Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN "The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the ""early"" prepolycythemic phase of polycythemia vera and essential thrombocythemia." 18701405

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation LHGDN "The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the ""early"" prepolycythemic phase of polycythemia vera and essential thrombocythemia." 18701405

2008

Entrez Id: 9575
Gene Symbol: CLOCK
CLOCK
CUI: C4042891
Disease: Sleep Wake Disorders
Sleep Wake Disorders
0.010 GeneticVariation LHGDN "Two new rare variants in the circadian ""clock"" gene may influence sleep pattern." 16024980

2005

Entrez Id: 2623
Gene Symbol: GATA1
GATA1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.900 GeneticVariation LHGDN "Why the disorder induced by GATA1 Arg216Gln mutation should be called ""X-linked thrombocytopenia with thalassemia"" rather than ""X-linked gray platelet syndrome""." 17881640

2007

Entrez Id: 335
Gene Symbol: APOA1
APOA1
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.020 Biomarker LHGDN "[Pathology and chemical verification and detection of ""risk group"" of endogenous psychosis]." 12722515

2003

Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.500 Biomarker LHGDN ''Minor'' BCL2 breakpoints in follicular lymphoma: frequency and correlation with grade and disease presentation in 236 cases. 17652637

2007

Entrez Id: 2191
Gene Symbol: FAP
FAP
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.080 AlteredExpression LHGDN 'Increased expression of seprase, a membrane-type serine protease, is associated with lymph node metastasis in human colorectal cancer'. 16196122

2005

Entrez Id: 2191
Gene Symbol: FAP
FAP
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.030 AlteredExpression LHGDN 'Increased expression of seprase, a membrane-type serine protease, is associated with lymph node metastasis in human colorectal cancer'. 16196122

2005

Entrez Id: 2944
Gene Symbol: GSTM1
GSTM1
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.060 GeneticVariation LHGDN 'Null' genotypes of GSTM1 and T1 are associated with IBD and the combination of the two GST genotypes further increases the risk, possibly due to gene-gene interaction. 17565649

2007

Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension
0.020 AlteredExpression LHGDN (1) PIH, especially PE, is accompanied by overexpression of intercellular adhesion molecule-1 (ICAM-1) on peripheral blood and decidual lymphocytes studied "in vitro", (2) Some of the parameters studied seem to correlate with clinical markers of PIH intensity but this fact needs further investigations using larger subject groups. 12039084

2002

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 GeneticVariation LHGDN (1) Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by the expansion of polymorphic CAG repeats beyond 36 at exon 1 of huntingtin gene (htt). 17902043

2007

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.400 AlteredExpression LHGDN (1) p53 protein detection, VEGF expression and IMVD can be considered as a biological indicator of malignant potential in brain astrocytoma patients and (2) p53 and VEGF expressions, both contributing to the tumor neovascularization, may be helpful in the understanding of intra-tumoral angiogenetic mechanism in the future. 11783119

2001

Entrez Id: 56729
Gene Symbol: RETN
RETN
CUI: C0021368
Disease: Inflammation
Inflammation
0.030 Biomarker LHGDN (1) Resistin was detected in all AF samples; (2) the median AF resistin concentration at term was significantly higher than in the mid-trimester (23.6 ng/mL vs. 10 ng/mL; p < 0.001); (3) among patients with PTL, the median AF resistin concentration was significantly higher in patients with IAI than in those without IAI (144.9 ng/mL vs. 18.7 ng/mL; p < 0.001) and those with PTL and intact membranes who delivered at term (144.9 ng/mL vs. 16.3 ng/mL; p < 0.001); (4) patients with PPROM with IAI had a significantly higher median AF resistin concentration than those without IAI (132.6 ng/mL vs. 13 ng/mL; p < 0.001); (5) no significant differences were observed in the median AF resistin concentration between patients with spontaneous labour at term and those at term not in labour (28.7 ng/mL vs. 23.6 ng/mL; p = 0.07); and (6) AF resistin concentration > or =37 ng/mL (derived from a receiver-operating characteristic curve) had a sensitivity of 85.4% and a specificity of 94.3% for the diagnosis of intra-amniotic inflammation. 19065463

