B9D1, B9 domain containing 1, 27077

N. diseases: 107; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886038205
rs886038205
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C4310706
Disease:
JOUBERT SYNDROME 27 		0.800 GeneticVariation UNIPROT Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014
dbSNP: rs771170000
rs771170000
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C4310706
Disease:
JOUBERT SYNDROME 27 		0.800 GeneticVariation UNIPROT
dbSNP: rs771170000
rs771170000
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C4310706
Disease:
JOUBERT SYNDROME 27 		C 0.800 CausalMutation CLINVAR
dbSNP: rs886038205
rs886038205
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C4310706
Disease:
JOUBERT SYNDROME 27 		T 0.800 CausalMutation CLINVAR
dbSNP: rs72838804
rs72838804
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0036341
Disease:
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of paliperidone efficacy. 27846195 2017
dbSNP: rs369488112
rs369488112
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs373478202
rs373478202
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs771170000
rs771170000
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs143149764
rs143149764
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		G 0.700 CausalMutation CLINVAR B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 21493627 2011
dbSNP: rs143149764
rs143149764
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 CausalMutation CLINVAR B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 21493627 2011
dbSNP: rs143149764
rs143149764
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C3280155
Disease:
MECKEL SYNDROME, TYPE 9 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs143149764
rs143149764
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C3280155
Disease:
MECKEL SYNDROME, TYPE 9 		G 0.700 CausalMutation CLINVAR
dbSNP: rs886038206
rs886038206
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C4310706
Disease:
JOUBERT SYNDROME 27 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886039811
rs886039811
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886039811
rs886039811
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0020255
Disease:
Hydrocephalus 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886039811
rs886039811
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0282160
Disease:
Aplasia Cutis Congenita 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886039811
rs886039811
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0175754
Disease:
Agenesis of corpus callosum 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886039811
rs886039811
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0152427
Disease:
Polydactyly 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886039811
rs886039811
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
CUI: C0014067
Disease:
Occipital Encephalocele 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs3866958
rs3866958
Entrez Id: 5598;27077
Gene Symbol: MAPK7;B9D1
MAPK7;B9D1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Our data indicated that the functional polymorphism rs3866958G>T in ERK5 was associated with an increased lung cancer risk in smokers by virtue of the positive interaction with smoking on promoting the ERK5 expression, which might be a valuable indicator for predicting lung cancer risk in smokers. 23804708 2013
dbSNP: rs3866958
rs3866958
Entrez Id: 5598;27077
Gene Symbol: MAPK7;B9D1
MAPK7;B9D1
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE Our data indicated that the functional polymorphism rs3866958G>T in ERK5 was associated with an increased lung cancer risk in smokers by virtue of the positive interaction with smoking on promoting the ERK5 expression, which might be a valuable indicator for predicting lung cancer risk in smokers. 23804708 2013
dbSNP: rs3866958
rs3866958
Entrez Id: 5598;27077
Gene Symbol: MAPK7;B9D1
MAPK7;B9D1
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE Our data indicated that the functional polymorphism rs3866958G>T in ERK5 was associated with an increased lung cancer risk in smokers by virtue of the positive interaction with smoking on promoting the ERK5 expression, which might be a valuable indicator for predicting lung cancer risk in smokers. 23804708 2013