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: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.700 None 1.000 28 11 2003 2020
FANCONI ANEMIA, COMPLEMENTATION GROUP L
disease Disease or Syndrome 2 4 0.610 None 1.000 10 4 2003 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.400 strong 1.000 1 2017 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.310 strong 1.000 2 1999 2017
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.300 strong 1.000 1 2017 2017
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype Finding 34 0.300 strong 1.000 1 2003 2003
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.300 strong 1.000 1 2017 2017
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.300 strong 1.000 1 2017 2017
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.300 strong 1.000 1 2017 2017
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.300 strong 0
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 11 0.200 None 0
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.100 None 1.000 19 1 2003 2020
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C0376705
Disease: Viral Load result
Viral Load result
phenotype Finding 65 91 0.100 None 1.000 1 1 2019 2019
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
disease Finding 149 527 0.100 None 1.000 1 1 2019 2019
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype Finding 45 0.100 None 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Skin and Connective Tissue Diseases Finding 123 2 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: C0342526
Disease: Absent testes
Absent testes
phenotype Finding 24 0.100 None 0
Pyridoxine-responsive sideroblastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 24 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0