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 and MAPK signaling in chondrocytes promote synchondrosis closure and fusion of ossification centers in human cases of homozygous achondroplasia and thanatophoric dysplasia. 18923003

2009

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
1.000 GeneticVariation LHGDN A single nucleotide deletion located in exon 3 resulted in a frameshift mutation in HGD gene in family with alkaptonuria. 18945288

2009

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

2009

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation LHGDN These two cases are the first report of cystic fibrosis associated with a delta F508 mutation in a Taiwanese patient attributable to a mutation most commonly seen in Caucasians. 19166122

2009

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation LHGDN Eight novel mutations were identified in CFTR in Indian Cystic fibrosis patients. 18782298

2009

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation LHGDN the F508C variant in CFTR protein may represent a pathogenic defect and lead to congenital bilateral absence of the vas deferens when combined with a second cystic fibrosis transmembrane conductance regulator mutation. 19092444

2009

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker LHGDN gene therapy target for cystic fibrosis 18600482

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: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 AlteredExpression LHGDN The role of hypoxia inducible factor-1 on the expression of cystic fibrosis transmembrane conductance regulator and chloride and water flux in intestinal cells is reported. 18779379

2009

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GeneticVariation LHGDN The frequency of deletions was 67.5% in 26 Mexican families with signs of Duchenne/Becker muscular dystrophy/were at the 5'end & in the central region, exons 44 to 52, of the gene. 19173203

2009

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
1.000 GeneticVariation LHGDN A mutation in the donor splice junction at the end of dystrophin exon 62 was associated with human Duchenne Muscular Dystrophy. 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 gene EXT1 is involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas. 19179614

2009

Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
1.000 GeneticVariation LHGDN detected mutations in EXT1 or EXT2 in 30 (70%) out of 43 families.results suggest the presence of other gene (s) responsible for multiple osteochondromas, at least in Japanese patients 18976157

2009

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
1.000 Biomarker LHGDN The neurological defects in fragile X syndrome could be due in part to the loss of FMRP function in presynaptic compartments. 19193898

2009

Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
1.000 PosttranslationalModification LHGDN DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia. 18697824

2009

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN A quantitative relationship between mutated ATPase and Menkes/Wilson disease, is shown. 18688737

2009

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 GeneticVariation LHGDN Spectrum of VHL germline mutations in a Chinese population is similar to that observed in Western population, and genetic testing can be powerful in diagnosis and clinical management of von Hippel Lindau disease. 18446368

2009

Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome
1.000 GeneticVariation LHGDN Croatian female with clinical incontinentia pigmenti phenotype having de novo genomic rearrangements in the NEMO gene is described 19149237

2009

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
1.000 GeneticVariation LHGDN This report adds further evidence to a continuous spectrum between fatal familial insomnia and CJD thesis from a large German prion pedigree with D178N mutation in the PRNP gene. 19228673

2009

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperpyrexia due to anesthesia
1.000 GeneticVariation LHGDN A high-risk cluster of haplotypes is associated with the commonest UK malignant hyperthermia mutation. 18945287

2009

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation LHGDN FBN1 pseudoexon mutation is associated with Marfan syndrome. 18795226

2009

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation LHGDN In addition to classic Marfan syndrome (MFS), pathogenic FBN1 mutations described in this review are responsible for a large phenotypic spectrum ranging from neonatal MFS to mild clinical entities. 19117906

2009

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 AlteredExpression LHGDN 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: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 AlteredExpression LHGDN N-RAS (Q61K) and B-RAF (V600E) contribute to melanoma's resistance to apoptosis in part by downregulating Bim expression 18668139

2009

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0025202
Disease: melanoma
melanoma
1.000 GeneticVariation LHGDN study identified a group of melanomas with low-activity BRAF mutations (G469E- and D594G) that are reliant upon CRAF-mediated survival activity 18794803

2009