Genes associated with “IDDLA”

Diagnostic yield calculator →
24 genes found
Some sources returned errors (2)

omim: Error: OMIM search: 429

omimClinSyn: Error: OMIM CS: 429

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 details

Consider

6 genes
19FOXP1
Def
13MITF
Def
8FRMD4B
8PDZRN3
8PPP4R2
8ROBO2

Possible

18 genes — click to expand
7EOGT
Def
7LMOD3
Def
7PROK2
Def
5ROBO1
Lim
4ARL6IP5
4CNTN3
4EBLN2
4EIF4E3
4FOXP1-IT1
4FRG2C
4GPR27
4GXYLT2
4SHQ1
4TAFA1
4TAFA4
4TMF1
4UBA3
4ZNF717

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.