DisGeNET - a database of gene-disease associations

rs769256568, PHGDH

N. diseases: 2

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

NEU-LAXOVA SYNDROME 1

CUI:	C4551478
Disease:	NEU-LAXOVA SYNDROME 1

7

0.925

0.320

1

119740470

stop gained

C/T

snv

1.7E-05

1.4E-05

0.700

Phosphoglycerate Dehydrogenase Deficiency

CUI:	C1866174
Disease:	Phosphoglycerate Dehydrogenase Deficiency

9

0.925

0.320

1

119740470

stop gained

C/T

snv

1.7E-05

1.4E-05

0.700