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: 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
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C0575802
Disease: Small hand
Small hand 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
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: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C0026034
Disease: Microstomia
Microstomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
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: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
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: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487 		0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C4225188
Disease: MEIER-GORLIN SYNDROME 6
MEIER-GORLIN SYNDROME 6 		0.700 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
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
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
CUI: C4025406
Disease: Abnormality of the middle phalanx of the 5th finger
Abnormality of the middle phalanx of the 5th finger 		0.700 1.000 1 2015 2015