Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder caused by mutation of runt-related transcription factor 2 (RUNX2) gene. 28505335

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT The purpose of this study was to explore novel RUNX2 mutations in seven individuals with CCD and investigate the function of the mutant RUNX2 proteins. 28505335

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT To identify a novel mutation of Runx2 gene in Cleidocranial Dysplasia (CCD) patients and to characterize the functional consequences of this mutation. 28703881

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT The G462X mutation might reduce the Runx2 transacting activity, lower the protein stability, downgrade the expression of bone marker genes, and eventually diminish osteoblast differentiation in CCD patients. 28703881

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT Our results broaden the spectrum of RUNX2 mutations in CCD individuals and demonstrated that loss of function in RUNX2 is responsible for CCD. 28505335

2018

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 Biomarker GENOMICS_ENGLAND Familial dysautonomia: History, genotype, phenotype and translational research. 27317387

2018

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation UNIPROT Identification of two novel mutations in the ATP7B gene that cause Wilson's disease. 28856630

2018

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation UNIPROT The early-onset of Wilson's disease is apparently not associated with P-ATPase domain in the ATP7B protein. 28856630

2018

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation UNIPROT Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene. 28856630

2018

Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV
1.000 GeneticVariation UNIPROT Mutations in neurotrophic receptor tyrosine kinase 1 (NTRK1) have been reported to be associated with CIPA. 28177573

2018

Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV
1.000 GeneticVariation UNIPROT Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies. 28177573

2018

Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV
1.000 GeneticVariation UNIPROT The four novel NTRK1 mutations we report here will expand the repertoire of NTRK1 mutations in CIPA patients, and further our understanding of CIPA pathogenesis. 28177573

2018

Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation UNIPROT Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease. 28035777

2018

Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation UNIPROT In 12%-40% of DD patients and 12%-55% of HHD patients, no mutations in ATP2A2 or ATP2C1 are found. 28035777

2018

Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation UNIPROT Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD. 28035777

2018

Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
1.000 GeneticVariation UNIPROT We provide a comprehensive review of clinical variability in DD and HHD and a review of all reported mutations in ATP2A2 and ATP2C1. 28035777

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation UNIPROT Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu<sup>261</sup> , Leu<sup>262</sup> , and Arg<sup>265</sup> in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. 28074573

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. 28074573

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation UNIPROT Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. 28074573

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 GeneticVariation UNIPROT Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
1.000 Biomarker CLINGEN Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu<sup>261</sup> , Leu<sup>262</sup> , and Arg<sup>265</sup> in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. 28074573

2018

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
1.000 GeneticVariation UNIPROT Strikingly, the four MeCP2-NID residues mutated in RTT are those residues that make the most extensive contacts with TBLR1. 28348241

2018