Disease: Forney Robinson Pascoe syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		0.710 GeneticVariation phenotype BEFREE We report on a 7-year-old girl with CSCFS due to the novel heterozygous c.737-7A>G variant in MAP3K7. 29467388 2018
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		0.710 Biomarker phenotype GENOMICS_ENGLAND Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733 2016
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		0.710 GermlineCausalMutation phenotype ORPHANET Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome. 27426734 2016
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		0.710 GeneticVariation phenotype UNIPROT Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome. 27426734 2016
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		0.710 Biomarker phenotype CTD_human
CUI: C2931461
Disease: Forney Robinson Pascoe syndrome
Forney Robinson Pascoe syndrome 		0.710 CausalMutation phenotype CLINVAR