DCDC2, doublecortin domain containing 2, 51473

N. diseases: 128; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16889038
rs16889038
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C0035227
Disease:
Respiratory Function Tests 		0.800 GeneticVariation GWASCAT Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. 22837378 2012
dbSNP: rs16889038
rs16889038
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C0035227
Disease:
Respiratory Function Tests 		0.800 GeneticVariation GWASDB Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. 22837378 2012
dbSNP: rs1042640142
rs1042640142
Entrez Id: 51473;353219
Gene Symbol: DCDC2;KAAG1
DCDC2;KAAG1
CUI: C4479344
Disease:
SCLEROSING CHOLANGITIS, NEONATAL 		0.800 GeneticVariation UNIPROT
dbSNP: rs1042640142
rs1042640142
Entrez Id: 51473;353219
Gene Symbol: DCDC2;KAAG1
DCDC2;KAAG1
CUI: C4479344
Disease:
SCLEROSING CHOLANGITIS, NEONATAL 		G 0.800 CausalMutation CLINVAR
dbSNP: rs794729665
rs794729665
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C1857750
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 66 		0.800 GeneticVariation UNIPROT
dbSNP: rs794729665
rs794729665
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C1857750
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 66 		G 0.800 CausalMutation CLINVAR
dbSNP: rs3765502
rs3765502
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs3765502
rs3765502
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C0017654
Disease:
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
dbSNP: rs10806984
rs10806984
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs12189861
rs12189861
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C1269683
Disease:
Major Depressive Disorder 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. 29662059 2018
dbSNP: rs904944428
rs904944428
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C4479344
Disease:
SCLEROSING CHOLANGITIS, NEONATAL 		AT 0.700 CausalMutation CLINVAR Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. 27469900 2016
dbSNP: rs904944428
rs904944428
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C1857750
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 66 		AT 0.700 CausalMutation CLINVAR Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. 27469900 2016
dbSNP: rs794729665
rs794729665
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C3711374
Disease:
Nonsyndromic Deafness 		G 0.700 CausalMutation CLINVAR A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. 25601850 2015
dbSNP: rs1050411259
rs1050411259
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C4479344
Disease:
SCLEROSING CHOLANGITIS, NEONATAL 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554117600
rs1554117600
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C4479344
Disease:
SCLEROSING CHOLANGITIS, NEONATAL 		C 0.700 CausalMutation CLINVAR
dbSNP: rs730880299
rs730880299
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C4479344
Disease:
SCLEROSING CHOLANGITIS, NEONATAL 		A 0.700 CausalMutation CLINVAR
dbSNP: rs730880299
rs730880299
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C4015542
Disease:
NEPHRONOPHTHISIS 19 		A 0.700 CausalMutation CLINVAR
dbSNP: rs757704417
rs757704417
Entrez Id: 51473;353219
Gene Symbol: DCDC2;KAAG1
DCDC2;KAAG1
CUI: C4015542
Disease:
NEPHRONOPHTHISIS 19 		G 0.700 CausalMutation CLINVAR
dbSNP: rs757704417
rs757704417
Entrez Id: 51473;353219
Gene Symbol: DCDC2;KAAG1
DCDC2;KAAG1
CUI: C4479344
Disease:
SCLEROSING CHOLANGITIS, NEONATAL 		G 0.700 CausalMutation CLINVAR
dbSNP: rs760040426
rs760040426
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C4015542
Disease:
NEPHRONOPHTHISIS 19 		C 0.700 CausalMutation CLINVAR
dbSNP: rs909339162
rs909339162
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
CUI: C4015542
Disease:
NEPHRONOPHTHISIS 19 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs938050921
rs938050921
Entrez Id: 51473;353219
Gene Symbol: DCDC2;KAAG1
DCDC2;KAAG1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation BEFREE Globally we show a sex-specific benefit of dietary DHA supplementation in the G93A ALS mouse model, compared with mice fed an isocaloric control or a n-3-depleted diet. 31755041 2020
dbSNP: rs938050921
rs938050921
Entrez Id: 51473;353219
Gene Symbol: DCDC2;KAAG1
DCDC2;KAAG1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation BEFREE These results suggest that a deeper characterization of mechanisms involved in PACAP/EGFR/MMP-2 axis activation in G93A SOD1 mutated neurons may allow identifying new targets for ALS therapy. 30238989 2019
dbSNP: rs938050921
rs938050921
Entrez Id: 51473;353219
Gene Symbol: DCDC2;KAAG1
DCDC2;KAAG1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation BEFREE (4) Conclusion: Besides the established histaminergic neuroprotective and anti-inflammatory effects, the induction of the heat shock response in the SOD1-G93A model by histamine confirms the importance of this pathway in the search for successful therapeutic solutions to treat ALS. 31382568 2019
dbSNP: rs938050921
rs938050921
Entrez Id: 51473;353219
Gene Symbol: DCDC2;KAAG1
DCDC2;KAAG1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation BEFREE Therefore, in the present study, we investigated neuroprotective effects of taurine from glutamate excitotoxicity using motor neuron cells, mtSOD1 (G93A) transgenic cell line model of ALS (NSC-34/hSOD1G93A cells). 28849508 2018