Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
LAP1B related muscular dystrophy (1.9, 11.41) | ||
Late onset spinal muscular atrophy related to HEXB (12.104) | ||
late-onset spinal motor neuronopathy, Jokela type (12.44, 12.82, 16.63) | 615048 | |
Left ventricular noncompaction 10 (10.4, 3.53, 10.77, 10.113) | 615396 | |
Left ventricular noncompaction 2 (10.105) | 609470 | ? - (11q15) |
Left ventricular noncompaction 3 (5.5, 10.42, 4.19, 10.26, 10.106) | 601493 | |
Left ventricular noncompaction 4 (3.2, 3.52, 3.1, 3.3) | 613424 | |
Left ventricular noncompaction 5 (4.6, 3.32, 10.57, 3.51, 10.108, 3.33) | 613426 | |
Left ventricular noncompaction 6 (10.2, 10.43, 10.98, 10.109) | 601494 | |
Left ventricular noncompaction 7 (10.110) | 615092 | |
LEFT VENTRICULAR NONCOMPACTION 8 (10.76, 10.111) | 615373 | |
Left ventricular noncompaction 8 (10.76, 10.111) | 615373 | |
Left ventricular noncompaction 9 (10.3, 10.63, 10.112) | 611878 | |
Lethal congenital contractural syndrome 3 (12.89) | 611369 | |
Lethal congenital contracture syndrome 1 (12.87) | 253310 | |
Lethal Congenital Contracture Syndrome 10 (12.96) | 617022 | |
Lethal Congenital Contracture Syndrome 11 (12.97) | 617194 | |
Lethal congenital contracture syndrome 2 (12.88) | 607598 | |
Lethal Congenital Contracture Syndrome 4 (16.10, 12.90, 3.44) | 614915 | |
Lethal Congenital Contracture Syndrome 5 (3.19, 2.15, 4.20, 14.16, 12.91) | 615368 | |
Lethal Congenital Contracture Syndrome 6 (12.92) | 616248 | |
Lethal congenital contracture syndrome 7 (12.93, 14.42) | 616286 | |
Lethal Congenital Contracture Syndrome 8 (12.94) | 616287 | |
Lethal Congenital Contracture Syndrome 9 (12.95) | 616503 | |
Lethal Congenital Contracture Syndrome related to TTN (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98) | ||
Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy (13.107) | 619688 | |
LGMD related to DTNA (10.104, 1.61) | ||
LGMD related to KBTBD13 (3.9, ) | ||
LGMD related to PYROXD1 (5.9, 1.60, 3.59) | ||
LGMDD1 (1.16, 4.24, 4.25) | 603511 | |
LGMDD4 (1.25, 1.19) | 618129 | |
LGMDD5 (2.2, 2.6, 1.38, 1.20) | 158810 | |
LGMDD5 (2.5, 2.4, 2.7, 2.12, 1.39, 1.21, 2.3) | 158810 | |
LGMDD5 (2.8, 2.4, 1.40, 1.22) | 158810 | |
LGMDR10 (Formerly LGMD2J) (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98) | ||
LGMDR20 (2.24, 1.51) | 616052 | |
LGMDR22 (2.2, 2.6, 1.38, 1.20) | 254090 | |
LGMDR22 (2.5, 2.4, 2.7, 2.12, 1.39, 1.21, 2.3) | 254090 | |
LGMDR22 (2.8, 2.4, 1.40, 1.22) | 254090 | |
LGMDR23 (2.1, 1.41) | 618138 | |
LGMDR24 (2.25, 1.52) | 618135 | |
LGMDR26 (1.43) | 618848 | |
Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 10.47, 5.15, 10.135, 11.44) | 602067 | |
Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98) | 608807 | |
Limb girdle muscular dystrophy with ophthalmoplegia (5.27, 1.35, 11.36, 1.59) | ||
Limb-Girdle, Muscular dystrophy, type 1G (1.18) | 609115 | |
Limb-girdle, muscular dystrophy, type 1h () | 613530 | ? - (3p23-p25) |
Limb-Girdle, Muscular dystrophy, type 2M (2.35, 2.21, 10.62, ) | 611588 | |
Limb-girdle, muscular dystrophy, type 2n (2.19, 2.33, 1.47) | 613158 | |
Limb-girdle, muscular dystrophy, type 2o (2.34, 2.20, 1.48) | 613157 | |
Limb-girdle, muscular dystrophy, type 2q (5.27, 1.35, 11.36, 1.59) | 613723 | |
Limb-Girdle, Muscular dystrophy, type 2R (5.1, 10.47, 5.15, 10.135, 11.44) | 615325 | |
Limb-Girdle, Muscular dystrophy, type 2S (1.36, 2.51) | 615356 | |
Limb-Girdle, Muscular dystrophy, type 2T (1.55, 2.38, 2.31, 11.37) | 615352 | |
Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.102, ) | ||
Limb-Girdle, Muscular dystrophy, type 2W (1.57) | 616827 | |
Limb-Girdle, Muscular dystrophy, type 2X (1.42) | 616812 | |
Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 11.41) | 617072 | |
Limb-Girdle, Muscular dystrophy, type 2Z (1.37) | 617232 | |
Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.30) | 255100 | |
lipodystrophy, congenital generalized, type 4 (1.13) | 613327 | |
Lipodystrophy, familial partial, type 2 (1.3, 1.4, 10.40, 2.17, 14.88) | 151660 | |
Long QT syndrome 10 (10.145, 10.174) | 611819 | |
Long QT syndrome 11 (10.146) | 611820 | |
Long QT syndrome 12 (10.147) | 612955 | |
Long QT syndrome 13 (10.152, 10.148) | 613485 | |
Long QT syndrome 14 (10.131, 10.149) | 616247 | |
Long QT syndrome 15 (10.150) | 616249 | |
Long QT syndrome 16 (10.151, 10.133) | 618782 | |
Long QT syndrome 9 (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16) | ||
Long QT syndrome-1 (10.156, 10.136, 10.160, 10.154) | 192500 | |
Long QT syndrome-2 (10.137, 10.153) | 152427 | |
Long QT syndrome-3 (10.138, 10.44, 10.177, 10.187, 10.167) | 603830 | |
Long QT syndrome-4 (10.139) | 600919 | |
Long QT syndrome-5 (10.140, 10.157) | 176261 | |
Long QT syndrome-6 (10.141, 10.161) | 603796 | |
Long QT syndrome-7 (10.155, 10.166, 10.142) | 170390 | |
Lower motor neuron disease with respiratory failure related to MAPT (12.108) | ||
luma related muscular dystrophy (10.119, 1.8) | ||
Lysosomal storage myopathy (5.45) | 252650 |