Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2		146
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	146
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	111
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome		119
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome		119
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0002904	HP:0002904	Hyperbilirubinemia	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0002904	HP:0002904	Hyperbilirubinemia	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0002904	HP:0002904	Hyperbilirubinemia	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.	150
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1		144
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	144
HP:0002904	HP:0002904	Hyperbilirubinemia	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0002904	HP:0002904	Hyperbilirubinemia	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0002904	HP:0002904	Hyperbilirubinemia	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0002904	HP:0002904	Hyperbilirubinemia	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0002904	HP:0002904	Hyperbilirubinemia	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0002904	HP:0002904	Hyperbilirubinemia	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0002904	HP:0002904	Hyperbilirubinemia	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0002904	HP:0002904	Hyperbilirubinemia	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0002904	HP:0002904	Hyperbilirubinemia	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0002904	HP:0002904	Hyperbilirubinemia	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0002904	HP:0002904	Hyperbilirubinemia	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0002904	HP:0002904	Hyperbilirubinemia	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0002904	HP:0002904	Hyperbilirubinemia	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	6
HP:0002904	HP:0002904	Hyperbilirubinemia	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0002904	HP:0002904	Hyperbilirubinemia	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002904	HP:0002904	Hyperbilirubinemia	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency		64
HP:0002904	HP:0002904	Hyperbilirubinemia	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0002904	HP:0002904	Hyperbilirubinemia	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002904	HP:0002904	Hyperbilirubinemia	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0002904	HP:0002904	Hyperbilirubinemia	0	GATA1 CL E G H	2623	4170	OMIM:301083			29
HP:0002904	HP:0002904	Hyperbilirubinemia	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0002904	HP:0002904	Hyperbilirubinemia	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0002904	HP:0002904	Hyperbilirubinemia	0	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency		1
HP:0002904	HP:0002904	Hyperbilirubinemia	0	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY		1
HP:0002904	HP:0002904	Hyperbilirubinemia	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	5
HP:0002904	HP:0002904	Hyperbilirubinemia	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0002904	HP:0002904	Hyperbilirubinemia	0	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.	11
HP:0002904	HP:0002904	Hyperbilirubinemia	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0002904	HP:0002904	Hyperbilirubinemia	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0002904	HP:0002904	Hyperbilirubinemia	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002904	HP:0002904	Hyperbilirubinemia	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0002904	HP:0002904	Hyperbilirubinemia	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0002904	HP:0002904	Hyperbilirubinemia	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0002904	HP:0002904	Hyperbilirubinemia	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0002904	HP:0002904	Hyperbilirubinemia	0	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.	3
HP:0002904	HP:0002904	Hyperbilirubinemia	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0002904	HP:0002904	Hyperbilirubinemia	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent	1
HP:0002904	HP:0002904	Hyperbilirubinemia	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.	42
HP:0002904	HP:0002904	Hyperbilirubinemia	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0002904	HP:0002904	Hyperbilirubinemia	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0002904	HP:0002904	Hyperbilirubinemia	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease		125
HP:0002904	HP:0002904	Hyperbilirubinemia	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0002904	HP:0002904	Hyperbilirubinemia	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002904	HP:0002904	Hyperbilirubinemia	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0002904	HP:0002904	Hyperbilirubinemia	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0002904	HP:0002904	Hyperbilirubinemia	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0002904	HP:0002904	Hyperbilirubinemia	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002904	HP:0002904	Hyperbilirubinemia	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0002904	HP:0002904	Hyperbilirubinemia	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	14
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0002904	HP:0002904	Hyperbilirubinemia	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0002904	HP:0002904	Hyperbilirubinemia	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent	21
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency		51
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0002904	HP:0002904	Hyperbilirubinemia	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0002904	HP:0002904	Hyperbilirubinemia	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0002904	HP:0002904	Hyperbilirubinemia	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease		63
HP:0002904	HP:0002904	Hyperbilirubinemia	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts		63
HP:0002904	HP:0002904	Hyperbilirubinemia	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0002904	HP:0002904	Hyperbilirubinemia	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0002904	HP:0002904	Hyperbilirubinemia	0	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type		13
HP:0002904	HP:0002904	Hyperbilirubinemia	0	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.	13
HP:0002904	HP:0002904	Hyperbilirubinemia	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	13
HP:0002904	HP:0002904	Hyperbilirubinemia	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	8
HP:0002904	HP:0002904	Hyperbilirubinemia	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	16
HP:0002904	HP:0002904	Hyperbilirubinemia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease		137
