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: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.100 None 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		disease Musculoskeletal Diseases Congenital Abnormality 49 3 0.100 None 0
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia 		phenotype Finding 17 0.100 None 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system 		disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 55 2 0.100 None 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 50 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: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		disease Anatomical Abnormality 52 0.100 None 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		phenotype Finding 40 1 0.100 None 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		disease Anatomical Abnormality 32 0.100 None 0
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