CENPF, centromere protein F, 1063

N. diseases: 76; N. variants: 10
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: C1855705
Disease: Jejunal Atresia with Microcephaly and Ocular Anomalies
Jejunal Atresia with Microcephaly and Ocular Anomalies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 9 0.720 None 1.000 4 9 2015 2020
CUI: C0266175
Disease: Jejunal Atresia
Jejunal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 3 2 0.100 None 0
CUI: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia 		disease Congenital Abnormality 8 0.100 None 0
CUI: C1857479
Disease: Short columella
Short columella 		phenotype Finding 20 5 0.100 None 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		phenotype Finding 20 1 0.100 None 0
CUI: C0595939
Disease: Stillbirth
Stillbirth 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 23 2 0.100 None 0
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 12 0.100 None 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 39 2 0.100 None 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		disease Eye Diseases Disease or Syndrome 42 3 0.100 None 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 56 3 0.300 strong 1.000 1 2015 2015
CUI: C1853195
Disease: Prostate Cancer, Hereditary, 7
Prostate Cancer, Hereditary, 7 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 59 11 0.010 None 1.000 1 2018 2018
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.100 None 0
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		disease Neoplasms Neoplastic Process 65 0.010 None 1.000 1 2005 2005
CUI: C1334953
Disease: Neuroblastic tumors
Neuroblastic tumors 		disease Neoplasms Neoplastic Process 73 2 0.010 None 1.000 1 2008 2008
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 77 5 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 100 26 0.100 None 0
CUI: C0266544
Disease: Microcornea
Microcornea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.100 None 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 148 11 0.100 None 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.100 None 0
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma 		disease Neoplasms Neoplastic Process 153 6 0.010 None 1.000 1 2005 2005
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 179 13 0.010 None 1.000 1 2005 2005
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 180 8 0.100 None 0
CUI: C0026277
Disease: Mixed Salivary Gland Tumor
Mixed Salivary Gland Tumor 		disease Neoplasms Neoplastic Process 185 3 0.010 None 1.000 1 2005 2005