ORC4, origin recognition complex subunit 4, 5000

N. diseases: 75; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Meier-Gorlin syndrome. 26381604 2015
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 CausalMutation disease CLINVAR Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 CausalMutation disease CLINVAR Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 GeneticVariation disease CLINVAR Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 21358631 2011
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 GeneticVariation disease CLINVAR Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Meier-Gorlin syndrome: report of eight additional cases and review. 11477602 2001
CUI: C3151097
Disease: MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Assignment of the homologue of the yeast origin recognition complex subunit ORC4 (ORC4L) to human chromosome band 2q22-->q23 by in situ hybridization and somatic cell hybrid analysis. 9691185 1998
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.520 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 		0.520 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 		0.520 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 		0.520 GeneticVariation disease BEFREE Using marker-assisted mapping in multiple families from a founder population and traditional coding exon sequencing of positional candidate genes, we identified three different mutations in the gene encoding ORC4, a component of the eukaryotic origin recognition complex, in five individuals with Meier-Gorlin syndrome. 21358631 2011
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.520 Biomarker disease CTD_human Using marker-assisted mapping in multiple families from a founder population and traditional coding exon sequencing of positional candidate genes, we identified three different mutations in the gene encoding ORC4, a component of the eukaryotic origin recognition complex, in five individuals with Meier-Gorlin syndrome. 21358631 2011
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.520 GermlineCausalMutation disease ORPHANET Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease GENOMICS_ENGLAND Assignment of the homologue of the yeast origin recognition complex subunit ORC4 (ORC4L) to human chromosome band 2q22-->q23 by in situ hybridization and somatic cell hybrid analysis. 9691185 1998
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease HPO
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 		0.130 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 		0.130 GeneticVariation disease BEFREE Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. 26381604 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.130 GeneticVariation disease BEFREE Height is dependent on ethnic background and underlying molecular cause, with ORC1 and ORC4 mutations causing more severe short stature and microcephaly. 23023959 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.130 Biomarker disease HPO