Phenotype |
|---|---|
| AARS2 | Combined oxidative phosphorylation deficiency 8, Leukoencephalopathy, progressive, with ovarian failure |
| AASS | Hyperlysinemia, Saccharopinuria |
| ABAT | GABA-transaminase deficiency |
| ABCA1 | HDL deficiency, familial, 1, Tangier disease |
| ABCA4 | Cone-rod dystrophy 3, Fundus flavimaculatus, Retinal dystrophy, early-onset severe, Retinitis pigmentosa 19, Stargardt disease 1 |
| ABCB6 | Dyschromatosis universalis hereditaria 3, Microphthalmia, isolated, with coloboma 7, Pseudohyperkalemia, familial, 2, due to red cell leak |
| ABCB7 | Anemia, sideroblastic, with ataxia |
| ABCC6 | Arterial calcification, generalized, of infancy, 2, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste |
| ABCD1 | Adrenoleukodystrophy, Adrenomyeloneuropathy, adult |
| ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
| ACACA | Acetyl-CoA carboxylase deficiency |
| ACAD9 | Mitochondrial complex I deficiency, nuclear type 20 |
| ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency of |
| ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency of |
| ACADVL | VLCAD deficiency |
| ACAT1 | Alpha-methylacetoacetic aciduria |
| ACBD5 | Retinal dystrophy with leukodystrophy |
| ACO2 | Optic atrophy 9, Infantile cerebellar-retinal degeneration |
| ADAM9 | Cone-rod dystrophy 9 |
| ADAMTS10 | Weill-Marchesani syndrome 1, recessive |
| ADAMTS17 | Weill-Marchesani 4 syndrome, recessive |
| ADAMTS18 | Microcornea, myopic chorioretinal atrophy, and telecanthus |
| ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type |
| ADAMTSL4 | Ectopia lentis et pupillae, Ectopia lentis, isolated, autosomal recessive |
| ADGRA3 | Recessive Retinitis Pigmentosa from RETNET |
| ADGRV1 | Usher syndrome, type 2C, Usher syndrome, type 2C, GPR98/PDZD7 digenic |
| ADIPOR1 | Retinitis Pigmentosa from RETNET |
| AFG3L2 | Optic atrophy 12, Spastic ataxia 5, autosomal recessive, Spinocerebellar ataxia 28 |
| AGBL5 | Retinitis pigmentosa 75 |
| AGK | Cataract 38, autosomal recessive, Sengers syndrome |
| AGPS | Rhizomelic chondrodysplasia punctata, type 3 |
| AGRN | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects |
| AHI1 | Joubert syndrome 3 |
| AHR | Retinitis pigmentosa 85 |
| AIFM1 | Combined oxidative phosphorylation deficiency 6, Cowchock syndrome, Deafness, X-linked 5 |
| AIPL1 | Cone-rod dystrophy, Leber congenital amaurosis 4, Retinitis pigmentosa, juvenile |
| ALAS2 | Anemia, sideroblastic, 1, Protoporphyria, erythropoietic, X-linked |
| ALDH18A1 | Cutis laxa, autosomal dominant 3, Cutis laxa, autosomal recessive, type IIIA, Spastic paraplegia 9A, autosomal dominant, Spastic paraplegia 9B, autosomal recessive |
| ALDH1A3 | Microphthalmia, isolated 8 |
| ALDH3A2 | Sjogren-Larsson syndrome |
| ALG1 | Congenital disorder of glycosylation, type Ik |
| ALG14 | Myasthenic syndrome, congenital, 15, without tubular aggregates |
| ALG2 | Congenital disorder of glycosylation, type Ii, Myasthenic syndrome, congenital, 14, with tubular aggregates |
| ALMS1 | Alstrom syndrome |
| ALPK1 | ROSAH syndrome |
| AMACR | Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect, congenital, 4 |
| ANKS6 | Nephronophthisis 16 |
| ANO10 | Spinocerebellar ataxia, autosomal recessive 10 |
| ANTXR1 | GAPO syndrome |
| AP3B1 | Hermansky-Pudlak syndrome 2 |
| AP3D1 | Hermansky-Pudlak syndrome 10 |
| AP5Z1 | Spastic paraplegia 48, autosomal recessive |
| APC | Pigmented ocular fundus lesions (POFLS) – for mutations in exons 10 to the proximal portion of exon I5 |
| APOB | Hypobetalipoproteinemia |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| ARHGEF18 | Retinitis pigmentosa 78 |
| ARID1A | Coffin-Siris syndrome 2 |
| ARL13B | Joubert syndrome 8 |
| ARL2 | Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 |
| ARL2BP | Retinitis pigmentosa with or without situs inversus |
| ARL3 | Joubert syndrome 35, Retinitis pigmentosa 83 |
| ARL6 | Retinitis pigmentosa 55, Bardet-Biedl syndrome 3 |
| ARMC9 | Joubert syndrome 30 |
| ARMS2 | Macular degeneration, age-related, 8 |
| ARSG | Usher syndrome, type IV |
| ASB10 | Glaucoma 1, open angle, F |
| ASPH | Traboulsi syndrome |
| ASRGL1 | Retinal degeneration from RETNET |
| ATAD3A | Harel-Yoon syndrome |
| ATF6 | Achromatopsia 7 |
| ATOH1 | Deafness, autosomal dominant 89 |
| ATOH7 | Persistent hyperplastic primary vitreous, autosomal recessive |
| ATP13A2 | Kufor-Rakeb syndrome, Spastic paraplegia 78, autosomal recessive |
| ATP1A3 | Alternating hemiplegia of childhood 2, CAPOS syndrome, Dystonia-12 |
| ATP5F1A | Combined oxidative phosphorylation deficiency 22, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 |
| ATP5F1D | Mitochondrial complex V (ATP synthase) deficiency |
| ATP5F1E | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 |
| ATP7B | Wilson disease |
| ATPAF2 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 |
| AUH | 3-methylglutaconic aciduria, type I |
| B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 |
| B3GALT6 | Ehlers-Danlos syndrome, spondylodysplastic type, 2, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| B3GLCT | Peters-plus syndrome |
| B4GALT7 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 |
| B4GAT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 |
| B9D1 | Meckel syndrome 9, Joubert syndrome 27 |
| B9D2 | Meckel syndrome 10, Joubert syndrome 34 |
| BBIP1 (BBS18) | Bardet-Biedl syndrome 18 |
| BBS1 | Bardet-Biedl syndrome 1 |
| BBS10 | Bardet-Biedl syndrome 10 |
| BBS12 | Bardet-Biedl syndrome 12 |
| BBS2 | Bardet-Biedl syndrome 2, Retinitis pigmentosa 74 |
| BBS4 | Bardet-Biedl syndrome 4 |
| BBS5 | Bardet-Biedl syndrome 5 |
| BBS7 | Bardet-Biedl syndrome 7 |
| BBS9 | Bardet-Biedl syndrome 9 |
| BCKDHA | Maple syrup urine disease, type Ia |
| BCKDHB | Maple syrup urine disease, type Ib |
| BCO1 | Hypercarotenemia and vitamin A deficiency, autosomal dominant |
| BCOR | Microphthalmia, syndromic 2 |
| BCS1L | Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1 |
| BEST1 | Bestrophinopathy, autosomal recessive, Macular dystrophy, vitelliform, 2, Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Retinitis pigmentosa, concentric, Retinitis pigmentosa-50, Vitreoretinochoroidopathy |
| BFSP1 | Cataract 33, multiple types |
| BFSP2 | Cataract 12, multiple types |
| BLOC1S3 | Hermansky-Pudlak syndrome 8 |
| BLOC1S5 | Hermansky-Pudlak syndrome 11 |
| BLOC1S6 | Hermansky-pudlak syndrome 9 |
| BMP4 | Microphthalmia, syndromic 6, Orofacial cleft 11 |
| BMP7 | Developmental eye disorder |
| BOLA3 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia |
| BTD | Biotinidase deficiency |
| BUB1B | Cancer-prone syndrome of premature chromatid separation (PCS syndrome) |
| C12ORF57 | Temtamy syndrome |
| C12ORF65 | MTRFR; Combined oxidative phosphorylation deficiency; Spastic paraplegia 55, autosomal recessive |
| C19ORF12 | Neurodegeneration with brain iron accumulation; Spastic paraplegia 43, autosomal recessive |
| C1QBP | Combined oxidative phosphorylation deficiency 33 |
| C1QTNF5 | Retinal degeneration, late-onset, autosomal dominant |
| C1R | Ehlers-Danlos syndrome, periodontal type, 1 |
| C2CD3 | Orofaciodigital syndrome XIV |
| C8A | C8 deficiency, type I |
| C8B | C8 deficiency, type II |
| C8ORF37 | Bardet-Biedl syndrome 21; Cone-rod dystrophy 16; Retinitis pigmentosa 64 |
| CA4 | Retinitis pigmentosa 17 |
| CA5A | Hyperammonemia due to carbonic anhydrase VA deficiency |
| CABP4 | Cone-rod synaptic disorder, congenital nonprogressive |
| CACNA1A | Epileptic encephalopathy, early infantile, 42, Episodic ataxia, type 2, Migraine, familial hemiplegic, 1, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Spinocerebellar ataxia 6 |
| CACNA1F | Aland Island eye disease, Cone-rod dystrophy, X-linked, 3, Night blindness, congenital stationary (incomplete), 2A, X-linked |
| CACNA2D4 | Retinal cone dystrophy 4 |
| CAPN15 | Oculogastrointestinal neurodevelopmental syndrome |
| CAPN5 | Vitreoretinopathy, neovascular inflammatory |
| CARS2 | Combined oxidative phosphorylation deficiency 27 |
| CASK | FG syndrome 4, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, Mental retardation, with or without nystagmus |
| CBS | Homocystinuria, B6-responsive and nonresponsive types, Thrombosis, hyperhomocysteinemic |
| CC2D2A | COACH syndrome, Joubert syndrome 9, Meckel syndrome 6 |
| CCDC103 | Ciliary dyskinesia, primary, 17 |
| CCDC114 | Ciliary dyskinesia, primary, 20 |
| CCDC28B | Bardet-Biedl syndrome 1, modifier of |
| CCDC39 | Ciliary dyskinesia, primary, 14 |
| CCDC40 | Ciliary dyskinesia, primary, 15 |
| CCND1 | von Hippel-Lindau syndrome, modifier of |
| CCT2 | Leber Congenital Amaurosis |
| CDH23 | Deafness, autosomal recessive 12, Usher syndrome, type 1D, Usher syndrome, type 1D/F digenic |
| CDH3 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy, Hypotrichosis, congenital, with juvenile macular dystrophy |
| CDHR1 | Cone-rod dystrophy 15, Retinitis pigmentosa 65 |
| CDK5RAP2 | Microcephaly 3, primary, autosomal recessive |
| CEP104 | Joubert syndrome 25 |
| CEP120 | Joubert syndrome 31, Short-rib thoracic dysplasia 13 with or without polydactyly |
| CEP164 | Nephronophthisis 15 |
| CEP19 | Bardet-Biedl syndrome |
| CEP250 | Cone-rod dystrophy and hearing loss 2 |
| CEP290 | Bardet-Biedl syndrome 14, Joubert syndrome 5, Leber congenital amaurosis 10, Meckel syndrome 4, Senior-Loken syndrome 6 |
| CEP41 | Joubert syndrome 15 |
| CEP78 | Cone-rod dystrophy and hearing loss |
| CEP83 | Nephronophthisis 18 |
| CERKL | Retinitis pigmentosa 26 |
