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Disease

Megalencephaly-capillary malformation-polymicrogyria syndrome

Also known as MCAP, MCM, MCMTC, Megalencephaly-Capillary Malformation+13 more

MCAP, MCM, MCMTC, Megalencephaly-Capillary Malformation, macrocephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita syndrome, megalencephaly-capillary malformation syndrome, megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, megalencephaly-cutis marmorata telangiectatica congenita syndrome, M-CM, M-CMTC, macrocephaly cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, macrocephaly-cutis marmorata telangiectatica congenita, megalencephaly cutis marmorata telangiectatica congenita, megalencephaly-cutis marmorata telangiectatica congenita, megalocephaly cutis marmorata telangiectatica congenita.

1
Associated genes
1
Related proteins

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Associated genes

1 match

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

PIK3CA0.85

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoformvia PIK3CA0.85

Reference

Authoritative identity, definition & identifiers.

Synonyms

MCAP, MCM, MCMTC, Megalencephaly-Capillary Malformation, macrocephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita syndrome, megalencephaly-capillary malformation syndrome, megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, megalencephaly-cutis marmorata telangiectatica congenita syndrome, M-CM, M-CMTC, macrocephaly cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, macrocephaly-cutis marmorata telangiectatica congenita, megalencephaly cutis marmorata telangiectatica congenita, megalencephaly-cutis marmorata telangiectatica congenita, megalocephaly cutis marmorata telangiectatica congenita

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.