Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039230
rs886039230
MAP3K7
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.810 GeneticVariation UNIPROT Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733

2016
dbSNP: rs886039230
rs886039230
MAP3K7
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		A 0.810 CausalMutation CLINVAR

dbSNP: rs886039235
rs886039235
MAP3K7
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		0.800 GeneticVariation UNIPROT Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome. 27426734

2016
dbSNP: rs886039235
rs886039235
MAP3K7
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs886039237
rs886039237
MAP3K7
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		0.800 GeneticVariation UNIPROT Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome. 27426734

2016
dbSNP: rs886039237
rs886039237
MAP3K7
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs10944489
rs10944489
MAP3K7
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137

2009
dbSNP: rs886039231
rs886039231
MAP3K7
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.700 GeneticVariation UNIPROT Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733

2016
dbSNP: rs886039232
rs886039232
MAP3K7
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.700 GeneticVariation UNIPROT Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733

2016
dbSNP: rs886039233
rs886039233
MAP3K7
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.700 GeneticVariation UNIPROT Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733

2016
dbSNP: rs886039234
rs886039234
MAP3K7
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886039236
rs886039236
MAP3K7
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		A 0.700 CausalMutation CLINVAR