TMEM138, transmembrane protein 138, 51524

N. diseases: 52; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907133
rs387907133
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C3280906
Disease:
JOUBERT SYNDROME 16 		T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs387907132
rs387907132
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C3280906
Disease:
JOUBERT SYNDROME 16 		0.800 GeneticVariation UNIPROT Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
dbSNP: rs387907133
rs387907133
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C3280906
Disease:
JOUBERT SYNDROME 16 		0.800 GeneticVariation UNIPROT Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
dbSNP: rs387907134
rs387907134
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C3280906
Disease:
JOUBERT SYNDROME 16 		0.800 GeneticVariation UNIPROT Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
dbSNP: rs387907132
rs387907132
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C3280906
Disease:
JOUBERT SYNDROME 16 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387907134
rs387907134
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C3280906
Disease:
JOUBERT SYNDROME 16 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907135
rs387907135
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C3280906
Disease:
JOUBERT SYNDROME 16 		0.700 GeneticVariation UNIPROT Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 22282472 2012
dbSNP: rs886039804
rs886039804
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886039804
rs886039804
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886039804
rs886039804
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C0022680
Disease:
Polycystic Kidney Diseases 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886039804
rs886039804
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C0014067
Disease:
Occipital Encephalocele 		G 0.700 GeneticVariation CLINVAR