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:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2		146
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy		146
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy		111
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome		119
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome		119
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia		68
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2		62
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent		227
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4		44
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1		144
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy		144
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia		2
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis		6
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency		64
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency		301
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	GATA1 CL E G H	2623	4170	OMIM:301083			29
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency		1
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY		1
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis		5
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type		100
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency		11
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1		26
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2		29
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2		3
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III		1
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease		125
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy		14
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency		21
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency		51
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair		27
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease		63
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts		63
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome		28
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type		13
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis		13
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome		13
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome		8
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome		16
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease		137
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4		109
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		52
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome		52
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		60
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome		60
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2		228
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis		228
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis		156
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2		156
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3		8
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1		73
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2		73
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II		73
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal		73
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0010995	HP:0010995	Abnormal circulating dicarboxylic acid concentration	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0010995	HP:0020149	Elevated circulating succinate	1	CL E G H
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2		146
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy		146
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy		111
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome		119
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome		119
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0010995	HP:0002912	Methylmalonic acidemia	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0010995	HP:0002912	Methylmalonic acidemia	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040281 - Very frequent	68
HP:0010995	HP:0040145	Dicarboxylic acidemia	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040281 - Very frequent	68
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2		62
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0010995	HP:0034365	Elevated circulating alpha-aminoadipic semialdehyde concentration	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent		227
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary		73
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4		44
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1		144
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy		144
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0010995	HP:0034383	Elevated circulating biliverdin concentration	1	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia		2
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0010995	HP:0002912	Methylmalonic acidemia	1	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0010995	HP:0003530	Elevated circulating glutaric acid concentration	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040281 - Very frequent	25
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis		6
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0010995	HP:0003530	Elevated circulating glutaric acid concentration	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0010995	HP:0003530	Elevated circulating glutaric acid concentration	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0010995	HP:0003530	Elevated circulating glutaric acid concentration	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency		64
HP:0010995	HP:0033146	Elevated circulating methylsuccinic acid concentration	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency		301
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	GATA1 CL E G H	2623	4170	OMIM:301083			29
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0010995	HP:0003530	Elevated circulating glutaric acid concentration	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency		1
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY		1
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis		5
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0010995	HP:0002912	Methylmalonic acidemia	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.	100
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency		11
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1		26
HP:0010995	HP:0040145	Dicarboxylic acidemia	1	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2		29
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2		3
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III		1
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0010995	HP:0040145	Dicarboxylic acidemia	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0010995	HP:0002912	Methylmalonic acidemia	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease		125
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010995	HP:0002912	Methylmalonic acidemia	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0010995	HP:0002912	Methylmalonic acidemia	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0010995	HP:0002912	Methylmalonic acidemia	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent	101
HP:0010995	HP:0002912	Methylmalonic acidemia	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0010995	HP:0002912	Methylmalonic acidemia	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0002912	Methylmalonic acidemia	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy		14
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency		21
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency		51
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair		27
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0002912	Methylmalonic acidemia	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease		63
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts		63
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome		28
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type		13
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis		13
