GMNN, geminin DNA replication inhibitor, 51053

N. diseases: 153; N. variants: 3
Disease: EAR, PATELLA, SHORT STATURE SYNDROME ×
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: 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: 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: 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