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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
5 associated genes
No signs/symptoms info
Autosomal dominant nonsyndromic intellectual deficit
Autoimmune lymphoproliferative syndrome

CACNG2 CASP10
CDH15 FAS
CTNNB1 FASLG
DOCK8 NRAS
DYNC1H1 PRKCD
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DYNC1H1
(0.56)
PRKCD



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Autoimmune lymphoproliferative syndrome
CASP10 FAS FASLG NRAS PRKCD



Autosomal dominant nonsyndromic intellectual deficit
Autoimmune lymphoproliferative syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- ALPS
- Canale-Smith syndrome
- FAS deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
13 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D056735

No signs/symptoms info available.