| CFAP410 | Retinal dystrophy with macular staphyloma, Spondylometaphyseal dysplasia, axial |
| CFH | Basal laminar drusen, Complement factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Macular degeneration, age-related, 4 |
| CHAT | Myasthenic syndrome, congenital, 6, presynaptic |
| CHCHD10 | Myopathy, isolated mitochondrial, autosomal dominant, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela type |
| CHD7 | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia |
| CHD8 | Intellectual developmental disorder with autism and macrocephaly |
| CHKB | Muscular dystrophy, congenital, megaconial type |
| CHM | Choroideremia |
| CHMP4B | Cataract 31, multiple types |
| CHN1 | Duane retraction syndrome 2 |
| CHRNA1 | Multiple pterygium syndrome, lethal type, Myasthenic syndrome, congenital, 1A, slow-channel, Myasthenic syndrome, congenital, 1B, fast-channel |
| CHRNB1 | Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, Myasthenic syndrome, congenital, 2A, slow-channel |
| CHRND | Myasthenic syndrome, congenital, 3A, slow-channel, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, Multiple pterygium syndrome, lethal type, Myasthenic syndrome, congenital, 3B, fast-channel |
| CHRNE | Myasthenic syndrome, congenital, 4A, slow-channel, Myasthenic syndrome, congenital, 4B, fast-channel, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency |
| CHST14 | Ehlers-Danlos syndrome, musculocontractural type 1 |
| CHST6 | Macular corneal dystrophy |
| CIB2 | Deafness, autosomal recessive 48, Usher syndrome, type IJ |
| CISD2 | Wolfram syndrome 2 |
| CLCC1 | Retinitis pigmentosa 32 |
| CLDN19 | Hypomagnesemia 5, renal, with ocular involvement |
| CLEC3B | Macular dystrophy, retinal, 4 |
| CLN3 | Ceroid lipofuscinosis, neuronal, 3 |
| CLN5 | Ceroid lipofuscinosis, neuronal, 5 |
| CLN6 | Ceroid lipofuscinosis, neuronal, 6, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset |
| CLN8 | Ceroid lipofuscinosis, neuronal, 8, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant |
| CLPB | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia |
| CLPP | Perrault syndrome 3 |
| CLRN1 | Retinitis pigmentosa 61, Usher syndrome, type 3A |
| CLUAP1 | Leber congenital amaurosis |
| CNGA1 | Retinitis pigmentosa 49 |
| CNGA3 | Achromatopsia 2 |
| CNGB1 | Retinitis pigmentosa 45 |
| CNGB3 | Achromatopsia 3, Macular degeneration, juvenile |
| CNNM4 | Jalili syndrome |
| COA3 | Mitochondrial complex IV deficiency, nuclear type 14 |
| COA5 | Mitochondrial complex IV, deficiency, nuclear type 9 |
| COA6 | Mitochondrial complex IV deficiency, nuclear type 13 |
| COA7 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |
| COA8 | Mitochondrial complex IV deficiency |
| COG4 | Congenital disorder of glycosylation, type IIj, Saul-Wilson syndrome |
| COG6 | COD2; Congenital disorder of glycosylation, typeIII; Shaheen syndrome |
| COL11A1 | Deafness, autosomal dominant 37, Fibrochondrogenesis 1, Marshall syndrome, Stickler syndrome, type II |
| COL11A2 | Deafness, autosomal dominant 13, Deafness, autosomal recessive 53, Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia, autosomal dominant, Otospondylomegaepiphyseal dysplasia, autosomal recessive |
| COL12A1 | Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| COL13A1 | Myasthenic syndrome, congenital, 19 |
| COL18A1 | Glaucoma, primary closed-angle; Knobloch syndrome, type 1 |
| COL1A1 | Caffey disease, Ehlers-Danlos syndrome, arthrochalasia type, 1, Osteogenesis imperfecta, type I, Osteogenesis imperfecta, type II, Osteogenesis imperfecta, type III, Osteogenesis imperfecta, type IV, Bone mineral density variation QTL, osteoporosis |
| COL1A2 | Ehlers-Danlos syndrome, arthrochalasia type, 2, Ehlers-Danlos syndrome, cardiac valvular type, Osteogenesis imperfecta, type II, Osteogenesis imperfecta, type III, Osteogenesis imperfecta, type IV, Osteoporosis, postmenopausal |
| COL2A1 | Achondrogenesis, type II or hypochondrogenesis, Avascular necrosis of the femoral head, Czech dysplasia, Epiphyseal dysplasia, multiple, with myopia and deafness, Kniest dysplasia, Legg-Calve-Perthes disease, Osteoarthritis with mild chondrodysplasia, Platyspondylic skeletal dysplasia, Torrance type, SED congenita, SMED Strudwick type, Spondyloepiphyseal dysplasia, Stanescu type, Spondyloperipheral dysplasia, Stickler sydrome, type I, nonsyndromic ocular, Stickler syndrome, type I, Vitreoretinopathy with phalangeal epiphyseal dysplasia |
| COL3A1 | Ehlers-Danlos syndrome, vascular type; Polymicrogyria with or without vascular-type EDS |
| COL4A1 | Retinal arteries, tortuosity of, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Brain small vessel disease with or without ocular anomalies, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant |
| COL4A3 | Alport syndrome 2, autosomal recessive, Alport syndrome 3, autosomal dominant, Hematuria, benign familial |
| COL4A4 | Alport syndrome 2, autosomal recessive, Hematuria, familial benign |
| COL4A5 | Alport syndrome 1, X-linked |
| COL5A1 | Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal |
| COL5A2 | Ehlers-Danlos syndrome, classic type, 2 |
| COL9A1 | Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type IV |
| COL9A2 | Stickler syndrome, type V, Epiphyseal dysplasia, multiple, 2 |
| COL9A3 | Epiphyseal dysplasia, multiple, 3, with or without myopathy |
| COLQ | Myasthenic syndrome, congenital, 5 |
| COQ2 | Coenzyme Q10 deficiency, primary, 1 |
| COQ4 | Coenzyme Q10 deficiency, primary, 7 |
| COQ5 | Coenzyme Q10 deficiency, primary, 9 |
| COQ6 | Coenzyme Q10 deficiency, primary, 6 |
| COQ7 | Coenzyme Q10 deficiency, primary, 8 |
| COQ8A | Coenzyme Q10 deficiency, primary, 4 |
| COQ8B | Nephrotic syndrome, type 9 |
| COQ9 | Coenzyme Q10 deficiency, primary, 5 |
| COX10 | Mitochondrial complex IV deficiency, nuclear type 3 |
| COX11 | Mitochondrial complex IV deficiency, nuclear type 23 |
| COX14 | Mitochondrial complex IV deficiency, nuclear type 10 |
| COX15 | Mitochondrial complex IV deficiency, nuclear type 6 |
| COX16 | Mitochondrial complex IV deficiency, nuclear type 22 |
| COX18 | Complex IV deficiency |
| COX20 | Mitochondrial complex IV deficiency, nuclear type 11 |
| COX4I1 | Mitochondrial complex IV deficiency, nuclear type 16 |
| COX4I2 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis |
| COX6A1 | Charcot-Marie-Tooth disease, recessive intermediate D |
| COX6A2 | Mitochondrial complex IV deficiency, nuclear type 18 |
| COX6B1 | Mitochondrial complex IV deficiency, nuclear type 7 |
| COX7B | Linear skin defects with multiple congenital anomalies 2 |
| COX8A | Mitochondrial complex IV deficiency, nuclear type 15 |
| CPAMD8 | Anterior segment dysgenesis 8 |
| CPLANE1 | Joubert syndrome 17, Orofaciodigital syndrome VI |
| CPT1A | CPT deficiency, hepatic, type IA |
| CPT2 | CPT II deficiency, infantile, CPT II deficiency, lethal neonatal, CPT II deficiency, myopathic, stress-induced |
| CRB1 | Leber congenital amaurosis 8, Pigmented paravenous chorioretinal atrophy, Retinitis pigmentosa-12 |
| CRELD1 | Jeffries-Lakhani neurodevelopmental syndrome |
| CRPPA | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 |
| CRX | Cone-rod retinal dystrophy-2, Leber congenital amaurosis 7 |
| CRYAA | Cataract 9, multiple types |
| CRYAB | Cardiomyopathy, dilated, 1II, Cataract 16, multiple types, Myopathy, myofibrillar, 2, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related |
| CRYBA1 | Cataract 10, multiple types |
| CRYBA2 | Cataract 42 |
| CRYBA4 | Cataract 23 |
| CRYBB1 | Cataract 17, multiple types |
| CRYBB2 | Cataract 3, multiple types |
| CRYBB3 | Cataract 22 |
| CRYGB | Cataract 39, multiple types, autosomal dominant |
| CRYGC | Cataract 2, multiple types |
| CRYGD | Cataract 4, multiple types |
| CRYGS | Cataract 20, multiple types |
| CSPP1 | Joubert syndrome 21 |
| CTDP1 | Congenital cataracts, facial dysmorphism, and neuropathy |
| CTNNA1 | Macular dystrophy, patterned, 2 |
| CTNNB1 | Exudative vitreoretinopathy 7, Neurodevelopmental disorder with spastic diplegia and visual defects |
| CTNND1 | Blepharocheilodontic syndrome 2 |
| CTSD | Ceroid lipofuscinosis, neuronal, 10 |
| CTSF | Ceroid lipofuscinosis, neuronal, 13, Kufs type |
| CWC27 | Retinitis pigmentosa with or without skeletal anomalies |
| CYC1 | Mitochondrial complex III deficiency, nuclear type 6 |
| CYCS | Thrombocytopenia 4 |
| CYP1B1 | Anterior segment dysgenesis 6, multiple subtypes, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
| CYP27A1 | Cerebrotendinous xanthomatosis |
| CYP4V2 | Bietti crystalline corneoretinal dystrophy |
| DAG1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 |
| DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation |
| DBT | Maple syrup urine disease, type II |
| DCC | Gaze palsy, familial horizontal, with progressive scoliosis, 2, Mirror movements 1 and/or agenesis of the corpus callosum |
| DCN | Corneal dystrophy, congenital stromal |
| DCT | Oculocutaneous albinism, type VIII |
| DDX58 | Singleton-Merten syndrome 2 |
| DGUOK | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension, noncirrhotic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
| DHCR7 | Smith-Lemli-Opitz syndrome |
| DHDDS | Congenital disorder of glycosylation, type 1bb, Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59 |
| DHX38 | Retinitis pigmentosa 84 |
| DLAT | Pyruvate dehydrogenase E2 deficiency |
| DLD | Dihydrolipoamide dehydrogenase deficiency |
| DMD | Becker muscular dystrophy, Cardiomyopathy, dilated, 3B, Duchenne muscular dystrophy |
