Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Absence of pain, Congenital (14.114) | CLTCL1 (22q11.21) Clathrin, heavy polypeptide-like 1       | |
| ACAD9-deficient mild myopathy (9.25) | 611126 | ACAD9 (3q21.3) Acyl-CoA dehydrogenase family member 9 (M) |
| Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.50, 7.10, 13.45) | 108500 | CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| Acyl-CoA dehydrogenase (very long chain) deficiency (9.24) | 201475 | ACADVL (17p13) Acyl-Coenzyme A dehydrogenase, very long chain (M) |
| Adolescent onset distal myopathy (4.20) | 617030 | ADSSL1 (14q32-33) Adénylosuccinate synthase-like |
| Adult onset distal myopathy (4.6) | 610099 | ? - (8p22-q11) |
| Agenesis of the corpus callosum with peripheral neuropathy (14.120) | 218000 | SLC12A6 (15q13-q15) Potassium chloride cotransporter KCC3 |
| Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.68) | 270200 | ALDH3A2 (17p11.2) Aldehyde dehydrogenase 3A2 |
| Amyotrophic lateral sclerosis (12.46) | 606640 | ? - (18q21) |
| Amyotrophic lateral sclerosis (12.51, 12.35) | 608627 | VAPB (7p15) Vesicle-associated membrane protein-associated protein B and C |
| Amyotrophic lateral sclerosis (12.50) | 608031 | ? - (20p13) |
| Amyotrophic lateral sclerosis (12.49) | 608030 | FUS (16q12) Fusion (involved in t(12;16) in malignant liposarcoma) |
| Amyotrophic lateral sclerosis (12.76) | LRP10 (14q11.2) Low Density Lipoprotein Receptor-Related Protein 10 | |
| Amyotrophic lateral sclerosis (14.97, 12.77) | SPTLC1 (9q22.2) Serine palmitoyltransferase subunit 1 | |
| Amyotrophic lateral sclerosis 1 (12.43, 12.44) | 105400 | SOD1 (21q22.1) Superoxide dismutase 1, soluble |
| amyotrophic lateral sclerosis 10 (12.53) | 612069 | TARDBP (1p36.2) TAR DNA binding protein |
| Amyotrophic lateral sclerosis 11 (14.32, 12.54) | 612577 | FIG4 (6q21) Sac domain-containing inositol phosphatase 3 |
| Amyotrophic lateral sclerosis 12 (12.55) | OPTN (10p14) Optineurin | |
| Amyotrophic lateral sclerosis 13 (13.2, 12.56) | 183090 | ATXN2 (12q24.12) Ataxin 2 |
| Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.29, 4.19, 12.57, 1.62, 14.65) | 613954 | VCP (9p13-p12) Valosin-containing protein |
| Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.58) | UBQLN2 (Xp11.21) Ubiquilin 2 | |
| Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.59) | 614373 | SIGMAR1 (9p13.3) Sigma non-opioid intracellular receptor 1 |
| Amyotrophic lateral sclerosis 17 (12.60) | 614696 | CHMP2B (3p11.2) Charged multivesicular body protein 2B |
| Amyotrophic lateral sclerosis 18 (12.61) | 614808 | PFN1 (17p13.2) Profilin 1 |
| Amyotrophic lateral sclerosis 19 (12.62) | 615515 | ERBB4 (2q34) V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4 |
| Amyotrophic lateral sclerosis 20 (3.40, 12.63) | 615426 | HNRNPA1 (12q13.13) Heterogeneous nuclear ribonucleoprotein A1 |
| Amyotrophic lateral sclerosis 22 (12.65) | 616208 | TUBA4A (2q35) Tubulin, Alpha-4A |
| Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.72, 12.68) | 617921 | KIF5A (12q13.13) Kinesin family member 5A |
| Amyotrophic lateral sclerosis 5 (15.26, 12.48, 14.89) | 602099 | SPG11 (15q21.1) SPG11 vesicle trafficking associated, Spatacsin |
