Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54704
Gene Symbol: PDP1
PDP1
CUI: C0001122
Disease: Acidosis
Acidosis
0.010 Biomarker LHGDN Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy. 172850

1975

Entrez Id: 133418
Gene Symbol: EMB
EMB
CUI: C0206659
Disease: Embryonal Carcinoma
Embryonal Carcinoma
0.010 Biomarker LHGDN A teratocarcinoma glycoprotein carrying a developmentally regulated carbohydrate marker is a member of the immunoglobulin gene superfamily. 2963822

1988

Entrez Id: 3718
Gene Symbol: JAK3
JAK3
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
0.700 GeneticVariation LHGDN Here we investigate two unrelated T- B+ SCID patients (both from consanguineous parents) who have homozygous mutations in the gene for Jak-3. 7659163

1995

Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
0.400 GeneticVariation LHGDN A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. 8640223

1996

Entrez Id: 11013
Gene Symbol: TMSB15A
TMSB15A
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.010 AlteredExpression LHGDN Thymosin beta 15: a novel regulator of tumor cell motility upregulated in metastatic prostate cancer. 8946830

1996

Entrez Id: 7447
Gene Symbol: VSNL1
VSNL1
CUI: C0017638
Disease: Glioma
Glioma
0.010 Biomarker LHGDN The neuronal calcium-sensor protein VILIP modulates cyclic AMP accumulation in stably transfected C6 glioma cells: amino-terminal myristoylation determines functional activity. 9109541

1997

Entrez Id: 1962
Gene Symbol: EHHADH
EHHADH
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.010 GeneticVariation LHGDN Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. 9185222

1997

Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.800 Biomarker LHGDN Mice harbouring an intragenic deletion in Snrpn are phenotypically normal, suggesting that mutations of SNRPN are not sufficient to induce PWS. 9590284

1998

Entrez Id: 5074
Gene Symbol: PAWR
PAWR
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.070 AlteredExpression LHGDN Par-4 expression was enhanced, and mitochondrial dysfunction and apoptosis exacerbated, in cells expressing presenilin-1 mutations associated with early-onset inherited AD. 9701251

1998

Entrez Id: 1039
Gene Symbol: CDR2
CDR2
Paraneoplastic Cerebellar Degeneration
0.090 Biomarker LHGDN Tumor-specific killer cells in paraneoplastic cerebellar degeneration. 9809559

1998

Entrez Id: 3135
Gene Symbol: HLA-G
HLA-G
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.010 Biomarker LHGDN Increased expression of human histocompatibility leukocyte antigen-G in colorectal cancer cells. 9855710

1998

Entrez Id: 3135
Gene Symbol: HLA-G
HLA-G
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.010 Biomarker LHGDN Increased expression of human histocompatibility leukocyte antigen-G in colorectal cancer cells. 9855710

1998

Entrez Id: 1890
Gene Symbol: TYMP
TYMP
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.340 AlteredExpression LHGDN Thymidine phosphorylase activity in tumor correlates with venous invasion. 9857235

1998

Entrez Id: 7258
Gene Symbol: TSPY1
TSPY1
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
0.100 GeneticVariation LHGDN Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. 10090875

1999

Entrez Id: 7258
Gene Symbol: TSPY1
TSPY1
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.020 GeneticVariation LHGDN Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. 10090875

1999

Entrez Id: 51586
Gene Symbol: MED15
MED15
CUI: C0001857
Disease: AIDS related complex
AIDS related complex
0.010 AlteredExpression LHGDN Composite co-activator ARC mediates chromatin-directed transcriptional activation. 10235267

1999

Entrez Id: 7534
Gene Symbol: YWHAZ
YWHAZ
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.040 Biomarker LHGDN alpha-Synuclein shares physical and functional homology with 14-3-3 proteins. 10407019

1999

Entrez Id: 7534
Gene Symbol: YWHAZ
YWHAZ
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.030 Biomarker LHGDN alpha-Synuclein shares physical and functional homology with 14-3-3 proteins. 10407019

1999

Entrez Id: 2950
Gene Symbol: GSTP1
GSTP1
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 GeneticVariation LHGDN Genetic polymorphism of exon 5 of GSTP1 may be associated with COPD because the GSTP1/Ile105 genotype is predominantly found in COPD. 10413721

1999

Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0023418
Disease: leukemia
leukemia
0.080 AlteredExpression LHGDN Ionizing radiation-induced, Bax-mediated cell death is dependent on activation of cysteine and serine proteases. 10437917

1999

Entrez Id: 274
Gene Symbol: BIN1
BIN1
CUI: C0025202
Disease: melanoma
melanoma
0.020 GeneticVariation LHGDN Our findings suggest that aberrant splicing of Bin1 may contribute to melanoma progression, and they define a mechanism by which the activity of a tumor suppressor can be eliminated in cells. 10449755

1999

Entrez Id: 1039
Gene Symbol: CDR2
CDR2
Paraneoplastic Cerebellar Degeneration
0.090 Biomarker LHGDN Paraneoplastic cerebellar degeneration (PCD) is a disorder in which breast or ovarian tumors express an onconeural antigen termed cdr2, which normally is expressed in cerebellar Purkinje neurons. 10465786

1999

Entrez Id: 64319
Gene Symbol: FBRS
FBRS
CUI: C0016059
Disease: Fibrosis
Fibrosis
0.010 Biomarker LHGDN Fibrosin was not detected in control rats not exhibiting fibrosis. 10493891

1999

Entrez Id: 25802
Gene Symbol: LMOD1
LMOD1
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.010 AlteredExpression LHGDN The 64kD human autoantigen D1 is expressed in slow fibers of extraocular and sternothyroid muscles as a component of myofibrils, and is not upregulated in conditions of hyperthyroidism. 10520227

1999

Entrez Id: 6376
Gene Symbol: CX3CL1
CX3CL1
CUI: C0014038
Disease: Encephalitis
Encephalitis
0.010 AlteredExpression LHGDN Neuronal fractalkine expression in HIV-1 encephalitis: roles for macrophage recruitment and neuroprotection in the central nervous system. 10640747

2000