Genes associated with “NEDBASH”
3 genes foundOpen Targets: intellectual developmental disorder with macrocephaly, seizures, and speech delay
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 detailsConsider
3 genesScore
Gene
Evidence
Freq
P/LP
OT
Description
20NTNG2
netrin G2
16PAK1
p21 (RAC1) activated kinase 1
13NEDBASH
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
13
HPOnone
ClinVarnone
Phen2Genenone
Open Targetsnone
PanelAppnone
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-
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NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
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.