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4	.	109
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		52
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040282 - Frequent	52
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		60
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040282 - Frequent	60
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2		228
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	228
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	156
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2		156
HP:0002904	HP:0002904	Hyperbilirubinemia	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002904	HP:0002904	Hyperbilirubinemia	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0002904	HP:0002904	Hyperbilirubinemia	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0002904	HP:0002904	Hyperbilirubinemia	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002904	HP:0002904	Hyperbilirubinemia	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0002904	HP:0002904	Hyperbilirubinemia	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0002904	HP:0002904	Hyperbilirubinemia	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0002904	HP:0002904	Hyperbilirubinemia	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0002904	HP:0002904	Hyperbilirubinemia	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0002904	HP:0002904	Hyperbilirubinemia	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002904	HP:0002904	Hyperbilirubinemia	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0002904	HP:0002904	Hyperbilirubinemia	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1		73
HP:0002904	HP:0002904	Hyperbilirubinemia	0	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2		73
HP:0002904	HP:0002904	Hyperbilirubinemia	0	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0002904	HP:0002904	Hyperbilirubinemia	0	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II		73
HP:0002904	HP:0002904	Hyperbilirubinemia	0	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal		73
HP:0002904	HP:0002904	Hyperbilirubinemia	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0002904	HP:0002904	Hyperbilirubinemia	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0002904	HP:0002904	Hyperbilirubinemia	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0002904	HP:0002904	Hyperbilirubinemia	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0002904	HP:0002904	Hyperbilirubinemia	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002904	HP:0002904	Hyperbilirubinemia	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0002904	HP:0002904	Hyperbilirubinemia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.	146
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome	.	119
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040281 - Very frequent	119
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0002904	HP:0003573	Increased total bilirubin	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0002904	HP:0003573	Increased total bilirubin	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	121
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	11
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	6
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	29
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency	.	1
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	5
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional	580
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040282 - Frequent	91
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	46
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	4
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	130
HP:0002904	HP:0003573	Increased total bilirubin	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	3
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0002904	HP:0003573	Increased total bilirubin	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0002904	HP:0003573	Increased total bilirubin	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	125
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002904	HP:0003573	Increased total bilirubin	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0002904	HP:0003573	Increased total bilirubin	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0002904	HP:0003573	Increased total bilirubin	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	36
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent	563
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040281 - Very frequent	51
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.	51
HP:0002904	HP:0003573	Increased total bilirubin	1	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002904	HP:0003573	Increased total bilirubin	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0002904	HP:0003573	Increased total bilirubin	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	63
HP:0002904	HP:0003573	Increased total bilirubin	1	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.	63
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type	.	13
HP:0002904	HP:0003573	Increased total bilirubin	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	137
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0002904	HP:0003573	Increased total bilirubin	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	109
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	59
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic	.	52
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040281 - Very frequent	52
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic	.	60
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040281 - Very frequent	60
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2		228
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	228
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	156
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	155
HP:0002904	HP:0003573	Increased total bilirubin	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	71
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	92
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent	73
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent	73
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2	HP:0040281 - Very frequent	73
HP:0002904	HP:0003265	Neonatal hyperbilirubinemia	1	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2	HP:0040281 - Very frequent	73
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II	.	73
HP:0002904	HP:0008176	Neonatal unconjugated hyperbilirubinemia	1	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal	.	73
HP:0002904	HP:0008282	Unconjugated hyperbilirubinemia	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	41
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0002904	HP:0002908	Conjugated hyperbilirubinemia	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63