Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
ACAD9-deficient mild myopathy (9.23)
611126
ACAD9 (3q21.3)
acyl-CoA dehydrogenase family member 9 (M)



Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.45, 7.10, 13.40)
108500
CACNA1A (19p13.2-p13.1)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



Acyl-CoA dehydrogenase (very long chain) deficiency (9.22)
201475
ACADVL (17p13)
Acyl-Coenzyme A dehydrogenase, very long chain (M)



Adolescent onset distal myopathy (4.18)
617030
ADSSL1 (14q32-33)
Adénylosuccinate synthase-like



Adult onset distal myopathy (4.6)
610099
? - (8p22-q11)
Agenesis of the corpus callosum with peripheral neuropathy (14.93)
218000
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.61)
270200
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



Amyotrophic lateral sclerosis (12.39)
606640
? - (18q21)
Amyotrophic lateral sclerosis (12.46, 12.30)
608627
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C



Amyotrophic lateral sclerosis (12.45)
608031
? - (20p13)
Amyotrophic lateral sclerosis (12.44)
608030
FUS (16q12)
Fusion (involved in t(12;16) in malignant liposarcoma)



Amyotrophic lateral sclerosis (602099
? - (15q15-q21)
Amyotrophic lateral sclerosis 1 (12.36, 12.37)
105400
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



amyotrophic lateral sclerosis 10 (12.48)
612069
TARDBP (1p36.2)
TAR DNA binding protein



Amyotrophic lateral sclerosis 11 (14.28, 12.49)
612577
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



Amyotrophic lateral sclerosis 12 (12.50)
OPTN (10p14)
Optineurin



Amyotrophic lateral sclerosis 13 (13.2, 12.51)
183090
ATXN2 (12q24.1)
Ataxin 2



Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.25, 4.17, 12.52, 1.47)
613954
VCP (9p13-p12)
Valosin-containing protein



Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.53)
UBQLN2 (Xp11.21)
Ubiquilin 2



Amyotrophic lateral sclerosis 16, juvenile (12.54)
614373
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1



Amyotrophic lateral sclerosis 17 (12.55)
CHMP2B (3p11.2)
Charged multivesicular body protein 2B



Amyotrophic lateral sclerosis 18 (12.56)
614808
PFN1 (17p13.2)
Profilin 1



Amyotrophic lateral sclerosis 20 (3.35, 12.57)
615426
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1



Amyotrophic lateral sclerosis 5 (15.22, 12.41, 14.61)
602099
SPG11 (15q21.1)
Spatacsin



amyotrophic lateral sclerosis 9 (12.47)
611895
ANG (14q11.2)
Angiogenin



Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.32, 12.63, 16.29)
615911
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10 (M)



Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.62)
105550
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72



Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.64)
616437
SQSTM1 (5q35.3)
Sequestosome 1



Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.36, 12.37)
105400
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



Amyotrophic lateral sclerosis, juvenile (12.38, 15.62)
205100
ALS2 (2q33.2)
Alsin



Andermann syndrome (14.93)
218000
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



Arrhythmogenic right ventricular cardiomyopathy 2 (10.80, 10.91)
600996
RYR2 (1q42.1-q43)
Ryanodine receptor 2



Arrhythmogenic right ventricular cardiomyopathy 3 (10.81)
602086
? - (14q12-q22)
Arrhythmogenic right ventricular cardiomyopathy 4 (10.82)
602087
? - (2q32.1-q32.3)
Arrhythmogenic right ventricular cardiomyopathy 6 (10.84)
604404
? - (10p14-p12)
Arrhythmogenic right ventricular dysplasia 2 (10.80, 10.91)
600996
RYR2 (1q42.1-q43)
Ryanodine receptor 2



Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.2, 1.17, 10.38, 1.38)
601419
DES (2q35)
Desmin



Arrhythmogenic right ventricular dysplasia-3 (10.81)
602086
? - (14q12-q22)
Arrhythmogenic right ventricular dysplasia, 1 (10.79)
107970
TGFB3 (14q24.3)
Transforming growth factor, beta 3



Arrhythmogenic right ventricular dysplasia, 10 (10.87)
610193
DSG2 (18q12.1)
Desmoglein 2



Arrhythmogenic right ventricular dysplasia, 11 (10.88)
610476
DSC2 (18q12.1)
Desmocollin 2



Arrhythmogenic right ventricular dysplasia, 8 (10.85)
607450
DSP (6p24)
Desmoplakin



Arrhythmogenic right ventricular dysplasia, 9 (10.86)
609040
PKP2 (12p11)
Plakophilin 2



Arrhythmogenic right ventricular dysplasia, familial, 1 (10.79)
107970
TGFB3 (14q24.3)
Transforming growth factor, beta 3



arrhythmogenic right ventricular dysplasia, familial, 12 (10.93, 10.89)
611528
JUP (17q21)
Junction plakoglobin



