FANCL, FA complementation group L, 55120

N. diseases: 137; N. variants: 16
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: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		disease Anatomical Abnormality 29 1 0.100 None 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		disease Anatomical Abnormality 32 0.100 None 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		disease Anatomical Abnormality 40 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: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		phenotype Cell or Molecular Dysfunction 34 1 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: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 strong 1.000 1 2003 2003
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		disease Anatomical Abnormality 70 0.100 None 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		phenotype Finding 75 8 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: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C0342526
Disease: Absent testes
Absent testes 		phenotype Finding 24 0.100 None 0
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 2008 2008
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.030 None 1.000 3 1990 2015
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.300 strong 1.000 1 2017 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.020 None 1.000 2 1990 2015
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		phenotype Finding 40 1 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
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
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		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: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype Finding 45 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