PTHLH, parathyroid hormone like hormone, 5744

N. diseases: 321; N. variants: 5
Disease: BRACHYDACTYLY, TYPE E2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		0.700 Biomarker disease GENOMICS_ENGLAND Deletion and point mutations of PTHLH cause brachydactyly type E. 20170896 2010
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		0.700 GeneticVariation disease UNIPROT Deletion and point mutations of PTHLH cause brachydactyly type E. 20170896 2010
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		0.700 CausalMutation disease CLINVAR
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		0.700 Biomarker disease CTD_human
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		0.700 Biomarker disease GENOMICS_ENGLAND