TMEM231, transmembrane protein 231, 79583

N. diseases: 132; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200799769
rs200799769
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3554235
Disease:
JOUBERT SYNDROME 20
T 0.800 CausalMutation CLINVAR TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. 27449316 2016
dbSNP: rs200799769
rs200799769
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3554235
Disease:
JOUBERT SYNDROME 20
0.800 GeneticVariation UNIPROT Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015
dbSNP: rs397514754
rs397514754
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3809352
Disease:
MECKEL SYNDROME, TYPE 11
0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Meckel-Gruber syndrome. 23349226 2013
dbSNP: rs200799769
rs200799769
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3554235
Disease:
JOUBERT SYNDROME 20
T 0.800 CausalMutation CLINVAR Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
dbSNP: rs200799769
rs200799769
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3554235
Disease:
JOUBERT SYNDROME 20
0.800 GeneticVariation UNIPROT Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
dbSNP: rs397514754
rs397514754
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3809352
Disease:
MECKEL SYNDROME, TYPE 11
G 0.800 CausalMutation CLINVAR
dbSNP: rs151269874
rs151269874
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0948089
Disease:
Acute Coronary Syndrome
T 0.700 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643 2017
dbSNP: rs151269874
rs151269874
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0010068
Disease:
Coronary heart disease
T 0.700 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643 2017
dbSNP: rs200799769
rs200799769
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3809352
Disease:
MECKEL SYNDROME, TYPE 11
T 0.700 CausalMutation CLINVAR TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. 27449316 2016
dbSNP: rs760426025
rs760426025
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3809352
Disease:
MECKEL SYNDROME, TYPE 11
C 0.700 CausalMutation CLINVAR TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. 25869670 2015
dbSNP: rs760426025
rs760426025
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3554235
Disease:
JOUBERT SYNDROME 20
C 0.700 CausalMutation CLINVAR TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. 25869670 2015
dbSNP: rs200799769
rs200799769
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3809352
Disease:
MECKEL SYNDROME, TYPE 11
T 0.700 CausalMutation CLINVAR Mutations in TMEM231 cause Joubert syndrome in French Canadians. 23012439 2012
dbSNP: rs1415483600
rs1415483600
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3809352
Disease:
MECKEL SYNDROME, TYPE 11
T 0.700 CausalMutation CLINVAR
dbSNP: rs200063331
rs200063331
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3554235
Disease:
JOUBERT SYNDROME 20
T 0.700 CausalMutation CLINVAR
dbSNP: rs200063331
rs200063331
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3809352
Disease:
MECKEL SYNDROME, TYPE 11
T 0.700 CausalMutation CLINVAR
dbSNP: rs397514609
rs397514609
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3554235
Disease:
JOUBERT SYNDROME 20
T 0.700 CausalMutation CLINVAR
dbSNP: rs397514753
rs397514753
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0265215
Disease:
Meckel-Gruber syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs397514753
rs397514753
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C3809352
Disease:
MECKEL SYNDROME, TYPE 11
T 0.700 CausalMutation CLINVAR
dbSNP: rs753709447
rs753709447
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0431399
Disease:
Familial aplasia of the vermis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs886039807
rs886039807
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0432072
Disease:
Dysmorphic features
G 0.700 CausalMutation CLINVAR
dbSNP: rs886039807
rs886039807
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0431399
Disease:
Familial aplasia of the vermis
G 0.700 CausalMutation CLINVAR
dbSNP: rs886039807
rs886039807
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0022595
Disease:
Keratosis Follicularis
G 0.700 CausalMutation CLINVAR
dbSNP: rs886039807
rs886039807
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0028738
Disease:
Nystagmus
G 0.700 CausalMutation CLINVAR
dbSNP: rs886039807
rs886039807
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0152427
Disease:
Polydactyly
G 0.700 CausalMutation CLINVAR
dbSNP: rs886039807
rs886039807
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0796074
Disease:
MOHR-TRANEBJAERG SYNDROME
G 0.700 CausalMutation CLINVAR