Genes associated with “USP41

508 genes foundOpen Targets: developmental and epileptic encephalopathy 114336 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 details

Consider

481 genes
15CHEK2
Def
15EP300
Def
15NF2
DefSF
15SHANK3
Def
15SMARCB1
Def
15SOX10
Def
15TCF20
Def
15TNRC6B
Def
13A4GALT
Def
13ACO2
Def
13ADA2
Def
13ADSL
Def
13ALG12
Def
13AP1B1
Def
13APOL1
Def
13ARSA
Def
13CDC45
Def
13CHCHD10
Def
13CSF2RB
Def
13CYB5R3
Def
13DEPDC5
Def
13GP1BB
Def
13HPS4
Def
13IFT27
Def
13LARGE1
Def
13LZTR1
DefSF
13MLC1
Def
13MN1
Def
13MORC2
Def
13MYH9
Def
13MYO18B
Def
13NAGA
Def
13NEFH
Def
13PEX26
Def
13PLA2G6
Def
13PRODH
Def
13SCO2
Def
13SLC25A1
Def
13TCN2
Def
13TIMP3
Def
13TMPRSS6
Def
13TRIOBP
Def
13TRMU
Def
13TUBGCP6
Def
13TYMP
Def
13XPNPEP3
Def
12HMOX1
Str
12IGLL1
Mod
12IL2RB
Mod
12NDUFA6
Mod
12PISD
Mod
12RAC2
Str
12RBFOX2
Str
12SBF1
Mod

ubiquitin specific peptidase 18

11CACNG2
Lim
11MCAT
Lim
11NUP50
Lim
10CPT1B
No
10CRKL
No
10EWSR1
Dis
10MPST
No
10TUBA8
Dis
10UPK3A
Dis

solute carrier family 32 member 1

Possible

26 genes — click to expand

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