DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Distal shortening of limbs ×

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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

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1379395211

rs1379395211

RAC3

17

82032779

missense variant

C/G;T

snv

CUI:	C1840307
Disease:	Distal shortening of limbs

Distal shortening of limbs

0.700

dbSNP:

rs1555610590

rs1555610590

NXN

17

822445

stop gained

G/A

snv

CUI:	C1840307
Disease:	Distal shortening of limbs

Distal shortening of limbs

0.700

dbSNP:

rs1556022962

rs1556022962

GPC4

X

133304782

missense variant

C/T

snv

CUI:	C1840307
Disease:	Distal shortening of limbs

Distal shortening of limbs

0.700