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Autosomal dominant Charcot-Marie-Tooth disease type 2A1
1 OMIM reference -
1 associated gene
29 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Early-onset autosomal dominant Alzheimer disease
Familial pancreatic carcinoma
Familial prostate cancer
Glycogen storage disease due to phosphoglucomutase deficiency
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
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
Hereditary site-specific ovarian cancer syndrome
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Miller-Dieker syndrome
PGM-CDG
Papillary or follicular thyroid carcinoma
Primary peritoneal carcinoma
Catecholaminergic polymorphic ventricular tachycardia
Romano-Ward syndrome
X-linked non-syndromic intellectual deficit
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Young adult-onset Parkinsonism
Synonym(s):
- CMT2A1
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KIF1B O60333605995
No signs/symptoms info available.