| amyotrophic lateral sclerosis 9 (12.52) | 611895 | ANG (14q11.2) Angiogenin |
| Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.36, 12.73, 16.62) | 615911 | CHCHD10 (22q11.2-q13.2) Coiled-coil-helix-coiled-coil-helix domain containing 10 (M) |
| Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.72) | 105550 | C9orf72 (9p21.2) Chromosome 9 open reading frame 72 |
| Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.74, 4.21, 4.8) | 616437 | SQSTM1 (5q35.3) Sequestosome 1 |
| Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.75) | 616439 | TBK1 (12q14.2) Tank-binding kinase 1 |
| Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.43, 12.44) | 105400 | SOD1 (21q22.1) Superoxide dismutase 1, soluble |
| Amyotrophic lateral sclerosis, juvenile (12.45, 15.69) | 205100 | ALS2 (2q33.2) Alsin Rho guanine nucleotide exchange factor 2 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 (12.67) | 617892 | NEK1 (4q33) Never in motosis gene A-related kinase 1 |
| Amytrophic lateral sclerosis 23 (12.66, 12.102) | 617839 | ANXA11 (10q23.3) Annexin A11 |
| Andermann syndrome (14.120) | 218000 | SLC12A6 (15q13-q15) Potassium chloride cotransporter KCC3 |
| Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.130, 10.136) | KCNJ5 (11 q24.3) Potassium inwardly-rectifying channel, subfamily J, member 5 | |
| Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.142, 10.153, 10.129) | KCNJ2 (17q24.3) Potassium channel, inwardly rectifying, dubfamily J, member 2 | |
| Arrhythmogenic right ventricular cardiomyopathy 2 (10.104, 10.115) | 600996 | RYR2 (1q43) Ryanodine receptor 2 |
| Arrhythmogenic right ventricular cardiomyopathy 3 (10.105) | 602086 | ? - (14q12-q22) |
| Arrhythmogenic right ventricular cardiomyopathy 4 (10.106) | 602087 | ? - (2q32.1-q32.3) |
| Arrhythmogenic right ventricular cardiomyopathy 6 (10.108, 3.49) | 604404 | HACD1 (10p12.33) Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase |
| Arrhythmogenic right ventricular dysplasia 2 (10.104, 10.115) | 600996 | RYR2 (1q43) Ryanodine receptor 2 |
| Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 1.28, 10.44, 1.58, 5.14, 10.121) | 601419 | DES (2q35) Desmin |
| Arrhythmogenic right ventricular dysplasia-3 (10.105) | 602086 | ? - (14q12-q22) |
| Arrhythmogenic right ventricular dysplasia, 1 (10.103) | 107970 | TGFB3 (14q24.3) Transforming growth factor, beta 3 |
| Arrhythmogenic right ventricular dysplasia, 10 (10.111, 10.63) | 610193 | DSG2 (18q12.1) Desmoglein 2 |
| Arrhythmogenic right ventricular dysplasia, 11 (10.112) | 610476 | DSC2 (18q12.1) Desmocollin 2 |
| Arrhythmogenic right ventricular dysplasia, 8 (10.109) | 607450 | DSP (6p24.3) Desmoplakin |
| Arrhythmogenic right ventricular dysplasia, 9 (10.110) | 609040 | PKP2 (12p11.21) Plakophilin 2 |
| Arrhythmogenic right ventricular dysplasia, familial, 1 (10.103) | 107970 | TGFB3 (14q24.3) Transforming growth factor, beta 3 |
| arrhythmogenic right ventricular dysplasia, familial, 12 (10.120, 10.113) | 611528 | JUP (17q21.2) Junction plakoglobin |
| Arrhythmogenic right ventricular dysplasia, familial, 13 (10.114) | 615616 | CTNNA3 (10q21.3) Catenin alpha 3 |
| Arrhythmogenic right ventricular dysplasia, familial, 4 (10.106) | 602087 | ? - (2q32.1-q32.3) |
