Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.620 GeneticVariation disease BEFREE We examined a collection of rare Cdt1 variants that cause a form of primordial dwarfism (Meier-Gorlin syndrome) plus one hypomorphic Drosophila allele to shed light on Cdt1 function. 30281379 2018
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.620 GeneticVariation disease BEFREE A form of dwarfism known as Meier-Gorlin syndrome (MGS) is caused by recessive mutations in one of six different genes (ORC1, ORC4, ORC6, CDC6, CDT1, and MCM5). 29036220 2017
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.620 GermlineCausalMutation disease ORPHANET Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities. 23516378 2013
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.620 GeneticVariation disease CLINVAR Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. 23023959 2012
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.620 GeneticVariation disease CLINVAR Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. 22333897 2012
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.620 GeneticVariation disease CLINVAR Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.620 Biomarker disease CTD_human Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.620 GermlineCausalMutation disease ORPHANET Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151120
Disease: MEIER-GORLIN SYNDROME 4
MEIER-GORLIN SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151120
Disease: MEIER-GORLIN SYNDROME 4
MEIER-GORLIN SYNDROME 4 		0.600 GeneticVariation disease UNIPROT Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
CUI: C3151120
Disease: MEIER-GORLIN SYNDROME 4
MEIER-GORLIN SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151120
Disease: MEIER-GORLIN SYNDROME 4
MEIER-GORLIN SYNDROME 4 		0.600 GeneticVariation disease UNIPROT Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151120
Disease: MEIER-GORLIN SYNDROME 4
MEIER-GORLIN SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND Structural basis for inhibition of the replication licensing factor Cdt1 by geminin. 15286659 2004
CUI: C3151120
Disease: MEIER-GORLIN SYNDROME 4
MEIER-GORLIN SYNDROME 4 		0.600 CausalMutation disease CLINVAR
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease GENOMICS_ENGLAND Structural basis for inhibition of the replication licensing factor Cdt1 by geminin. 15286659 2004
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE Surprisingly, one dwarfism allele ( Cdt1-A66T) is more active than WT Cdt1. 30281379 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE A form of dwarfism known as Meier-Gorlin syndrome (MGS) is caused by recessive mutations in one of six different genes (ORC1, ORC4, ORC6, CDC6, CDT1, and MCM5). 29036220 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		0.100 Biomarker phenotype HPO