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: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G snv
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G snv
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G 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: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G snv
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G snv
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G snv
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G snv
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G 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: rs864309488
rs864309488 		0.776 0.440 6 24777296 missense variant A/G snv
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		Musculoskeletal Diseases; Wounds and Injuries 0.700 1.000 1 2015 2015
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
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
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