Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation LHGDN FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. 18923003

2009

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
1.000 GeneticVariation LHGDN R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE. 18945288

2009

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease: Choroideremia
Choroideremia
1.000 GeneticVariation LHGDN A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings. 18773267

2009

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation LHGDN From the CARD15 gene mutations in the adult Crohn's disease population the 1007finsC, while in the pediatric population the 1007finsC and the G908R were significantly associated with an increased risk for Crohn's disease. 19103559

2009

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 GeneticVariation LHGDN Disease behavior in children with Crohn's disease: the effect of disease duration, ethnicity, genotype, and phenotype. 18594982

2009

Entrez Id: 64127
Gene Symbol: NOD2
NOD2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 Biomarker LHGDN Our results suggest that NOD2(+) MCs have specific pathogenic roles that involve the recruitment of inflammatory cells in CD. 18938111

2009

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 AlteredExpression LHGDN Hypoxia inducible factor-1 (HIF-1)-mediated repression of cystic fibrosis transmembrane conductance regulator (CFTR) in the intestinal epithelium. 18779379

2009

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation LHGDN This study was performed on Indian CF patients (n = 50) to investigate the spectrum of mutations in the CFTR gene and their association with intragenic and extragenic marker haplotypes. 18782298

2009

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation LHGDN Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability. 19106752

2009

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GeneticVariation LHGDN [Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy]. 19173203

2009

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GeneticVariation LHGDN Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. 18957474

2009

Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
1.000 Biomarker LHGDN The tumor suppressor genes EXT1 and EXT2 are involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas. 19179614

2009

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker LHGDN We propose that the neurological defects in Fragile X syndrome, including the autistic features, could be due in part to the loss of FMRP function in presynaptic compartments. 19193898

2009

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation LHGDN Prion mutation D178N with highly variable disease onset and phenotype. 19228673

2009

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic
1.000 GeneticVariation LHGDN Molecular and clinical consequences of novel mutations in the arylsulfatase A gene. 19021637

2009

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation LHGDN Only 56% of children could be classified as having Marfan syndrome, according to international criteria, at their last follow-up evaluation when the presence of a FBN1 mutation was not considered as a major feature, with increasing frequency in the older age groups. 19117906

2009

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 AlteredExpression LHGDN In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resistance to apoptosis in part by downregulating Bim expression, suggesting that Bim is a possible treatment target for overriding melanoma's inherent defenses against cell death. 18668139

2009

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 GeneticVariation LHGDN In summary, we have identified a group of melanomas with low-activity BRAF mutations that are reliant upon CRAF-mediated survival activity. 18794803

2009

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 AlteredExpression LHGDN Here, we demonstrate that hyperactivation of the MAPK pathway following activation of an inducible form of oncogenic C-Raf induces a senescence-like proliferation arrest in B-Raf mutant melanoma cells. 18650848

2009

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature. 19167611

2009

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 AlteredExpression LHGDN Somatic mutations of adenomatous polyposis coli gene and nuclear b-catenin accumulation have prognostic significance in invasive urothelial carcinomas: evidence for Wnt pathway implication. 18844223

2009

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 GeneticVariation LHGDN Mutations in MECP2 cause classic or preserved speech variant Rett syndrome and intellectual disability in females and early demise or marked neurodevelopmental handicap in males. 18989701

2009

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 Biomarker LHGDN Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism. 19000991

2009

Entrez Id: 7454
Gene Symbol: WAS
WAS
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
1.000 Biomarker LHGDN Active involvement of Robo1 and Robo4 in filopodia formation and endothelial cell motility mediated via WASP and other actin nucleation-promoting factors. 18948384

2009

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
1.000 GeneticVariation LHGDN Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome Family. 18937320

2009