Genes associated with “MPPH1”
11 genes foundOpen Targets: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 113 ClinVar P/LP variants
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for detailsStrong Candidates
1 geneConsider
4 genesScore
Gene
Evidence
Freq
P/LP
OT
Description
cyclin D2
AKT serine/threonine kinase 3
14
AKT3Def
HPOnone
ClinVarnone
Phen2Genenone
Open Targets46%
PanelAppnone
-
-
0.46
AKT serine/threonine kinase 3
13MPPH1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1
13
HPOnone
ClinVarnone
Phen2Genenone
Open Targetsnone
PanelAppnone
-
-
-
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1
Possible
2 genes — click to expand
Score
Gene
Evidence
Freq
P/LP
OT
Description
transforming growth factor beta receptor 1
5
HPOnone
ClinVarnone
Phen2Genenone
Open Targets3%
PanelAppnone
-
-
0.03
transforming growth factor beta receptor 1
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.