DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Microcephaly (physical finding) ×

Variant: rs76216585 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs76216585

POC1B

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

CausalMutation

CLINVAR

Novel recessive cone-rod dystrophy caused by POC1B mutation.

24945461

2014

dbSNP:

rs76216585

POC1B

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

CausalMutation

CLINVAR

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

25018096

2014

dbSNP:

rs76216585

POC1B

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

CausalMutation

CLINVAR

Mutation of POC1B in a severe syndromic retinal ciliopathy.

25044745

2014