Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 Biomarker CLINGEN Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. 10545995

1999

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 Biomarker CLINGEN Ptch1-deficient (Ptch1+/-) mice and patients with nevoid basal cell carcinoma syndrome showed high bone mass in adults. 18477452

2008

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. 10887115

2000

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN In this study, we investigated the effects of two naturally occurring mutations in the GPIbbeta gene, C122S and 443delG, on the expression of the GPIb/IX complex identified in a variant type of BSS in which the platelets had severely reduced GPIbalpha ( approximately 10%) and less markedly reduced GPIbbeta and GPIX ( approximately 20%) expression. 16978236

2006

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. 9116284

1997

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN We report a family with Bernard-Soulier syndrome with a homozygous mutation within the GPIb(beta) gene. 12945881

2003

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells. 16409472

2006

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size. 15213102

2004

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN We report here a novel nonsense mutation of the GPIbbeta gene associated with BSS. 12447957

2002

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN Shear-induced platelet aggregation can be mediated by vWF released from platelets, as well as by exogenous large or unusually large vWF multimers, requires adenosine diphosphate, and is resistant to aspirin. 3258770

1988

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor. 12693941

2003

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN Glycoprotein (GP) Ib beta is the critical subunit linking GP Ib alpha and GP IX in the GP Ib-IX complex. Analysis of partial complexes. 8089142

1994

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN Lentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function. 27148783

2016

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
1.000 Biomarker CLINGEN Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes. 12958615

2003

Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
1.000 Biomarker CLINGEN In 102 of the 125 persons in whom at least one BLM mutation was identified, the mutation was recurrent, that is, it was shared by two or more persons with BS; 19 of the 64 different mutations were recurrent. 17407155

2007

Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
1.000 Biomarker CLINGEN Cancer predisposition caused by elevated mitotic recombination in Bloom mice. 11101838

2000

Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
1.000 Biomarker CLINGEN Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 10678659

2000

Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
1.000 Biomarker CLINGEN The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM. 7585968

1995

Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
1.000 Biomarker CLINGEN Persons with the autosomal recessive disorder Bloom syndrome are predisposed to cancers of many types due to loss-of-function mutations in the BLM gene, which encodes a recQ-like helicase. 12242442

2002

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker CLINGEN Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations. 26612714

2016

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker CLINGEN The molecular basis of blood coagulation. 3286010

1988

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker CLINGEN The putative factor IX gene promoter in hemophilia B Leyden. 3416069

1988

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker CLINGEN The X-linked genetic bleeding disorder caused by deficiency of coagulator factor IX, hemophilia B, is a disease ideally suited for gene therapy with genome editing technology. 26964564

2016

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker CLINGEN Hence, a murine model of factor IX (F. IX) deficiency was generated to develop gene therapy strategies for hemophilia B. 9639513

1998

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker CLINGEN Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B. 16643212

2006