CSF1R, colony stimulating factor 1 receptor, 1436

N. diseases: 356; N. variants: 60
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: C1306341
Disease: Mental handicap
Mental handicap
disease Mental or Behavioral Dysfunction 26 1 0.010 None 1.000 1 2017 2017
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 28 2 0.100 None 0
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 29 0.010 None 1.000 1 1992 1992
CUI: C1257965
Disease: Compensatory Hyperinsulinemia
Compensatory Hyperinsulinemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 30 2 0.010 None 1.000 1 2019 2019
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism
disease Nervous System Diseases Disease or Syndrome 30 6 0.010 None 1.000 1 2013 2013
CUI: C0239842
Disease: Tremor of hands
Tremor of hands
phenotype Sign or Symptom 31 7 0.100 None 0 1
CUI: C0019618
Disease: Histiocytosis
Histiocytosis
disease Hemic and Lymphatic Diseases Neoplastic Process 32 3 0.010 None 1.000 1 2019 2019
CUI: C1266002
Disease: Non-small cell carcinoma
Non-small cell carcinoma
disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2017 2017
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction
disease Mental or Behavioral Dysfunction 33 3 0.010 None 1.000 1 2019 2019
CUI: C0243010
Disease: Viral Encephalitis
Viral Encephalitis
group Infections; Nervous System Diseases Disease or Syndrome 35 0.020 None 1.000 2 2018 2019
Acute monocytic/monoblastic leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 35 2 0.010 None 1.000 1 1997 1997
Multiple Sclerosis, Primary Progressive
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 37 2 0.030 None 1.000 3 1 2013 2015
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 37 5 0.010 None 1.000 1 2020 2020
Neuronal loss in central nervous system
phenotype Finding 37 0.100 None 0
Adult Acute Megakaryoblastic Leukemia
disease Neoplasms Neoplastic Process 38 4 0.010 None 1.000 1 2007 2007
Refractory anemia, without ringed sideroblasts, without excess blasts
disease Hemic and Lymphatic Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 1997 1997
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive
phenotype Finding 38 0.100 None 0
Anti-Basement Membrane Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 39 0.200 None 1.000 1 2009 2009
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 40 23 0.010 None 1.000 1 2018 2018
CUI: C1695782
Disease: Cerebral hypoperfusion
Cerebral hypoperfusion
disease Disease or Syndrome 40 1 0.010 None 1.000 1 2019 2019
Myelodysplastic Syndrome with Isolated del(5q)
disease Hemic and Lymphatic Diseases Neoplastic Process 41 1 0.030 None 1.000 3 1985 1997
CUI: C1802398
Disease: Chromosome 5, trisomy 5q
Chromosome 5, trisomy 5q
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 1 0.040 None 1.000 4 1985 1997
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 43 3 0.100 None 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 45 1 0.030 None 1.000 3 1985 1997
Childhood Acute Megakaryoblastic Leukemia
disease Neoplasms Neoplastic Process 45 4 0.010 None 1.000 1 2007 2007