2008

Entrez Id: 10855
Gene Symbol: HPSE
HPSE
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.020 AlteredExpression LHGDN (1) All patients with nephrotic syndrome exhibited higher levels of Hpa mRNA than those of the healthy group (P < 0.05). 15144715

2004

Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.400 AlteredExpression LHGDN (1) The expression of IL-1beta mRNA and IL-8 mRNA was increased significantly in patients with UC, as compared with that in the control specimens (P < 0.05) and had a significant positive correlation with NF-kappaB DNA binding activity (r = 0.8363, P < 0.05; r = 0.6024, P < 0.05, respectively). 12133438

2002

Entrez Id: 133
Gene Symbol: ADM
ADM
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.020 AlteredExpression LHGDN (2) In COPD patients without pulmonary lobe resection, the plasma ADM level of group B was significantly higher than that of group A (P < 0.05), and the plasma ADM level had a significantly positive correlation with mPAP and pulmonary vascular resistance (PVR), but a negative correlation with PaO(2). 14720432

2003

Entrez Id: 1312
Gene Symbol: COMT
COMT
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation LHGDN (3) The COMT genotype is related to performance on prefrontal cortex-dependent tasks and may contribute to the deficit in prefrontal-dependent memory processes in SPD as it does in schizophrenia. 16691129

2006

Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 AlteredExpression LHGDN (3) The breast cancers with bone metastasis were more likely to be estrogen receptor positive (85%) and androgen receptor positive (95%) compared with those without bone metastasis (59% and 74%, respectively, both P < .05). 18715613

2008

Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.600 GeneticVariation LHGDN (3) There is a synergistic effect between the polymorphism of ACE gene and CYP11B2 gene to result in LVH in EH. 12133420

2002

Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.070 GeneticVariation LHGDN (3) There is a synergistic effect between the polymorphism of ACE gene and CYP11B2 gene to result in LVH in EH. 12133420

2002

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.320 AlteredExpression LHGDN (4) COX-2, PPARgamma, Bcl-2, and survivin were overexpressed in gastric tumor, but the inhibition of COX-2 activity by Vioxx resulted in a significant reduction in serum and tumor levels of progastrin and gastrin and serum IL-8 and TNF-alpha levels, suggesting that gastrin and proinflammatory cytokines could mediate the up-regulation of COX-2 in gastric cancerogenesis. 14627349

2003

Entrez Id: 942
Gene Symbol: CD86
CD86
CUI: C0004096
Disease: Asthma
Asthma
0.230 Biomarker LHGDN (4) In asthma group there was a significantly positive correlation of CD86 MFI on CD(14)(+) cell with CD19 and CD86 double positive cell percentage (r = 0.644), there was a significantly positive correlation of CD(19)(+)CD(86)(+)cells percentage with plasma total IgE (r = 0.537); there was a significantly positive correlation of CD(19)(+)cells percentage with the levels of IL-4 and IL-13 (r = 0.607, 0.540 respectively); a significantly positive correlation of CD(19)(+)CD(86)(+) percentage cells with the levels of IL-4 and IL-13 was found (r = 0.617, 0.678, respectively). 15059478

2004

Entrez Id: 7024
Gene Symbol: TFCP2
TFCP2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 AlteredExpression LHGDN (4) The virtual screen identified CP2/LBP-1c/LSF as a factor that likely mediates enhanced transcription of GARS-AIRS-GART in DS-related AD. 17902044

2007

Entrez Id: 2618
Gene Symbol: GART
GART
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 AlteredExpression LHGDN (4) The virtual screen identified CP2/LBP-1c/LSF as a factor that likely mediates enhanced transcription of GARS-AIRS-GART in DS-related AD. 17902044

2007

Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 GeneticVariation LHGDN (AC) dinucleotide repeat polymorphism in intron 1 of human EGFR shows ethnic specificities and high evidence for association with breast cancer. 18161656

2008