DisGeNET - a database of gene-disease associations

Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations, C1853507

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

Variant

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1566225872

rs1566225872

CLN5 ; FBXL3

1

13

77007360

missense variant

A/G

snv

0.700

dbSNP:

rs374431043

rs374431043

CLN5 ; FBXL3

1

13

77018626

stop gained

G/A;C;T

snv

4.2E-06

0.700

dbSNP:

rs764008859

rs764008859

CLN5 ; FBXL3

1

13

77007548

frameshift variant

A/-

delins

7.0E-06

0.700