| DNA2 | Seckel syndrome 8, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 |
| DNAAF1 | Ciliary dyskinesia, primary, 13 |
| DNAAF2 | Ciliary dyskinesia, primary, 10 |
| DNAAF3 | Ciliary dyskinesia, primary, 2 |
| DNAAF5 | Ciliary dyskinesia, primary, 18 |
| DNAH11 | Ciliary dyskinesia, primary, 7, with or without situs inversus |
| DNAH5 | Ciliary dyskinesia, primary, 3, with or without situs inversus |
| DNAI1 | Ciliary dyskinesia, primary, 1, with or without situs inversus |
| DNAI2 | Ciliary dyskinesia, primary, 9, with or without situs inversus |
| DNAJC19 | 3-methylglutaconic aciduria, type V |
| DNAJC30 | Leber-like hereditary optic neuropathy, autosomal recessive 1 |
| DNAJC5 | Ceroid lipofuscinosis, neuronal, 4, Parry type |
| DNAL1 | Ciliary dyskinesia, primary, 16 |
| DNM1L | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, Optic atrophy 5 |
| DNM2 | Centronuclear myopathy 1, Charcot-Marie-Tooth disease, axonal type 2M, Charcot-Marie-Tooth disease, dominant intermediate B, Lethal congenital contracture syndrome 5 |
| DOCK6 | Adams-Oliver syndrome 2 |
| DOK7 | Fetal akinesia deformation sequence 3, Myasthenic syndrome, congenital, 10 |
| DPAGT1 | Congenital disorder of glycosylation, type Ij, Myasthenic syndrome, congenital, 13, with tubular aggregates |
| DRAM2 | Cone-rod dystrophy 21 |
| DSE | Ehlers-Danlos syndrome, musculocontractural type 2 |
| DTHD1 | Leber congenital amaurosis with myopathy |
| DTNBP1 (BLOC1S8) | Hermansky-Pudlak syndrome 7 |
| DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly |
| EARS2 | Combined oxidative phosphorylation deficiency 12 |
| ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
| EDN3 | Central hypoventilation syndrome, congenital, Waardenburg syndrome, type 4B, Hirschsprung disease, susceptibility to, 4 |
| EDNRB | ABCD syndrome, Waardenburg syndrome, type 4A, Hirschsprung disease, susceptibility to, 2 |
| EFEMP1 | Doyne honeycomb degeneration of retina |
| ELAC2 | Combined oxidative phosphorylation deficiency 17 |
| ELOVL1 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies |
| ELOVL4 | Ichthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia 34, Stargardt disease 3 |
| ELP1 | Dysautonomia, familial |
| ELP4 | Aniridia 2 |
| EMC1 | Cerebellar atrophy, visual impairment, and psychomotor retardation |
| EPHA2 | Cataract 6, multiple types |
| ERAL1 | Perrault syndrome 6 |
| ERCC6 | Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome, type B, De Sanctis-Cacchione syndrome, Premature ovarian failure 11, UV-sensitive syndrome 1 |
| ERCC8 | Cockayne syndrome, type A, UV-sensitive syndrome 2 |
| ESCO2 | Roberts syndrome, SC phocomelia syndrome |
| ESPN | Usher syndrome, type 1M, Deafness, autosomal recessive 36, Deafness, neurosensory, without vestibular involvement, autosomal dominant |
| ETFA | Glutaric acidemia IIA |
| ETFB | Glutaric acidemia IIB |
| ETFDH | Glutaric acidemia IIC |
| ETHE1 | Ethylmalonic encephalopathy |
| EVC | Weyers acrofacial dysostosis, Ellis-van Creveld syndrome |
| EVC2 | Ellis-van Creveld syndrome, Weyers acrofacial dysostosis |
| EXOSC2 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies |
| EYA1 | Otofaciocervical syndrome, Anterior segment anomalies with or without cataract, Branchiootic syndrome 1, Branchiootorenal syndrome 1, with or without cataracts |
| EYS | Retinitis pigmentosa 25 |
| FA2H | Spastic paraplegia 35, autosomal recessive |
| FAM161A | Retinitis pigmentosa 28 |
| FARS2 | Combined oxidative phosphorylation deficiency 14, Spastic paraplegia 77, autosomal recessive |
| FASTKD2 | Combined oxidative phosphorylation deficiency 44 |
| FBLN5 | Cutis laxa, autosomal dominant 2, Cutis laxa, autosomal recessive, type IA, Macular degeneration, age-related, 3, Neuropathy, hereditary, with or without age-related macular degeneration |
| FBN1 | Acromicric dysplasia, Ectopia lentis, familial, Geleophysic dysplasia 2, Marfan lipodystrophy syndrome, Marfan syndrome, MASS syndrome, Stiff skin syndrome, Weill-Marchesani syndrome 2, dominant |
| FBP1 | Fructose-1,6-bisphosphatase deficiency |
| FBXL4 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) |
| FDFT1 | Squalene synthase deficiency |
| FDX2 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy |
| FDXR | Auditory neuropathy and optic atrophy |
| FH | Fumarase deficiency, Leiomyomatosis and renal cell cancer |
| FKBP14 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 |
| FKTN | Cardiomyopathy, dilated, 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 |
| FLAD1 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
| FLNB | Atelosteogenesis, type I, Atelosteogenesis, type III, Boomerang dysplasia, Larsen syndrome, Spondylocarpotarsal synostosis syndrome |
| FLVCR1 | Ataxia, posterior column, with retinitis pigmentosa |
| FOXC1 | Anterior segment dysgenesis 3, multiple subtypes, Axenfeld-Rieger syndrome, type 3 |
| FOXC2 | Lymphedema-distichiasis syndrome, Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus |
| FOXE3 | Anterior segment dysgenesis 2, multiple subtypes, Cataract 34, multiple types |
| FOXRED1 | Mitochondrial complex I deficiency, nuclear type 19 |
| FRAS1 | Fraser syndrome 1 |
| FREM2 | Cryptophthalmos, unilateral or bilateral, isolated, Fraser syndrome 2 |
| FRMD7 | Nystagmus 1, congenital, X-linked, Nystagmus, infantile periodic alternating, X-linked |
| FSCN2 | Retinitis pigmentosa 30 |
| FTL | Hyperferritinemia-cataract syndrome, L-ferritin deficiency, dominant and recessive, Neurodegeneration with brain iron accumulation 3 |
| FXN | Friedreich ataxia, Friedreich ataxia with retained reflexes |
| FYCO1 | Cataract 18, autosomal recessive |
| FZD4 | Exudative vitreoretinopathy 1, Retinopathy of prematurity |
| FZD5 | Microphthalmia/coloboma 11 |
| G6PC | Glycogen storage disease Ia |
| GAA | Glycogen storage disease II |
| GALE | Galactose epimerase deficiency |
| GALK1 | Galactokinase deficiency with cataracts |
| GALM | Galactosemia IV |
| GALT | Galactosemia |
| GAMT | Cerebral creatine deficiency syndrome 2 |
| GAN | Giant axonal neuropathy-1 |
| GARS1 | Charcot-Marie-Tooth disease, type 2D, Neuropathy, distal hereditary motor, type VA |
| GATB | Combined oxidative phosphorylation deficiency 41 |
| GATC | Combined oxidative phosphorylation deficiency 42 |
| GATM | Cerebral creatine deficiency syndrome 3; Fanconi renotubular syndrome 1 |
| GCDH | Glutaricaciduria, type I |
| GCNT2 | Adult i phenotype without cataract, Cataract 13 with adult i phenotype |
| GDAP1 | Charcot-Marie-Tooth disease, axonal, type 2K, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, Charcot-Marie-Tooth disease, recessive intermediate, A, Charcot-Marie-Tooth disease, type 4A |
| GDF1 | Congenital heart defects, multiple types, 6, Right atrial isomerism (Ivemark) |
| GDF3 | Klippel-Feil syndrome 3, autosomal dominant, Microphthalmia with coloboma 6, Microphthalmia, isolated 7 |
| GDF6 | Klippel-Feil syndrome 1, autosomal dominant, Leber congenital amaurosis 17, Microphthalmia with coloboma 6, digenic, Microphthalmia, isolated 4, Multiple synostoses syndrome 4 |
| GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
| GFM1 | Combined oxidative phosphorylation deficiency 1 |
| GFM2 | Combined oxidative phosphorylation deficiency 39 |
| GFPT1 | Myasthenia, congenital, 12, with tubular aggregates |
| GJA1 | Atrioventricular septal defect 3, Craniometaphyseal dysplasia, autosomal recessive, Erythrokeratodermia variabilis et progressiva 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive, Palmoplantar keratoderma with congenital alopecia, Syndactyly, type III |
| GJA3 | Cataract 14, multiple types |
| GJA8 | Cataract 1, multiple types |
| GJB1 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 |
| GJB2 | Bart-Pumphrey syndrome, Deafness, autosomal dominant 3A, Deafness, autosomal recessive 1A, Hystrix-like ichthyosis with deafness, Keratitis-ichthyosis-deafness syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome |
| GJB6 | Deafness, autosomal dominant 3B, Deafness, autosomal recessive 1B, Deafness, digenic GJB2/GJB6, Ectodermal dysplasia 2, Clouston type |
| GJC3 | Deafness |
| GLIS2 | Nephronophthisis 7 |
| GLRX5 | Anemia, sideroblastic, 3, pyridoxine-refractory, Spasticity, childhood-onset, with hyperglycinemia |
| GMPPB | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 |
| GNAT1 | Night blindness, congenital stationary, autosomal dominant 3, Night blindness, congenital stationary, type 1G |
| GNAT2 | Achromatopsia 4 |
| GNB3 | Night blindness, congenital stationary, type 1H |
| GNPAT | Rhizomelic chondrodysplasia punctata, type 2 |
| GNPTG | Mucolipidosis III gamma |
| GNS | Mucopolysaccharidosis type IIID |
| GPR143 | Nystagmus 6, congenital, X-linked, Ocular albinism, type I, Nettleship-Falls type |
| GPR179 | Night blindness, congenital stationary (complete), 1E, autosomal recessive |
| GRIP1 | Fraser syndrome 3 |
| GRK1 | Oguchi disease-2 |
| GRM6 | Night blindness, congenital stationary (complete), 1B, autosomal recessive |
| GRN | Aphasia, primary progressive, Ceroid lipofuscinosis, neuronal, 11, Frontotemporal lobar degeneration with ubiquitin-positive inclusions |
| GTPBP3 | Combined oxidative phosphorylation deficiency 23 |
| GUCA1A | Cone dystrophy-3, Cone-rod dystrophy 14 |
| GUCA1B | Retinitis pigmentosa 48 |
| GUCA1C | Glkaucoma |
| GUCY2D | Choroidal dystrophy, central areolar 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1, Night blindness, congenital stationary, type 1I |
| GYS2 | Glycogen storage disease 0, liver |
| GZF1 | Joint laxity, short stature, and myopia |
| HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency, Hyperinsulinemic hypoglycemia, familial, 4 |
| HADHA | Fatty liver, acute, of pregnancy, HELLP syndrome, maternal, of pregnancy, LCHAD deficiency, Trifunctional protein deficiency; Mitochondrial trifunctional protein deficiency 1 |
| HADHB | Mitochondrial trifunctional protein deficiency |
| HARS1 | Charcot-Marie-Tooth disease, axonal, type 2W, Usher syndrome type 3B |
| HARS2 | Perrault syndrome 2 |
| HCCS | Linear skin defects with multiple congenital anomalies 1 |
| HCN1 | Epileptic encephalopathy, early infantile, 24, Generalized epilepsy with febrile seizures plus, type 10 |
| HESX1 | Growth hormone deficiency with pituitary anomalies, Pituitary hormone deficiency, combined, 5, Septooptic dysplasia |
| HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C), Retinitis pigmentosa 73 |
| HIBCH | 3-hydroxyisobutryl-CoA hydrolase deficiency |
| HK1 | Hemolytic anemia due to hexokinase deficiency, Neurodevelopmental disorder with visual defects and brain anomalies, Neuropathy, hereditary motor and sensory, Russe type, Retinitis pigmentosa 79 |
| HKDC1 | Retinitis pigmentosa 92 |
| HLCS | Holocarboxylase synthetase deficiency |
| HMCN1 | Macular degeneration, age-related, 1 |
| HMGB3 | Microphthalmia, syndromic 13 |
| HMGCL | HMG-CoA lyase deficiency |
| HMGCS2 | HMG-CoA synthase-2 deficiency |
| HMX1 | Oculoauricular syndrome |
| HPS1 | Hermansky-Pudlak syndrome 1 |
| HPS3 | Hermansky-Pudlak syndrome 3 |
| HPS4 | Hermansky-Pudlak syndrome 4 |
| HPS5 | Hermansky-Pudlak syndrome 5 |
| HPS6 | Hermansky-Pudlak syndrome 6 |
| HSD17B10 | HSD10 mitochondrial disease |
| HSF4 | Cataract 5, multiple types |
| HSPD1 | Leukodystrophy, hypomyelinating, 4, Spastic paraplegia 13, autosomal dominant |
| HTRA1 | CARASIL syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, Macular degeneration, age-related, 7, Macular degeneration, age-related, neovascular type |
| HTRA2 | 3-methylglutaconic aciduria, type VIII, Parkinson disease 13 |
| HYLS1 | Hydrolethalus syndrome |
| IARS1 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy |
| IARS2 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
| IBA57 | Spastic paraplegia 74, autosomal recessive, Multiple mitochondrial dysfunctions syndrome 3 |
| IDH3A | Retinitis pigmentosa 90 |
| IDH3B | Retinitis pigmentosa 46 |
| IDUA | Mucopolysaccharidosis Ih, Mucopolysaccharidosis Ih/s, Mucopolysaccharidosis Is |
| IFT122 | Cranioectodermal dysplasia 1 |
| IFT140 | Retinitis pigmentosa 80, Short-rib thoracic dysplasia 9 with or without polydactyly |
| IFT172 | Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| IFT27 | Bardet-Biedl syndrome 19 |
| IFT43 | Cranioectodermal dysplasia 3, Retinitis pigmentosa 81, Short-rib thoracic dysplasia 18 with polydactyly |
| IFT52 | Short-rib thoracic dysplasia 16 with or without polydactyly |
| IFT54 | Senior-Loken syndrome 9 |
| IFT74 | Bardet-Biedl syndrome 20, Joubert syndrome 40, Spermatogenic failure 58 |
| IFT80 | Short-rib thoracic dysplasia 2 with or without polydactyly |
| IFT81 | Short-rib thoracic dysplasia 19 with or without polydactyly |
| IMPDH1 | Leber congenital amaurosis 11, Retinitis pigmentosa 10 |
| IMPG1 | Macular dystrophy, vitelliform, 4, Retinitis pigmentosa 91 |
| IMPG2 | Macular dystrophy, vitelliform, 5, Retinitis pigmentosa 56 |
| INPP5E | Joubert syndrome 1, Mental retardation, truncal obesity, retinal dystrophy, and micropenis |
| INTS1 | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| INVS | Nephronophthisis 2, infantile |
| IQCB1 | Senior-Loken syndrome 5 |
| ISCA1 | Multiple mitochondrial dysfunctions syndrome 5 |
| ISCA2 | Multiple mitochondrial dysfunctions syndrome 4 |
| ISCU | Myopathy with lactic acidosis, hereditary |
| ITM2B | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, Dementia, familial British, Dementia, familial Danish |
| JAG1 | Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome 1, Tetralogy of Fallot |
| JAM3 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts |
| KARS1 | Charcot-Marie-Tooth disease, recessive intermediate, B, Deafness, autosomal recessive 89, Leukoencephalopathy, progressive, infantile-onset, with or without deafness, Deafness, congenital, and adult-onset progressive leukoencephalopathy |
| KCNJ13 | Leber congenital amaurosis 16, Snowflake vitreoretinal degeneration |
| KCNV2 | Retinal cone dystrophy 3B |
| KCTD7 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions |
| KERA | Cornea plana 2, autosomal recessive |
| KIAA0556 | Joubert syndrome 26 |
| KIAA0586 | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| KIAA1549 | Retinitis pigmentosa 86 |
| KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
| KIF1A | Mental retardation, autosomal dominant 9, Neuropathy, hereditary sensory, type IIC, Spastic paraplegia 30, autosomal recessive |
| KIF3B | Retinitis pigmentosa 89 |
| KIF7 | Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome 2, Acrocallosal syndrome, Joubert syndrome 12 |
| KIZ | Retinitis pigmentosa 69 |
| KLC2 | Spastic paraplegia, optic atrophy, and neuropathy |
| KLHL7 | Cold-induced sweating syndrome 3, Retinitis pigmentosa 42 |
| LAMA1 | Poretti-Boltshauser syndrome |
| LAMA5 | Bent bone dysplasia syndrome 2, Nephrotic syndrome, type 26 |
| LAMB2 | Nephrotic syndrome, type 5, with or without ocular abnormalities, Pierson syndrome |
| LAMP2 | Danon disease |
| LARGE1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 |
| LARS1 | Infantile liver failure syndrome 1 |
| LARS2 | Hydrops, lactic acidosis, and sideroblastic anemia, Perrault syndrome 4 |
| LCA5 | Leber congenital amaurosis 5 |
| LCT | Lactase deficiency, congenital |
| LDLR | Hypercholesterolemia, familial, 1, LDL cholesterol level QTL2 |
| LIAS | Hyperglycinemia, lactic acidosis, and seizures |
| LIM2 | Cataract 19, multiple types |
| LIPT1 | Lipoyltransferase 1 deficiency |
| LIPT2 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities |
| LONP1 | CODAS syndrome |
| LOXL1 | Exfoliation syndrome, susceptibility to |
| LOXL3 | Myopia 28, autosomal recessive |
| LRAT | Leber congenital amaurosis 14, Retinal dystrophy, early-onset severe, Retinitis pigmentosa, juvenile |
| LRIT3 | Night blindness, congenital stationary (complete), 1F, autosomal recessive |
| LRMDA | Albinism, oculocutaneous, type VII |
| LRP2 | Donnai-Barrow syndrome |
| LRP4 | Myasthenic syndrome, congenital, 17, Cenani-Lenz syndactyly syndrome, Sclerosteosis 2 |
| LRP5 | Exudative vitreoretinopathy 4, Hyperostosis, endosteal, Osteopetrosis, autosomal dominant 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Polycystic liver disease 4 with or without kidney cysts, van Buchem disease, type 2, Bone mineral density variability 1, Osteoporosis |
| LRPPRC | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) |
| LRRC32 | Cleft palate, proliferative retinopathy, and developmental delay |
| LRRC6 | Ciliary dyskinesia, primary, 19 |
| LTBP2 | Weill-Marchesani syndrome 3, recessive, Glaucoma 3, primary congenital, D, Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma |
| LTBP3 | Dental anomalies and short stature, Geleophysic dysplasia 3 |
| LYRM4 | Combined oxidative phosphorylation deficiency 19 |
| LYRM7 | Mitochondrial complex III deficiency, nuclear type 8 |
| LYST | Chediak-Higashi syndrome |
| LZTFL1 | Bardet-Biedl syndrome 17 |
| MAB21L1 | Cerebellar, ocular, craniofacial, and genital syndrome |
| MAB21L2 | Microphthalmia/coloboma and skeletal dysplasia syndrome |
| MACF1 | Lissencephaly 9 with complex brainstem malformation |
| MAF | Ayme-Gripp syndrome, Cataract 21, multiple types |
| MAK | Retinitis pigmentosa 62 |
| MAN2B1 | Mannosidosis, alpha-, types I and II |
| MAPKAPK3 | Macular dystrophy, patterned, 3 |
| MAPKBP1 | Nephronophthisis 20 |
| MARS2 | Combined oxidative phosphorylation deficiency 25, Spastic ataxia 3, autosomal recessive |
| MASP1 | 3MC syndrome 1 |
| MASP2 | MASP2 deficiency |
| MCAT | Optic atrophy 15 |
| MDH2 | Developmental and epileptic encephalopathy, , 51 |
| MECR | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; Optic atrophy 16 |
| MERTK | Retinitis pigmentosa 38 |
| MFF | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
| MFN2 | Charcot-Marie-Tooth disease, axonal, type 2A2A, Charcot-Marie-Tooth disease, axonal, type 2A2B, Hereditary motor and sensory neuropathy VIA |
| MFRP | Microphthalmia, isolated 5, Nanophthalmos 2 |
| MFSD8 | Ceroid lipofuscinosis, neuronal, 7, Macular dystrophy with central cone involvement |
| MGME1 | Mitochondrial DNA depletion syndrome 11 |
| MICOS13 | Combined oxidative phosphorylation deficiency 37 |
| MICU1 | Myopathy with extrapyramidal signs |
| MIEF1 | Optic atrophy 14 |
| MIP | Cataract 15, multiple types |
| MIPEP | Combined oxidative phosphorylation deficiency 31 |
| MIR204 | Retinal dystrophy and iris coloboma with or without cataract |
| MITF | COMMAD syndrome, Tietz albinism-deafness syndrome, Waardenburg syndrome, type 2A, Waardenburg syndrome/ocular albinism, digenic, Melanoma, cutaneous malignant, susceptibility to, 8 |
| Mitochondria genome | |
| MKKS | Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome |
| MKS1 | Bardet-Biedl syndrome 13, Joubert syndrome 28, Meckel syndrome 1 |
| MLPH | Griscelli syndrome, type 3 |
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type |
| MORC2 | Charcot-Marie-Tooth disease, axonal, type 2Z |
| MPC1 | Mitochondrial pyruvate carrier deficiency |
| MPV17 | Charcot-Marie-Tooth disease, axonal, type 2EE, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) |
