Liverbase v2.0
¡¡Database for liver-related genes , proteins and diseases
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Liver GO slim
ID Liver disease SWISS_PROT Name Gene names Description OMIM RepProAc
391 Glycogen storage disease G6PT1_HUMAN SLC37A4 Isoform 2 of glucose-6-phosphate translocase. 232220;232240 IPI00217409
392 Glycogen storage disease PGM1_HUMAN PGM1 Phosphoglucomutase 1. 612934 IPI00217872
393 Glycogen storage disease LDHA_HUMAN LDHA Lactate dehydrogenase a. 612933 IPI00217966
394 Glycogen storage disease PYGM_HUMAN PYGM Glycogen phosphorylase, muscle form. 232600 IPI00218130
395 Glycogen storage disease ENOB_HUMAN ENO3 Beta-enolase. 612932 IPI00218474
396 Glycogen storage disease PGAM2_HUMAN PGAM2 Phosphoglycerate mutase 2. 261670 IPI00218570
397 Glycogen storage disease KPBB_HUMAN PHKB Phosphorylase kinase, beta isoform a. 261750 IPI00218571
398 Glycogen storage disease PGM1_HUMAN PGM1 Phosphoglucomutase 1. 612934 IPI00219526
399 Glycogen storage disease LYAG_HUMAN GAA 106 kda protein. 232300 IPI00293088
400 Glycogen storage disease GYS1_HUMAN GYS1 Glycogen [starch] synthase, muscle. 611556 IPI00303868
401 Glycogen storage disease APOA5_HUMAN APOA5 Apolipoprotein a-v precursor. 144650;145750 IPI00465378
402 Glycogen storage disease ALDOA_HUMAN ALDOA Fructose-bisphosphate aldolase a. 611881 IPI00465439
403 Glycogen storage disease KPBB_HUMAN PHKB Isoform 3 of phosphorylase b kinase regulatory subunit beta. 261750 IPI00514327
404 Glycogen storage disease LDHA_HUMAN LDHA Isoform 2 of l-lactate dehydrogenase a chain. 612933 IPI00607708
405 Glycogen storage disease 15 kda protein. IPI00640568
406 Glycogen storage disease LYAG_HUMAN GAA Lysosomal alpha-glucosidase precursor. 232300 IPI00783446
407 Glycogen storage disease GLGB_HUMAN GBE1 1,4-alpha-glucan branching enzyme. 232500;236750;263570 IPI00296635
408 Glycogen storage disease PHKG2_HUMAN PHKG2 Phosphorylase b kinase gamma catalytic chain, testis/liver isoform. 613027 IPI00012891
409 Glycogen storage disease CP093_HUMAN PHKG2 Conserved hypothetical protein. IPI00787135
410 Glycogen storage disease G6PC_HUMAN G6PC Glucose-6-phosphatase. IPI00019500
411 Glycogen storage disease KPB2_HUMAN PHKA2 Phosphorylase b kinase regulatory subunit alpha, liver isoform. 306000 IPI00004237
412 Glycogen storage disease GDE_HUMAN AGL Isoform 1 of glycogen debranching enzyme. 232400 IPI00514126
413 Hemochromatosis HFE_HUMAN HFE Isoform 1 of hereditary hemochromatosis protein precursor. 176200;612635 IPI00029419
414 Hemochromatosistype3 TFR2_HUMAN TFR2 87 kda protein. 604250 IPI00219901
415 Hemochromatosistype3 TFR2_HUMAN TFR2 Isoform alpha of transferrin receptor protein 2. 604250 IPI00784504
416 Hepaticadenomas HNF1A_HUMAN TCF1 Isoform a of hepatocyte nuclear factor 1-alpha. 142330;222100;600496 IPI00025839
417 Hepatitis MX1_HUMAN MX1 Interferon-induced gtp-binding protein mx1. IPI00167949
418 Hepatitis CO5_HUMAN C5 Complement c5 precursor. 609536 IPI00032291
419 Hepatitis Q59FU8_HUMAN FAS Tumor necrosis factor receptor superfamily, member 6 isoform 1 variant (fragment). IPI00235003
420 Hepatitis E2AK2_HUMAN EIF2AK2 Interferon-induced, double-stranded rna-activated protein kinase. IPI00019463