Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
LAP1B related muscular dystrophy (1.9, 1.45)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



Late onset spinal muscular atrophy related to HEXB (12.76)
HEXB (5q13.3)
Hexosaminidase B



late-onset spinal motor neuronopathy, Jokela type (12.33, 12.65, 16.30)
615048
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10 (M)



LEFT VENTRICULAR NONCOMPACTION 8 (10.68)
615373
PRDM1 (1p36.32)
PR Domain-Containing Protein 16



Left ventricular noncompaction with congenital heart defects (10.84)
606617
DTNA (18q12)
Dystrobrevin, alpha



Left ventricular noncompaction, familial isolated (10.84)
604169
DTNA (18q12)
Dystrobrevin, alpha



Lethal congenital contractural syndrome 3 (12.70)
611369
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



Lethal congenital contracture syndrome 1 (12.68)
253310
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)



Lethal congenital contracture syndrome 2 (12.69)
607598
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



Limb girdle muscular dystrophy 1D (autosomal dominant) (1.16)
603511
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6



Limb girdle muscular dystrophy 1E (autosomal dominant) (5.2, 1.17, 10.41, 1.38)
602067
DES (2q35)
Desmin



Limb girdle muscular dystrophy 2J (autosomal recessive) (5.16, 3.22, 4.2, 1.30, 10.39, 10.8, 3.41)
608807
TTN (2q31)
Titin



Limb girdle muscular dystrophy with ophthalmoplegia (5.17, 1.37, 11.31, 1.49)
PLEC (8q24.3)
plectin



Limb-Girdle, Muscular dystrophy, type 1G (1.19)
609115
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like



Limb-girdle, muscular dystrophy, type 1h (1.20)
613530
? - (3p23-p25)
Limb-Girdle, Muscular dystrophy, type 2M (2.19, 2.20, 10.55, 1.33)
611588
FKTN (9q31-q33)
Fukutin



Limb-girdle, muscular dystrophy, type 2n (2.22, 2.30, 1.34)
613158
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



Limb-girdle, muscular dystrophy, type 2o (2.28, 2.24, 1.35)
613157
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



Limb-girdle, muscular dystrophy, type 2q (5.17, 1.37, 11.31, 1.49)
613723
PLEC (8q24.3)
plectin



Limb-Girdle, Muscular dystrophy, type 2R (5.2, 1.17, 10.41, 1.38)
615325
DES (2q35)
Desmin



Limb-Girdle, Muscular dystrophy, type 2S (1.39, 2.46)
615356
TRAPPC11 (4q35.1)
trafficking protein particle complex 11



Limb-Girdle, Muscular dystrophy, type 2T (1.40, 2.41, 2.31, 11.33)
615352
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.82, 1.42)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



Limb-Girdle, Muscular dystrophy, type 2W (1.43)
616827
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2



Limb-Girdle, Muscular dystrophy, type 2X (1.44)
616812
BVES (6q21)
blood vessel epicardial substance



Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 1.45)
617072
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



Limb-Girdle, Muscular dystrophy, type 2Z (1.46)
617232
POGLUT1 (3q13.33)
Protein O-Glucosyltransferase 1



Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.30)
255100
FLAD1 (1q21.3)
flavin adenine dinucleotide synthetase, homolog (M)



lipodystrophy, congenital generalized, type 4 (1.12)
613327
PTRF (17q21-q23)
Polymerase I and transcript release factor (M)



Lipodystrophy, familial partial, type 2 (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
151660
LMNA (1q22)
Lamin A/C



Long QT syndrome 10 (10.113, 10.139)
611819
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



Long QT syndrome 11 (10.114)
611820
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9



Long QT syndrome 12 (10.115)
612955
SNTA1 (20q11.21)
Syntrophin, alpha 1



Long QT syndrome 13 (10.116)
613485
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



Long QT syndrome 14 (10.101, 10.117)
616247
CALM1 (14q32.11)
Calmodulin 1



Long QT syndrome 15 (10.118)
616249
CALM2 (2p21)
Calmodulin 2



Long QT syndrome 9 (1.15, 6.6, 5.20, 6.7, 4.11, 10.112, 10.16)
CAV3 (3p25)
Caveolin 3



Long QT syndrome-1 (10.122, 10.104, 7.17, 7.16, 10.126, 10.120)
192500
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



Long QT syndrome-2 (10.105, 7.15, 10.119)
152427
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2



Long QT syndrome-3 (10.106, 7.7, 10.38, 10.141, 10.151)
603830
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



Long QT syndrome-4 (10.107)
600919
ANK2 (4q25-q27)
Ankyrin 2



Long QT syndrome-5 (10.108, 7.19)
176261
KCNE1 (21q22.1-q22.2)
Potassium voltage-gated channel, Isk-related family, member 1



Long QT syndrome-6 (7.18, 10.109, 10.123, 10.127)
603796
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



Long QT syndrome-7 (7.14, 10.110, 10.121, 10.132)
170390
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



luma related muscular dystrophy (10.90, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43