Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCB11 gene ABCB11 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic 2, MIM# 601847" Liver failure;HP:0001399 9806540 False 3 100;0;0 1.25 True ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic 3, MIM# 602347" Liver failure;HP:0001399 17726488 False 3 100;0;0 1.25 True ENSG00000005471 ENSG00000005471 HGNC:45 ACADM gene ACADM Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450" Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000117054 ENSG00000117054 HGNC:89 AKR1D1 gene AKR1D1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 2, MIM# 235555" Liver failure;HP:0001399 12970144;20522910 False 3 100;0;0 1.25 True ENSG00000122787 ENSG00000122787 HGNC:388 ALDOB gene ALDOB Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Fructose intolerance, hereditary, MIM# 229600" Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000136872 ENSG00000136872 HGNC:417 ALMS1 gene ALMS1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Alstrom syndrome, MIM# 203800" Liver failure;HP:0001399 25296579 False 3 100;0;0 1.25 True ENSG00000116127 ENSG00000116127 HGNC:428 AMACR gene AMACR Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 4, MIM# 214950" Liver failure;HP:0001399 31951345;24735479;12512044;10655068 False 3 100;0;0 1.25 True ENSG00000242110 ENSG00000242110 HGNC:451 ATP6AP1 gene ATP6AP1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 47, MIM# 300972" Liver failure;HP:0001399 27231034;32216104;32058063;29192153 False 3 100;0;0 1.25 True ENSG00000071553 ENSG00000071553 HGNC:868 ATP6AP2 gene ATP6AP2 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Congenital disorder of glycosylation, type IIr, MIM# 301045" Liver failure;HP:0001399 29127204;29388887 False 3 100;0;0 1.25 True ENSG00000182220 ENSG00000182220 HGNC:18305 ATP7B gene ATP7B Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM#277900 Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic 1, MIM# 211600" Liver failure;HP:0001399 15239083 False 3 100;0;0 1.25 True ENSG00000081923 ENSG00000081923 HGNC:3706 BCS1L gene BCS1L Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal GRACILE syndrome, MIM# 603358;Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400 Liver failure;HP:0001399 12910490;12215968;21274865 False 3 100;0;0 1.25 True ENSG00000074582 ENSG00000074582 HGNC:1020 CCDC115 gene CCDC115 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIo, MIM# 616828" Liver failure;HP:0001399 26833332;29759592 False 3 100;0;0 1.25 True ENSG00000136710 ENSG00000136710 HGNC:28178 CPT2 gene CPT2 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "CPT II deficiency, infantile, MIM# 600649" Liver failure;HP:0001399 8651281;1528846;12410208 False 3 100;0;0 1.25 True ENSG00000157184 ENSG00000157184 HGNC:2330 CYP7B1 gene CYP7B1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 3, MIM# 613812" Liver failure;HP:0001399 9802883;31337596;21567895;24658845 False 3 100;0;0 1.25 True ENSG00000172817 ENSG00000172817 HGNC:2652 DGUOK gene DGUOK Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880 Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000114956 ENSG00000114956 HGNC:2858 FAH gene FAH Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I, MIM#276700 Liver failure;HP:0001399 15759101 False 3 100;0;0 1.25 True ENSG00000103876 ENSG00000103876 HGNC:3579 FH gene FH Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, MIM#606812 Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000091483 ENSG00000091483 HGNC:3700 FOCAD gene FOCAD Expert Review Green;Literature Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Liver disease, severe congenital, MIM# 619991 Liver failure;HP:0001399 PMID: 35864190 False 3 100;0;0 1.25 True ENSG00000188352 ENSG00000188352 HGNC:23377 GALT gene GALT Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MIM#230400 Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000213930 ENSG00000213930 HGNC:4135 GBE1 gene GBE1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease IV, MIM# 232500" Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000114480 ENSG00000114480 HGNC:4180 GFM1 gene GFM1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 1, MIM# 609060" Liver failure;HP:0001399 31680380;23430926 False 3 100;0;0 1.25 True ENSG00000168827 ENSG00000168827 HGNC:13780 HADHA gene HADHA Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial trifunctional protein deficiency, MIM# 609015" Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Trifunctional protein deficiency, MIM# 609015" Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000138029 ENSG00000138029 HGNC:4803 HSD3B7 gene HSD3B7 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Bile acid synthesis defect, congenital, 1, MIM# 607765" Liver failure;HP:0001399 12679481;11067870 False 3 100;0;0 1.25 True ENSG00000099377 ENSG00000099377 HGNC:18324 IARS gene IARS Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM# 617093" Liver failure;HP:0001399 27426735;27891590 False 3 100;0;0 1.25 True ENSG00000196305 ENSG00000196305 HGNC:5330 JAG1 gene JAG1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome, MIM# 118450 Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000101384 ENSG00000101384 HGNC:6188 LARS gene LARS Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438 Liver failure;HP:0001399 30349989 False 3 100;0;0 1.25 True ENSG00000133706 ENSG00000133706 HGNC:6512 LIPA gene LIPA Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease, MIM# 278000;Wolman disease, MIM# 278000 Liver failure;HP:0001399 8617513;21963785 False 3 100;0;0 1.25 True ENSG00000107798 ENSG00000107798 HGNC:6617 MARS gene MARS Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung and liver