Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

..Starting node
..Elevated circulating alanine aminotransferase concentration (HP:0031964)

Term ID:

31964

Name:

Elevated circulating alanine aminotransferase concentration

Synonym:

Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum ALT; Elevated serum glutamic-pyruvic transaminase

Definition:

An abnormally high concentration in the circulation of alanine aminotransferase (ALT).

Comments:

Reference:

HP:0031964

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA		351
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic		53
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional	71
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040284 - Very rare	130
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0031964	HP:0031964	Elevated circulating alanine aminotransferase concentration	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8

Genes (54) :ADK ALDOA APOB APOE ATP6AP1 ATP7B BAAT BCAT2 CPT2 CYP7B1 DEF6 DOCK2 FADD GAA GALT HMOX1 KIF12 LIPA LYRM4 MARS1 MPV17 MRPL3 MRPL44 MRPS2 MYO5B NFS1 NR1H4 NSMCE2 OCRL OTC PCK1 PGM1 PKHD1 PRKCD SCO1 SEMA7A SLC22A5 SLC25A13 SLC2A2 SLC37A4 SLC51B SMPD1 STAT2 SUCLG1 TKFC TMEM165 TRMU TTC26 USP53 VPS13A VPS33B VPS50 WRN XK

Diseases (55) :OMIM:614300 OMIM:611881 OMIM:615558 OMIM:269600 OMIM:300972 OMIM:277900 OMIM:619232 OMIM:618850 OMIM:608836 OMIM:613812 ORPHA:79302 OMIM:619573 OMIM:616433 OMIM:613759 ORPHA:308552 OMIM:230400 OMIM:614034 OMIM:619662 OMIM:278000 OMIM:615595 OMIM:615486 OMIM:256810 OMIM:614582 OMIM:615395 OMIM:617950 OMIM:619868 OMIM:619386 OMIM:617049 OMIM:617253 OMIM:300555 OMIM:311250 OMIM:261680 OMIM:614921 ORPHA:53035 OMIM:615559 OMIM:619048 OMIM:619874 OMIM:212140 OMIM:603471 ORPHA:2088 OMIM:619525 OMIM:619481 OMIM:257200 OMIM:616636 OMIM:245400 OMIM:618805 OMIM:614727 OMIM:613070 OMIM:619534 OMIM:619658 ORPHA:2388 OMIM:620010 OMIM:619685 OMIM:277700 OMIM:300842

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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