Genes associated with “CFEOM3A2”
4 genes found
Some sources returned errors (1)
openTargets: Error: OT search: 403
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
2 genesScore
Gene
Evidence
Freq
P/LP
OT
Description
13CFEOM3A2
CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES 3A, SYNDROMIC 2, WITH JOINT CONTRACTURES, DEVELOPMENTAL DELAY, AND PERIPHERAL NEUROPATHY; CFEOM3A2
13
HPOnone
ClinVarnone
Phen2Genenone
Open Targetsnone
PanelAppnone
-
-
-
CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES 3A, SYNDROMIC 2, WITH JOINT CONTRACTURES, DEVELOPMENTAL DELAY, AND PERIPHERAL NEUROPATHY; CFEOM3A2
Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay
10
TUBB3Def
HPOnone
ClinVar20%
Phen2Genenone
Open Targetsnone
PanelAppnone
-
1
-
Congenital fibrosis of extraocular muscles 3A, syndromic 1, with anosmia and developmental delay
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.