Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014780
Disease: OROFACIODIGITAL SYNDROME XIV
OROFACIODIGITAL SYNDROME XIV 		0.700 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
CUI: C4014780
Disease: OROFACIODIGITAL SYNDROME XIV
OROFACIODIGITAL SYNDROME XIV 		0.700 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
CUI: C4014780
Disease: OROFACIODIGITAL SYNDROME XIV
OROFACIODIGITAL SYNDROME XIV 		0.700 GermlineCausalMutation disease ORPHANET The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C4014780
Disease: OROFACIODIGITAL SYNDROME XIV
OROFACIODIGITAL SYNDROME XIV 		0.700 GeneticVariation disease UNIPROT The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C4014780
Disease: OROFACIODIGITAL SYNDROME XIV
OROFACIODIGITAL SYNDROME XIV 		0.700 Biomarker disease GENOMICS_ENGLAND The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C4014780
Disease: OROFACIODIGITAL SYNDROME XIV
OROFACIODIGITAL SYNDROME XIV 		0.700 Biomarker disease GENOMICS_ENGLAND The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C4014780
Disease: OROFACIODIGITAL SYNDROME XIV
OROFACIODIGITAL SYNDROME XIV 		0.700 Biomarker disease CTD_human
CUI: C4014780
Disease: OROFACIODIGITAL SYNDROME XIV
OROFACIODIGITAL SYNDROME XIV 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4014780
Disease: OROFACIODIGITAL SYNDROME XIV
OROFACIODIGITAL SYNDROME XIV 		0.700 CausalMutation disease CLINVAR
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.510 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
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.510 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
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.510 Biomarker disease CTD_human The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.510 Biomarker disease BEFREE The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.510 Biomarker disease GENOMICS_ENGLAND The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 GeneticVariation disease BEFREE Recently, mutations in the gene encoding the centriolar protein C2CD3 have been described in two families with a new sub-type of OFDS (OFD14), with microcephaly and cerebral malformations. 27094867 2016
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 Biomarker disease CTD_human The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 Biomarker disease BEFREE The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		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
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.300 Biomarker group CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.300 Biomarker disease CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		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
CUI: C0026363
Disease: Mohr Syndrome
Mohr Syndrome 		0.300 Biomarker disease CTD_human The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE Here we describe a third family with novel compound heterozygous C2CD3 mutations in two fetuses with a different clinical presentation, dominated by skeletal dysplasia with no microcephaly. 27094867 2016