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: C4225188
Disease: MEIER-GORLIN SYNDROME 6
MEIER-GORLIN SYNDROME 6 		disease Disease or Syndrome 1 3 0.600 None 1.000 2 3 2015 2019
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: 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: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		disease Congenital Abnormality 5 3 0.100 None 1.000 1 1 2015 2015
CUI: C3697776
Disease: Proliferative verrucous oral leukoplakia
Proliferative verrucous oral leukoplakia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases Neoplastic Process 6 0.010 None 1.000 1 2013 2013
CUI: C4021174
Disease: Microtia, third degree
Microtia, third degree 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Anatomical Abnormality 10 0.100 None 0
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		phenotype Finding 11 4 0.100 None 1.000 1 1 2015 2015
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 11 0.100 None 0
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: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		phenotype Finding 14 4 0.100 None 1.000 1 1 2015 2015
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		disease Congenital Abnormality 14 0.100 None 0
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 15 6 0.020 None 1.000 2 2015 2017
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 15 0.100 None 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality 17 2 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: C0014390
Disease: Entropion
Entropion 		disease Eye Diseases Disease or Syndrome 18 1 0.100 None 1.000 1 1 2015 2015
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		phenotype Congenital Abnormality 19 2 0.100 None 1.000 1 1 2015 2015
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		phenotype Congenital Abnormality 19 0.100 None 0
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		phenotype Finding 20 2 0.100 None 0
CUI: C4021985
Disease: Germ cell neoplasia
Germ cell neoplasia 		disease Neoplastic Process 22 0.010 None 1.000 1 2017 2017
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality 25 9 0.310 strong 1.000 1 2015 2015
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: 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: C0948187
Disease: Tracheomalacia
Tracheomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 30 5 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