GMNN, geminin DNA replication inhibitor, 51053

N. diseases: 153; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309488
rs864309488
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4225188
Disease:
MEIER-GORLIN SYNDROME 6
0.800 GeneticVariation UNIPROT
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0423112
Disease:
Short palpebral fissure
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0152423
Disease:
Congenital small ears
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0575802
Disease:
Small hand
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1868578
Disease:
Patellar aplasia
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1868684
Disease:
EAR, PATELLA, SHORT STATURE SYNDROME
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0221354
Disease:
Frontal bossing
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C2315100
Disease:
Pediatric failure to thrive
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1858539
Disease:
Shawl scrotum
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1859455
Disease:
Small anterior fontanelle
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4012968
Disease:
Mild global developmental delay
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0025990
Disease:
Micrognathism
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0432040
Disease:
Simple syndactyly of toes, first web space
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0541764
Disease:
Delayed bone age
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1857641
Disease:
Severe postnatal growth retardation
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1386048
Disease:
Intrauterine retardation
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0026034
Disease:
Microstomia
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1853738
Disease:
Long eyelashes
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0395837
Disease:
Stenosis of external auditory canal
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1836543
Disease:
Thick vermilion border
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309487
rs864309487
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4225188
Disease:
MEIER-GORLIN SYNDROME 6
A 0.700 CausalMutation CLINVAR
dbSNP: rs864309488
rs864309488
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C4225188
Disease:
MEIER-GORLIN SYNDROME 6
G 0.800 CausalMutation CLINVAR
dbSNP: rs864309488
rs864309488
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1868578
Disease:
Patellar aplasia
G 0.700 GeneticVariation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309488
rs864309488
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1836542
Disease:
Depressed nasal bridge
G 0.700 GeneticVariation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
dbSNP: rs864309488
rs864309488
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1857641
Disease:
Severe postnatal growth retardation
G 0.700 GeneticVariation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015