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
CACNA1A (19p13.2-p13.1)
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

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

Hereditary bundle branch system defect
SCN5A (3p21)
voltage-gated sodium channel type V alpha

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

Hereditary motor and sensory, neuropathy, proximal, type
? - (3q13.1)
Hereditary motor and sensory, type 1C
LITAF (16p13.3-p12)
lipopolysaccharide-induced TNF factor

hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag
? - (3p24-p22)
Hereditry myopathy with early respiratory failure
TTN (2q31)
titin

Hutchinson-Gilford progeria syndrome
LMNA (1q21.2-q21.3)
lamin A/C

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

Hyperckemia, idiopathic
CAV3 (3p25)
caveolin 3

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

Hypertriglyceridemia, one form
APOA1 (11q23-q24)
apolipoprotein A-I precursor

Hypoalphalipoproteinemia
APOA1 (11q23-q24)
apolipoprotein A-I precursor

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

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

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

Hypokalemic periodic paralysis
SCN4A (17q23-q25.3)
sodium channel, voltage-gated, type IV, alpha

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

Hypokalemic periodic paralysis type2
SCN4A (17q23-q25.3)
sodium channel, voltage-gated, type IV, alpha