Previous symbols: PRKMK1. Aliases: MEK1, MAPKK1, MKK1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Cardiofaciocutaneous Syndrome | causative |
mechanism: MEK1 and MEK2 Kinase Hyperactivation
subtype: CFC3
scoped to subtype: CFC3
|
| Langerhans Cell Histiocytosis | somatic driver somatic | |
| Melorheostosis | causative somatic |
mechanism: Post-zygotic Somatic Mutation in Skeletal Tissue
|
| Rosai-Dorfman Disease | somatic driver somatic | |
| Noonan Syndrome |
untyped
Pathogenic Variants
|
mechanism: Additional RAS-MAPK Signal-Amplifying Variants
|
| Noonan Syndrome with Multiple Lentigines |
untyped
Pathogenic Variants
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Noonan syndrome with multiple lentigines MONDO:0007893 | AD | Limited 2018-05-29 |
Noonan Syndrome
untyped
|
| Costello syndrome MONDO:0009026 | AD | Disputed 2018-07-24 |
Costello Syndrome
not named
|
| cardiofaciocutaneous syndrome MONDO:0015280 | AD | Definitive 2018-05-29 |
Cardiofaciocutaneous Syndrome
causative
|
| Noonan syndrome MONDO:0018997 | AD | Limited 2018-07-24 |
Noonan Syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.