Genes associated with “SNF8”

1136 genes foundOpen Targets: developmental and epileptic encephalopathy 11519 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

Strong Candidates

1 gene
1
SNF8 →

SNF8 subunit of ESCRT-II

22
score
GTR ↑

Developmental and epileptic encephalopathy 115

Frequency
-
P/LP Variants
19
OT Score
0.57

Consider

708 genes
17MED13
Def
15AXIN2
Def
15BPTF
Def
15COL1A1
Def
15EFTUD2
Def
15HNF1B
Def
15KANSL1
Def
15NOG
Def
15RAD51C
Def
15TBX4
Def
15TUBG1
Def

tubulin gamma 1

14SOX9
Def
14LSM12
14LUC7L3
14MAP3K3
14MBTD1
14MED1
14MEIOC
13ACE
Def
13BRCA1
DefSF
13BRIP1
Def
13CAVIN1
Def
13CD79B
Def
13DGKE
Def
13DNAAF19
Def
13G6PC1
Def
13G6PC3
Def
13GFAP
Def
13GOSR2
Def
13GPR179
Def
13GRN
Def
13ITGA2B
Def
13ITGA3
Def
13ITGB3
Def
13MKS1
Def
13NAGLU
Def
13NAGS
Def
13ODAD4
Def
13PGAP3
Def
13PNPO
Def
13PPM1D
Def
13PSMD12
Def
13RNF43
Def
13SCN4A
Def
13SGCA
Def
13SMARCE1
Def
13SMG8
Def
13SPOP
Def
13STAT3
Def
13STAT5B
Def
13TACO1
Def
13TANC2
Def
13TCAP
Def
13TLK2
Def
13TRIM37
Def
13UBTF
Def
13VPS25

