PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
Disease: Medulloblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.610 GeneticVariation disease BEFREE We have characterized the genomic structure of PTCH2 and have used single-stranded conformational polymorphism analysis to search for mutations in PTCH2 in NBCCS patients, basal cell carcinomas and in medulloblastomas. 9931336 1999
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.610 Biomarker disease HPO
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.610 Biomarker disease CTD_human
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.610 CausalMutation disease CLINVAR