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: 1906
Gene Symbol: EDN1
EDN1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 AlteredExpression LHGDN They also demonstrate that enhancement of the expression of endothelin-1 gene in blood vessels and in the heart of hypertensive rats may occur in the absence of exposure to DOCA and salt, and that endothelin-1 gene overexpression in experimental hypertension occurs early in non-renin-dependent, volume-expanded models such as the one-kidney, one clip or the DOCA-salt hypertensive rat, but only in the progressively non-renin-dependent late phase of the initially renin-dependent volume-contracted two-kidney, one clip hypertensive rat. 12013496

1996
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: 1565
Gene Symbol: CYP2D6
CYP2D6
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.060 Biomarker LHGDN These data suggest that the predisposing CYP2D6 gene may not only increase the risk for bladder cancer among Egyptians, but may also influence the clinicopathological tumor outcome. 18372530

1997
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: 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: 1039
Gene Symbol: CDR2
CDR2
CUI: C0393534
Disease: Paraneoplastic Cerebellar Degeneration
Paraneoplastic Cerebellar Degeneration 		0.090 Biomarker LHGDN Tumor-specific killer cells in paraneoplastic cerebellar degeneration. 9809559

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: 3559
Gene Symbol: IL2RA
IL2RA
CUI: C0031099
Disease: Periodontitis
Periodontitis 		0.030 AlteredExpression LHGDN Free interleukin-2 receptors in children with trisomy 21 (Down's syndrome) and different levels of periodontal disease. 17294624

1998
Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 AlteredExpression LHGDN Free interleukin-2 receptors in children with trisomy 21 (Down's syndrome) and different levels of periodontal disease. 17294624

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: 929
Gene Symbol: CD14
CD14
CUI: C0026766
Disease: Multiple Organ Failure
Multiple Organ Failure 		0.010 Biomarker LHGDN [The significance of changes in serum soluble lipopolysaccharide receptor CD14 levels in burned patients with multiple organ dysfunction syndrome]. 11825494

1998
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.500 AlteredExpression LHGDN [A study on homozygous deletion, hypermethylation, mutation and expression of p16 gene in human breast cancer]. 11869517

1999
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.100 GeneticVariation LHGDN [The mechanism of p16 gene inactivation in human bladder transitional cell carcinoma]. 11869511

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: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 AlteredExpression LHGDN Abnormal expression of p16 gene then becomes involved in the development and metastasis of breast cancer. 11869517

1999
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: 1039
Gene Symbol: CDR2
CDR2
CUI: C0393534
Disease: Paraneoplastic Cerebellar Degeneration
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: 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