VACUOLAR PROTEIN SORTING 25 HOMOLOG; VPS25

12DNAI2
Def
12FDXR
Def
12KCNJ16
Def
12PRKAR1A
Def
12USH1G
Def
12IKZF3
Mod
12MAP3K14
Mod
12PCGF2
Str
12PLEKHM1
Mod
12RGS9
Mod
11DLG4
Def
11NF1
Def
11PMP22
Def
11RAD51D
Def
11RAI1
Def
11TAOK1
Def
11TP53
DefSF
11COG1
Mod
11KCNJ2
Mod
11ACOX1
Def
11ACTG1
Def
11CANT1
Def
11CCDC40
Def
11CDC6
Lim
11COA3
Lim
11COX11
Lim
11DNAH17
Def
11DNAJC7
Lim
11FOXJ1
Def
11GAA
DefSF
11GALK1
Def
11PDE6G
Def
11PEX12
Def
11PIGW
Lim
11PYCR1
Def
11RHBDF2
Def
11RPS6KB1
Lim
11SGSH
Def
11TBCD
Def
11TMEM94
Def
11UNC13D
Def
10AARSD1
10ABCC3
10ABI3
10ACACA
10ACBD4
10ACSF2
10ADAM11
10AKAP1
10ANKFN1
10ANKRD40
10AOC2
10AOC3
10APPBP2
10ARHGAP23
10ARHGAP27
10ARHGDIA
Mod
10ARL17A
10ARL17B
10ARL4D
10ARL5C
10ASB16
10ATP5MC1
10ATP6V0A1
10ATXN7L3
10B4GALNT2
10BCAS3
10BECN1
10C17ORF47
10C17ORF58
10C17ORF67
10C17ORF78
10C1QL1
10CA10
10CA4
10CACNA1G
10CACNB1
10CACNG1
10CACNG4
10CACNG5
10CALCOCO2
10CASC3
10CBX1
10CCDC43
10CCDC47
10CCR10
10CCR7
10CD300LG
10CDC27
10CDK12
10CDK5RAP3
10CEP112
10CEP95
10CFAP97D1
10CHCT1
10CISD3
10CNTD1
10CNTNAP1
10COASY
10COPZ2
10CRHR1
10CSF3
10CSH1
10CSH2
10CSHL1
10CUEDC1
10CWC25
10CYB561
10DBF4B
10DCAF7
10DCAKD
10DDX42
10DDX5
10DDX52
10DHRS11
10DHX40
10DHX58
10DHX8
10DLX3
10DLX4
10DUSP14
10DUSP3
10DYNLL2
10DYNLL2-DT
10EFCAB13
10EFCAB3
10EIF1
10EME1
10EPN3
10ERBB2
10ERN1
10ETV4
10EXOC7
Mod
10EZH1
10FAM117A
10FAM171A2
10FBXL20
10FBXO47
10FKBP10
10FMNL1
10FTSJ3
10FZD2
10GAS2L2
Mod
10GDPD1
10GGNBP2
10GH1
10GH2
10GJC1
10GJD3
10GNA13
10GNGT2
10GPATCH8
10GRB7
10GSDMA
10GSDMB
10HAP1
10HDAC5
10HEATR6
10HEXIM1
10HEXIM2
10HIGD1B
10HOXB1
10HOXB13
10HOXB2
10HOXB3
10HOXB4
10HOXB5
10HOXB6
10HOXB7
10HOXB8
10HOXB9
10HSD17B1
10HSF5
10HSPB9
10ICAM2
10IFI35
10IGF2BP1
10IGFBP4
10INTS2
10KAT2A
10KAT7
10KCNH4
10KCNH6
10KIF18B
10KIF2B
10KLHL10
10KLHL11
10KPNA2
10KPNB1
10KRT10
10KRT12
10KRT13
10KRT14
10KRT15
10KRT16
10KRT17
10KRT19
10KRT20
10KRT222
10KRT23
10KRT24
10KRT25
10KRT26
10KRT27
10KRT28
10KRT31
10KRT32
10KRT33A
10KRT33B
10KRT34
10KRT35
10KRT36
10KRT37
10KRT38
10KRT39
10KRT40
10KRT9
10KRTAP1-1
10KRTAP1-3
10KRTAP1-4
10KRTAP1-5
10KRTAP16-1
10KRTAP17-1
10KRTAP2-1
10KRTAP2-2
10KRTAP2-3
10KRTAP2-4
10KRTAP3-1
10KRTAP3-2
10KRTAP3-3
10KRTAP4-1
10KRTAP4-11
10KRTAP4-12
10KRTAP4-2
10KRTAP4-3
10KRTAP4-4
10KRTAP4-5
10KRTAP4-6
10KRTAP4-7
10KRTAP4-8
10KRTAP4-9
10KRTAP9-1
10KRTAP9-2
10KRTAP9-3
10KRTAP9-4
10KRTAP9-6
10KRTAP9-7
10KRTAP9-8
10KRTAP9-9
10LASP1
10LHX1
10LIMD2
10LRRC37A
10LRRC37A2
10LRRC37A3
10LRRC3C
10LRRC46
10LRRC59
10MARCHF10
10MED24
10MEOX1
10METTL2A
10MIEN1
10MILR1
10MLLT6
10MPP2
10MPP3
10MRC2
10MRM1
10MRPL10
10MRPL27
10MRPL45
10MRPS23
10MSI2
10MSL1
10MTMR4
10MYCBPAP
10MYL4
10MYO19
10NACA2
10NBR1
10NBR2
10NDUFAF8
Mod
10NEUROD2
10NFE2L1
10NKIRAS2
10NME1
10NME1-NME2
10NME2
10NMT1
10NOL11
10NPEPPS
10NR1D1
10NT5C3B
10NXPH3
10OR4D1
10OR4D2
10ORMDL3
10OSBPL7
10P3H4
10PDK2
10PECAM1
10PHB1
10PHOSPHO1
10PIP4K2B
10PITPNC1
10PLCD3
10PLEKHH3
10PLXDC1
