Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormality of vitamin metabolism (HP:0100508)

..Starting node
..Abnormality of vitamin K metabolism (HP:0100831)

Term ID:

100831

Name:

Abnormality of vitamin K metabolism

Synonym:

Abnormality of vitamin K metabolism

Definition:

Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.

Comments:

Reference:

HP:0100831

Genes and Diseases:

Child Nodes:

........

Vitamin K deficiency (HP:0011892)

........

Increased PIVKA-II (HP:0045063)

Sister Nodes:

Abnormal circulating serine family amino acid concentration (HP:0010894)

Abnormality of vitamin A metabolism (HP:0008372)

Abnormality of vitamin B metabolism (HP:0004340)

Abnormality of vitamin C metabolism (HP:0100509)

Abnormality of vitamin D metabolism (HP:0100511)

Abnormality of vitamin E metabolism (HP:0100514)

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:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0100831	HP:0100831	Abnormality of vitamin K metabolism	0	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial		149
HP:0100831	HP:0045063	Increased PIVKA-II	1	CL E G H
HP:0100831	HP:0011892	Low levels of vitamin K	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0100831	HP:0011892	Low levels of vitamin K	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0100831	HP:0011892	Low levels of vitamin K	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0100831	HP:0011892	Low levels of vitamin K	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0100831	HP:0011892	Low levels of vitamin K	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0100831	HP:0011892	Low levels of vitamin K	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0100831	HP:0011892	Low levels of vitamin K	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0100831	HP:0011892	Low levels of vitamin K	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0100831	HP:0011892	Low levels of vitamin K	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0100831	HP:0011892	Low levels of vitamin K	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0100831	HP:0011892	Low levels of vitamin K	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0100831	HP:0011892	Low levels of vitamin K	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0100831	HP:0011892	Low levels of vitamin K	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0100831	HP:0011892	Low levels of vitamin K	1	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.	149

Genes (14) :AMACR DNAJC21 DZIP1L EFL1 GPR35 HLA-DQA1 HLA-DQB1 MST1 PKHD1 SBDS SEMA4D SRP54 TCF4 TJP2

Diseases (6) :ORPHA:79095 ORPHA:811 ORPHA:731 ORPHA:171 OMIM:212750 OMIM:607748

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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