Disease table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Disease phenotype
OMIM
Gene symbol (chromosome)
protein
abetalipoproteinemia (13.57)
MTTP (4q23)
microsomal triglyceride transfer protein

Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.35, 7.10, 13.30)
CACNA1A (19p13.2-p13.1)
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

Acyl-CoA dehydrogenase (very long chain) deficiency (9.21)
ACADVL (17p13)
acyl-Coenzyme A dehydrogenase, very long chain

Adult onset distal myopathy (4.6)
? - (8p22-q11)
Agenesis of the corpus callosum with peripheral neuropathy (14.63)
SLC12A6 (15q13-q15)
potassium chloride cotransporter KCC3

Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.41)
ALDH3A2 (17p11.2)
aldehyde dehydrogenase 3A2

Amyotrophic lateral sclerosis (12.24)
? - (18q21)
Amyotrophic lateral sclerosis (12.29)
VAPB (7p15)
vesicle-associated membrane protein-associated protein B and C

Amyotrophic lateral sclerosis (12.28)
? - (20p13)
Amyotrophic lateral sclerosis (12.27)
FUS (16q12)
fusion (involved in t(12;16) in malignant liposarcoma)

Amyotrophic lateral sclerosis (12.26)
? - (15q15-q21)
Amyotrophic lateral sclerosis 1 (12.21, 12.22)
SOD1 (21q22.1)
superoxide dismutase 1, soluble

amyotrophic lateral sclerosis 10 (12.31)
TARDBP (1p36.2)
TAR DNA binding protein

Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.22, 4.17)
VCP (9p13-p12)
valosin-containing protein

amyotrophic lateral sclerosis 9 (12.30)
ANG (14q11.2)
angiogenin

Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.21, 12.22)
SOD1 (21q22.1)
superoxide dismutase 1, soluble

Amyotrophic lateral sclerosis, juvenile (12.23, 15.42)
ALS2 (2q33.2)
alsin

Andermann syndrome (14.63)
SLC12A6 (15q13-q15)
potassium chloride cotransporter KCC3

Androgen insensitivity (12.32)
AR (Xq11.2-q12)
androgen receptor

Arrhythmogenic right ventricular cardiomyopathy 2 (10.73, 10.84)
RYR2 (1q42.1-q43)
ryanodine receptor 2

Arrhythmogenic right ventricular cardiomyopathy 3 (10.74)
? - (14q12-q22)
Arrhythmogenic right ventricular cardiomyopathy 4 (10.75)
? - (2q32.1-q32.3)
Arrhythmogenic right ventricular cardiomyopathy 6 (10.77)
? - (10p14-p12)
Arrhythmogenic right ventricular dysplasia , 7 (10.78)
? - (10q22.3)
Arrhythmogenic right ventricular dysplasia 2 (10.73, 10.84)
RYR2 (1q42.1-q43)
ryanodine receptor 2

Arrhythmogenic right ventricular dysplasia, 1 (10.72)
TGFB3 (14q24.3)
transforming growth factor, beta 3

Arrhythmogenic right ventricular dysplasia, 10 (10.81)
DSG2 (18q12.1)
desmoglein 2

Arrhythmogenic right ventricular dysplasia, 11 (10.82)
DSC2 (18q12.1)
desmocollin 2

Arrhythmogenic right ventricular dysplasia, 8 (10.79)
DSP (6p24)
desmoplakin

Arrhythmogenic right ventricular dysplasia, 9 (10.80)
PKP2 (12p11)
plakophilin 2

Arrhythmogenic right ventricular dysplasia, familial, 1 (10.72)
TGFB3 (14q24.3)
transforming growth factor, beta 3

arrhythmogenic right ventricular dysplasia, familial, 12 (10.86, 10.83)
JUP (17q21)
junction plakoglobin

Arrhythmogenic right ventricular dysplasia, familial, 4 (10.75)
? - (2q32.1-q32.3)
arrhythmogenic right ventricular dysplasia, familial, 5 (10.76, 1.8)
TMEM43 (3p25.1)
transmembrane protein 43

Arrhythmogenic right ventricular dysplasia, familial, 6 (10.77)
? - (10p14-p12)
arrhythmogenic right ventricular dysplasia, familial, 7 (5.5)
? - (10q22)
Arrhythmogenic right ventricular dysplasia-3 (10.74)
? - (14q12-q22)
Arthrogryposis, distal, type 1A (3.4, 3.27, 16.8, 16.13, 3.5)
TPM2 (9p13)
tropomyosin 2 (beta)

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

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

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

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

arthrogryposis, distal, type 2B (3.4, 3.27, 16.8, 16.13, 3.5)
TPM2 (9p13)
tropomyosin 2 (beta)

Asymmetric septal hypertrophy (10.44, 10.10)
ACTC1 (15q11-q14)
actin, alpha, cardiac muscle precursor

ataxia telangiectasia (13.52)
ATM (11q22.3)
ataxia telangiectasia mutated

ataxia telangiectasia-like disorder (13.53)
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A

Ataxia with isolated vitamin E deficiency (13.38)
TTPA (8q13.1-q13.3)
tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.40)
APTX (9p13.3)
aprataxin

Ataxia, Friedreich-like, with selective vitamin E deficiency (13.38)
TTPA (8q13.1-q13.3)
tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)

ataxia, spastic, 1, autosomal dominant (15.47)
? - (12p13)
ataxia, spastic, 2, autosomal recessive (15.48)
? - (17p13)
ATAXIA-oculomotor apraxia 2 (12.25, 13.41)
SETX (9q34.13)
senataxin

atrial fibillation, familial, 8 (10.108)
? - (16q22)
Atrial fibrillation, 1 (10.101)
? - (10q22-q24)
Atrial fibrillation, 2 (10.102)
? - (10q22-q24)
Atrial fibrillation, 3 (10.99, 10.87, 7.17, 7.16, 10.103, 10.97)
KCNQ1 (11p15.5)
potassium voltage-gated channel, KQT-like subfamily, member 1

Atrial fibrillation, 4 (7.18, 10.92, 10.100, 10.104)
KCNE2 (21q22.12)
potassium voltage-gated channel, Isk-related family, member 2

atrial fibrillation, familial (10.107)
KCNA5 (12p13)
potassium voltage-gated channel, shaker-related subfamily, member 5

atrial fibrillation, familial, 1 (10.109, 10.110)
GJA5 (1q21.1)
connexin 40

atrial fibrillation, familial, 5 (10.105)
? - (4q25)
atrial fibrillation, familial, 6 (10.106)
NPPA (1p36)
natriuretic peptide precursor A

Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.13, 4.2, 1.28, 10.33, 10.8, 3.31)
TTN (2q31)
titin

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.46, 13.54)
SACS (13q12)
sacsin

autosomal recessive spastic ataxia with leukoencephalopathy (15.49)
? - (2q33-34)