FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
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: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 1998 1998
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality 80 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: 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: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system
disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve
disease Anatomical Abnormality 50 2 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes
disease Anatomical Abnormality 30 0.100 None 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney
disease Anatomical Abnormality 40 0.100 None 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology
disease Anatomical Abnormality 33 1 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: 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: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology
disease Anatomical Abnormality 29 1 0.100 None 0
Abnormality of the hypothalamus-pituitary axis
disease Anatomical Abnormality 70 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: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability
phenotype Cell or Molecular Dysfunction 34 1 0.100 None 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 0.500 2 2005 2011
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 53 6 0.010 None 1.000 1 2018 2018
Congenital absence of germinal epithelium of testes
disease Male Urogenital Diseases Congenital Abnormality 82 6 0.010 None 1.000 1 2019 2019
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.100 None 0