FANCE, FA complementation group E, 2178

N. diseases: 144; N. variants: 4
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: C3160739
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP E 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 3 0.710 None 1.000 7 3 1995 2015
CUI: C0339637
Disease: Consecutive exotropia
Consecutive exotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0155336
Disease: Esotropia with accommodative compensation
Esotropia with accommodative compensation 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2019 2019
CUI: C4025639
Disease: Prolonged G2 phase of cell cycle
Prolonged G2 phase of cell cycle 		phenotype Cell or Molecular Dysfunction 4 0.100 None 0
CUI: C4025640
Disease: Deficient excision of UV-induced pyrimidine dimers in DNA
Deficient excision of UV-induced pyrimidine dimers in DNA 		phenotype Finding 4 0.100 None 0
CUI: C3554724
Disease: Complete duplication of thumb phalanx
Complete duplication of thumb phalanx 		phenotype Finding 8 1 0.100 None 0
CUI: C4021737
Disease: Chromosomal breakage induced by crosslinking agents
Chromosomal breakage induced by crosslinking agents 		phenotype Pathological Conditions, Signs and Symptoms Finding 8 0.100 None 0
CUI: C4025811
Disease: Anemic pallor
Anemic pallor 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.100 None 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia 		phenotype Finding 17 0.100 None 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system 		disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C0241391
Disease: Thumb absent
Thumb absent 		phenotype Finding 21 0.100 None 0
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease Musculoskeletal Diseases Congenital Abnormality 22 0.100 None 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 24 0.100 None 0
CUI: C0342526
Disease: Absent testes
Absent testes 		phenotype Finding 24 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius 		disease Congenital Abnormality 24 1 0.100 None 0
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 29 1 0.100 None 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		disease Anatomical Abnormality 29 1 0.100 None 0
CUI: C0151785
Disease: Disease of mucous membrane
Disease of mucous membrane 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 30 0.010 None 1.000 1 2019 2019
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		phenotype Male Urogenital Diseases Finding 30 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		disease Anatomical Abnormality 32 0.100 None 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		disease Anatomical Abnormality 33 1 0.100 None 0