Mitochondria Phenome Knowledgebase

Phenotypic Feature Hepatomegaly finds 56 Gene-Feature associations that are associated with 56 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Hepatomegaly gastrointestinal 1945557 2000272 4022672
ACADM 201450 Hepatomegaly liver enlargement gastrointestinal 2380628 9158144 15858970
ACADS 201470 Hepatomegaly hepatosplenomegaly gastrointestinal 3571488 14595061
ACADVL 201475 Hepatomegaly gastrointestinal 9709714 9877038 11433098 11524729
ACSL6 604443 Hepatomegaly enlarged liver gastrointestinal 16572202
ALAS2 301300 Hepatomegaly hepatosplenomegaly gastrointestinal 7949148 10029606
ALDH5A1 271980 Hepatomegaly mild gastrointestinal 9093300
ATP7B 277900 Hepatomegaly gastrointestinal 10745386 15368714 15845031
ATPAF2 604273 Hepatomegaly gastrointestinal 14757859
AUH 250950 Hepatomegaly gastrointestinal 9762598
BCL2 151400 Hepatomegaly gastrointestinal 10733261 11557789
CASP8 607271 Hepatomegaly liver enlarged gastrointestinal 15492869
CPOX 121300 Hepatomegaly neonatal; hepatosplenomegaly gastrointestinal 6886003 9454777 11739202
CPT1A 255120 Hepatomegaly progressive; large liver gastrointestinal 9691089 11286380 11286383 11350182 11441142 12189492 16146704
CPT2 600649 Hepatomegaly moderate gastrointestinal 1999498 8682496 9600456 11477613 12560872
CYBB 306400 Hepatomegaly hepatic mass gastrointestinal 8182143 15468310 16138344
CYP27A1 213700 Hepatomegaly gastrointestinal 12555943
DGUOK 251880 Hepatomegaly ascites gastrointestinal 12205643 12210798 15639197 15883261 15887277 15964659
DLAT 109720 Hepatomegaly gastrointestinal 8900092 16177252
DLD 248600 Hepatomegaly recurrent; episodes gastrointestinal 9298831 9540846 9934985 14765544
DLST 203740 Hepatomegaly liver enlarged gastrointestinal 8295396
ETFA 231680 Hepatomegaly neonatal hepatomegaly gastrointestinal 12815589 16510302
ETFB 231680 Hepatomegaly gastrointestinal 12815589
ETFDH 231680 Hepatomegaly gastrointestinal 12815589 15662686 15669683
FECH 177000 Hepatomegaly ascites gastrointestinal 10433022 10832676 16150949
GCK 602485 Hepatomegaly glycogen elevated gastrointestinal 15277402
HADH 231530 Hepatomegaly gastrointestinal 16725361
HADHA 609015 Hepatomegaly enlarged liver gastrointestinal 8865274 11855930
HADHA 609016 Hepatomegaly gastrointestinal 8736409 9003853 9403664 10352164 12162610 14605499
HK1 235700 Hepatomegaly gastrointestinal 4027385
HMGCL 246450 Hepatomegaly gastrointestinal 1886403 3128690 8440722 9439591 9463337 11461194
HMGCS2 605911 Hepatomegaly mild gastrointestinal 11228257 11479731 12072887 12647205
IVD 243500 Hepatomegaly gastrointestinal 10191353
MCCC2 210210 Hepatomegaly gastrointestinal 1293382 9537490
MLYCD 248360 Hepatomegaly gastrointestinal 12955715
MMAA 251100 Hepatomegaly gastrointestinal 6132336
MMAB 251110 Hepatomegaly gastrointestinal 6132336
MPV17 256810 Hepatomegaly gastrointestinal 2300261 10518083 11431741
NAGS 237310 Hepatomegaly liver enlarged gastrointestinal 7623444
NDUFS1 252010 Hepatomegaly gastrointestinal 11349233
NDUFS4 252010 Hepatomegaly gastrointestinal 10944442
OTC 311250 Hepatomegaly gastrointestinal 8732901 9056557 11148526
PC 266150 Hepatomegaly liver enlarged gastrointestinal 6424438 7503391 15781190 16278852
PDHA1 308930 Hepatomegaly slight hepatomegaly gastrointestinal 8982956
POLG 203700 Hepatomegaly gastrointestinal 15689359
RMRP 250250 Hepatomegaly gastrointestinal 14569125
SCO1 220110 Hepatomegaly gastrointestinal 11013136
SCO2 604377 Hepatomegaly hyperemia gastrointestinal 10545952 10749987
SDHA 252011 Hepatomegaly gastrointestinal 12794685
SLC19A2 249270 Hepatomegaly gastrointestinal 10978358 11380424 14627317 14994241
SLC25A13 603471 Hepatomegaly liver enlarged gastrointestinal 12512993
SLC25A13 605814 Hepatomegaly gastrointestinal 11343052 15542392
SLC25A15 238970 Hepatomegaly gastrointestinal 14759633
SLC25A19 607196 Hepatomegaly gastrointestinal 12185364 12376931
SLC25A20 212138 Hepatomegaly progressive enlargement gastrointestinal 1598097 9399886 10408757 10876004 11350184 12801121 15057979 15365988
TAZ 300183 Hepatomegaly hepatic congestion; vacuolization gastrointestinal 9332651
UQCRB 124000 Hepatomegaly moderate; disappeared progressively gastrointestinal 12709789
UROS 263700 Hepatomegaly hepatosplenomegaly gastrointestinal 9834209 12533808 15065102

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