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
Hemiplegic migraine, familial (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

Hemolytic anemia due to PGK deficiency (9.11)
PGK1 (Xq13)
phosphoglycerate kinase 1

Hereditary bundle branch system defect (10.89, 7.7, 10.31, 10.111, 10.116)
SCN5A (3p21)
voltage-gated sodium channel type V alpha

Hereditary motor and sensory neuropathy 2A (14.36)
MFN2 (1p36.22)
mitofusin 2

Hereditary motor and sensory neuropathy V (12.13)
? - (4q34-q35)
Hereditary motor and sensory, neuropathy, proximal, type (14.50)
? - (3q13.1)
Hereditary motor and sensory, type 1C (14.3)
LITAF (16p13.3-p12)
lipopolysaccharide-induced TNF factor

hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.54)
? - (3p24-p22)
Hereditary sensory neuropathy with dementia and hearing loss (14.62)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1

Hereditry myopathy with early respiratory failure (5.13, 4.2, 1.28, 10.33, 10.8, 3.31)
TTN (2q31)
titin

Hutchinson-Gilford progeria syndrome (1.4, 1.12, 1.5, 10.26, 14.51)
LMNA (1q21.2-q21.3)
lamin A/C


Hyalin body myopathy (3.22)
? - (3p22.2-p21.32)
Hydrocephalus with Hirschspung disease and cleft palate (15.43)
L1CAM (Xq28)
L1 cell adhesion molecule

Hyperckemia, idiopathic (1.13, 6.6, 5.17, 6.7, 4.11, 10.95, 10.16)
CAV3 (3p25)
caveolin 3

Hyperkalemic periodic paralysis (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
sodium channel, voltage-gated, type IV, alpha

Hyperkalemic periodic paralysis, type 2 (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
sodium channel, voltage-gated, type IV, alpha

Hypertrophic cardiomyopathy with actinin-2 defect (10.27, 10.23)
ACTN2 (1q42-q43)
actinin alpha2

Hypertrophic cardiomyopathy with cardiac ankyrin repeat domain protein defect (10.60, 10.22)
ANKRD1 (10q23.33)
ankyrin repeat domain 1 (cardiac muscle)

Hypertrophic cardiomyopathy with junctophilin defect (10.19)
JPH2 (20q13.12)
junctophilin-2

Hypertrophic cardiomyopathy with myozenin 2 defect (10.18)
MYOZ2 (4q26)
myozenin 2, or calsarcin 1, a Z disk protein

Hypertrophic cardiomyopathy with nexilin defect (10.63, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)

Hypertrophic cardiomyopathy with phospholamban defect (10.42, 10.20)
PLN (6q22.1)
phospholamban

Hypertrophic mitochondrial cardiomyopathy with MRPL3 defect (10.25)
MRPL3 (3q21-q23)
mitochondrial ribosomal protein L3

Hypertrophic mitochondrial cardiomyopathy with NDUFAF1 defect (10.24)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex

Hypoglycemia hypoketonic, with deficiency of carnitine palmitoyltransferase II (9.15)
CPT2 (1p32)
carnitine palmitoyltransferase II

Hypokalaemic periodic paralysis, type 1 (7.8, 8.5)
CACNA1S (1q32)
calcium channel, voltage-dependent, L type, alpha 1S subunit

Hypokalaemic periodic paralysis, type 3 (7.11)
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3

Hypokalemic periodic paralysis (7.8, 8.5)
CACNA1S (1q32)
calcium channel, voltage-dependent, L type, alpha 1S subunit