Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2
0.610 Biomarker GENOMICS_ENGLAND Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 30914295

2019

Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2
0.610 GeneticVariation UNIPROT Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733

2016

Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2
0.610 Biomarker GENOMICS_ENGLAND Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733

2016

Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2
0.610 Biomarker GENOMICS_ENGLAND Frontometaphyseal dysplasia and keloid formation without FLNA mutations. 25899317

2015