Genes associated with “VEODS”
41 genes foundOpen Targets: X-linked intellectual disability, van Esch type12 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
1 genePossible
6 genes — click to expand
Score
Gene
Evidence
Freq
P/LP
OT
Description
5ESR1
estrogen receptor 1
aminopeptidase puromycin sensitive
5
HPOnone
ClinVarnone
Phen2Genenone
Open Targets4%
PanelAppnone
-
-
0.04
aminopeptidase puromycin sensitive
high mobility group AT-hook 2
4
HMGA2Def
HPOnone
ClinVarnone
Phen2Genenone
Open Targets5%
PanelAppnone
-
-
0.05
high mobility group AT-hook 2
ALK receptor tyrosine kinase
wolframin ER transmembrane glycoprotein
4
WFS1Def
HPOnone
ClinVarnone
Phen2Genenone
Open Targets4%
PanelAppnone
-
-
0.04
wolframin ER transmembrane glycoprotein
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.