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
Left ventricular noncompaction with congenital heart defects (10.70)
DTNA (18q12)
dystrobrevin, alpha

Left ventricular noncompaction, familial isolated (10.70)
DTNA (18q12)
dystrobrevin, alpha

Lethal congenital contractural syndrome 3 (12.35)
PIP5K1C (19p13.3)
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma

Lethal congenital contracture syndrome 1 (12.33)
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)

Lethal congenital contracture syndrome 2 (12.34)
ERBB3 (12q13)
v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)

Limb girdle muscular dystrophy 1D (autosomal dominant) (1.14)
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6

Limb girdle muscular dystrophy 1E (autosomal dominant) (1.15)
? - (6q23)
Limb girdle muscular dystrophy 2J (autosomal recessive) (5.13, 4.2, 1.28, 10.33, 10.8, 3.31)
TTN (2q31)
titin

Limb-girdle, muscular dystrophy, type 1h (1.18)
? - (3p23-p25)
Limb-girdle, muscular dystrophy, type 2m (2.5, 2.6, 10.53, 1.31)
FKTN (9q31-q33)
fukutin

Limb-girdle, muscular dystrophy, type 2n (2.8, 2.13, 1.32)
POMT2 (14q24.3)
protein-O-mannosyltransferase 2

Limb-girdle, muscular dystrophy, type 2o (2.11, 2.10, 1.33)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase

Limb-girdle, muscular dystrophy, type 2q (5.14, 1.34, 11.22)
PLEC1 (8q24)
plectin 1, intermediate filament binding protein 500kDa

lipodystrophy, congenital generalized, type 4 (1.10)
PTRF (17q21-q23)
polymerase I and transcript release factor

Lipodystrophy, familial partial, type 2 (1.4, 1.12, 1.5, 10.26, 14.51)
LMNA (1q21.2-q21.3)
lamin A/C


Long QT syndrome 9 (1.13, 6.6, 5.17, 6.7, 4.11, 10.95, 10.16)
CAV3 (3p25)
caveolin 3

Long QT syndrome-1 (10.99, 10.87, 7.17, 7.16, 10.103, 10.97)
KCNQ1 (11p15.5)
potassium voltage-gated channel, KQT-like subfamily, member 1

Long QT syndrome-2 (10.88, 7.15, 10.96)
KCNH2 (7q35-q36)
voltage-gated potassium channel, subfamily H, member 2

Long QT syndrome-3 (10.89, 7.7, 10.31, 10.111, 10.116)
SCN5A (3p21)
voltage-gated sodium channel type V alpha

Long QT syndrome-4 (10.90)
ANK2 (4q25-q27)
ankyrin 2

Long QT syndrome-5 (10.91, 7.19)
KCNE1 (21q22.1-q22.2)
potassium voltage-gated channel, Isk-related family, member 1

Long QT syndrome-6 (7.18, 10.92, 10.100, 10.104)
KCNE2 (21q22.12)
potassium voltage-gated channel, Isk-related family, member 2

Long QT syndrome-7 (7.14, 10.93, 10.98)
KCNJ2 (17q23)
potassium inwardly-rectifying channel J2

luma related muscular dystrophy (10.76, 1.8)
TMEM43 (3p25.1)
transmembrane protein 43