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome		13
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome		8
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome		16
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease		137
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4		109
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		52
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome		52
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		60
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome		60
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2		228
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis		228
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis		156
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2		156
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010995	HP:0002912	Methylmalonic acidemia	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0010995	HP:0002912	Methylmalonic acidemia	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040280 - Obligate	60
HP:0010995	HP:0003530	Elevated circulating glutaric acid concentration	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional	8
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1		73
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2		73
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II		73
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal		73
HP:0010995	HP:0033325	Elevated circulating sebacic acid concentration	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0010995	HP:0033177	Elevated circulating suberic acid concentration	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0010995	HP:0033504	Elevated circulating fumarate concentration	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0010995	HP:0033479	Abnormal circulating bilirubin concentration	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0010995	HP:0033480	Hypobilirubinemia	2	CL E G H
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2		146
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	146
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	111
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome		119
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome		119
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0010995	HP:0002904	Hyperbilirubinemia	2	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0010995	HP:0002904	Hyperbilirubinemia	2	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0010995	HP:0002904	Hyperbilirubinemia	2	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.	150
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1		144
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	144
HP:0010995	HP:0002904	Hyperbilirubinemia	2	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0010995	HP:0002904	Hyperbilirubinemia	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0010995	HP:0002904	Hyperbilirubinemia	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0010995	HP:0002904	Hyperbilirubinemia	2	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0010995	HP:0002904	Hyperbilirubinemia	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0010995	HP:0002904	Hyperbilirubinemia	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0010995	HP:0002904	Hyperbilirubinemia	2	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0010995	HP:0002904	Hyperbilirubinemia	2	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0010995	HP:0002904	Hyperbilirubinemia	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0010995	HP:0002904	Hyperbilirubinemia	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0010995	HP:0002904	Hyperbilirubinemia	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0010995	HP:0002904	Hyperbilirubinemia	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0010995	HP:0002904	Hyperbilirubinemia	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	6
HP:0010995	HP:0002904	Hyperbilirubinemia	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0010995	HP:0002904	Hyperbilirubinemia	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0010995	HP:0002904	Hyperbilirubinemia	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency		64
HP:0010995	HP:0002904	Hyperbilirubinemia	2	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0010995	HP:0002904	Hyperbilirubinemia	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010995	HP:0002904	Hyperbilirubinemia	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0010995	HP:0002904	Hyperbilirubinemia	2	GATA1 CL E G H	2623	4170	OMIM:301083			29
HP:0010995	HP:0002904	Hyperbilirubinemia	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0010995	HP:0002904	Hyperbilirubinemia	2	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0010995	HP:0002904	Hyperbilirubinemia	2	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency		1
HP:0010995	HP:0002904	Hyperbilirubinemia	2	GSR CL E G H	2936	4623	OMIM:618660	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY		1
HP:0010995	HP:0002904	Hyperbilirubinemia	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	5
HP:0010995	HP:0002904	Hyperbilirubinemia	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0010995	HP:0002904	Hyperbilirubinemia	2	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.	11
HP:0010995	HP:0002904	Hyperbilirubinemia	2	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0010995	HP:0040146	D-2-hydroxyglutaric acidemia	2	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2		29
HP:0010995	HP:0002904	Hyperbilirubinemia	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0010995	HP:0002904	Hyperbilirubinemia	2	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0002904	Hyperbilirubinemia	2	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis		46
HP:0010995	HP:0002904	Hyperbilirubinemia	2	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis		4
HP:0010995	HP:0002904	Hyperbilirubinemia	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0010995	HP:0002904	Hyperbilirubinemia	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0010995	HP:0002904	Hyperbilirubinemia	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.	3
HP:0010995	HP:0002904	Hyperbilirubinemia	2	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0010995	HP:0002904	Hyperbilirubinemia	2	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent	1
HP:0010995	HP:0002904	Hyperbilirubinemia	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.	42
HP:0010995	HP:0040147	L-2-hydroxyglutaric acidemia	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0010995	HP:0002904	Hyperbilirubinemia	2	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0010995	HP:0002904	Hyperbilirubinemia	2	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0010995	HP:0002904	Hyperbilirubinemia	2	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease		125
HP:0010995	HP:0002904	Hyperbilirubinemia	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0010995	HP:0002904	Hyperbilirubinemia	2	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0002904	Hyperbilirubinemia	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0010995	HP:0002904	Hyperbilirubinemia	2	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0010995	HP:0002904	Hyperbilirubinemia	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0010995	HP:0002904	Hyperbilirubinemia	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0010995	HP:0002904	Hyperbilirubinemia	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0010995	HP:0002904	Hyperbilirubinemia	2	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	14
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0010995	HP:0002904	Hyperbilirubinemia	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0010995	HP:0002904	Hyperbilirubinemia	2	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent	21
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency		51
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0010995	HP:0002904	Hyperbilirubinemia	2	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0010995	HP:0002904	Hyperbilirubinemia	2	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0010995	HP:0002904	Hyperbilirubinemia	2	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease		63
