DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Gene: PTCH1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

CausalMutation

CLINVAR

Manifestations of Gorlin-Goltz syndrome.

24814739

2014

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

GeneticVariation

CLINVAR

Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).

21834049

2011

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

GeneticVariation

CLINVAR

Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.

20068110

2010

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

GeneticVariation

CLINVAR

PTCH1 mutations in odontogenic keratocysts: are they related to epithelial cell proliferation?

19362041

2009

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

GeneticVariation

CLINVAR

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

18502968

2008

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

CausalMutation

CLINVAR

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

18502968

2008

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

CausalMutation

CLINVAR

Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.

16906569

2006

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

GeneticVariation

CLINVAR

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

15712338

2005

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

GeneticVariation

CLINVAR

PTCH gene mutations in odontogenic keratocysts.

10890722

2000

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

CausalMutation

CLINVAR

Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online.

10200051

1998

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

CausalMutation

CLINVAR

Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

9620294

1998

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.100

CausalMutation

CLINVAR

Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

8981943

1997