10POLG2
10PPM1E
10PPP1R1B
10PPP1R9B
10PRAC1
10PRAC2
10PRKCA
10PRR11
10PRR15L
10PRR29
10PSMB3
10PSMC3IP
10PSMC5
10PSMD3
10PSME3
10PTGES3L
10PTGES3L-AARSD1
10PTRH2
10RAB5C
10RAMP2
10RAPGEFL1
10RETREG3
10RND2
10RNFT1
10RPL19
10RPL23
10RPL27
10RPRML
10RSAD1
10RUNDC1
10RUNDC3A
10SAMD14
10SCPEP1
10SCRN2
10SEPTIN4
10SEPTIN9
Mod
10SKA2
10SKAP1
10SLC25A39
10SLC35B1
10SLC4A1
10SLFN14
Mod
10SMARCD2
10SMURF2
10SNX11
10SOCS7
10SP2
10SP6
10SPAG9
10SPATA20
10SPATA32
10SPMAP1
10SPPL2C
10SRCIN1
10SRSF1
10STAC2
10STARD3
10STAT5A
10STRADA
10STXBP4
10SUPT4H1
10SYNRG
10TAC4
10TADA2A
10TBC1D3
10TBC1D3C
10TBKBP1
10TBX2
10TBX21
10TEX14
10TEX2
10TMEM100
10TMEM101
10TMEM106A
10TMEM92
10TMUB2
10TNS4
10TOB1
10TOM1L1
10TOP2A
10TRIM25
10TRQ-TTG1-1
10TSPOAP1
10TTLL6
10TUBD1
10TUBG2
10UBE2Z
10USP32
10UTP18
10VAT1
10VEZF1
No
10VMP1
10WFIKKN2
10WIPF2
10WNK4
10WNT3
10WNT9B
10XYLT2
10YPEL2
10ZNF385C
10ZNF652
10ZNHIT3
10ZPBP2
9ACADVL
Def
9AIPL1
Def
9ASPA
Def
9B9D1
Def
9C1QBP
Def
9CHD3
Def
9CHRNB1
Def
9COX10
Def
9CTC1
Def
9CTNS
Def
9DNAH9
Def
9DPH1
Def
9ELAC2
Def
9FLCN
Def
9FOXN1
Def
9GP1BA
Def
9GUCY2D
Def
9KDM6B
Def
9LIG3
Def
9MPDU1
Def
9MYH10
Def
9MYH2
Def
9MYO15A
Def
9NEK8
Def
9PFN1
Def
9PHF12
Def
9PIGL
Def
9PIGS
Def
9POLR2A
Def
9PRPF8
Def
9SCO1
Def
9SERPINF2
Def
9TNFRSF13B
Def
9TTC19
Def
9ABCA10
9ABCA5
9ABCA6
9ABCA8
9ABCA9
9AMZ2
9ATP5PD
9BTBD17
9CD300A
9CD300C
9CD300E
9CD300LB
9CD300LD
9CD300LF
9CDC42EP4
9CDR2L
9CPSF4L
9FADS6
9FAM20A
9FLJ40194
9GPR142
9GPRC5C
9GRIN2C
9HID1
9HOXBLINC
9KCTD2
9KIF19
9MAP2K6
9MRPL58
9MTNAP1
9NAT9
9NHERF1
9OTOP2
9OTOP3
9RAB37
9RPL38
9SDK2
9SLC16A6
9SLC38A12
9SLC39A11
9SSTR2
9TTYH2
9VCF1
9WIPI1
9MRPS7
Lim
9NPTX1
Lim
9SLC25A10
Lim
9SLC25A19
Lim
9TAF15
Lim
9WBP2
Lim
8FLII
Mod
8NSRP1
Mod
8PAFAH1B1
8SLC52A1
Mod
8WRAP53
Mod
8AANAT
8AFMID
8ALYREF
8ANAPC11
8AP2B1
8ARL16
8ARMC7
8ASPSCR1
8BAHCC1
8BAIAP2
8BIRC5
8C17ORF50
8C17ORF99
8C1QTNF1
8CARD14
8CASKIN2
8CBX2
8CBX4
8CBX8
8CCDC137
8CCDC57
8CCL14
8CCL15
8CCL16
8CCL18
8CCL23
8CCL3
8CCL3L1
8CCL3L3
8CCL4
8CCL4L1
8CCL4L2
8CCL5
8CD7
8CDK3
8CENPX
8CEP131
8CHMP6
8CSNK1D
8CYBC1
8CYTH1
8DUS1L
8EIF4A3
8ENDOV
8ENGASE
8ENPP7
8FAAP100
8FBF1
8FN3K
8FN3KRP
8FNDC8
8FOXK2
8FSCN2
8GALR2
8GGA3
8GPS1
8GRB2
8H3-3B
8HEATR9
8HEXD-IT1
8ITGB4
8JMJD6
8JPT1
8LGALS3BP
8LLGL2
8LRRC45
8LYZL6
8MCRIP1
8METRNL
8METTL23
8MFSD11
8MGAT5B
8MIF4GD
8MMP28
8MRPL12
8MRPL38
8MXRA7
8MYADML2
8NFE2L1-DT
8NLE1
8NOTUM
8NPLOC4
8NT5C
8NUP85
8OGFOD3
8OXLD1
8P4HB
8PCYT2
8PGS1
8PPP1R27
8PRPSAP1
8QRICH2
8QTGAL
8RAB40B
8RAC3
8RASL10B
8RBFOX3
Dis
8RDM1
8RECQL5
8RNF157
8RNF213
8RPTOR
8SAP30BP
8SEC14L1
8SECTM1
8SIRT7
8SLC16A3
8SLC16A5
8SLC26A11
8SLC35G3
8SLC38A10
8SLFN11
8SLFN12
8SLFN12L
8SLFN13
8SLFN5
8SMIM5
8SOCS3
8SPHK1
8SRP68
8SRSF2
8ST6GALNAC1
8ST6GALNAC2
8SUMO2
8SYNGR2
8TBC1D16
8TBC1D3B
8TBC1D3F
8TBC1D3H
8TEN1
8TEPSIN
8TEX19
8TIMP2
8TK1
8TMC6
8TMC8
8TMEM105
8TMEM235
8TNRC6C
8TRIM47
8TRIM65
8TSEN54
8TSPAN10
8UBALD2
8UBE2O
8UNC45B
8USP36
8UTS2R
8WDR45B
8ZNF750

