Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 GeneticVariation disease BEFREE Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus. 29458881 2018
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 Biomarker disease GENOMICS_ENGLAND Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus. 29458881 2018
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 GermlineCausalMutation disease ORPHANET Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. 27925158 2017
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 GeneticVariation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 GeneticVariation disease UNIPROT Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 23456818 2013
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 GeneticVariation disease UNIPROT NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 22499340 2012
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 Biomarker disease CTD_human NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 22499340 2012
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 Biomarker disease GENOMICS_ENGLAND NEK1 mutations cause short-rib polydactyly syndrome type majewski. 21211617 2011
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 Biomarker disease GENOMICS_ENGLAND Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 19361615 2009
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 GeneticVariation disease UNIPROT Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 19361615 2009
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 GeneticVariation disease CLINVAR DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 19442771 2009
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 GeneticVariation disease UNIPROT DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 19442771 2009
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 Biomarker disease MGD
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.910 CausalMutation disease CLINVAR
Entrez Id: 4750
Gene Symbol: NEK1
NEK1 		0.400 Biomarker disease CTD_human NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 22499340 2012
Entrez Id: 4750
Gene Symbol: NEK1
NEK1 		0.400 Biomarker disease CTD_human NEK1 mutations cause short-rib polydactyly syndrome type majewski. 21211617 2011
Entrez Id: 89891
Gene Symbol: WDR34
WDR34 		0.400 CausalMutation disease CLINVAR
Entrez Id: 89891
Gene Symbol: WDR34
WDR34 		0.400 Biomarker disease CTD_human
Entrez Id: 4750
Gene Symbol: NEK1
NEK1 		0.400 CausalMutation disease CLINVAR
Entrez Id: 55112
Gene Symbol: WDR60
WDR60 		0.400 Biomarker disease CTD_human
Entrez Id: 55112
Gene Symbol: WDR60
WDR60 		0.400 CausalMutation disease CLINVAR
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. 27094867 2016
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3 		0.300 Biomarker disease GENOMICS_ENGLAND Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome. 26044959 2015
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3 		0.300 Biomarker disease GENOMICS_ENGLAND The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014