GMNN, geminin DNA replication inhibitor, 51053

N. diseases: 153; N. variants: 3
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		disease Disease or Syndrome 25 4 0.100 None 1.000 1 2 2015 2015
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 1.000 1 1 2015 2015
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 1.000 1 1 2015 2015
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 1.000 1 2 2015 2015
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 1.000 1 1 2015 2015
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype Finding 30 5 0.100 None 1.000 1 3 2015 2015
CUI: C0014390
Disease: Entropion
Entropion 		disease Eye Diseases Disease or Syndrome 18 1 0.100 None 1.000 1 1 2015 2015
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.100 None 1.000 1 1 2015 2015
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.100 None 1.000 1 1 2015 2015
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype Finding 36 13 0.100 None 1.000 1 2 2015 2015
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 27 17 0.100 None 1.000 1 1 2015 2015
CUI: C4022715
Disease: Hypoplastic female external genitalia
Hypoplastic female external genitalia 		disease Anatomical Abnormality 3 1 0.100 None 1.000 1 1 2015 2015
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		phenotype Finding 12 9 0.100 None 1.000 1 2 2015 2015
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.100 None 1.000 1 1 2015 2015
CUI: C4025406
Disease: Abnormality of the middle phalanx of the 5th finger
Abnormality of the middle phalanx of the 5th finger 		phenotype Anatomical Abnormality 1 1 0.100 None 1.000 1 1 2015 2015
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		disease Anatomical Abnormality 44 3 0.100 None 1.000 1 1 2015 2015
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 1.000 1 2 2015 2015
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		phenotype Finding 11 4 0.100 None 1.000 1 1 2015 2015
CUI: C0026034
Disease: Microstomia
Microstomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 1.000 1 1 2015 2015
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 3 0.100 None 1.000 1 3 2015 2015
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		phenotype Congenital Abnormality 19 2 0.100 None 1.000 1 1 2015 2015
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0