Genes associated with “SNORA92

499 genes found7 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

252 genes
15SOX10
Def
14TNRC6B
Def
13EP300
Def
13PLA2G6
Def
13SHANK3
Def
13TCF20
Def
13TRIOBP
Def
12ADSL
Def
12TMPRSS6
Def
12XPNPEP3
Def
11CHEK2
Def
11NF2
DefSF
11SMARCB1
Def
11IL2RB
Mod
11RAC2
Str
11A4GALT
Def
11ACO2
Def
11ALG12
Def
11APOL1
Def
11ARSA
Def
11CSF2RB
Def
11CYB5R3
Def
11IFT27
Def
11MLC1
Def
11MYH9
Def
11NAGA
Def
11SCO2
Def
11TRMU
Def
11TUBGCP6
Def
11TYMP
Def
10HMOX1
Str
10NDUFA6
Mod
10RBFOX2
Str
10SBF1
Mod
9ADA2
Def
9AP1B1
Def
9CDC45
Def
9DEPDC5
Def
9GP1BB
Def
9HPS4
Def
9LARGE1
Def
9LZTR1
DefSF
9MN1
Def
9MORC2
Def
9MYO18B
Def
9NEFH
Def
9PEX26
Def
9PRODH
Def
9TCN2
Def
9TIMP3
Def
9CACNG2
Lim
9MCAT
Lim
9NUP50
Lim
8IGLL1
Mod
8PISD
Mod
8CPT1B
No
8MPST
No
8UPK3A
Dis

Possible

247 genes — click to expand
6CRKL
No
6EWSR1
Dis
6TUBA8
Dis

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