DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Allan-Herndon-Dudley syndrome (AHDS) ×

Results per page

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

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	6567
Gene Symbol:	SLC16A2

SLC16A2

solute carrier family 16 member 2

0.592

0.577

0.99

CUI:	C0795889
Disease:	Allan-Herndon-Dudley syndrome (AHDS)

Allan-Herndon-Dudley syndrome (AHDS)

disease

1.000

definitive

1.000

0

2004

2020