Mitochondria Phenome Knowledgebase

Phenotypic Feature Liver-diseases finds 80 Gene-Feature associations that are associated with 79 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Liver-diseases gastrointestinal #6015890
ABAT 137150 Liver-diseases gastrointestinal #6148708
ACADL 201460 Liver-diseases gastrointestinal #1945557 #2000272 #4022672
ACADM 201450 Liver-diseases hepatic failure; hepatic coma; liver function abnormal gastrointestinal #2246856 2279505 #2380628 #7876853 7929823 #9158144 #9350306 #11346377 11524729 #12897989 #15858970
ACADS 201470 Liver-diseases hepatocellular necrosis gastrointestinal 3571488 #14595061
ACADVL 201475 Liver-diseases hepatic symptoms; impaired liver function gastrointestinal #7479827 7494405 #9546340 #9709714 #9877038 #10910451 #11433098 11524729
ACAT1 203750 Liver-diseases gastrointestinal #15877211
ACSL6 604443 Liver-diseases gastrointestinal #16572202
ALAS2 301300 Liver-diseases gastrointestinal #7949148 #8107717 #10029606 #15477213 #16540354
ALDH5A1 271980 Liver-diseases gastrointestinal #9093300
ATP7B 277900 Liver-diseases hepatic failure; hepatic coma; liver necrosis; hepato lenticular degeneration gastrointestinal 682676 759736 2991870 8229372 #8585490 8734560 #9160075 9706533 10721669 #10745386 10981891 #11060541 11454376 #12376745 #12894051 #14639035 #15368714 #15557537 #15609699 #15636319 15845031 #15909172 15952988 #16381639 #16416207
ATPAF2 604273 Liver-diseases gastrointestinal #14757859
AUH 250950 Liver-diseases gastrointestinal #9762598
BCL2 151400 Liver-diseases gastrointestinal #10733261 #11557789
BCS1L 124000 Liver-diseases hepatic failure; hepatic coma; liver dysfunction gastrointestinal 11528392 12910490
BCS1L 603358 Liver-diseases hepatic failure; hepatic coma; hepatic dysfunction; sinusoidal Kupffer cells; paucity of intrahepatic small bileducts gastrointestinal 7577396 9482441
CASP8 607271 Liver-diseases gastrointestinal #15492869
CPOX 121300 Liver-diseases map like appearance of the liver surface; slightly depressed dark bluish areas and reddish brown areas; liver biopsy showed red fluorescence; hydropic degeneration of hepatocytes; needle shaped crystallines gastrointestinal #6886003 7616659 #9454777 #11739202
CPS1 237300 Liver-diseases gastrointestinal #6465866 #9711878
CPT1A 255120 Liver-diseases hepatic dysfunction; liver dysfunction gastrointestinal #9691089 10625081 #11286380 #11286383 #11350182 #11441142 #12189492 15669684 #16146704
CPT2 255110 Liver-diseases gastrointestinal #8201482 #8815169
CPT2 600649 Liver-diseases liver calcifications; liver dysfunction gastrointestinal #1999498 #8682496 9600456 11389301 #11477613 12410208 #12560872
CYBA 233690 Liver-diseases liver abscesses; hepatic abscesses gastrointestinal 10910929 12073015 16157492
CYBB 306400 Liver-diseases liver abscesses; hepatic abscesses; liver cysts; calcified lesions gastrointestinal 1974155 8182143 10068684 11435314 11997083 12094329 15082894 15308575 15468310 #16138344
CYP27A1 213700 Liver-diseases hepatocellular dysfunction; giant cell transformation; high number of nuclei per hepatocyte; bile duct proliferation; liver failure gastrointestinal #12555943 #14572142 15795599
DGUOK 251880 Liver-diseases hepatic failure; pseudoacinar transformation of hepatocytes; focal ground glass appearance; portal hypertension; hepatocellular insufficiency; glycogen depletion; cytolysis gastrointestinal 11687800 12205643 12210798 15639197 15883261 15887277 #15964659 16263314
DLAT 109720 Cholestasis destruction; intraheptic bile ducts; bile acids elevated; cholestatic liver diseases gastrointestinal 7956610 8900092 10807520 14708897
DLAT 109720 Liver-diseases autoimmune; inflammation; hepatic failure; scarring; portal hypertension; nodular regenerative hyperplasia; liver damage; liver fibrosis gastrointestinal 3174635 7956610 8900092 10807520 #14708897 #16177252
DLD 248600 Liver-diseases liver dysfunction; hepatic failure; hepatopathy; inflammation; fibrosis; glycogen abnormal gastrointestinal 9298831 #9540846 9934985 12925875 14765544
DLST 203740 Liver-diseases gastrointestinal #8295396
DNAJC19 608977 Liver-diseases gastrointestinal #16055927
ECGF1 603041 Liver-diseases hepatopathy gastrointestinal #15607208 16178026
ETFA 231680 Liver-diseases liver dysfunction gastrointestinal 12486872 #12815589 #16510302
ETFB 231680 Liver-diseases gastrointestinal #9350306 #12815589
ETFDH 231680 Liver-diseases gastrointestinal #12815589 #15662686 #15669683
FECH 177000 Liver-diseases hepatic failure; birefringent protoporphyrin pigment deposits; hepatocytes abnormal; Kupffer cells; biliary structures abnormal; star burst patterns; liver necrosis; porphyric liver disease; blue patches; hepatic damage gastrointestinal 1251847 1755842 7910885 8244265 8500787 8873010 9585598 9649563 10433022 10832676 10942404 #16150949 16315313