Possible

415 genes — click to expand
8CDK5R1

cyclin dependent kinase 5 regulatory subunit 1

8NTN1

netrin 1

7ATPAF2
Lim
7GRAP
Lim
7MIEF2
Lim
7RPA1
Lim
7TIMM22
Lim
7TMEM132E
Lim
7TMEM98
Lim
7TNFSF12
Lim
7TNFSF13
Lim
6ABHD15
6ACAP1
6ADAP2
6ADORA2B
6ADPRM
6AKAP1-DT
6AKAP10
6ALDH3A1
6ALDH3A2
6ALDOC
6ALKBH5
6ALOX12
6ALOX12B
6ALOX15
6ALOX15B
6ALOXE3
6ANKFY1
6ANKRD13B
6ANKRD40CL
6APPBP2-DT
6ARHGAP44
6ARHGEF15
6ARRB2
6ASGR1
6ASGR2
6ASIC2
6ATAD5
6ATP1B2
6ATP2A3
6AURKB
6BACC1
6BCL6B
6BHLHA9
6BLTP2
6BORCS6
6C17ORF100
6C17ORF107
6C17ORF113
6C17ORF75
6CAMKK1
6CAMTA2
6CCDC144A
6CCDC182
6CCDC200
6CCDC42
6CCL1
6CCL11
6CCL13
6CCL2
6CCL7
6CCL8
6CCT6B
6CD68
6CDRT15
6CDRT15L2
6CDRT4
6CENPV
6CFAP52
6CHRNE
6CLDN7
6CLEC10A
6CNTROB
6COPRS
6COPS3
6CORO6
6CRLF3
6CRYBA1
6CTDNEP1
6CXCL16
6CYB5D1
6CYB5D2
6DERL2
6DHRS13
6DHRS7B
6DHRS7C
6DHX33
6DNAH2
6DOC2B
6DRC3
6DRG2
6DVL2
6EFCAB13-DT
6EFCAB5
6EFNB3
6EIF4A1
6EIF5A
6ELP5
6EMC6
6ENO3
6EPN2
6ERAL1
6EVI2A
6EVI2B
6EVPLL
6FAM187A
6FAM215A
6FAM215B
6FAM222B
6FAM83G
6FBXO39
6FBXW10
6FBXW10B
6FGF11
6FLJ45513
6FLOT2
6FMNL1-DT
6FXR2
6GABARAP
6GAS7
6GEMIN4
6GGT6
6GH-LCR
6GID4
6GIT1
6GLOD4
6GLP2R
6GLTPD2
6GOSR1
6GOSR2-DT
6GPS2
6GRAPL
6HASPIN
6HEATR6-DT
6HES7
6HIC1
6HS3ST3A1
6HS3ST3B1
6IFT20
6IGBP1C
6INCA1
6INPP5K
6ITGAE
6KCNAB3
6KCNJ12
6KCTD11
6KIAA0753
6KIF1C
6KPNB1-DT
6KRABD2
6KRTAP29-1
6KRTAP4-16
6KSR1
6LASP1NB
6LGALS9
6LGALS9B
6LGALS9C
6LHX1-DT
6LIAT1
6LLGL1
6LRRC37B
6LRRC75A
6LYRM9
6MAP2K3
6MAP2K4
6MAPK7
6MAPT-IT1
6MARCHF10-DT
6MED11
6MED31
6MED9
6METTL16
6MFAP4
6MFSD6L
6MINK1
6MIS12
6MPRIP
6MRM3
6MTRNR2L1
6MYBBP1A
6MYH1
6MYH13
6MYH3
6MYH4
6MYH8
6MYO18A
6MYO1C
Dis
6MYO1D
6MYOCD
6NAA38
6NATD1
6NCBP3
6NCOR1
6NDEL1
6NEURL4
6NLGN2
6NLRP1
6NOS2
6NT5M
6NUFIP2
6NUP88
6ODF4
6OR1A1
6OR1A2
6OR1D2
6OR1D5
6OR1E1
6OR1E2
6OR1G1
6OR3A1
6OR3A2
6OR3A3
6OVCA2
6P2RX1
6P2RX5
6PELP1
6PER1
6PHF23
6PICART1
6PIK3R5
Dis
6PIK3R6
6PIMREG
6PIPOX
6PITPNA
6PITPNM3
6PLD2
6PLD6
6PLSCR3
6POLDIP2
6PROCA1
6PRPSAP2
6PSMB6
6PSMD11
