Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
0.900 Biomarker disease CTD_human
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
0.100 CausalMutation disease CLINVAR
Entrez Id: 583
Gene Symbol: BBS2
BBS2
0.100 GeneticVariation disease CLINVAR
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
0.100 GeneticVariation disease CLINVAR
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
0.100 CausalMutation disease CLINVAR
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.100 CausalMutation disease CLINVAR
Entrez Id: 27095
Gene Symbol: TRAPPC3
TRAPPC3
0.100 GeneticVariation disease CLINVAR
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
0.100 CausalMutation disease CLINVAR
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
0.100 GeneticVariation disease CLINVAR
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
0.100 GeneticVariation disease CLINVAR
Entrez Id: 85444
Gene Symbol: LRRCC1
LRRCC1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
0.100 GeneticVariation disease CLINVAR
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
0.900 GeneticVariation disease BEFREE Using these methods, we report striking linkage disequilibrium for diastrophic dysplasia (DTD) in Finland indicating that the DTD gene should lie within 0.06 centimorgans (or about 60 kilobases) of the CSF1R gene. 1345170 1992
Entrez Id: 1728
Gene Symbol: NQO1
NQO1
0.030 GeneticVariation disease BEFREE Using these methods, we report striking linkage disequilibrium for diastrophic dysplasia (DTD) in Finland indicating that the DTD gene should lie within 0.06 centimorgans (or about 60 kilobases) of the CSF1R gene. 1345170 1992
Entrez Id: 92675
Gene Symbol: DTD1
DTD1
0.030 GeneticVariation disease BEFREE Using these methods, we report striking linkage disequilibrium for diastrophic dysplasia (DTD) in Finland indicating that the DTD gene should lie within 0.06 centimorgans (or about 60 kilobases) of the CSF1R gene. 1345170 1992
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
0.010 GeneticVariation disease BEFREE Using these methods, we report striking linkage disequilibrium for diastrophic dysplasia (DTD) in Finland indicating that the DTD gene should lie within 0.06 centimorgans (or about 60 kilobases) of the CSF1R gene. 1345170 1992
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1
0.010 Biomarker disease BEFREE Multipoint linkage analysis performed against a fixed order of markers placed DTD between glucocorticoid receptor (GRL) and SPARC favored by the odds of 33:1 over the next best location of DTD between D5S72 and D5S55. 1783404 1991
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
0.010 Biomarker disease BEFREE Multipoint linkage analysis performed against a fixed order of markers placed DTD between glucocorticoid receptor (GRL) and SPARC favored by the odds of 33:1 over the next best location of DTD between D5S72 and D5S55. 1783404 1991
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.020 GeneticVariation disease BEFREE Multipoint linkage analysis gave a lod score of -2.95, which conclusively excluded the COL2A1 gene as the mutation site in diastrophic dysplasia in these families. 2732992 1989
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
0.900 Biomarker disease BEFREE Five fetuses in families with a previous history of DTD were studied by typing them and their relevant family members for DNA markers closely linked to the DTD gene. 8487268 1993
Entrez Id: 92675
Gene Symbol: DTD1
DTD1
0.030 Biomarker disease BEFREE Five fetuses in families with a previous history of DTD were studied by typing them and their relevant family members for DNA markers closely linked to the DTD gene. 8487268 1993
Entrez Id: 1728
Gene Symbol: NQO1
NQO1
0.030 Biomarker disease BEFREE Five fetuses in families with a previous history of DTD were studied by typing them and their relevant family members for DNA markers closely linked to the DTD gene. 8487268 1993
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
0.900 CausalMutation disease CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239 1996