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Alexander disease type I
1 associated gene
41 connected diseases
No signs/symptoms info
Disease Type of connection
Alexander disease type II
Early-onset autosomal dominant Alzheimer disease
Familial isolated dilated cardiomyopathy
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Multiple endocrine neoplasia type 1
Zollinger-Ellison syndrome
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Congenital analbuminemia
Huntington disease
Juvenile Huntington disease
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Chronic mucocutaneous candidiasis
Combined immunodeficiency due to STK4 deficiency
Dedifferentiated liposarcoma
Familial melanoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Inherited acute myeloid leukemia
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Pontocerebellar hypoplasia type 1
Pulverulent cataract
Susceptibility to viral and mycobacterial infections
Well-differentiated liposarcoma
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Spinocerebellar ataxia type 14
Zonular cataract
Synonym(s):
- AxD type I
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
GFAP P14136137780
No signs/symptoms info available.