| MRM2 | Mitochondrial DNA depletion syndrome 17 |
| MRPL12 | Combined oxidative phosphorylation deficiency 45 |
| MRPL3 | Combined oxidative phosphorylation deficiency 9 |
| MRPL44 | Combined oxidative phosphorylation deficiency 16 |
| MRPS14 | Combined oxidative phosphorylation deficiency 38 |
| MRPS16 | Combined oxidative phosphorylation deficiency 2 |
| MRPS2 | Combined oxidative phosphorylation deficiency 36 |
| MRPS22 | Combined oxidative phosphorylation deficiency 5, Ovarian dysgenesis 7 |
| MRPS23 | Combined oxidative phosphorylation deficiency 46 |
| MRPS34 | Combined oxidative phosphorylation deficiency 32 |
| MRPS7 | Combined oxidative phosphorylation deficiency 34 |
| MSTO1 | Myopathy, mitochondrial, and ataxia |
| MTFMT | Combined oxidative phosphorylation deficiency 15, Mitochondrial complex I deficiency, nuclear type 27 |
| MTO1 | Combined oxidative phosphorylation deficiency 10 |
| MTPAP | Spastic ataxia 4, autosomal recessive |
| MTTP | Abetalipoproteinemia |
| MUSK | Fetal akinesia deformation sequence 1, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency |
| MVK | Hyper-IgD syndrome, Mevalonic aciduria, Porokeratosis 3, multiple types |
| MYH9 | Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| MYO5A | Griscelli syndrome, type 1 |
| MYO7A | Deafness, autosomal dominant 11, Deafness, autosomal recessive 2, Usher syndrome, type 1B |
| MYO9A | Myasthenic syndrome, congenital, 24, presynaptic |
| MYOC | Glaucoma 1A, primary open angle |
| NAA10 | Microphthalmia, syndromic 1, Ogden syndrome |
| NADK2 | 2,4-dienoyl-CoA reductase deficiency |
| NARS2 | Deafness, autosomal recessive 94, Combined oxidative phosphorylation deficiency 24 |
| NAXE | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy |
| NBAS | Infantile liver failure syndrome 2, Short stature, optic nerve atrophy, and Pelger-Huet anomaly |
| NDP | Exudative vitreoretinopathy 2, X-linked, Norrie disease |
| NDUFA1 | Mitochondrial complex I deficiency, nuclear type 12 |
| NDUFA10 | Mitochondrial complex I deficiency, nuclear type 22 |
| NDUFA11 | Mitochondrial complex I deficiency, nuclear type 14 |
| NDUFA12 | Mitochondrial complex I deficiency, nuclear type 23 |
| NDUFA13 | Mitochondrial complex I deficiency, nuclear type 28, Thyroid carcinoma, Hurthle cell |
| NDUFA2 | Mitochondrial complex I deficiency, nuclear type 13 |
| NDUFA4 | Mitochondrial complex IV deficiency, nuclear type 21 |
| NDUFA6 | Mitochondrial complex I deficiency, nuclear type 33 |
| NDUFA8 | Mitochondrial complex I deficiency, nuclear type 37 |
| NDUFA9 | Mitochondrial complex I deficiency, nuclear type 26 |
| NDUFAF1 | Mitochondrial complex I deficiency, nuclear type 11 |
| NDUFAF2 | Mitochondrial complex I deficiency, nuclear type 10 |
| NDUFAF3 | Mitochondrial complex I deficiency, nuclear type 18 |
| NDUFAF4 | Mitochondrial complex I deficiency, nuclear type 15 |
| NDUFAF5 | Mitochondrial complex I deficiency, nuclear type 16 |
| NDUFAF6 | Mitochondrial complex I deficiency, nuclear type 17 |
| NDUFAF8 | Mitochondrial complex I deficiency, nuclear type 34 |
| NDUFB11 | Mitochondrial complex I deficiency, nuclear type 30, Linear skin defects with multiple congenital anomalies 3 |
| NDUFB3 | Mitochondrial complex I deficiency, nuclear type 25 |
| NDUFB8 | Mitochondrial complex I deficiency, nuclear type 32 |
| NDUFB9 | Mitochondrial complex I deficiency, nuclear type 24 |
| NDUFS1 | Mitochondrial complex I deficiency, nuclear type 5 |
| NDUFS2 | Mitochondrial complex I deficiency, nuclear type 6 |
| NDUFS3 | Mitochondrial complex I deficiency, nuclear type 8 |
| NDUFS4 | Mitochondrial complex I deficiency, nuclear type 1 |
| NDUFS6 | Mitochondrial complex I deficiency, nuclear type 9 |
| NDUFS7 | Mitochondrial complex I deficiency, nuclear type 3 |
| NDUFS8 | Mitochondrial complex I deficiency, nuclear type 2 |
| NDUFV1 | Mitochondrial complex I deficiency, nuclear type 4 |
| NDUFV2 | Mitochondrial complex I deficiency, nuclear type 7 |
| NEFH | Amyotrophic lateral sclerosis, susceptibility to, Charcot-Marie-Tooth disease, axonal, type 2CC |
| NEK1 | Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis, susceptibility to, 24 |
| NEK2 | Retinitis pigmentosa 67 |
| NEK8 | Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2 |
| NEUROD1 | Maturity-onset diabetes of the young 6, Diabetes mellitus, noninsulin-dependent |
| NF2 | Meningioma, NF2-related, somatic, Neurofibromatosis, type 2, Schwannomatosis, somatic |
| NFS1 | Combined oxidative phosphorylation deficiency 52 |
| NFU1 | Multiple mitochondrial dysfunctions syndrome 1 |
| NHS | Cataract 40, X-linked, Nance-Horan syndrome |
| NKX2-5 | Atrial septal defect 7, with or without AV conduction defects, Conotruncal heart malformations, variable, Hypoplastic left heart syndrome 2, Hypothyroidism, congenital nongoitrous, 5, Tetralogy of Fallot, Ventricular septal defect 3 |
| NME8 | Ciliary dyskinesia, primary, 6 |
| NMNAT1 | Leber congenital amaurosis 9 |
| NOD2 | Blau syndrome, Inflammatory bowel disease 1, Crohn disease, Psoriatic arthritis, susceptibility to, Yao syndrome |
| NODAL | Heterotaxy, visceral, 5 |
| NOTCH2 | Alagille syndrome 2, Hajdu-Cheney syndrome |
| NOTCH3 | Myofibromatosis, infantile 2, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, Lateral meningocele syndrome |
| NPHP1 | Joubert syndrome 4, Nephronophthisis 1, juvenile, Senior-Loken syndrome-1 |
| NPHP3 | Meckel syndrome 7, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1 |
| NPHP4 | Nephronophthisis 4, Senior-Loken syndrome 4 |
| NR2E3 | Enhanced S-cone syndrome, Retinitis pigmentosa 37 |
| NR2F1 | Bosch-Boonstra-Schaaf optic atrophy syndrome |
| NRL | Retinal degeneration, autosomal recessive, clumped pigment type, Retinitis pigmentosa 27 |
| NSUN3 | Combined oxidative phosphorylation deficiency 48 |
| NTF4 | Glaucoma 1, open angle, 1O |
| NUBPL | Mitochondrial complex I deficiency, nuclear type 21 |
| NYX | Night blindness, congenital stationary (complete), 1A, X-linked |
| OAT | Gyrate atrophy of choroid and retina with or without ornithinemia |
| OCA2 | Albinism, brown oculocutaneous, Albinism, oculocutaneous, type II, Skin/hair/eye pigmentation 1, blond/brown hair, Skin/hair/eye pigmentation 1, blue/nonblue eyes |
| OCRL | Dent disease 2, Lowe syndrome |
| OFD1 | Retinitis pigmentosa 23, Joubert syndrome 10, Orofaciodigital syndrome I, Simpson-Golabi-Behmel syndrome, type 2 |
| OPA1 | Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), Behr syndrome, Optic atrophy 1, Optic atrophy plus syndrome, Glaucoma, normal tension, susceptibility to |
| OPA3 | 3-methylglutaconic aciduria, type III, Optic atrophy 3 with cataract |
| OPA5 | Optic atrophy 5 |
| OPN1LW | Blue cone monochromacy, Colorblindness, protan |
| OPN1MW | Blue cone monochromacy, Colorblindness, deutan |
| OPN1SW | Colorblindness, tritan |
| OPTN | Amyotrophic lateral sclerosis 12, Glaucoma 1, open angle, E, Glaucoma, normal tension, susceptibility to |
| OTC | Ornithine transcarbamylase deficiency |
| OTOGL | Deafness, autosomal recessive 84B |
| OTX2 | Microphthalmia, syndromic 5, Pituitary hormone deficiency, combined, 6, Retinal dystrophy, early-onset, with or without pituitary dysfunction |
| P3H2 | Myopia, high, with cataract and vitreoretinal degeneration |
| PANK2 | HARP syndrome, Neurodegeneration with brain iron accumulation 1 |
| PARS2 | Epileptic encephalopathy, early infantile, 75 |
| PAX2 | Glomerulosclerosis, focal segmental, 7, Papillorenal syndrome |
| PAX3 | Craniofacial-deafness-hand syndrome, Rhabdomyosarcoma 2, alveolar, Waardenburg syndrome, type 1, Waardenburg syndrome, type 3 |
| PAX6 | Coloboma of optic nerve, Coloboma, ocular, Morning glory disc anomaly, Aniridia, Anterior segment dysgenesis 5, multiple subtypes, Cataract with late-onset corneal dystrophy, Foveal hypoplasia 1, Keratitis, Optic nerve hypoplasia |
| PC | Pyruvate carboxylase deficiency |
| PCARE | Retinitis pigmentosa 54 |
| PCCA | Propionicacidemia |
| PCCB | Propionicacidemia |
| PCDH15 | Deafness, autosomal recessive 23, Usher syndrome, type 1D/F digenic, Usher syndrome, type 1F |
| PCK2 | PEPCK deficiency, mitochondrial |
| PCLO | Pontocerebellar hypoplasia, type 3 |
| PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy |
| PDE6A | Retinitis pigmentosa 43 |
| PDE6B | Night blindness, congenital stationary, autosomal dominant 2, Retinitis pigmentosa-40 |
| PDE6C | Cone dystrophy 4 |
| PDE6D | Joubert syndrome 22 |
| PDE6G | Retinitis pigmentosa 57 |
| PDE6H | Achromatopsia 6, Retinal cone dystrophy 3 |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency |
| PDHB | Pyruvate dehydrogenase E1-beta deficiency |
| PDHX | Lacticacidemia due to PDX1 deficiency |
| PDP1 | Pyruvate dehydrogenase phosphatase deficiency |
| PDSS1 | Coenzyme Q10 deficiency, primary, 2 |
| PDSS2 | Coenzyme Q10 deficiency, primary, 3 |
| PDX1 | MODY, type IV, Pancreatic agenesis 1, Diabetes mellitus, type II, susceptibility to |
| PDXK | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy |
| PDZD7 | Deafness, autosomal recessive 57, Usher syndrome, type IIC, GPR98/PDZD7 digenic, Retinal disease in Usher syndrome type IIA, modifier of |
| PET100 | Mitochondrial complex IV deficiency |
| PET117 | Mitochondrial complex IV deficiency, nuclear type 19 |
| PEX1 | Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B (NALD/IRD) |
| PEX10 | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B |
| PEX11B | Peroxisome biogenesis disorder 14B |
| PEX12 | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3B |
| PEX13 | Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11B |
| PEX14 | Peroxisome biogenesis disorder 13A (Zellweger) |
| PEX16 | Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8B |
| PEX19 | Peroxisome biogenesis disorder 12A (Zellweger) |
| PEX2 | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B |
| PEX26 | Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B |
| PEX3 | Peroxisome biogenesis disorder 10B, Peroxisome biogenesis disorder 10A (Zellweger) |
| PEX5 | Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B, Rhizomelic chondrodysplasia punctata, type 5 |
| PEX6 | Heimler syndrome 2, Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B |
| PEX7 | Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata, type 1 |
| PGK1 | Phosphoglycerate kinase 1 deficiency |
| PHYH | Refsum disease |
| PIBF1 | Joubert syndrome 33 |
| PITPNM3 | Cone-rod dystrophy 5 |
| PITRM1 | Spinocerebellar ataxia, autosomal recessive 30 |
| PITX2 | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome, type 1, Ring dermoid of cornea |
| PITX3 | Anterior segment dysgenesis 1, multiple subtypes, Cataract 11, multiple types, Cataract 11, syndromic, autosomal recessive |
| PLA2G5 | Fleck retina, familial benign |
| PLA2G6 | Infantile neuroaxonal dystrophy 1, Neurodegeneration with brain iron accumulation 2B, Parkinson disease 14, autosomal recessive |
| PLEC | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with muscular dystrophy, Epidermolysis bullosa simplex with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, Muscular dystrophy, limb-girdle, autosomal recessive 17 |
| PLK4 | Microcephaly and chorioretinopathy, autosomal recessive, 2 |
| PLOD1 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 |
| PLOD3 | Lysyl hydroxylase 3 deficiency |
| PMP22 | Neuropathy, inflammatory demyelinating, Charcot-Marie-Tooth disease, type 1A, Charcot-Marie-Tooth disease, type 1E, Dejerine-Sottas disease, Neuropathy, recurrent, with pressure palsies, Roussy-Levy syndrome |
| PMPCA | Spinocerebellar ataxia, autosomal recessive 2 |
| PMPCB | Multiple mitochondrial dysfunctions syndrome 6 |
| PNPLA2 | Neutral lipid storage disease with myopathy |
| PNPLA6 | Laurence-Moon syndrome, Boucher-Neuhauser syndrome, Oliver-McFarlane syndrome, Spastic paraplegia 39, autosomal recessive |
| PNPLA8 | Mitochondrial myopathy with lactic acidosis |
| PNPT1 | Combined oxidative phosphorylation deficiency 13, Deafness, autosomal recessive 70, spinocerebellar ataxia 25 |
| POC1B | Cone-rod dystrophy 20 |
| POLG | Mitochondrial DNA depletion syndrome 4A (Alpers type), Mitochondrial DNA depletion syndrome 4B (MNGIE type), Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Progressive external ophthalmoplegia, autosomal dominant 1, Progressive external ophthalmoplegia, autosomal recessive 1 |
| POLG2 | Mitochondrial DNA depletion syndrome 16 (hepatic type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
| POLRMT | Combined oxidative phosphorylation deficiency 55 |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, Retinitis pigmentosa 76 |
| POMGNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 |
| POMK | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 |
| POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
| POMT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 |
| PORCN | Focal dermal hypoplasia |
| PPA2 | Sudden cardiac failure, alcohol-induced, Sudden cardiac failure, infantile |
| PPT1 | Ceroid lipofuscinosis, neuronal, 1 |
| PRCD | Retinitis pigmentosa 36 |
| PRDM13 | Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, Pontocerebellar hypoplasia, type 17 |
| PRDM5 | Brittle cornea syndrome 2 |
| PREPL | Myasthenic syndrome, congenital, 22 |
| PRICKLE3 | Leber hereditary optic neuropathy, modifier of |
| PROM1 | Cone-rod dystrophy 12, Macular dystrophy, retinal, 2, Retinitis pigmentosa 41, Stargardt disease 4 |
| PROS1 | Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency, autosomal recessive |
| PRPF3 | Retinitis pigmentosa 18 |
| PRPF31 | Retinitis pigmentosa 11 |
| PRPF4 | Retinitis pigmentosa 70 |
| PRPF6 | Retinitis pigmentosa 60 |
| PRPF8 | Retinitis pigmentosa 13 |
| PRPH2 | Choroidal dystrophy, central areolar 2, Leber congenital amaurosis 18, Macular dystrophy, patterned, 1, Macular dystrophy, vitelliform, 3, Retinitis pigmentosa 7 and digenic form, Retinitis punctata albescens |
| PRPS1 | Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1, Gout, PRPS-related, Phosphoribosylpyrophosphate synthetase superactivity |
| PRR12 | Neuroocular syndrome |
| PRSS56 | Microphthalmia, isolated 6 |
| PTCD3 | Combined oxidative phosphorylation deficiency 51 |
| PTCH1 | Basal cell carcinoma, somatic, Basal cell nevus syndrome, Holoprosencephaly 7 |
| PUS1 | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| PXDN | Anterior segment dysgenesis 7, with sclerocornea |
| PYGM | McArdle disease |
| QARS1 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy |
| QRSL1 | Combined oxidative phosphorylation deficiency 40 |
| RAB18 | Warburg micro syndrome 3 |
| RAB27A | Griscelli syndrome, type 2 |
| RAB28 | Cone-rod dystrophy 18 |
| RAB3GAP1 | Warburg micro syndrome 1 |
| RAB3GAP2 | Martsolf syndrome, Warburg micro syndrome 2 |
| RAPSN | Fetal akinesia deformation sequence 2, Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency |
| RARB | Microphthalmia, syndromic 12 |
| RARS1 | Leukodystrophy, hypomyelinating, 9 |
| RARS2 | Pontocerebellar hypoplasia, type 6 |
| RAX | Microphthalmia, isolated 3 |
| RAX2 | Macular degeneration, age-related, 6, Cone-rod dystrophy 11, Retinitis pigmentosa 95 |
| RB1 | Bladder cancer, somatic, Osteosarcoma, somatic, Retinoblastoma, Retinoblastoma, trilateral, Small cell cancer of the lung, somatic |
| RBP3 | Retinitis pigmentosa 66 |
| RBP4 | Microphthalmia, isolated, with coloboma 10, Retinal dystrophy, iris coloboma, and comedogenic acne syndrome |
| RCBTB1 | Retinal dystrophy with or without extraocular anomalies |
| RCD1 | Retinal cone dystrophy-1 |
| RD3 | Leber congenital amaurosis 12 |
| RDH11 | Retinal dystrophy, juvenile cataracts, and short stature syndrome |
| RDH12 | Leber congenital amaurosis 13 |
| RDH5 | Fundus albipunctatus |
| RECQL4 | Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome, type 2, |
| REEP1 | Neuronopathy, distal hereditary motor, type VB, Spastic paraplegia 31, autosomal dominant |
| REEP6 | Retinitis pigmentosa 77 |
| RERE | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
| RGR | Retinitis pigmentosa 44 |
| RGS9 | Bradyopsia, 1 |
| RGS9BP | Bradyopsia, 2 |
| RHO | Night blindness, congenital stationary, autosomal dominant 1, Retinitis pigmentosa 4, autosomal dominant or recessive, Retinitis punctata albescens |
| RIMS2 | Cone-rod synaptic disorder syndrome, congenital nonprogressive |
| RLBP1 | Bothnia retinal dystrophy, Fundus albipunctatus, Newfoundland rod-cone dystrophy, Retinitis punctata albescens |
| RMND1 | Combined oxidative phosphorylation deficiency 11 |
| RNANC | Persistent hyperplastic primary vitreous, autosomal recessive |
| RNASEH1 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
| ROM1 | Retinitis pigmentosa 7, digenic form |
| RP1 | Retinitis pigmentosa 1 |
| RP1L1 | Occult macular dystrophy, Retinitis pigmentosa 88 |
| RP2 | Retinitis pigmentosa 2 |
| RP9 | Retinitis pigmentosa 9 |
| RPE65 | Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinitis pigmentosa 87 with choroidal involvement |
| RPGR | Cone-rod dystrophy, X-linked, 1, Macular degeneration, X-linked atrophic, Retinitis pigmentosa 3, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness |
| RPGRIP1 | Cone-rod dystrophy 13, Leber congenital amaurosis 6 |
| RPGRIP1L | COACH syndrome, Joubert syndrome 7, Meckel syndrome 5 |
| RPL10 | Mental retardation, X-linked, syndromic, 35, Autism, susceptibility to, X-linked 5 |
| RPL15 | Diamond-Blackfan anemia 12 |
| RRM2B | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), Mitochondrial DNA depletion syndrome 8B (MNGIE type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RS1 | Retinoschisis |
| RSPH4A | Ciliary dyskinesia, primary, 11 |
| RSPH9 | Ciliary dyskinesia, primary, 12 |
| RTN4IP1 | Optic atrophy 10 with or without ataxia, mental retardation, and seizures |
| SACS | Spastic ataxia, Charlevoix-Saguenay type |
| SAG | Oguchi disease-1, Retinitis pigmentosa 47, autosomal recessive, Retinitis pigmentosa 96, autosomal dominant |
| SALL2 | Coloboma, ocular, autosomal recessive |
| SARS2 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis |
| SBF2 | Charcot-Marie-Tooth disease, type 4B2 |
| SC5D | Lathosterolosis |
| SCAPER | Intellectual developmental disorder and retinitis pigmentosa |
| SCARF2 | Van den Ende-Gupta syndrome |
| SCN4A | Hyperkalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 2, Myasthenic syndrome, congenital, 16, Myotonia congenita, atypical, acetazolamide-responsive, Paramyotonia congenita |
| SCO1 | Mitochondrial complex IV deficiency, nuclear type IV |
| SCO2 | Mitochondrial complex IV deficiency, nuclear type 2, Myopia 6 |
| SDCCAG8 | Bardet-Biedl syndrome 16, Senior-Loken syndrome 7 |
| SDHA | Cardiomyopathy, dilated, 1GG, Neurodegeneration with ataxia and late-onset optic atrophy, Mitochondrial respiratory chain complex II deficiency, Paragangliomas 5 |
| SDHAF1 | Mitochondrial complex II deficiency, nuclear type 2 |
| SDHAF2 | Paragangliomas 2 |
| SDHB | Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas 4, Pheochromocytoma |
| SDHC | Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas 3 |
