GMNN, geminin DNA replication inhibitor, 51053

N. diseases: 153; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864309488
rs864309488
0.776 0.440 6 24777296 missense variant A/G snv
CUI: C4225188
Disease: MEIER-GORLIN SYNDROME 6
MEIER-GORLIN SYNDROME 6
0.800 0
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
EAR, PATELLA, SHORT STATURE SYNDROME
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
Abnormality of the middle phalanx of the 5th finger
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0014390
Disease: Entropion
Entropion
Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
Atresia of the external auditory canal
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
Hypoplastic female external genitalia
0.700 1.000 1 2015 2015
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay
0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
Simple syndactyly of toes, first web space
0.700 1.000 1 2015 2015