Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
LAP1B related muscular dystrophy (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



Late onset spinal muscular atrophy related to HEXB (12.107)
HEXB (5q13.3)
Hexosaminidase B



late-onset spinal motor neuronopathy, Jokela type (12.45, 12.86, 16.24)
615048
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10 (M)



Left ventricular noncompaction 10 (10.4, 3.40, 10.76, 10.113)
615396
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



Left ventricular noncompaction 2 (10.105)
609470
? - (11q15)
Left ventricular noncompaction 3 (5.5, 10.41, 4.19, 10.26, 10.106)
601493
LDB3 (10q22)
LIM domain binding 3



Left ventricular noncompaction 4 (3.2, 3.38, 3.1, 3.37, 2.46)
613424
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



Left ventricular noncompaction 5 (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
613426
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



Left ventricular noncompaction 6 (10.2, 10.42, 10.98, 10.109)
601494
TNNT2 (1q32)
Troponin T2, cardiac



Left ventricular noncompaction 7 (10.110)
615092
MIB1 (18q11.2)
Mindbomb homolog 1 (drosophila)



LEFT VENTRICULAR NONCOMPACTION 8 (10.75, 10.111)
615373
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



Left ventricular noncompaction 8 (10.75, 10.111)
615373
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



Left ventricular noncompaction 9 (10.3, 10.62, 10.112)
611878
TPM1 (15q22)
Tropomyosin 1 (alpha)



Lethal congenital contractural syndrome 3 (12.92)
611369
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



Lethal congenital contracture syndrome 1 (12.90)
253310
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)



Lethal Congenital Contracture Syndrome 10 (12.99)
617022
NEK9 (14q24.3)
Never in mitosis gene A-related kinase 9



Lethal Congenital Contracture Syndrome 11 (12.100)
617194
GLDN (15q21.2)
Gliomedin



Lethal congenital contracture syndrome 2 (12.91)
607598
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



Lethal Congenital Contracture Syndrome 4 (17.10, 12.93, 3.55)
614915
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



Lethal Congenital Contracture Syndrome 5 (3.18, 2.15, 4.20, 14.15, 12.94)
615368
DNM2 (19p13.2)
Dynamin 2



Lethal Congenital Contracture Syndrome 6 (12.95)
616248
ZBTB42 (14q32.33)
Zinc finger and BTB domain-containing protein 42



Lethal congenital contracture syndrome 7 (12.96, 14.36)
616286
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



Lethal Congenital Contracture Syndrome 8 (12.97)
616287
ADCY6 (12q13.12)
Adenylate cyclase 6



Lethal Congenital Contracture Syndrome 9 (12.98)
616503
ADGRG6 (6q24.2)
Adhesion G protein-coupled recptor G6



Lethal Congenital Contracture Syndrome related to TTN (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy (13.107)
619688
RNF220 (1p34.1)
Ring finger protein 220



LGMD related to DTNA (10.104)
DTNA (18q12)
Dystrobrevin, alpha



LGMD related to KBTBD13 (3.8)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



LGMD related to PYROXD1 (5.9, 1.58, 3.61)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



LGMDD1 (1.16, 4.24, 4.25)
603511
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6



LGMDD4 (1.24, 1.19)
618129
CAPN3 (15q15.1-q21.1)
Calpain 3



LGMDD5 (2.2, 2.6)
158810
COL6A1 (21q22.3)
Alpha 1 type VI collagen



LGMDD5 (2.5, 2.4, 2.7, 2.12, 2.3)
158810
COL6A2 (21q22.3)
Alpha 2 type VI collagen



LGMDD5 (2.8, 2.4)
158810
COL6A3 (2q37)
Alpha 3 type VI collagen



LGMDR10 (Formerly LGMD2J) (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



LGMDR20 (2.25, 1.48)
616052
CRPPA (7p21.2-p21.1)
Isoprenoid synthase domain containing protein



LGMDR22 (2.2, 2.6)
254090
COL6A1 (21q22.3)
Alpha 1 type VI collagen



LGMDR22 (2.5, 2.4, 2.7, 2.12, 2.3)
254090
COL6A2 (21q22.3)
Alpha 2 type VI collagen



