PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.010 Biomarker disease BEFREE Thus far only the point mutations in the P53 gene from squamous cell carcinomas and BCCs, and in PTCH gene from BCC of xeroderma pigmentosum (XP) patients appear to be unambiguously attributable to solar UV radiation. 11684448 2001
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.100 CausalMutation phenotype CLINVAR
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.010 GeneticVariation disease BEFREE New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome. 17950424 2007
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.010 Biomarker disease LHGDN New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome. 17950424 2007
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation phenotype CLINVAR
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging 		0.100 Biomarker disease HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		0.100 CausalMutation disease CLINVAR
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.020 Biomarker group BEFREE Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit. 26782978 2016
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.020 GeneticVariation group BEFREE Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci. 24124115 2013
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0457521
Disease: Unicystic ameloblastoma
Unicystic ameloblastoma 		0.010 GeneticVariation disease BEFREE Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome. 22559979 2012
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.030 Biomarker disease BEFREE In addition, the activation of PLD by pervanadate triggered phosphorylation of tyrosine 705 residue on STAT-3, and its phosphorylation was dramatically higher in TPC-1 cells (from papillary carcinoma) that have an endogenous RET/PTC1 than in ARO cells (from anaplastic carcinoma) without alteration of total STAT-3 expression. 18498667 2008
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.030 Biomarker disease BEFREE RET rearrangements are restricted to a well-differentiated papillary carcinoma, suggesting that RET/PTC positive papillary carcinomas do not progress to undifferentiated carcinoma. 15368067 2005
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.030 GeneticVariation disease BEFREE PTCH1 Mutation in a Patient With Metastatic Undifferentiated Carcinoma With Clear Cell Change. 31319387 2019
CUI: C0855073
Disease: Undifferentiated (Embryonal) Sarcoma
Undifferentiated (Embryonal) Sarcoma 		0.010 Biomarker disease BEFREE Expression of GLI1 with or without PTCH was detected in substantial subsets of embryonal RMS (ERMS) and US tumors but only rarely in alveolar RMS tumors. 21618411 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.050 AlteredExpression phenotype BEFREE PTCH1 expression in the SHH pathway was possibly involved in gastric cancer tumor progression, and could be a useful indicator for the prognosis of gastric cancer. 22456124 2012
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.050 Biomarker phenotype BEFREE Thyroid carcinomas from mice bearing a thyroid-targeted ret/PTC1 oncogene were studied for responsiveness to endogenous thyroid-stimulating hormone (TSH) to evaluate the effect of TSH on tumor progression. 9121114 1997
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.050 Biomarker phenotype BEFREE However, the prevalence of RET/PTC differs considerably among investigators, and its impact on cancer progression has been controversial. 19495791 2009
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.050 Biomarker phenotype BEFREE PTCH1 has multiple splicing variants, which all share the same 3'UTR sequence, meanwhile, emerging studies have shown competing endogenous RNAs (ceRNAs) play important roles in regulating cancer progression. 29435142 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.050 Biomarker phenotype BEFREE Overall alterations (deletion, promoter methylation) of FANCC and PTCH1 were high in mild dysplasia and comparable in subsequent stages of tumor progression. 21861228 2012
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.020 Biomarker phenotype BEFREE Here we have used Ptc1(+/-); p53(-/-) mice which develop medulloblastoma to test the ability of cyclopamine to inhibit endogenous tumor growth in vivo after tumor initiation through intraperitoneal delivery, which avoids the brain damage associated with direct injection. 15652709 2005