Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation LHGDN """Social separation"" among women under 40 years of age diagnosed with breast cancer and carrying a BRCA1 or BRCA2 mutation." 16724273

2006

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation LHGDN """Social separation"" among women under 40 years of age diagnosed with breast cancer and carrying a BRCA1 or BRCA2 mutation." 16724273

2006

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.200 GeneticVariation LHGDN """Sporadic"" familial amyloidotic polyneuropathy in a German patient with B cell lymphocytic leukaemia." 12082059

2002

Entrez Id: 5364
Gene Symbol: PLXNB1
PLXNB1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 AlteredExpression LHGDN """Stem cell like"" breast cancers-a model for the identification of new prognostic/predictive markers in endocrine responsive breast cancer exemplified by Plexin B1." 18417270

2008

Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.100 Biomarker LHGDN "A bidirectional ""alpha(v)beta(3) integrin-ERK1/ERK2 MAPK"" connection regulates the proliferation of breast cancer cells." 16705745

2006

Entrez Id: 5595
Gene Symbol: MAPK3
MAPK3
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.090 Biomarker LHGDN "A bidirectional ""alpha(v)beta(3) integrin-ERK1/ERK2 MAPK"" connection regulates the proliferation of breast cancer cells." 16705745

2006

Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
CUI: C0086543
Disease: Cataract
Cataract
0.700 GeneticVariation LHGDN "A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant ""coral-like"" cataract linked to chromosome 2q." 15041957

2004

Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.370 Biomarker LHGDN "A site involving the ""hybrid"" and PSI homology domains of GPIIIa (beta 3-integrin subunit) is a common target for antibodies associated with quinine-induced immune thrombocytopenia." 12393510

2003

Entrez Id: 3688
Gene Symbol: ITGB1
ITGB1
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.070 Biomarker LHGDN "A specific microdomain (""glycosynapse 3"") controls phenotypic conversion and reversion of bladder cancer cells through GM3-mediated interaction of alpha3beta1 integrin with CD9." 16103120

2005

Entrez Id: 3675
Gene Symbol: ITGA3
ITGA3
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.050 Biomarker LHGDN "A specific microdomain (""glycosynapse 3"") controls phenotypic conversion and reversion of bladder cancer cells through GM3-mediated interaction of alpha3beta1 integrin with CD9." 16103120

2005

Entrez Id: 928
Gene Symbol: CD9
CD9
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 Biomarker LHGDN "A specific microdomain (""glycosynapse 3"") controls phenotypic conversion and reversion of bladder cancer cells through GM3-mediated interaction of alpha3beta1 integrin with CD9." 16103120

2005

Entrez Id: 1045
Gene Symbol: CDX2
CDX2
CUI: C0025568
Disease: Metaplasia
Metaplasia
0.080 AlteredExpression LHGDN "Aberrant expression of an ""intestinal marker"" Cdx2 in pyloric gland adenoma of the gallbladder." 18843504

2008

Entrez Id: 857
Gene Symbol: CAV1
CAV1
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.050 AlteredExpression LHGDN "Caveolae and cell swelling. Focus on ""Stimulation by caveolin-1 of the hypotonicity-induced release of taurine and ATP at basolateral, but not apical, membrane of Caco-2 cells""." 16601146

2006

Entrez Id: 1052
Gene Symbol: CEBPD
CEBPD
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.030 GeneticVariation LHGDN "CCAAT/Enhancer binding protein delta (c/EBPdelta) regulation and expression in human mammary epithelial cells: I. ""Loss of function"" alterations in the c/EBPdelta growth inhibitory pathway in breast cancer cell lines." 15389879

2004

Entrez Id: 5126
Gene Symbol: PCSK2
PCSK2
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 AlteredExpression LHGDN "Comparative tissue distribution of the processing enzymes ""prohormone thiol protease,"" and prohormone convertases 1 and 2, in human PTHrP-producing cell lines and mammalian neuroendocrine tissues." 11720250

2001

Entrez Id: 5122
Gene Symbol: PCSK1
PCSK1
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 AlteredExpression LHGDN "Comparative tissue distribution of the processing enzymes ""prohormone thiol protease,"" and prohormone convertases 1 and 2, in human PTHrP-producing cell lines and mammalian neuroendocrine tissues." 11720250

2001

Entrez Id: 5999
Gene Symbol: RGS4
RGS4
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 AlteredExpression LHGDN "Current progress in schizophrenia research: application of emerging ""gene chip"" technologies in search of genes." 12436019

2002

Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
CUI: C0037061
Disease: Siderosis
Siderosis
0.010 GeneticVariation LHGDN "Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del ""loss of function"" mutations in ferroportin disease." 18160317

2008

Entrez Id: 3606
Gene Symbol: IL18
IL18
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.400 AlteredExpression LHGDN "Interleukin-18-607 promoter polymorphism in sarcoidosis: ignoring ""negative"" results." 16556702

2006

Entrez Id: 3606
Gene Symbol: IL18
IL18
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 AlteredExpression LHGDN "Interleukin-18-607 promoter polymorphism in sarcoidosis: ignoring ""negative"" results." 16556702

2006

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation LHGDN "Molecular underpinning of ""good luck""." 16880338

2006

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 GeneticVariation LHGDN "Molecular underpinning of ""good luck""." 16880338

2006

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 GeneticVariation LHGDN "Molecular underpinning of ""good luck""." 16880338

2006

Entrez Id: 5020
Gene Symbol: OXT
OXT
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 Biomarker LHGDN "Oxytocin improves ""mind-reading"" in humans." 17137561

2007

Entrez Id: 1525
Gene Symbol: CXADR
CXADR
CUI: C3714514
Disease: Infection
Infection
0.030 Biomarker LHGDN "The cell adhesion molecule ""CAR"" and sialic acid on human erythrocytes influence adenovirus in vivo biodistribution." 19119424

2009