Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:605479 | Cholestasis, benign recurrent intrahepatic, 2 | . | | | 146 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:600803 | Gallbladder disease 1 | . | | | 111 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69663 | Low phospholipid-associated cholelithiasis | HP:0040282 - Frequent | | | 111 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:611465 | GALLBLADDER DISEASE 4; GBD4 | | | | 76 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 178 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300752 | Protoporphyria, erythropoietic, X-linked | HP:0040283 - Occasional | | | 72 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | . | | | 50 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | . | | | 150 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | BLVRA CL E G H | 644 | 1062 | OMIM:614156 | Hyperbiliverdinemia | . | | | 2 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | HP:0040284 - Very rare | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | CYP7A1 CL E G H | 1581 | 2651 | ORPHA:209902 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | | | | 11 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 186 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 6 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | FECH CL E G H | 2235 | 3647 | ORPHA:79278 | Autosomal erythropoietic protoporphyria | HP:0040283 - Occasional | | | 145 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | FECH CL E G H | 2235 | 3647 | OMIM:177000 | Protoporphyria, erythropoietic, 1 | . | | | 145 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GCGR CL E G H | 2642 | 4192 | ORPHA:438274 | GCGR-related hyperglucagonemia | HP:0040282 - Frequent | | | 1 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 8 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GPI CL E G H | 2821 | 4458 | OMIM:613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency | . | | | 12 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 5 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040283 - Occasional | | | 580 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | | | | 580 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:235700 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | . | | | 11 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 36 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | HP:0040283 - Occasional | | | 36 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | . | | | 51 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 67 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 61 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 57 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | . | | | 60 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 504 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040284 - Very rare | | | 164 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 228 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 156 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | . | | | 28 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001081 | HP:0001081 | Cholelithiasis | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0001081 | HP:0011980 | Cholesterol gallstones | 1 | ABCB4 CL E G H | 5244 | 45 | OMIM:600803 | Gallbladder disease 1 | . | | | 111 | | |
HP:0001081 | HP:0011980 | Cholesterol gallstones | 1 | CYP7A1 CL E G H | 1581 | 2651 | ORPHA:209902 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | HP:0040281 - Very frequent | | | 11 | | |
HP:0001081 | HP:0011981 | Pigment gallstones | 1 | GPI CL E G H | 2821 | 4458 | OMIM:613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency | . | | | 12 | | |
HP:0001081 | HP:0011981 | Pigment gallstones | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040282 - Frequent | | | 580 | | |
HP:0001081 | HP:0011983 | Brown pigment gallstones | 2 | CL E G H | | | | | | | | | | |
HP:0001081 | HP:0011982 | Black pigment gallstones | 2 | CL E G H | | | | | | | | | | |