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
MTTP (4q23)
microsomal triglyceride transfer protein

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

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

Adhalinopathy, primary
SGCA (17q21)
alpha sarcoglycan

Adrenoleukodystrophy
ABCD1 (Xq28)
ATP-binding cassette, sub-family D (ALD), member 1

Adrenomyeloneuropathy
ABCD1 (Xq28)
ATP-binding cassette, sub-family D (ALD), member 1

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

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

Amyloid neuropathy, familial, several allelic types
TTR (18q12.1)
transthyretin (prealbumin, amyloidosis type I)

Amyloidosis, 3 or more types
APOA1 (11q23-q24)
apolipoprotein A-I precursor

Amyloidosis, Finnish type
GSN (9q33)
gelsolin

Amyloidosis, senile systemic
TTR (18q12.1)
transthyretin (prealbumin, amyloidosis type I)

Amyotrophic lateral sclerosis
? - (18q21)
Amyotrophic lateral sclerosis
? - (15q15-q21)
Amyotrophic lateral sclerosis
FUS (16q12)
fusion (involved in t(12;16) in malignant liposarcoma)

Amyotrophic lateral sclerosis
? - (20p13)
Amyotrophic lateral sclerosis
VAPB (7p15)
vesicle-associated membrane protein-associated protein B and C

Amyotrophic lateral sclerosis 1
SOD1 (21q22.1)
superoxide dismutase 1, soluble

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

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

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

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

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

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

ApoA-I and apoC-III deficiency, combined
APOA1 (11q23-q24)
apolipoprotein A-I precursor

Arrhythmogenic right ventricular cardiomyopathy 1
? - (14q23-q24)
Arrhythmogenic right ventricular cardiomyopathy 2
RYR2 (1q42.1-q43)
ryanodine receptor 2

Arrhythmogenic right ventricular cardiomyopathy 3
? - (14q12-q22)
Arrhythmogenic right ventricular cardiomyopathy 4
? - (2q32.1-q32.3)
Arrhythmogenic right ventricular cardiomyopathy 5
? - (3p23)
Arrhythmogenic right ventricular cardiomyopathy 6
? - (10p14-p12)
Arrhythmogenic right ventricular dysplasia , 7
? - (10q22.3)
Arrhythmogenic right ventricular dysplasia 2
RYR2 (1q42.1-q43)
ryanodine receptor 2

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

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

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

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

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

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

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

Arrhythmogenic right ventricular dysplasia, familial, 4
? - (2q32.1-q32.3)
Arrhythmogenic right ventricular dysplasia, familial, 5
? - (3p23)
arrhythmogenic right ventricular dysplasia, familial, 5
TMEM43 (3p25.1)
transmembrane protein 43

Arrhythmogenic right ventricular dysplasia, familial, 6
? - (10p14-p12)
Arrhythmogenic right ventricular dysplasia-3
? - (14q12-q22)
arthrogryposis multiplex congenita,distal,type IA
TPM2 (9p13.2-p13.1)
tropomyosin 2 (beta)

Arthrogryposis, distal, type 1
TPM2 (9p13.2-p13.1)
tropomyosin 2 (beta)

arthrogryposis, distal, type 2
TPM2 (9p13.2-p13.1)
tropomyosin 2 (beta)

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

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

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

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

Asymetric septal hypertrophy, hereditary
MYH6 (14q12)
myosin heavy chain 6

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

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

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

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

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

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

ataxia, spastic, 1, autosomal dominant
? - (12p13)
ataxia, spastic, 2, autosomal recessive
? - (17p13)
atrial fibillation, familial, 8
? - (16q22)
Atrial fibrillation, 1
KCNE2 (21q22.12)
potassium voltage-gated channel, Isk-related family, member 2

Atrial fibrillation, 2
? - (10q22-q24)
Atrial fibrillation, 3
? - (6q14-q16)
atrial fibrillation, familial
KCNA5 (12p13)
potassium voltage-gated channel, shaker-related subfamily, member 5

Atrial fibrillation, familial, 1
KCNQ1 (11p15.5)
potassium voltage-gated channel, KQT-like subfamily, member 1

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

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

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

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