BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21
Disease: OROFACIAL CLEFT 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.710 GeneticVariation disease UNIPROT Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. 19249007 2009
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. 18252212 2008
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.710 GeneticVariation disease BEFREE Thus, a novel genomic region on 18q21.1 was identified that most likely harbors a high-risk variant for NSCL/P in this family; we propose to name this locus "OFC11" (orofacial cleft 11). 17564975 2007
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.710 Biomarker disease GENOMICS_ENGLAND [A preliminary report on fluorescent staining of CSF cells]. 2427285 1986
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.710 CausalMutation disease CLINVAR
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.710 Biomarker disease CTD_human
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.710 Biomarker disease GENOMICS_ENGLAND