| arrhythmogenic right ventricular dysplasia, familial, 5 (10.107, 1.8) | 604400 | TMEM43 (3p25.1) Transmembrane protein 43 |
| Arrhythmogenic right ventricular dysplasia, familial, 6 (10.108, 3.49) | 604401 | HACD1 (10p12.33) Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase |
| arrhythmogenic right ventricular dysplasia, familial, 7 ( | 609160 | ? - (10q22) |
| Arthrogryposis and BICD2-related neuromuscular disease (12.33, 12.34, 16.22) | BICD2 (9q22.31) Bicaudal D homolog 2 (Drosophila) | |
| Arthrogryposis and muscular dysplasia (16.23) | MET (7q31.2) MET protooncogene | |
| Arthrogryposis multiplex congenita with nesprin-1 defect (1.6, 13.63, 16.21, 10.82) | 618484 | SYNE1 (6q25) Spectrin repeat containing, nuclear envelope 1 (nesprin 1) |
| Arthrogryposis related to ASCC1 (12.12, 16.24) | ASCC1 (10q22.1) Activating signal cointegrator 1 complex subunit 1 | |
| Arthrogryposis, distal, type 1B (16.10, 12.81) | 614335 | MYBPC1 (12q23.2) Myosin-binding proteinC, slow type |
| Arthrogryposis, distal, type 3 (16.16, 16.17) | 114300 | PIEZO2 (18p11.22-p11.21) Piezo-type mechanosensitive ion channel component 2 |
| Arthrogryposis, distal, type 5 (16.16, 16.17) | 108145 | PIEZO2 (18p11.22-p11.21) Piezo-type mechanosensitive ion channel component 2 |
| Arthrogryposis, distal, type 10 (16.20) | 187370 | ? - (2q31.3-q32.1 ) |
| Arthrogryposis, distal, type 1A (3.4, 3.42, 16.9, 16.15) | 108120 | TPM2 (9p13) Tropomyosin 2 (beta) |
| Arthrogryposis, distal, type 2A (16.11, 16.14) | 193700 | MYH3 (17p13) Myosine, heavy chain 3, skeletal muscle, embryonic |
| arthrogryposis, distal, type 2B (3.4, 3.42, 16.9, 16.15) | 601680 | TPM2 (9p13) Tropomyosin 2 (beta) |
| Arthrogryposis, distal, type 2B (16.12) | 601680 | TNNI2 (11p15.5) Troponin I, type 2 |
| Arthrogryposis, distal, type 2B (16.13, 3.14) | 601680 | TNNT3 (11p15.5) Troponin T3, skeletal |
| Arthrogryposis, distal, type 2B (16.11, 16.14) | 601680 | MYH3 (17p13) Myosine, heavy chain 3, skeletal muscle, embryonic |
| Arthrogryposis, distal, type 5D (16.18) | 615065 | ECEL1 (2q37.1) Endothelin-converting enzyme like 1 |
| Asymmetric septal hypertrophy (10.53, 10.10, 10.95) | 192600 | ACTC1 (15q11-q14) Actin, alpha, cardiac muscle precursor |
| ataxia telangiectasia (13.91) | 208900 | ATM (11q22.3) Ataxia telangiectasia mutated |
| ataxia telangiectasia-like disorder (13.92) | 604391 | MRE11A (11q21) MRE11 meiotic recombination 11 homolog A |
| Ataxia telangiectasia-like disorder 2 (13.93) | 615919 | PCNA (20p12.3) Proloferating cell nuclear antigen |
| Ataxia with isolated vitamin E deficiency (13.55) | 277460 | TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) |
| Ataxia-pancytopenia syndrome (13.52) | 159550 | SAMD9L (7q21.2) Sterile Alpha Motif Domain-Containing Protein 9-Like |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.57) | 208920 | APTX (9p13.3) Aprataxin |
| Ataxia, Friedreich-like, with selective vitamin E deficiency (13.55) | 277460 | TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) |
| Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.113) | 609033 | FLVCR1 (1q32.3) Feline leukemia subgroup C receptor 1 |
| ataxia, spastic, 1, autosomal dominant (15.76, 11.33) | 108600 | VAMP1 (12p13) Vesicle associated membrane protein (synaptobrevin 1) (M) |
