Mitochondria Phenome Knowledgebase

Phenotypic Feature Fatty-liver finds 36 Gene-Feature associations that are associated with 34 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Fatty-liver Histology findings; slight; hepatic fatty infiltration gastrointestinal 6015890
ACADL 201460 Fatty-liver liver fatty change; steatosis gastrointestinal 2000272
ACADM 201450 Fatty-liver hepatic fatty infiltration; large droplet steatosis gastrointestinal 2246856 2279505 7929823 9350306
ACADS 201470 Fatty-liver fatty changes; microvesicular fat gastrointestinal 3571488
ACADVL 201475 Fatty-liver hepatic fatty infiltration gastrointestinal 7479827
ALAS2 301300 Fatty-liver liver fatty changes gastrointestinal 10029606
ATP7B 277900 Fatty-liver steatosis; fibrosis; lesions; macrovesicular steatosis gastrointestinal 10981891 11060541 12376745 15845031 16381639 16416207
BCS1L 124000 Fatty-liver steatosis; fibrosis; microvesicular fat droplets; periportal necrosis gastrointestinal 12910490
BCS1L 603358 Fatty-liver steatosis; fibrosis; inflammation; portal inflammatory cells; bile ductular proliferation gastrointestinal 7577396 9482441
CPS1 237300 Fatty-liver steatosis; microvesicular; hepatocellular and kupffer cell glycogenosis; multiple intracellular vacuoles probably containing fat gastrointestinal 6465866 9711878
CPT1A 255120 Fatty-liver extensive storage of neutral lipids on oil red O staining; fatty degeneration; macrovesicular fatty changes; microvesicular fatty changes; steatosis gastrointestinal 11286383 11441142 12189492 15669684
CPT2 600649 Fatty-liver steatosis; microvesicular; macrovesicular; fat droplets; swollen hepatocytes; fatty changes gastrointestinal 8682496 9600456 11389301 11477613
DGUOK 251880 Fatty-liver steatosis; fibrosis; microvesicular steatosis; macrovesicular steatosis; hepatocyte swelling; inflammation gastrointestinal 12205643 12210798 15887277 15964659
DNAJC19 608977 Fatty-liver steatosis; microvesicular gastrointestinal 16055927
ETFB 231680 Fatty-liver hepatic fatty infiltration gastrointestinal 9350306 12815589
ETFDH 231680 Fatty-liver fatty degeneration; siderosis; steatosis gastrointestinal 12815589 15669683
HADH 231530 Fatty-liver steatosis; microvesicular; macrovesicular; accumulation of lipid droplets gastrointestinal 10347277 10931422 16725361
HADHA 609015 Fatty-liver steatosis; diffuse gastrointestinal 8865274 10400133 11855930 14630990
HADHA 609016 Fatty-liver steatosis; microvesicular; macrovesicular; pale yellow color; panlobular steatosis; hepatic fibrosis; fatty liver of pregnancy gastrointestinal 7846063 8094173 8736409 9403664 10352164 10518281 12162610 12413376
HADHB 609015 Fatty-liver hepatic steatosis; hepatic fatty infiltration gastrointestinal 12548384
HMGCL 246450 Fatty-liver fatty changes; diffuse gastrointestinal 1886403 3128690 8440722 9463337
HMGCS2 605911 Fatty-liver fatty liver; periportal regions gastrointestinal 9337379 11228257 12647205
IVD 243500 Fatty-liver liver fatty change; extramedullary hematopoiesis gastrointestinal 10191353
LRPPRC 220111 Fatty-liver steatosis; microvesicular gastrointestinal 8392290 8392291
MLYCD 248360 Fatty-liver liver fatty infiltration gastrointestinal 12955715
MPV17 256810 Fatty-liver steatosis; macrovesicular steatosis; microvesicular steatosis gastrointestinal 10518083 11431741
OTC 311250 Fatty-liver microvesicular fat accumulation; centrilobular steatosis; glycogen accumulation; fatty metamorphosis gastrointestinal 429491 3508674 8008687
PC 266150 Fatty-liver steatosis; portal steatosis; portal fibrosis gastrointestinal 10323732 16278852
PCCB 606054 Fatty-liver microvesicular fat accumulation gastrointestinal 10488817
PEO1 271245 Fatty-liver Pathology findings; liver fatty degeneration; liver congestion gastrointestinal 9879682
PEO1 609286 Fatty-liver hepatic fatty infiltration gastrointestinal 1634620
POLG 203700 Fatty-liver steatosis; fibrosis; necrosis gastrointestinal 15929042 16177225
POLG 258450 Fatty-liver steatosis; centrolobular degeneration; liver necrosis gastrointestinal 16638794
SCO1 220110 Fatty-liver steatosis; microvesicular lipidvacuoles gastrointestinal 11013136
SLC25A13 603471 Fatty-liver steatosis; fibrosis; steatohepatitis; non alcoholic steatohepatitis; NASH; fatty infiltration; fat droplets gastrointestinal 11153906 12132524 12512993 16278034
SLC25A13 605814 Fatty-liver diffuse fatty changes; fatty liver; periportal fibrosis; microvesicular fat droplets; macrovesicular fat droplets; inflammatory infiltrations; portal to portal bridging fibrosis gastrointestinal 11281457 11343052 11343053 11793471 12424587 14680984 15542392
SLC25A15 238970 Fatty-liver hepatic fatty infiltration gastrointestinal 16376511
SLC25A20 212138 Fatty-liver steatosis; liver lipic vacuoles; macrovesicular fat accumulation gastrointestinal 9399886 9544911 10876004 11350184 12890396 15365988
TIMM8A 304700 Fatty-liver steatosis gastrointestinal 11803487
CPT1A 255120 Pregnancy-complications hypertension or hemolysis elevated liver enzymes and low platelets; HELLP syndrome; acute fatty liver of pregnancy; AFLP syndrome; hyperemesis gravidarum; obstetric risks genitourinary 10625081
HADHA 609015 Pregnancy-complications hypertension or hemolysis elevated liver enzymes and low platelets; HELLP syndrome; acute fatty liver of pregnancy; AFLP syndrome; hyperemesis gravidarum genitourinary 8865274 14630990
HADHA 609016 Pregnancy-complications hypertension or hemolysis elevated liver enzymes and low platelets; HELLP syndrome; acute fatty liver of pregnancy; AFLP syndrome; hyperemesis gravidarum; preeclampsia; premature birth; perinatal morbidity; perinatal mortality; maternal morbidity; maternal mortality; obstetric risks genitourinary 7846063 8094173 8736409 8931405 10352164 10518281 12413376 14605499

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