DisGeNET - a database of gene-disease associations

Familial aplasia of the vermis, C0431399

Variant: rs386834202 ×

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:

rs386834202

TMEM67

0.700

CausalMutation

CLINVAR

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

28431631

2017

dbSNP:

rs386834202

TMEM67

0.700

CausalMutation

CLINVAR

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

26729329

2016

dbSNP:

rs386834202

TMEM67

0.700

CausalMutation

CLINVAR

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

26092869

2015

dbSNP:

rs386834202

TMEM67

0.700

CausalMutation

CLINVAR

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

23559409

2013

dbSNP:

rs386834202

TMEM67

0.700

CausalMutation

CLINVAR

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs386834202

TMEM67

0.700

CausalMutation

CLINVAR

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

19058225

2009