| ataxia, spastic, 2, autosomal recessive (15.77) | 611302 | KIF1C (17p13.2) kinesin family member 1C |
| ATFB18 (10.163) | 617280 | MYL4 (17q21.32) Myosin, Light Chain 4, Alkali, Atrial, Embryonic |
| atrial fibillation, familial, 8 (10.152) | 613055 | ? - (16q22) |
| Atrial fibrillation , 12 (10.50, 10.157) | 614050 | ABCC9 (16p13.1) ATP-binding cassette, sub-family C (member 9) |
| Atrial fibrillation, 1 (10.145) | 607554 | ? - (10q22-q24) |
| Atrial fibrillation, 10 (10.125, 10.41, 10.164, 10.175, 10.154) | 614022 | SCN5A (3p22.2) Voltage-gated sodium channel type V alpha |
| Atrial fibrillation, 13 (10.168, 10.158) | 615377 | SCN1B (19q13.11) Sodium channel, voltage-gated, type I, beta subunit |
| Atrial fibrillation, 14 (10.159) | 615378 | SCN2B (11q23.3) Sodium channel, voltage-gated, type II, beta subunit |
| Atrial fibrillation, 15 (10.160) | 615770 | NUP155 (5p13.2) Nucleoporin 155 kDa |
| Atrial fibrillation, 16 (10.170, 10.161) | 613120 | SCN3B (11 q24.1) Sodium channel, voltage-gated, type III, beta subunit |
| Atrial fibrillation, 17 (10.133, 10.162) | 611819 | SCN4B (11q23.3) Sodium channel, voltage-gated, type IV, beta subunit |
| Atrial fibrillation, 2 (10.146) | 608988 | ? - (10q22-q24) |
| Atrial fibrillation, 3 (10.143, 10.123, 10.147, 10.141) | 607554 | KCNQ1 (11p15.5-p15.4) Potassium voltage-gated channel, KQT-like subfamily, member 1 |
| Atrial fibrillation, 4 (10.128, 10.148) | 611493 | KCNE2 (21q22.12) Potassium voltage-gated channel, Isk-related family, member 2 |
| Atrial fibrillation, 9 (10.142, 10.153, 10.129) | 613980 | KCNJ2 (17q24.3) Potassium channel, inwardly rectifying, dubfamily J, member 2 |
| atrial fibrillation, familial (10.151) | 612240 | KCNA5 (12p13.32) Potassium voltage-gated channel, shaker-related subfamily, member 5 |
| atrial fibrillation, familial, 1 (10.155, 10.156) | 608583 | GJA5 (1q21.1) Connexin 40 |
| atrial fibrillation, familial, 5 (10.149) | 611494 | ? - (4q25) |
| atrial fibrillation, familial, 6 (10.150) | 612201 | NPPA (1p36.22) Natriuretic peptide precursor A |
| Autophagic vacuolar myopathy (5.17) | CLN3 (16p11.2) Ceroid-lipofuscinosis, neuronal 3 (=battenin) | |
| Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89) | 603689 | TTN (2q31) Titin |
| Autosomal recessive CMT axonal type 2S (12.5, 14.87) | 616155 | IGHMBP2 (11q13.2-q13.4) Immunoglobulin mu binding protein 2 |
| Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.80) | DNAJB2 (2q32-q34) DnaJ (Hsp40) homolog, subfamily B, member 2 | |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.81, 13.94, 14.93) | 270550 | SACS (13q12) Sacsin |
| autosomal recessive spastic ataxia with leukoencephalopathy (15.78) | 611390 | MARS2 (2q33-34) Methionyl-tRNA synthetase 2, mitochondrial (M) |
| Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.64, 16.73) | 612016 | ADCK3 (1q42.13) Coenzyme Q8A |
| Axonal neuropathy intermediate recessive C (12.8, 14.84) | 615376 | PLEKHG5 (1p36) Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 |
| Axonal neuropathy recessive (14.83) | 613641 | KARS (16q23.1) Lysyl-tRNA synthetase |
| Axonal neuropathy with myotonia (14.81, 12.15) | 137200 | HINT1 (5q23.3) Histidine triad nucleotide binding protein 1 |