FH 606812 Liver-diseases vacuolization of hepatocytes; inflammation; infiltrates; interlobular infiltrates; liver fibrosis; hepatocellular damage gastrointestinal 2515378 8200987
GCK 602485 Liver-diseases gastrointestinal #15277402
GFM1 609060 Liver-diseases hepatopathy; liver necrosis; hepatic failure gastrointestinal 15537906
GK 307030 Liver-diseases gastrointestinal #11479736
HADH 231530 Liver-diseases hepatopathy; liver necrosis; hepatic failure; hepatic dysfunction gastrointestinal #10347277 #10931422 16176262 16725361
HADHA 609015 Liver-diseases hepatic phenotype gastrointestinal #8865274 #10400133 #11855930 #12971428 14630990 15902556
HADHA 609016 Liver-diseases liver failure; hepatopathy gastrointestinal 7846063 8094173 #8736409 8931405 #9003853 #9403664 10352164 #10518281 #11855930 #12162610 #12413376 #14605499
HADHB 609015 Liver-diseases hepatic failure gastrointestinal 9259266 #12548384 15902556 #16423905
HK1 235700 Liver-diseases gastrointestinal #4027385
HMGCL 246450 Liver-diseases liver dysfunction gastrointestinal #1886403 #3128690 #8440722 #9439591 #9463337 11129331 #11461194
HMGCS2 605911 Liver-diseases gastrointestinal #9337379 #11228257 #11479731 #12072887 #12647205
IVD 243500 Liver-diseases gastrointestinal #10191353
LRPPRC 220111 Liver-diseases gastrointestinal #8392290 #8392291
MCCC1 210200 Liver-diseases gastrointestinal #2738779
MCCC2 210210 Liver-diseases gastrointestinal #1293382 #9537490
MLYCD 248360 Liver-diseases gastrointestinal #12955715
MMAA 251100 Liver-diseases gastrointestinal #6132336
MMAB 251110 Liver-diseases gastrointestinal #6132336
MPV17 251880 Liver-diseases liver failure gastrointestinal 16582910
MPV17 256810 Liver-diseases hepatic failure; hepatopathy; liver fibrosis; intracellular glycogen accumulation; multinucleated giant cells gastrointestinal #185990 2300261 10518083 11431741 16909392
MRPS16 609204 Liver-diseases gastrointestinal #15505824
NAGS 237310 Liver-diseases glycogen abnormal; glycogen elevated; eosinophilic inclusions gastrointestinal 3936265 #7623444 #9877039 12447942 #12754705 #15714518
NDUFS1 252010 Liver-diseases gastrointestinal #11349233
NDUFS4 252010 Liver-diseases gastrointestinal #10944442
OTC 311250 Liver-diseases hepatic dysfunction; hepatocellular dysfunction gastrointestinal #429491 #3508674 #8008687 8732901 #8829665 #9056557 #11148526 12403252
PC 266150 Liver-diseases liver failure gastrointestinal #6424438 #7503391 #10323732 #15781190 16278852
PCCB 606054 Liver-diseases gastrointestinal #10488817
PCK2 261650 Liver-diseases hepatic failure; liver impairment; hepatocellular failure gastrointestinal 2044592 3089795 9657976
PDHA1 308930 Liver-diseases gastrointestinal #8982956
PDHX 245349 Liver-diseases gastrointestinal #16566017
PEO1 271245 Liver-diseases gastrointestinal #9879682
PEO1 609286 Liver-diseases gastrointestinal #1634620
POLG 203700 Liver-diseases hepatic failure; hepatopathy; cenrilobular necrosis gastrointestinal #15689359 15929042 16177225 16545482 16621917
POLG 258450 Liver-diseases valproate induced; liver failure; hepatic failure; acute liver necrosis gastrointestinal 14694057 16638794
RMRP 250250 Liver-diseases gastrointestinal #14569125
SCO1 220110 Liver-diseases hepatic failure gastrointestinal 11013136
SCO2 604377 Liver-diseases hepatic congestion; hepathopathy gastrointestinal 10545952 #10749987 16326995
SDHA 252011 Liver-diseases gastrointestinal #12794685
SLC19A2 249270 Liver-diseases gastrointestinal #10978358 #11380424 #14627317 #14994241
SLC25A13 603471 Liver-diseases hepatopathy; liver failure; pericentral fibrosis; periportal fibrosis; glycogen nuclei gastrointestinal 11153906 12132524 12512993 16278034
SLC25A13 605814 Liver-diseases liver dysfunction; hepatic failure; progressive; liver damage; giant cell transformation gastrointestinal 11281457 #11343052 #11343053 #11793471 11999983 12424587 14680984 15542392
SLC25A15 238970 Liver-diseases gastrointestinal #14759633 #16376511
SLC25A19 607196 Liver-diseases gastrointestinal #12185364 #12376931
SLC25A20 212138 Liver-diseases liver dysfunction; liver insufficiency; reduced liver function gastrointestinal 1598097 9399886 #9544911 #9686371 10408757 #10876004 #11350184 #12801121 #12890396 #15057979 #15159657 15365988
SURF1 220110 Liver-diseases hepatic involvement gastrointestinal 14557577
TAZ 300183 Liver-diseases gastrointestinal #9332651
TIMM8A 304700 Liver-diseases gastrointestinal #11803487
TK2 609560 Liver-diseases gastrointestinal #12269728
TP53 114550 Liver-diseases gastrointestinal #8191284 #8640905 #10389750
UQCRB 124000 Liver-diseases gastrointestinal #12709789
UROS 263700 Liver-diseases liver dysfunction; hepatic cytolysis; hepatic insufficiency gastrointestinal #9834209 11121156 12533808 #15065102

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons