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: C0751878
Disease: Vasculitis, Central Nervous System
Vasculitis, Central Nervous System 		disease Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C0221289
Disease: Synovioma, benign
Synovioma, benign 		disease Neoplasms Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1260405
Disease: frontal dementia
frontal dementia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0235590
Disease: Fibrosing adenosis
Fibrosing adenosis 		disease Disease or Syndrome 4 0.010 None 1.000 1 1991 1991
CUI: C0240419
Disease: Muscle tenderness
Muscle tenderness 		phenotype Musculoskeletal Diseases Sign or Symptom 4 0.010 None 1.000 1 2016 2016
CUI: C0456860
Disease: Cutaneous/peripheral T-cell lymphoma
Cutaneous/peripheral T-cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 4 0.010 None 1.000 1 2020 2020
CUI: C0575064
Disease: Skeletal muscle tender
Skeletal muscle tender 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 4 0.010 None 1.000 1 2016 2016
CUI: C1335931
Disease: Breast Sclerosing Adenosis
Breast Sclerosing Adenosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 4 0.010 None 1.000 1 1991 1991
CUI: C2853919
Disease: Lymphoblastic B-cell lymphoma
Lymphoblastic B-cell lymphoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2015 2015
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0020453
Disease: Hyperesthesia
Hyperesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.010 None 1.000 1 2019 2019
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 1992 1992
CUI: C4721893
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 5 0.010 None 1.000 1 2017 2017
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		disease Nervous System Diseases Disease or Syndrome 9 44 0.800 None 1.000 47 44 1989 2020
CUI: C1320638
Disease: Bone marrow myeloid dysplasia
Bone marrow myeloid dysplasia 		disease Hemic and Lymphatic Diseases Neoplastic Process 9 0.010 None 1.000 1 1995 1995
CUI: C1847651
Disease: Rapidly progressive dementia
Rapidly progressive dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 9 4 0.010 None 1.000 1 2015 2015
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		disease Digestive System Diseases Disease or Syndrome 10 19 0.010 None 1.000 1 2017 2017
CUI: C0588125
Disease: Nodular tenosynovitis
Nodular tenosynovitis 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 10 0.010 None 1.000 1 2007 2007
CUI: C0162375
Disease: Granuloma, Giant Cell Reparative
Granuloma, Giant Cell Reparative 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C1318543
Disease: Fibrous histiocytoma of tendon sheath
Fibrous histiocytoma of tendon sheath 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 13 0.010 None 1.000 1 2007 2007
CUI: C0039106
Disease: Pigmented villonodular synovitis
Pigmented villonodular synovitis 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 15 0.060 None 1.000 6 2006 2018
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		disease Anatomical Abnormality 17 1 0.100 None 0 1
CUI: C0338455
Disease: Dementia of frontal lobe type
Dementia of frontal lobe type 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 20 0.100 None 0
CUI: C0398597
Disease: Histiocytic syndrome
Histiocytic syndrome 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2019 2019
CUI: C0039496
Disease: Temporomandibular Joint Dysfunction Syndrome
Temporomandibular Joint Dysfunction Syndrome 		disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 24 2 0.010 None 1.000 1 2018 2018