disease, MIM#615486 Liver failure;HP:0001399 24103465;25913036 False 3 100;0;0 1.25 True ENSG00000166986 ENSG00000166986 HGNC:6898 MED12 gene MED12 Expert Review Green;Literature Liver Failure_Paediatric Gastroenterological disorders Other Hardikar syndrome, MIM# 301068 Liver failure;HP:0001399 PMID: 33244166 False 3 100;0;0 1.25 True ENSG00000184634 ENSG00000184634 HGNC:11957 MPI gene MPI Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579 Liver failure;HP:0001399 25902754 False 3 100;0;0 1.25 True ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810" Liver failure;HP:0001399 18695062 False 3 100;0;0 1.25 True ENSG00000115204 ENSG00000115204 HGNC:7224 NBAS gene NBAS Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Infantile liver failure syndrome 2, MIM# 616483" Liver failure;HP:0001399 26073778 False 3 100;0;0 1.25 True ENSG00000151779 ENSG00000151779 HGNC:15625 NOTCH2 gene NOTCH2 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Alagille syndrome 2, MIM# 610205" Liver failure;HP:0001399 False 3 100;0;0 1.25 True ENSG00000134250 ENSG00000134250 HGNC:7882 NPC1 gene NPC1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Niemann-Pick disease, MIM# 257220" Liver failure;HP:0001399 25902754 False 3 100;0;0 1.25 True ENSG00000141458 ENSG00000141458 HGNC:7897 NR1H4 gene NR1H4 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic, 5, MIM# 617049" Liver failure;HP:0001399 26888176;32443034 False 3 100;0;0 1.25 True ENSG00000012504 ENSG00000012504 HGNC:7967 OTC gene OTC Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Ornithine transcarbamylase deficiency, MIM# 311250" Liver failure;HP:0001399 28887792;25902754 False 3 100;0;0 1.25 True ENSG00000036473 ENSG00000036473 HGNC:8512 PHKG2 gene PHKG2 Expert Review;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IXc, MIM# 613027 Liver failure;HP:0001399 8896567;9384616;10905889 False 3 100;0;0 1.25 True ENSG00000156873 ENSG00000156873 HGNC:8931 POLG gene POLG Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700" Liver failure;HP:0001399 20220442 False 3 100;0;0 1.25 True ENSG00000140521 ENSG00000140521 HGNC:9179 PYGL gene PYGL Expert Review Green;Literature Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI, MIM# 232700 Liver failure;HP:0001399 32892177 False 3 100;0;0 1.25 True ENSG00000100504 ENSG00000100504 HGNC:9725 RINT1 gene RINT1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Infantile liver failure syndrome 3, MIM# 618641" Liver failure;HP:0001399 31204009 False 3 100;0;0 1.25 True ENSG00000135249 ENSG00000135249 HGNC:21876 SCYL1 gene SCYL1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 21, MIM#616719 Liver failure;HP:0001399 26581903;29419818;30531813 False 3 100;0;0 1.25 True ENSG00000142186 ENSG00000142186 HGNC:14372 SERAC1 gene SERAC1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739" Liver failure;HP:0001399 29205472 False 3 100;0;0 1.25 True ENSG00000122335 ENSG00000122335 HGNC:21061 SH2D1A gene SH2D1A Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Lymphoproliferative syndrome, X-linked, 1, MIM# 308240" Liver failure;HP:0001399 6306053;9771704 False 3 100;0;0 1.25 True ENSG00000183918 ENSG00000183918 HGNC:10820 SKIV2L gene SKIV2L Expert Review Green;Literature Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, MIM# 614602;Respiratory infections;IUGR;Facial dysmorphic features;Wooly hair;Early-onset intractable diarrhoea;Liver cirrhosis;Platelet abnormalities Liver failure;HP:0001399 22444670;33114497;30397475;29527791;29484573 False 3 100;0;0 1.25 True ENSG00000204351 ENSG00000204351 HGNC:10898 SLC25A13 gene SLC25A13 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Citrullinemia, type II, neonatal-onset, MIM# 605814" Liver failure;HP:0001399 21424115;11343052 False 3 100;0;0 1.25 True ENSG00000004864 ENSG00000004864 HGNC:10983 SLC30A10 gene SLC30A10 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, MIM# 613280 Liver failure;HP:0001399 22341972;22341971;29193034 False 3 100;0;0 1.25 True ENSG00000196660 ENSG00000196660 HGNC:25355 SLC37A4 gene SLC37A4 Expert Review Green;Literature Liver Failure_Paediatric Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital disorder of glycosylation Liver failure;HP:0001399 33964207 False 3 100;0;0 1.25 True ENSG00000137700 ENSG00000137700 HGNC:4061 STN1 gene STN1 Expert Review Green;Literature Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Liver failure;HP:0001399 27432940;32627942 False 3 100;0;0 1.25 True ENSG00000107960 ENSG00000107960 HGNC:26200 TALDO1 gene TALDO1 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency, MIM#606003 Liver failure;HP:0001399 29923087;23315216;26238251;18331807 False 3 100;0;0 1.25 True ENSG00000177156 ENSG00000177156 HGNC:11559 TJP2 gene TJP2 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Cholestasis, progressive familial intrahepatic 4, MIM# 615878" Liver failure;HP:0001399 24614073;25921221;31696999 False 3 100;0;0 1.25 True ENSG00000119139 ENSG00000119139 HGNC:11828 TRMU gene TRMU Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Liver failure, transient infantile, MIM# 613070" Liver failure;HP:0001399 19732863 False 3 100;0;0 1.25 True ENSG00000100416 ENSG00000100416 HGNC:25481 TTC37 gene TTC37 Expert list;Expert Review Green Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Trichohepatoenteric syndrome 1, MIM# 222470" Liver failure;HP:0001399 17318842;20176027 False 3 100;0;0 1.25 True ENSG00000198677 ENSG00000198677 HGNC:23639 TULP3 gene TULP3 Expert Review Green;Literature Liver Failure_Paediatric Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, MIM# 619902 Liver failure;HP:0001399 PMID: 35397207 False 3 100;0;0 1.25 True ENSG00000078246 ENSG00000078246 HGNC:12425