Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.460 strong 1.000 0 0 2006 2019
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
Diffuse demyelination of the cerebral white matter
disease 0.100 None 0 0
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C1859896
Disease: Progressive macrocephaly
Progressive macrocephaly
phenotype 0.100 None 0 0
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C1856507
Disease: Bulbar signs
Bulbar signs
phenotype 0.100 None 0 0
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein
phenotype 0.100 None 0 0
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype 0.100 None 0 0
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype 0.100 None 0 0