DisGeNET - a database of gene-disease associations

P3H2, prolyl 3-hydroxylase 2, 55214

N. diseases: 17; N. variants: 5

Disease: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION ×

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Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3280346
Disease:	MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

0.700

CausalMutation

disease

CLINVAR

CUI:	C3280346
Disease:	MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

0.700

Biomarker

disease

CTD_human

CUI:	C3280346
Disease:	MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

0.700

GeneticVariation

disease

UNIPROT

High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.

21885030

2011

CUI:	C3280346
Disease:	MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

0.700

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C3280346
Disease:	MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

0.700

Biomarker

disease

GENOMICS_ENGLAND

High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.

21885030

2011

CUI:	C3280346
Disease:	MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION

0.700

Biomarker

disease

GENOMICS_ENGLAND