Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker MGD Atm-deficient mice: a paradigm of ataxia telangiectasia. 8689683

1996
Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		1.000 Biomarker MGD However, neither the normal function of ATM in the nervous system nor the biological basis of the degeneration in AT is known. 9582124

1998
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 Biomarker MGD 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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 Biomarker MGD The PATCHED (PTC) gene encodes a Sonic hedgehog (Shh) receptor and a tumor suppressor protein that is defective in basal cell nevus syndrome (BCNS). 9262482

1997
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 Biomarker MGD Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome. 9585239

1998
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 Biomarker MGD Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway. 16459298

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 Biomarker MGD Ptc+/- mouse is a useful model of BCNS from the standpoint of occurrence of jaw cysts, and downregulation of ptc protein in cyst lining epithelium caused by gene targeting would be associated with formation of jaw cysts in ptc+/- mice. 12542834

2003
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker MGD Decreased thrombotic tendency in mouse models of the Bernard-Soulier syndrome. 17095718

2007
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker MGD Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size. 15213102

2004
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker MGD Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. 10706630

2000
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker MGD 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 MGD Independent mouse models for Bloom syndrome (BS) exist, each thought to disrupt Blm gene function. 14642567

2003
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker MGD Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. 9808625

1998
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker MGD 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: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker MGD This suggestion may also provide a rational explanation for a previous unexpected finding that cigarette smoking appears to reduce the breast cancer risk of BRCA2 mutation carriers. 14981540

2004
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker MGD Recent studies have suggested a role for the APC I1307K allele as a low-penetrance breast cancer susceptibility gene that enhances the phenotypic effects of BRCA1 and BRCA2 mutations. 11215675

2001
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker MGD

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker MGD

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker MGD

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker MGD

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker MGD

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		1.000 Biomarker MGD Regulatory elements in the immunoglobulin heavy chain gene 3'-enhancers induce c-myc deregulation and lymphomagenesis in murine B cells. 15687498

2005
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		1.000 Biomarker MGD Formation of anomalous lysosomes in monocytes, neutrophils, and eosinophils from bone marrow of mice with Chédiak-Higashi syndrome. 1113502

1975
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		1.000 Biomarker MGD Low natural in vivo resistance to syngeneic leukaemias in natural killer-deficient mice. 7366734

1980
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		1.000 Biomarker MGD Cytoarchitectonic abnormalities in cerebellum and hippocampal formation of beige mutant mouse. 1523694

1992