LGMDR22 (2.8, 2.4)
254090
COL6A3 (2q37)
Alpha 3 type VI collagen



LGMDR23 (2.1, 1.37)
618138
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



LGMDR24 (2.26, 1.49)
618135
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



LGMDR26 (1.39)
618848
POPDC3 (6q21)
Popeye domain-containing protein 3



Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 10.46, 5.15, 10.135, 11.44)
602067
DES (2q35)
Desmin



Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
608807
TTN (2q31)
Titin



Limb girdle muscular dystrophy with ophthalmoplegia (5.29, 1.34, 11.36, 1.57)
PLEC (8q24.3)
Plectin



Limb-Girdle, Muscular dystrophy, type 1G (1.18)
609115
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like



Limb-girdle, muscular dystrophy, type 1h (1.21)
613530
? - (3p23-p25)
Limb-Girdle, Muscular dystrophy, type 2M (1.46, 2.36, 2.22, 10.61)
611588
FKTN (9q31-q33)
Fukutin



Limb-girdle, muscular dystrophy, type 2n (2.20, 2.34, 1.44)
613158
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



Limb-girdle, muscular dystrophy, type 2o (2.35, 2.21, 1.45)
613157
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



Limb-girdle, muscular dystrophy, type 2q (5.29, 1.34, 11.36, 1.57)
613723
PLEC (8q24.3)
Plectin



Limb-Girdle, Muscular dystrophy, type 2R (5.1, 10.46, 5.15, 10.135, 11.44)
615325
DES (2q35)
Desmin



Limb-Girdle, Muscular dystrophy, type 2S (1.35, 2.42)
615356
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



Limb-Girdle, Muscular dystrophy, type 2T (1.52, 2.39, 2.32, 11.37)
615352
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.102, 1.54)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



Limb-Girdle, Muscular dystrophy, type 2W (1.55)
616827
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2



Limb-Girdle, Muscular dystrophy, type 2X (1.38)
616812
BVES (6q21)
Blood vessel epicardial substance



Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 11.41)
617072
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



Limb-Girdle, Muscular dystrophy, type 2Z (1.36)
617232
POGLUT1 (3q13.33)
Protein O-Glucosyltransferase 1



Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.34)
255100
FLAD1 (1q21.3)
flavin adenine dinucleotide synthetase, homolog (M)



lipodystrophy, congenital generalized, type 4 (1.13)
613327
CAVIN1 (17q21-q2)
Caveolae-associated protein 1 (M)



Lipodystrophy, familial partial, type 2 (1.3, 1.4, 10.39, 2.17, 14.81)
151660
LMNA (1q22)
Lamin A/C



Long QT syndrome 10 (10.145, 10.174)
611819
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



Long QT syndrome 11 (10.146)
611820
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9



Long QT syndrome 12 (10.147)
612955
SNTA1 (20q11.21)
Syntrophin, alpha 1



Long QT syndrome 13 (10.152, 10.148)
613485
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



Long QT syndrome 14 (10.131, 10.149)
616247
CALM1 (14q32.11)
Calmodulin 1



Long QT syndrome 15 (10.150)
616249
CALM2 (2p21)
Calmodulin 2



Long QT syndrome 16 (10.151, 10.133)
618782
CALM3 (19q13.32)
Calmodulin 3



Long QT syndrome 9 (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
CAV3 (3p25.3)
Caveolin 3



Long QT syndrome-1 (10.156, 10.136, 10.160, 10.154)
192500
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



Long QT syndrome-2 (10.137, 10.153)
152427
KCNH2 (7q36.1)
Voltage-gated potassium channel, subfamily H, member 2



Long QT syndrome-3 (10.138, 10.43, 10.177, 10.187, 10.167)
603830
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



Long QT syndrome-4 (10.139)
600919
ANK2 (4q25-26)
Ankyrin 2



Long QT syndrome-5 (10.140, 10.157)
176261
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



Long QT syndrome-6 (10.141, 10.161)
603796
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



Long QT syndrome-7 (10.155, 10.166, 10.142)
170390
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



Lower motor neuron disease with respiratory failure related to MAPT (12.111)
MAPT (17q21.31 )
Microtubule associated protein Tau



luma related muscular dystrophy (10.119, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



Lysosomal storage myopathy (3.65)
252650
MCOLN1 (19p13.2)
Mucopilin 1