| SDHD | Mitochondrial complex II deficiency, Paraganglioma and gastric stromal sarcoma, Paragangliomas 1, with or without deafness, Pheochromocytoma |
| SEC23A | Craniolenticulosutural dysplasia |
| SEMA4A | Cone-rod dystrophy 10, Retinitis pigmentosa 35 |
| SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| SETX | Amyotrophic lateral sclerosis 4, juvenile, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
| SFXN4 | Combined oxidative phosphorylation deficiency 18 |
| SHH | Holoprosencephaly 3, Microphthalmia with coloboma 5, Schizencephaly, Single median maxillary central incisor |
| SIL1 | Marinesco-Sjogren syndrome |
| SIX3 | Holoprosencephaly 2, Schizencephaly |
| SIX5 | Branchiootorenal syndrome 2 |
| SIX6 | Optic disc anomalies with retinal and/or macular dystrophy |
| SLC16A12 | Cataract 47, juvenile, with microcornea |
| SLC18A3 | Myasthenic syndrome, congenital, 21, presynaptic |
| SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome |
| SLC19A3 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) |
| SLC22A5 | Carnitine deficiency, systemic primary |
| SLC24A1 | Night blindness, congenital stationary (complete), 1D, autosomal recessive |
| SLC24A5 | Albinism, oculocutaneous, type VI, Skin/hair/eye pigmentation 4, fair/dark skin |
| SLC25A1 | Myasthenic syndrome, congenital, 23, presynaptic, Combined D-2- and L-2-hydroxyglutaric aciduria |
| SLC25A12 | Epileptic encephalopathy, early infantile, 39 |
| SLC25A13 | Citrullinemia, adult-onset type II, Citrullinemia, type II, neonatal-onset |
| SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
| SLC25A19 | Microcephaly, Amish type, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) |
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
| SLC25A21 | Mitochondrial DNA depletion syndrome, 18 |
| SLC25A26 | Combined oxidative phosphorylation deficiency 28 |
| SLC25A3 | Mitochondrial phosphate carrier deficiency |
| SLC25A32 | Exercise intolerance, riboflavin-responsive |
| SLC25A38 | Anemia, sideroblastic, 2, pyridoxine-refractory |
| SLC25A4 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 |
| SLC25A42 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression |
| SLC25A46 | Neuropathy, hereditary motor and sensory, type VIB, Pontocerebellar hypoplasia, type 1E |
| SLC2A1 | Dystonia 9, GLUT1 deficiency syndrome 1, infantile onset, severe, GLUT1 deficiency syndrome 2, childhood onset, Stomatin-deficient cryohydrocytosis with neurologic defects, Epilepsy, idiopathic generalized, susceptibility to, 12 |
| SLC33A1 | Huppke-Brendel syndrome. Spastic paraplegia 42, autosomal dominant |
| SLC37A4 | Glycogen storage disease Ib, Glycogen storage disease Ic, Congenital disorder of glycosylation, type Iiw |
| SLC38A8 | Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis |
| SLC39A13 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 |
| SLC44A1 | Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline |
| SLC45A2 | Albinism, oculocutaneous, type IV, Skin/hair/eye pigmentation 5, black/nonblack hair, Skin/hair/eye pigmentation 5, dark/fair skin, Skin/hair/eye pigmentation 5, dark/light eyes |
| SLC5A7 | Myasthenic syndrome, congenital, 20, presynaptic, Neuronopathy, distal hereditary motor, type VIIA |
| SLC6A8 | Cerebral creatine deficiency syndrome 1 |
| SLC7A14 | Retinitis pigmentosa 68 |
| SMOC1 | Microphthalmia with limb anomalies |
| SNAI2 | Piebaldism, Waardenburg syndrome, type 2D |
| SNAP25 | Myasthenic syndrome, congenital, 18 |
| SNRNP200 | Retinitis pigmentosa 33 |
| SNX10 | Osteopetrosis, autosomal recessive 8 |
| SOD1 | Amyotrophic lateral sclerosis 1, Spastic tetraplegia and axial hypotonia, progressive |
| SOX10 | PCWH syndrome, Waardenburg syndrome, type 2E, with or without neurologic involvement, Waardenburg syndrome, type 4C |
| SOX2 | Microphthalmia, syndromic 3, Optic nerve hypoplasia and abnormalities of the central nervous system |
| SOX3 | Mental retardation, X-linked, with isolated growth hormone deficiency, Panhypopituitarism, X-linked |
| SPAST | Spastic paraplegia 4, autosomal dominant |
| SPATA5 | Epilepsy, hearing loss, and mental retardation syndrome |
| SPATA7 | Leber congenital amaurosis 3, Retinitis pigmentosa, juvenile, autosomal recessive |
| SPG11 | Amyotrophic lateral sclerosis 5, juvenile, Charcot-Marie-Tooth disease, axonal, type 2X, Spastic paraplegia 11, autosomal recessive |
| SPG15 | Spastic paraplegia 15, autosomal recessive |
| SPG2 | Spastic paraplegia 2, X-linked |
| SPG35 | Spastic paraplegia 35, autosomal recessive |
| SPG45 | Spastic paraplegia 45, autosomal recessive |
| SPG46 | Spastic paraplegia 46, autosomal recessive |
| SPG54 | Spastic paraplegia 54, autosomal recessive |
| SPG55 | Spastic paraplegia 55, autosomal recessive |
| SPG57 | Spastic paraplegia 57, autosomal recessive |
| SPG7 | Spastic paraplegia 7, autosomal recessive |
| SRD5A3 | Congenital disorder of glycosylation, type Iq, Kahrizi syndrome |
| SSBP1 | Optic atrophy 13 with retinal and foveal abnormalities |
| STAT2 | Immunodeficiency 44 |
| STRA6 | Microphthalmia, isolated, with coloboma 8, Microphthalmia, syndromic 9 |
| SUCLA2 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
| SUCLG1 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) |
| SUFU | Basal cell nevus syndrome, Joubert syndrome 32, Medulloblastoma, desmoplastic, Meningioma, familial, susceptibility to |
| SUOX | Sulfite oxidase deficiency |
| SURF1 | Charcot-Marie-Tooth disease, type 4K, Leigh syndrome, due to COX IV deficiency |
| SYNE2 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant |
| SYT2 | Myasthenic syndrome, congenital, 7, presynaptic |
| TACO1 | Mitochondrial complex IV deficiency |
| TARS2 | Combined oxidative phosphorylation deficiency 21 |
| TAZ | Barth syndrome |
| TBC1D20 | Warburg micro syndrome 4 |
| TBCE | Encephalopathy, progressive, with amyotrophy and optic atrophy, Hypoparathyroidism-retardation-dysmorphism syndrome, Kenny-Caffey syndrome, type 1 |
| TBK1 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 |
| TCTN1 | Joubert syndrome 13 |
| TCTN2 | Meckel syndrome 8, Joubert syndrome 24 |
| TCTN3 | Joubert syndrome 18, Orofaciodigital syndrome IV |
| TDRD7 | Cataract 36 |
| TEAD1 | Sveinsson chorioretinal atrophy |
| TEK | Glaucoma 3, primary congenital, E, Venous malformations, multiple cutaneous and mucosal |
| TENM3 | Microphthalmia, isolated, with coloboma 9, Microphthalmia, syndromic 15 |
| TFAM | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) |
| TFAP2A | Branchiooculofacial syndrome |
| TGFBI | Corneal dystrophy, Avellino type, Corneal dystrophy, epithelial basement membrane, Corneal dystrophy, Groenouw type I, Corneal dystrophy, lattice type I, Corneal dystrophy, lattice type IIIA, Corneal dystrophy, Reis-Bucklers type, Corneal dystrophy, Thiel-Behnke type |
| TIMM22 | Combined oxidative phosphorylation deficiency 43 |
| TIMM50 | 3-methylglutaconic aciduria, type IX |
| TIMM8A | Mohr-Tranebjaerg syndrome |
| TIMMDC1 | Mitochondrial complex I deficiency, nuclear type 31 |
| TIMP3 | Sorsby fundus dystrophy |
| TK2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, Mitochondrial DNA depletion syndrome 2 (myopathic type) |
| TKFC | Triokinase and FMN cyclase deficiency syndrome |
| TLCD3B | Cone-rod dystrophy 22 |
| TLR3 | HIV1 infection, resistance to, Immunodeficiency 83, susceptibility to viral infections |
| TMED7 | |
| TMEM107 | Joubert syndrome 29, Meckel syndrome 13, Orofaciodigital syndrome XVI |
| TMEM126A | Optic atrophy 7 |
| TMEM126B | Mitochondrial complex I deficiency, nuclear type 29 |
| TMEM138 | Joubert syndrome 16 |
| TMEM216 | Joubert syndrome 2, Meckel syndrome 2 |
| TMEM218 | Joubert syndrome 39 |
| TMEM231 | Joubert syndrome 20, Meckel syndrome 11 |
| TMEM237 | Joubert syndrome 14 |
| TMEM67 | RHYNS syndrome, COACH syndrome, Joubert syndrome 6, Meckel syndrome 3, Nephronophthisis 11, Bardet-Biedl syndrome 14, modifier of |
| TMEM70 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 |
| TMEM98 | Nanophthalmos 4 |
| TNXB | Ehlers-Danlos syndrome, classic-like, 1, Vesicoureteral reflux 8 |
| TOP3A | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, Microcephaly, growth restriction, and increased sister chromatid exchange 2 |
| TOPORS | Retinitis pigmentosa 31 |
| TOR1AIP1 | Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures |
| TPK1 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) |
| TPP1 | Ceroid lipofuscinosis, neuronal, 2, Spinocerebellar ataxia, autosomal recessive 7 |
| TRAF7 | Cardiac, facial, and digital anomalies with developmental delay |
| TREX1 | Aicardi-Goutieres syndrome 1, dominant and recessive, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy, Systemic lupus erythematosus, susceptibility to |
| TRIM32 | Bardet-Biedl syndrome 11, Muscular dystrophy, limb-girdle, autosomal recessive 8 |
| TRIT1 | Combined oxidative phosphorylation deficiency 35 |
| TRMT10C | Combined oxidative phosphorylation deficiency 30 |
| TRMT5 | Combined oxidative phosphorylation deficiency 26 |
| TRMU | Liver failure, transient infantile, Deafness, mitochondrial, modifier of |
| TRNT1 | Retinitis pigmentosa and erythrocytic microcytosis, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
| TRPM1 | Night blindness, congenital stationary (complete), 1C, autosomal recessive |
| TSFM | Combined oxidative phosphorylation deficiency 3 |
| TSPAN12 | Exudative vitreoretinopathy 5 |
| TTC19 | Mitochondrial complex III deficiency, nuclear type 2 |
| TTC21B | Nephronophthisis 12, Short-rib thoracic dysplasia 4 with or without polydactyly |
