GFAP, glial fibrillary acidic protein, 2670

N. diseases: 447; N. variants: 99
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: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0 1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype Finding 64 116 0.100 None 0 1
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.100 None 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein
phenotype Finding 26 1 0.100 None 0
Diffuse demyelination of the cerebral white matter
disease Anatomical Abnormality 2 0.100 None 0
CUI: C1859896
Disease: Progressive macrocephaly
Progressive macrocephaly
phenotype Finding 5 0.100 None 0
CUI: C1856507
Disease: Bulbar signs
Bulbar signs
phenotype Finding 33 1 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 1991 1991
CUI: C0023531
Disease: Leukoplakia
Leukoplakia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 102 8 0.010 None 1.000 1 1991 1991
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.010 None 1.000 1 1992 1992
CUI: C1511789
Disease: Desmoplastic
Desmoplastic
disease Disease or Syndrome 117 4 0.010 None 1.000 1 1992 1992
CUI: C0917813
Disease: Spina Bifida, Open
Spina Bifida, Open
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 5 0.300 None 1.000 1 1993 1993
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 21 5 0.300 None 1.000 1 1993 1993
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 1992 1994
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 1992 1994
Cerebral Amyloid Angiopathy, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 19 4 0.010 None 1.000 1 1994 1994
Familial Cerebral Amyloid Angiopathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 0.010 None 1.000 1 1994 1994
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 30 33 0.010 None 1.000 1 1994 1994
Leukoencephalopathy, Progressive Multifocal
disease Infections; Nervous System Diseases Disease or Syndrome 240 4 0.010 None 1.000 1 1994 1994
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 1995 1995
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 1995 1995