PTHLH, parathyroid hormone like hormone, 5744

N. diseases: 321; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606985
rs267606985
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
CUI: C3150644
Disease:
BRACHYDACTYLY, TYPE E2 		0.800 GeneticVariation UNIPROT Deletion and point mutations of PTHLH cause brachydactyly type E. 20170896 2010
dbSNP: rs267606986
rs267606986
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
CUI: C3150644
Disease:
BRACHYDACTYLY, TYPE E2 		0.800 GeneticVariation UNIPROT Deletion and point mutations of PTHLH cause brachydactyly type E. 20170896 2010
dbSNP: rs267606985
rs267606985
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
CUI: C3150644
Disease:
BRACHYDACTYLY, TYPE E2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267606986
rs267606986
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
CUI: C3150644
Disease:
BRACHYDACTYLY, TYPE E2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1272192
rs1272192
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs267606987
rs267606987
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
CUI: C3150644
Disease:
BRACHYDACTYLY, TYPE E2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267606988
rs267606988
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
CUI: C3150644
Disease:
BRACHYDACTYLY, TYPE E2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267606985
rs267606985
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
CUI: C4551686
Disease:
Malignant neoplasm of soft tissue 		0.010 GeneticVariation BEFREE The missense mutation L60P was tested in chicken micromass culture with the replication-competent avian sarcoma leukosis virus retroviral expression system and was shown to result in a loss of function. 20170896 2010
dbSNP: rs267606985
rs267606985
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
CUI: C1261473
Disease:
Sarcoma 		0.010 GeneticVariation BEFREE The missense mutation L60P was tested in chicken micromass culture with the replication-competent avian sarcoma leukosis virus retroviral expression system and was shown to result in a loss of function. 20170896 2010