Arrhythmogenic right ventricular dysplasia, familial, 13 (10.90)
615616
CTNNA3 (10q21.3)
Catenin alpha 3



Arrhythmogenic right ventricular dysplasia, familial, 4 (10.82)
602087
? - (2q32.1-q32.3)
arrhythmogenic right ventricular dysplasia, familial, 5 (10.83, 1.8)
604400
TMEM43 (3p25.1)
Transmembrane protein 43



Arrhythmogenic right ventricular dysplasia, familial, 6 (10.84)
604401
? - (10p14-p12)
arrhythmogenic right ventricular dysplasia, familial, 7 (5.5)
609160
? - (10q22)
Arthrogryposis, distal, type 1A (3.4, 3.36, 16.8, 16.13)
108120
TPM2 (9p13)
Tropomyosin 2 (beta)



Arthrogryposis, distal, type 2A (16.9, 16.12)
193700
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



arthrogryposis, distal, type 2B (3.4, 3.36, 16.8, 16.13)
601680
TPM2 (9p13)
Tropomyosin 2 (beta)



Arthrogryposis, distal, type 2B (16.10)
601680
TNNI2 (11p15.5)
Troponin I, type 2



Arthrogryposis, distal, type 2B (16.11)
601680
TNNT3 (11p15.5)
Troponin T3, skeletal



Arthrogryposis, distal, type 2B (16.9, 16.12)
601680
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



Asymmetric septal hypertrophy (10.47, 10.10)
192600
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



ataxia telangiectasia (13.63)
208900
ATM (11q22.3)
Ataxia telangiectasia mutated



ataxia telangiectasia-like disorder (13.64)
604391
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A



Ataxia with isolated vitamin E deficiency (13.48)
277460
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



ATAXIA-oculomotor apraxia 2 (12.40, 13.51)
606002
SETX (9q34.13)
Senataxin



Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.50)
208920
APTX (9p13.3)
Aprataxin



Ataxia, Friedreich-like, with selective vitamin E deficiency (13.48)
277460
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



ataxia, spastic, 1, autosomal dominant (15.67)
108600
VAMP1 (12p13)
vesicle associated membrane protein (synaptobrevin 1)



ataxia, spastic, 2, autosomal recessive (15.68)
611302
KIF1C (17p13.2)
kinesin family member 1C



atrial fibillation, familial, 8 (10.127)
613055
? - (16q22)
Atrial fibrillation, 1 (10.120)
607554
? - (10q22-q24)
Atrial fibrillation, 13 (10.138, 10.131)
615377
SCN1B (19q13.12)
Sodium channel, voltage-gated, type I, beta subunit



Atrial fibrillation, 14 (10.132)
615378
SCN2B (11q23.3)
Sodium channel, voltage-gated, type II, beta subunit



Atrial fibrillation, 15 (10.133)
615770
NUP155 (5p13.2)
Nucleoporin 155 kDa



Atrial fibrillation, 2 (10.121)
608988
? - (10q22-q24)
Atrial fibrillation, 3 (10.118, 10.102, 7.17, 7.16, 10.122, 10.116)
607554
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



Atrial fibrillation, 4 (7.18, 10.107, 10.119, 10.123)
611493
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



Atrial fibrillation, 9 (7.14, 10.108, 10.117, 10.128)
613980
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



atrial fibrillation, familial (10.126)
612240
KCNA5 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 5



atrial fibrillation, familial, 1 (10.129, 10.130)
608583
GJA5 (1q21.1)
Connexin 40



atrial fibrillation, familial, 5 (10.124)
611494
? - (4q25)
atrial fibrillation, familial, 6 (10.125)
612201
NPPA (1p36)
Natriuretic peptide precursor A



Autophagic vacuolar myopathy (5.14)
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



Autosomal dominant early-onset proximal spinal muscular atrophy (12.31)
? - (14q)
Autosomal dominant late-onset spinal motor neuropathy (12.32)
Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.16, 3.21, 4.2, 1.30, 10.36, 10.8, 3.40)
603689
TTN (2q31)
Titin



Autosomal recessive CMT axonal type 2S (12.5, 14.75)
616155
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



Autosomal recessive CMT2 related to DNAJB2 (12.22, 14.70)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.72, 13.65)
270550
SACS (13q12)
Sacsin



autosomal recessive spastic ataxia with leukoencephalopathy (15.69)
611390
MARS2 (2q33-34)
methionyl-tRNA synthetase 2, mitochondrial (M)



Axonal neuropathy intermediate recessive C (615376
Axonal neuropathy intermediate recessive C (12.8, 14.73)
615376
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



Axonal neuropathy recessive (14.72)
613641
KARS (16q23.1)
Lysyl-tRNA synthetase



Axonal neuropathy with myotonia (14.71)
137200
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1