Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151113
Disease: MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 3 		0.600 Biomarker disease GENOMICS_ENGLAND Meier-Gorlin syndrome. 26381604 2015
CUI: C3151113
Disease: MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 3 		0.600 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: C3151113
Disease: MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 3 		0.600 GeneticVariation disease UNIPROT Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151113
Disease: MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 3 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151113
Disease: MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 3 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 21358632 2011
CUI: C3151113
Disease: MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 3 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical identification of a human equivalent to the short ear (se) murine phenotype. 7710253 1994
CUI: C3151113
Disease: MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 3 		0.600 CausalMutation disease CLINVAR
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.540 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 		0.540 Biomarker disease BEFREE To date, the clinical presentation of ORC6-associated Meier-Gorlin syndrome has been mild compared to other the phenotype associated with other loci. 25691413 2015
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.540 GeneticVariation disease BEFREE Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6. 26139588 2015
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.540 GeneticVariation disease BEFREE Together, our results suggest that Meier-Gorlin syndrome mutations in Orc6 impair the formation of ORC hexamers, interfering with appropriate ORC functions. 24137536 2013
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.540 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 		0.540 GermlineCausalMutation disease ORPHANET 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 		0.540 Biomarker disease CTD_human 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 Clinical identification of a human equivalent to the short ear (se) murine phenotype. 7710253 1994
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 		0.110 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 		0.110 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.100 Biomarker phenotype HPO
CUI: C0014588
Disease: Epispadias
Epispadias 		0.100 Biomarker group HPO