PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Childhood Medulloblastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755103500
rs755103500
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0278510
Disease:
Childhood Medulloblastoma 		0.010 GeneticVariation BEFREE We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801 2009
dbSNP: rs766905791
rs766905791
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0278510
Disease:
Childhood Medulloblastoma 		0.010 GeneticVariation BEFREE We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801 2009