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
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.610 Biomarker disease 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
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.610 GeneticVariation disease BEFREE Less than 20 patients with FMD2 and MAP3K7 mutations have been described thus far. 29660408 2018
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.610 GermlineCausalMutation disease ORPHANET Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733 2016
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.610 GeneticVariation disease BEFREE Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733 2016
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.610 GeneticVariation disease UNIPROT Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733 2016
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 27426733 2016
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.610 Biomarker disease GENOMICS_ENGLAND Frontometaphyseal dysplasia and keloid formation without FLNA mutations. 25899317 2015
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.610 Biomarker disease CTD_human
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.610 CausalMutation disease CLINVAR
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.330 GeneticVariation disease BEFREE We confirm alterations in six genes previously associated with prostate cancer (MAP3K7, MELK, RCBTB2, ELAC2, TPD52, ZBTB4), and also identify 94 genes not previously linked to prostate cancer progression that would not have been detected using either transcript or copy number data alone. 26501111 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.330 GeneticVariation disease BEFREE In summary, our study identifies MAP3K7 deletion as a prominent feature in ERG-negative prostate cancer with strong association to tumor aggressiveness. 23370768 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.330 GeneticVariation disease BEFREE Our study provides strong evidence for the first time that a small deletion at 6q15, including the MAP3K7 gene and four other genes, is associated with high-grade prostate cancers. 17785553 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.330 Biomarker disease CTD_human Global analysis of differentially expressed genes in androgen-independent prostate cancer. 17199135 2007
CUI: C0005398
Disease: Cholestasis, Extrahepatic
Cholestasis, Extrahepatic 		0.300 Biomarker disease CTD_human Hepatoprotective activities of rosmarinic acid against extrahepatic cholestasis in rats. 28789951 2017
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		0.300 Biomarker disease GENOMICS_ENGLAND These findings show that dysregulation of the TAK1 complex produces a close phenocopy of FMD caused by FLNA mutations. 27426733 2016
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Global analysis of differentially expressed genes in androgen-independent prostate cancer. 17199135 2007
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.110 AlteredExpression disease BEFREE TAK1 protein levels were overexpressed in PDA tissues and cell lines. 28194669 2017
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.110 Biomarker disease BEFREE The presented workflow employed three different peptide microarray formats to discover and resolve the epitopes of human autoantibodies and revealed two potentially new autoantigens: MAP3K7 in multiple sclerosis and NRXN1 in narcolepsy. 28121444 2017