DisGeNET - a database of gene-disease associations

rs199469631, KLHL3

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.

Pseudohypoaldosteronism, Type II

CUI:	C1449844
Disease:	Pseudohypoaldosteronism, Type II

42

0.925

0.120

5

137637320

missense variant

C/T

snv

0.700

PSEUDOHYPOALDOSTERONISM, TYPE IID

CUI:	C3469605
Disease:	PSEUDOHYPOALDOSTERONISM, TYPE IID

29

0.925

0.120

5

137637320

missense variant

C/T

snv

0.700