Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 GeneticVariation disease UNIPROT A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. 26105076 2015
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 GeneticVariation disease UNIPROT Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. 24129431 2014
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 GeneticVariation disease UNIPROT A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. 15805157 2005
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 CausalMutation disease CLINVAR
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 Biomarker disease GENOMICS_ENGLAND