| TTC8 (BBS8) | Retinitis pigmentosa 51, Bardet-Biedl syndrome 8 |
| TTLL5 | Cone-rod dystrophy 19 |
| TTPA | Ataxia with isolated vitamin E deficiency |
| TUB | Retinal dystrophy and obesity |
| TUBB4B | Leber congenital amaurosis with early-onset deafness |
| TUBGCP4 | Microcephaly and chorioretinopathy, autosomal recessive, 3 |
| TUBGCP6 | Microcephaly and chorioretinopathy, autosomal recessive, 1 |
| TUFM | Combined oxidative phosphorylation deficiency 4 |
| TULP1 | Leber congenital amaurosis 15, Retinitis pigmentosa 14 |
| TWNK | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Perrault syndrome 5, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| TYMP | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
| TYR | Albinism, oculocutaneous, type IA, Albinism, oculocutaneous, type IB, Waardenburg syndrome/albinism, digenic, Skin/hair/eye pigmentation 3, blue/green eyes, Skin/hair/eye pigmentation 3, light/dark/freckling skin, Melanoma, cutaneous malignant, susceptibility to, 8 |
| TYRP1 | Albinism, oculocutaneous, type III, Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair) |
| UBIAD1 | Corneal dystrophy, Schnyder type |
| UCHL1 | Spastic paraplegia 79, autosomal recessive, Parkinson disease 5, susceptibility to |
| UNC119 | Cone-rod dystrophy, Immunodeficiency 13 |
| UQCC2 | Mitochondrial complex III deficiency, nuclear type 7 |
| UQCC3 | Mitochondrial complex III deficiency, nuclear type 9 |
| UQCRB | Mitochondrial complex III deficiency, nuclear type 3 |
| UQCRC2 | Mitochondrial complex III deficiency, nuclear type 5 |
| UQCRQ | Mitochondrial complex III deficiency, nuclear type 4 |
| USH1C | Deafness, autosomal recessive 18A, Usher syndrome, type 1C |
| USH1G | Usher syndrome, type 1G |
| USH2A | Retinitis pigmentosa 39, Usher syndrome, type 2A |
| USH2C | Usher syndrome, type 2C |
| USH2D | Usher syndrome, type 2D |
| VAMP1 | Myasthenic syndrome, congenital, 25, Spastic ataxia 1, autosomal dominant |
| VARS2 | Combined oxidative phosphorylation deficiency 20 |
| VAX1 | Microphthalmia, syndromic 11 |
| VCAN | Wagner syndrome 1 |
| VHL | Erythrocytosis, familial, 2, Hemangioblastoma, cerebellar, somatic, Pheochromocytoma, Renal cell carcinoma, somatic, von Hippel-Lindau syndrome |
| VPS13B | Cohen syndrome |
| VSX2 | Microphthalmia with coloboma 3, Microphthalmia, isolated 2 |
| WARS2 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures |
| WDPCP | Bardet-Biedl syndrome 15, Congenital heart defects, hamartomas of tongue, and polysyndactyly |
| WDR19 | Cranioectodermal dysplasia 4, Short-rib thoracic dysplasia 5 with or without polydactyly, Nephronophthisis 13, Senior-Loken syndrome 8 |
| WDR34 | Short-rib thoracic dysplasia 11 with or without polydactyly |
| WDR35 | Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly |
| WDR36 | Glaucoma 1, open angle, G |
| WDR73 | Galloway-Mowat syndrome 1 |
| WFS1 | Cataract 41, Deafness, autosomal dominant 6/14/38, Wolfram syndrome 1, Wolfram-like syndrome, autosomal dominant, Diabetes mellitus, noninsulin-dependent, association with |
| WFS2 | Wolfram syndrome 2 |
| WHRN | Deafness, autosomal recessive 31, Usher syndrome, type 2D |
| XPNPEP3 | Nephronophthisis-like nephropathy 1 |
| YARS2 | Myopathy, lactic acidosis, and sideroblastic anemia 2 |
| YME1L1 | Optic atrophy 11 |
| ZEB2 | Mowat-Wilson syndrome |
| ZFYVE26 | Spastic paraplegia 15, autosomal recessive |
| ZIC3 | Congenital heart defects, nonsyndromic, 1, X-linked, Heterotaxy, visceral, 1, X-linked, VACTERL association, X-linked |
| ZNF408 | Exudative vitreoretinopathy 6, Retinitis pigmentosa 72 |
| ZNF423 | Joubert syndrome 19, Nephronophthisis 14 |
| ZNF469 | Brittle cornea syndrome 1 |
| ZNF513 | Retinitis pigmentosa 58 |
| ZNHIT3 | PEHO syndrome |
| ANGPT1 | GWAS association with Glaucoma |
| ATXN7 | Spinocerebellar ataxia 7 – CAG expansion disorder |
| C2 | GWAS association with AMD |
| C3 | GWAS association with AMD |
| C9 | GWAS association with AMD |
| CD36 | GWAS association with AMD and Glaucoma |
| CDKN2A | GWAS association with AMD |
| CFB | Macular degeneration, age-related, 14, reduced risk of |
| CFHR2 | GWAS association with AMD |
| ACACB | Candidate Modifier Genes for the Penetrance of Leber’s Hereditary Optic Neuropathy |
| ACADL | Candidate gene for metabolic disorder |
| AKR1C1 | Candidate gene for nonsyndromic lipedema |
| ARFGAP2 | Candidate gene for pigmentation disorders |
| ASIC5 | Candidate gene for Usher syndrome |
| ATP5MF | Candidate gene for Mitochondria disorder; Metabolic disorder |
| ATP5MG | Candidate gene for Mitochondria disorder; Metabolic disorder |
| ATP5MGL | Candidate gene for Mitochondria disorder; Metabolic disorder |
| ATP5PB | Candidate gene for Mitochondria disorder; Metabolic disorder |
| ATP5PD | Candidate gene for Mitochondria disorder; Metabolic disorder |
| ATPAF1 | Candidate gene for Mitochondria disorder; Metabolic disorder |
| BCO2 | Candidate gene for metobolic disorder |
| C7orf26 | Potential candidate gene/Added by client request |
| CCER1 | Potential candidate gene/Added by client request |
| CHERP | Potential candidate gene/Added by client request |
| CLTA | Potential candidate gene/Added by client request |
| COA4 | Mitochondria candidate gene |
| COL26A1 | Potential candidate gene/Added by client request |
| COX17 | Potential candidate gene/Added by client request |
| COX19 | Potential candidate gene/Added by client request |
| COX6B2 | Potential candidate gene/Added by client request |
| COX7A1 | Potential candidate gene/Added by client request |
| CRYGA | Potential candidate gene/Added by client request |
| CSMD1 | Potential candidate gene/Added by client request |
| CSMD2 | Potential candidate gene/Added by client request |
| DCDC1 | Potential candidate gene/Added by client request |
| DHX32 | Inherited retinal dystrophy candidate gene |
| DNAJC17 | Inherited retinal dystrophy candidate gene |
| DSCAML1 | Inherited retinal dystrophy candidate gene |
| ENSA | Potential candidate gene/Added by client request |
| FCN1 | Potential candidate gene/Added by client request |
| FGF21 | Potential candidate gene/Added by client request |
| FOXH1 | Potential candidate gene/Added by client request |
| GPR45 | Potential candidate gene/Added by client request |
| IFT88 | Inherited retinal dystrophy candidate gene PMID: 29978320 |
| KIF24 | Potential candidate gene/Added by client request |
| LEFTY2 | Candidate gene for exfoliation glaucoma PMID 34964803 |
| LHX2 | Candidate gene for inherited retinal dystrophy PMID 23595746 |
| MMP1 | Candidate gene for uveal melanoma |
| MPRIP | Potential candidate gene/Added by client request |
| MRRF | Potential candidate gene/Added by client request |
| MRS2 | Potential candidate gene/Added by client request |
| NDRG4 | Potential candidate gene/Added by client request |
| NDUFA7 | Potential candidate gene/Added by client request |
| NDUFAF7 | Candidate gene for degenerative myopia; PMID 28837730 |
| NDUFB6 | Potential candidate gene/Added by client request |
| NDUFS5 | Potential candidate gene/Added by client request |
| NDUFV3 | Potential candidate gene/Added by client request |
| NECTIN3 | Candidate gene for hearing loss; PMID 36568980 |
| NUTF2 | Potential candidate gene/Added by client request |
| NXNL1 | Candidate gene for rod-cone dystrophies; PMID 20139892 |
| OR2W3 | Candidate gene for retinitis pigmentosa; PMID 25783483 |
| OXA1L | Potential candidate gene/Added by client request |
| PKM | Potential candidate gene/Added by client request |
| POC5 | Candidate gene for retinitis pigmentosa: PMID 29272404 |
| PTCD1 | Potential candidate gene/Added by client request |
| RHEX | Potential candidate gene/Added by client request |
| RIMS1 | Candidate gene for rod-cone dystrophy; PMID 17237123 |
| RPH3A | Candidate gene for neurodevelopmental disorders; PMID 37403762 |
| RTBDN | Candidate gene for rod-cone degeneration; PMID 35873559 |
| SAMD11 | Candidate gene for retinitis pigmentosa; PMID 27734943 |
| SCLT1 | Candidate gene for Bardet-Biedl syndrome; PMID 32253632 |
| SDHAF3 | Candidate gene for paragangliomas; PMID 28738844 |
| SDHAF4 | Candidate gene for paragangliomas; PMID 32948195 |
| SLC4A7 | Candidate gene for rod-cone dystrophy; PMID 32594822 |
| SLC6A15 | Potential candidate gene/Added by client request |
| SNX3 | Potential candidate gene/Added by client request |
| SPG68 | Potential candidate gene/Added by client request |
| SPP2 | Candidate gene for retinitis pigmentosa; PMID 26459573 |
| SREBF2 | Candidate gene for lens function; PMID 21858719 |
| STARD9 | Potential candidate gene/Added by client request |
| STK38L | Potential candidate gene/Added by client request |
| SYTL4 | Potential candidate gene/Added by client request |
| TBC1D32 | Candidate gene for retinitis pigmentosa; PMID 37768732 |
| TFB1M | Candidate gene for hearing loss; PMID 15542390 |
| TLR4 | Potential candidate gene/Added by client request |
| TMEM114 | Potential candidate gene/Added by client request |
| TMEM65 | Potential candidate gene/Added by client request |
| TNPO1 | Potential candidate gene/Added by client request |
| UNC13A | Candidate gene for congenital myasthenic syndrome |
| UQCC1 | Potential candidate gene/Added by client request |
| UQCR10 | Potential candidate gene/Added by client request |
| UQCR11 | Potential candidate gene/Added by client request |
| VAX2 | Candidate gene for retinal dystrophy; PMID 26068435 |
| WDR17 | Potential candidate gene/Added by client request |
Last Updated: January 21, 2025