6RAB11FIP4
6RAB34
6RABEP1
6RANGRF
Ref
6RAP1GAP2
6RASD1
6RCVRN
6RFLNB
6RHBDL3
6RHOT1
6RNASEK
6RNF112
6RNF135
6RNF167
6RNF222
6RNFT1-DT
6RNU2-1
6RPAIN
6RPH3AL
6RPL23A
6RPL26
6RTN4RL1
6SARM1
6SAT2
6SCARF1
6SCARNA20
6SCIMP
6SDF2
6SEBOX
6SENP3
6SERPINF1
6SEZ6
6SGSM2
6SHISA6
6SHMT1
6SLC13A2
6SLC13A5
6SLC16A11
6SLC16A13
6SLC25A11
6SLC25A35
6SLC2A4
6SLC35G6
6SLC43A2
6SLC46A1
6SLC47A1
6SLC47A2
6SLC5A10
6SLC6A4
Dis
6SMCR8
6SMG6
6SMIM36
6SMTNL2
6SMYD4
6SNHG25
6SNORA21
6SNORA21B
6SNORA38B
6SNORA50C
6SNORA90
6SOX15
6SP2-DT
6SPACA3
6SPAG5
6SPAG7
6SPATA22
6SPDYE4
6SPECC1
6SPEM1
6SPEM2
6SPNS2
6SPNS3
6SREBF1
6SSH2
6STX8
6SUPT6H
6SUZ12
6TAX1BP3
6TBC1D26
6TBC1D28
6TBC1D29P
6TBC1D3D
6TBC1D3E
6TBC1D3K
6TBC1D3L
6TEKT1
Dis
6TEKT3
6TILAM
6TLCD1
6TLCD2
6TLCD3A
6TM4SF5
6TMEM102
6TMEM107
6TMEM11
6TMEM132E-DT
6TMEM220
6TMEM256
6TMEM88
6TMEM95
6TMEM97
6TMIGD1
6TNFAIP1
6TNFSF12-TNFSF13
6TNK1
6TOM1L2
6TOP3A
6TP53I13
6TRAF4
6TRAPPC1
6TRARG1
6TRC-GCA14-1
6TRC-GCA2-2
6TRC-GCA2-3
6TRC-GCA2-4
6TRC-GCA4-1
6TRG-GCC2-6
6TRIM16
6TRIM16L
6TRK-TTT3-5
6TRL-TAG1-1
6TRN-GTT2-5
6TRPV1
6TRPV2
6TRPV3
6TRQ-CTG1-5
6TRR-CCG2-1
6TRR-TCT2-1
6TRSUP-TTA1-1
6TSR1
6TVP23B
6TVP23C
6TVP23C-CDRT4
6TXNDC17
6UBE2G1
6ULK2
6UNC119
6USP22
6USP43
6USP6
6UTP6
6VAMP2
6VMA12
6VMO1
6VPS53
6WDR81
6WSB1
6WSCD1
6XAF1
6YBX2
6YWHAE
6ZBTB4
6ZFP3
6ZMYND15
6ZNF18
6ZNF207
6ZNF232
6ZNF286A
6ZNF287
6ZNF594
6ZNF624
6ZNF830
6ZSWIM7
6ZZEF1
5CUL3
Def

cullin 3

5DEE115

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115; DEE115

5NEDOA

NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY; NEDOA

4CASC17
4CD300H
4MGC16275
4PRO1804
4REVSEX
4SOX9CRE1
4TRR-CCT1-1
4TRR-CCT2-1
4TRR-TCG3-1
4DCC
Def

DCC netrin 1 receptor

4AKT3
Def

AKT serine/threonine kinase 3

4MAPK8IP3
Def

mitogen-activated protein kinase 8 interacting protein 3

4TUBB2B
Def

tubulin beta 2B class IIb

3TUBB3
Def

tubulin beta 3 class III

3NFIB
Def

nuclear factor I B

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