HP:0010995	HP:0002904	Hyperbilirubinemia	2	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts		63
HP:0010995	HP:0002904	Hyperbilirubinemia	2	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0010995	HP:0002904	Hyperbilirubinemia	2	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0010995	HP:0002904	Hyperbilirubinemia	2	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type		13
HP:0010995	HP:0002904	Hyperbilirubinemia	2	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.	13
HP:0010995	HP:0002904	Hyperbilirubinemia	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	13
HP:0010995	HP:0002904	Hyperbilirubinemia	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	8
HP:0010995	HP:0002904	Hyperbilirubinemia	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	16
HP:0010995	HP:0002904	Hyperbilirubinemia	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease		137
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4	.	109
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		52
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040282 - Frequent	52
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic		60
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040282 - Frequent	60
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2		228
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	228
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	156
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2		156
HP:0010995	HP:0002904	Hyperbilirubinemia	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010995	HP:0002904	Hyperbilirubinemia	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0010995	HP:0002904	Hyperbilirubinemia	2	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0010995	HP:0002904	Hyperbilirubinemia	2	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0010995	HP:0002904	Hyperbilirubinemia	2	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis		71
HP:0010995	HP:0002904	Hyperbilirubinemia	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0010995	HP:0002904	Hyperbilirubinemia	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0010995	HP:0002904	Hyperbilirubinemia	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0010995	HP:0002904	Hyperbilirubinemia	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0010995	HP:0002904	Hyperbilirubinemia	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010995	HP:0002904	Hyperbilirubinemia	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0010995	HP:0002904	Hyperbilirubinemia	2	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1		73
HP:0010995	HP:0002904	Hyperbilirubinemia	2	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2		73
HP:0010995	HP:0002904	Hyperbilirubinemia	2	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0010995	HP:0002904	Hyperbilirubinemia	2	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II		73
HP:0010995	HP:0002904	Hyperbilirubinemia	2	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal		73
HP:0010995	HP:0002904	Hyperbilirubinemia	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0010995	HP:0002904	Hyperbilirubinemia	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0010995	HP:0002904	Hyperbilirubinemia	2	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0010995	HP:0002904	Hyperbilirubinemia	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0010995	HP:0002904	Hyperbilirubinemia	2	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0010995	HP:0002904	Hyperbilirubinemia	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0010995	HP:0002904	Hyperbilirubinemia	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.	146
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome	.	119
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040281 - Very frequent	119
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.	144
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0010995	HP:0003573	Increased total bilirubin	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0010995	HP:0003573	Increased total bilirubin	3	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	121
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	11
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	6
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	29
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	GPX1 CL E G H	2876	4553	OMIM:614164	Glutathione peroxidase deficiency	.	1
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	5
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional	580
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	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:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	46
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	4
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	130
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0010995	HP:0003573	Increased total bilirubin	3	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	3
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0010995	HP:0003573	Increased total bilirubin	3	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0010995	HP:0003573	Increased total bilirubin	3	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	125
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0010995	HP:0003573	Increased total bilirubin	3	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0010995	HP:0003573	Increased total bilirubin	3	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0010995	HP:0003573	Increased total bilirubin	3	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	36
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent	563
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040281 - Very frequent	51
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.	51
HP:0010995	HP:0003573	Increased total bilirubin	3	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0010995	HP:0003573	Increased total bilirubin	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0010995	HP:0003573	Increased total bilirubin	3	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	63
HP:0010995	HP:0003573	Increased total bilirubin	3	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.	63
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type	.	13
HP:0010995	HP:0003573	Increased total bilirubin	3	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	137
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0010995	HP:0003573	Increased total bilirubin	3	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	109
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	59
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic	.	52
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040281 - Very frequent	52
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic	.	60
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040281 - Very frequent	60
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	SPTA1 CL E G H	6708	11272	OMIM:130600	Elliptocytosis 2		228
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	228
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional	156
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	155
HP:0010995	HP:0003573	Increased total bilirubin	3	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent	71
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	92
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent	73
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent	73
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2	HP:0040281 - Very frequent	73
HP:0010995	HP:0003265	Neonatal hyperbilirubinemia	3	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2	HP:0040281 - Very frequent	73
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II	.	73
HP:0010995	HP:0008176	Neonatal unconjugated hyperbilirubinemia	3	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal	.	73
HP:0010995	HP:0008282	Unconjugated hyperbilirubinemia	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent	41
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0010995	HP:0002908	Conjugated hyperbilirubinemia	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63