Mitochondria Phenome Knowledgebase

Phenotypic Feature Liver-enzymes-abnormal finds 46 Gene-Feature associations that are associated with 46 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Liver-enzymes-abnormal ALT elevated gastrointestinal 6015890
ABAT 137150 Liver-enzymes-abnormal liver gamma aminobutyric acid transaminase deficient; liver GABA transaminase deficient gastrointestinal 6148708
ACADL 201460 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 2000272
ACADM 201450 Liver-enzymes-abnormal transaminases abnormal; ALT elevated; AST elevated; GGT elevated gastrointestinal 2279505 7876853 7929823 11346377 12897989
ACADS 201470 Liver-enzymes-abnormal AST elevated gastrointestinal 14595061
ACADVL 201475 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 9546340 9877038 10910451 11433098
ACAT1 203750 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 15877211
ALAS2 301300 Liver-enzymes-abnormal AST elevated; GGT elevated gastrointestinal 8107717 10029606 15477213
ATP7B 277900 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 9160075 10745386 11060541 12376745 12894051 14639035 15368714 15557537 15636319 15909172 16416207
BCS1L 124000 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 11528392 12910490
BCS1L 603358 Liver-enzymes-abnormal transaminases abnormal; elevated transaminases; ALT elevated; AST elevated gastrointestinal 7577396
CPT1A 255120 Liver-enzymes-abnormal AST elevated; ALT elevated; GGT elevated; elevated transaminases gastrointestinal 9691089 10625081 11286380 11286383 11350182 11441142 15669684 16146704
CPT2 255110 Liver-enzymes-abnormal AST elevated; ALT elevated gastrointestinal 8201482 8815169
CPT2 600649 Liver-enzymes-abnormal AST elevated; ALT elevated gastrointestinal 1999498 8682496 9600456 11389301 11477613 12410208
CYP27A1 213700 Liver-enzymes-abnormal transaminases elevated; alkaline phosphatase elevated gastrointestinal 12555943
DGUOK 251880 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 12205643 15883261 15887277 15964659
DLAT 109720 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 8900092 16177252
DLD 248600 Liver-enzymes-abnormal liver transaminases abnormal; ALT elevated; biotinidase abnormal gastrointestinal 9934985 12925875
DNAJC19 608977 Liver-enzymes-abnormal ALT elevated; AST elevated; mildly elevation gastrointestinal 16055927
ETFA 231680 Liver-enzymes-abnormal transaminases elevated gastrointestinal 16510302
FECH 177000 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 9585598 10433022 10832676 16150949
FH 606812 Liver-enzymes-abnormal GGT elevated; AST elevated gastrointestinal 2515378 8200987
GK 307030 Liver-enzymes-abnormal AST elevated gastrointestinal 11479736
HADH 231530 Liver-enzymes-abnormal AST elevated; ALT elevated gastrointestinal 16725361
HADHA 609015 Liver-enzymes-abnormal AST elevated; ALT elevated gastrointestinal 8865274 10400133 11855930 12971428
HADHA 609016 Liver-enzymes-abnormal transaminases elevated; GGT elevated; AST elevated; ALT elevated gastrointestinal 8094173 8736409 8931405 9003853 9403664 10352164 10518281 11855930 12162610 12413376
HADHB 609015 Liver-enzymes-abnormal transaminases elevated; mildly elevated gastrointestinal 16423905
HMGCL 246450 Liver-enzymes-abnormal AST elevated; ALT elevated gastrointestinal 1886403 9439591 9463337 11129331 11461194
HMGCS2 605911 Liver-enzymes-abnormal AST elevated; ALT elevated gastrointestinal 11479731 12647205
MCCC1 210200 Liver-enzymes-abnormal AST elevated gastrointestinal 2738779
MCCC2 210210 Liver-enzymes-abnormal transaminases elevated; mildly elevated gastrointestinal 9537490
MLYCD 248360 Liver-enzymes-abnormal AST elevated; ALT elevated gastrointestinal 12955715
MPV17 256810 Liver-enzymes-abnormal GGT elevated; transaminases elevated gastrointestinal 10518083 11431741
MRPS16 609204 Liver-enzymes-abnormal AST elevated; GGT elevated; liver transaminases abnormal gastrointestinal 15505824
NAGS 237310 Liver-enzymes-abnormal AST elevated; mildly elevated gastrointestinal 15714518
OTC 311250 Liver-enzymes-abnormal ALT elevated; AST elevated; liver transaminases elevated gastrointestinal 429491 3508674 8732901 8829665 9056557
PC 266150 Liver-enzymes-abnormal hepatic enzymes elevated; liver transaminases elevated; ALT elevated; AST elevated gastrointestinal 7503391 15781190 16278852
PCCB 606054 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 10488817
PDHX 245349 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 16566017
POLG 203700 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 15689359 16177225
POLG 258450 Liver-enzymes-abnormal liver enzymes elevated gastrointestinal 14694057 16638794
SCO1 220110 Liver-enzymes-abnormal fibrinogen decreased; factor V decreased gastrointestinal 11013136
SDHA 252011 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 12794685
SLC19A2 249270 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 14994241
SLC25A13 603471 Liver-enzymes-abnormal ASS activity decreased; pancreatic secretory trypsin inhibitor (PSTI) increased gastrointestinal 11153906 12132524 16278034
SLC25A13 605814 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 11281457 11343052 11343053 11999983 12424587 15542392
SLC25A15 238970 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 14759633
SLC25A20 212138 Liver-enzymes-abnormal transaminases elevated; AST elevated; ALT elevated gastrointestinal 9686371 10408757 10876004 12801121 15159657 15365988
TK2 609560 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 12269728
UQCRB 124000 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 12709789
UROS 263700 Liver-enzymes-abnormal ALT elevated; AST elevated gastrointestinal 12533808 15065102

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