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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 CausalMutation disease CLINVAR
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		0.300 ChromosomalRearrangement disease ORPHANET Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. 23169491 2013
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption 		0.100 CausalMutation phenotype CLINVAR
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.100 CausalMutation phenotype CLINVAR
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.100 CausalMutation phenotype CLINVAR
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		0.100 Biomarker disease HPO
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		0.100 Biomarker phenotype HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.020 GeneticVariation disease BEFREE We describe the case of a family in which father and son fulfilled clear cut diagnostic criteria for Gorlin syndrome including multiple basal cell carcinomas, keratocystic odontogenic tumors, atypical skeletal anomalies and a novel PTCH1 germline mutation (c.1041delAA). 24941978 2014
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.020 GeneticVariation disease BEFREE This new Ptch1 allele broadens the mouse genetic reagents available to study the Hedgehog pathway and provides a valuable means to study the underlying skeletal abnormalities in BCNS. 23897749 2013
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.100 Biomarker phenotype HPO
CUI: C4021638
Disease: Absent nasal septal cartilage
Absent nasal septal cartilage 		0.100 Biomarker disease HPO
CUI: C0846967
Disease: Acanthoma
Acanthoma 		0.010 GeneticVariation disease BEFREE We identified FGFR3 and PTCH1 germline polymorphisms whose influence in the development of reticulated acanthomas is unknown. 28627087 2017
CUI: C0345397
Disease: Accessory rib
Accessory rib 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 AlteredExpression group BEFREE Shh was expressed in cytoplasm of dysplastic epithelial cells, while expression of Ptch1, Hip and Gli1 were mainly detected in the malignant crypts of adenocarcinomas. 17461467 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 AlteredExpression group BEFREE Expression of SHH, PTCH, and GLI1 mRNA was higher in PJPs than in normal tissue (P < .05) and gradually increased along the PJP-adenoma-adenocarcinoma sequence (P < .05). 26997450 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.030 GeneticVariation group BEFREE Here, we have analyzed the mutation status of PTCH1 in a series of 33 colorectal serrated adenocarcinomas by sequencing all 23 coding exons. 21234763 2011
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.010 Biomarker disease BEFREE One patient had direct cytological diagnosis of PTC also did not undergo surgical resection/diagnosis due to the advanced primary pancreatic adenocarcinoma. 28261999 2017
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		0.030 AlteredExpression disease BEFREE Forty-seven percent (16 of 34) of papillary carcinomas and one oncocytic carcinoma expressed high RET/PTC1 mRNA levels. 16595592 2006
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		0.030 AlteredExpression disease BEFREE CCI = Charlson Comorbidity Index; CCR = California Cancer Registry; CI = confidence interval; DTC = differentiated thyroid cancer; FTC = follicular thyroid carcinoma; HCC = Hürthle cell carcinoma; IQR = interquartile range; mPTC = papillary thyroid micro-carcinoma; OR = odds ratio; OSPHD = Office of Statewide Health Planning and Development; PTC = papillary thyroid carcinoma. 28816539 2017
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		0.030 Biomarker disease BEFREE RNA was isolated from multinodular goiter (MNG; n=6), papillary carcinoma (PTC, n=14), follicular carcinoma (FC; n=5), and Hürthle cell carcinoma (HCC; n=7). 24559275 2014