EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
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 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.
|
25689043 |
2015 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6.
|
26637980 |
2015 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.
|
25689043 |
2015 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
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 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
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 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the ORC1 BAH domain has been implicated in the aetiology of Meier-Gorlin syndrome (MGS), a form of primordial dwarfism, and ORC1 depletion in zebrafish results in an MGS-like phenotype.
|
22398447 |
2012 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
|
22333897 |
2012 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.
|
22855792 |
2012 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
We suggest that the Orc1 mutations present in some Meier-Gorlin syndrome patients contribute to the pronounced microcephaly and dwarfism observed in these individuals by altering centrosome duplication in addition to DNA replication defects.
|
22855792 |
2012 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
Biomarker
|
disease |
CTD_human |
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
|
21358632 |
2011 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
|
21358633 |
2011 |
EAR, PATELLA, SHORT STATURE SYNDROME
|
0.650 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
|
21358632 |
2011 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.
|
25689043 |
2015 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.
|
22855792 |
2012 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
|
23023959 |
2012 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
|
21358632 |
2011 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
|
21358631 |
2011 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
|
21358632 |
2011 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
|
21358633 |
2011 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
|
21358633 |
2011 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
|
21358632 |
2011 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
|
21358631 |
2011 |
MEIER-GORLIN SYNDROME 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expression of the HsOrc1 gene, a human ORC1 homolog, is regulated by cell proliferation via the E2F transcription factor.
|
8943353 |
1996 |