BMP5, bone morphogenetic protein 5, 653

N. diseases: 43; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C3850155
Disease: Congenital Microtia
Congenital Microtia 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.200 Biomarker disease MGD
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.010 AlteredExpression disease BEFREE Therefore, BMP-5 gene expression seems to be associated with MS and CJD lesions, whereas the BMP-4 gene appears to be constitutively expressed in the human brain. 7572083 1995
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 AlteredExpression disease BEFREE PCR analysis of human cell lines demonstrate BMP-4 and BMP-5 expression in leukocytic cells, suggesting that infiltrating leukocytes contribute at least in part to BMP-4 and BMP-5 mRNAs of the MS plaque. 7572083 1995
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		0.010 AlteredExpression disease BEFREE Therefore, BMP-5 gene expression seems to be associated with MS and CJD lesions, whereas the BMP-4 gene appears to be constitutively expressed in the human brain. 7572083 1995
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE Our findings suggest that BMP-2/4 and BMP-5 but not BMPR-IA might be involved in the metastasis of oral carcinoma cells. 11287276 2001
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 Biomarker disease BEFREE All cases of SCC showed positive staining for BMP-2/4, BMP-5, BMPR-IA and bBMP-McAb except for three cases and one case of SCC which negatively stained for BMP-2/4 and BMP-5, respectively. 11287276 2001
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.010 AlteredExpression disease LHGDN Transcriptional mRNA of BMP-2, 3, 4 and 5 in trigeminal nerve, benign and malignant peripheral nerve sheath tumors. 11642720 2001
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		0.010 Biomarker group BEFREE Our results indicate that there was an overexpression of BMP-2/4, BMP-5, bBMP-McAb and BMPR-IA in the high-risk premalignant and malignant lesions of oral epithelium. 11287276 2001
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 AlteredExpression phenotype LHGDN Expression of bone morphogenetic proteins in human metastatic prostate and breast cancer. 15861517 2005
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.060 AlteredExpression disease LHGDN Validation by PCR confirmed these data in RA (p < 0.002) and also revealed a significant decrease in BMP-4 and BMP-5 expression in OA compared with ND (p < 0.015). 16542506 2006
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.060 AlteredExpression disease BEFREE Validation by PCR confirmed these data in RA (p < 0.002) and also revealed a significant decrease in BMP-4 and BMP-5 expression in OA compared with ND (p < 0.015). 16542506 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 AlteredExpression disease LHGDN Decrease in expression of bone morphogenetic proteins 4 and 5 in synovial tissue of patients with osteoarthritis and rheumatoid arthritis. 16542506 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 AlteredExpression disease BEFREE Validation by PCR confirmed these data in RA (p < 0.002) and also revealed a significant decrease in BMP-4 and BMP-5 expression in OA compared with ND (p < 0.015). 16542506 2006
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.060 GeneticVariation disease LHGDN In this study, we examined the differential allelic expression (DAE) of BMP5 in human mesenchymal tissues obtained from 16 donors undergoing joint replacement for treatment of osteoarthritis. 17220169 2007
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 AlteredExpression group BEFREE Loss of function mutations in the bone morphogenetic protein 5 (bmp5) gene leading to under-expression of BMP5 cause the murine short ear syndrome, characterized by small malformed ears and a broad range of axial skeletal malformations. 17345627 2007
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		0.010 AlteredExpression disease BEFREE Our data suggest that dysregulated expression of BMP4 and BMP5 genes is associated with an array of human axial skeletal abnormalities similar to the short ear mouse and FOP. 17345627 2007
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 AlteredExpression disease BEFREE Our data suggest that dysregulated expression of BMP4 and BMP5 genes is associated with an array of human axial skeletal abnormalities similar to the short ear mouse and FOP. 17345627 2007
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.310 Biomarker disease BEFREE The Gsc gene and the BMP5 maternal peptide gene may act as the predisposing genes of microtia. 19935299 2009
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.110 GeneticVariation disease BEFREE In this study, we aimed to further categorize the association of variants within intron 1 of BMP5 with OA through an expanded genetic association study of the intron and subsequent functional analysis of associated polymorphisms. 20021689 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.060 GeneticVariation disease BEFREE Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis. 20021689 2009
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex 		0.010 AlteredExpression group BEFREE Quantitative PCR analysis revealed down-regulation of BMP2 and BMP5 in tissue samples from adrenocortical carcinoma and adrenocortical tumor cell lines compared with normal adrenal glands. 19584291 2009
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.010 AlteredExpression disease BEFREE Quantitative PCR analysis revealed down-regulation of BMP2 and BMP5 in tissue samples from adrenocortical carcinoma and adrenocortical tumor cell lines compared with normal adrenal glands. 19584291 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.060 GeneticVariation disease BEFREE OA patients and controls from three European populations (Greece, Spain and the UK) adding up to 1003 patients (716 women, 287 men) that had undergone total knee joint replacement (TKR) due to severe primary OA and 1543 controls (758 women, 785 men) lacking clinical signs or symptoms of OA were genotyped for the D6S1276 microsatellite in intron 1 of BMP5. 23186552 2012