DisGeNET - a database of gene-disease associations

Familial aplasia of the vermis, C0431399

Variant: rs201108965 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs201108965

TMEM216

0.700

CausalMutation

CLINVAR

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

26673778

2016

dbSNP:

rs201108965

TMEM216

0.700

CausalMutation

CLINVAR

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

dbSNP:

rs201108965

TMEM216

0.700

CausalMutation

CLINVAR

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

22282472

2012

dbSNP:

rs201108965

TMEM216

0.700

CausalMutation

CLINVAR

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

20036350

2010

dbSNP:

rs201108965

TMEM216

0.700

CausalMutation

CLINVAR

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

20512146

2010