abnormal cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms (Mammalian Phenotype Ontology, MP_0000358)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000358
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Genes

493 gene mutations causing the abnormal cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AATF apoptosis antagonizing transcription factor
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ACD adrenocortical dysplasia homolog (mouse)
ACP2 acid phosphatase 2, lysosomal
ADCY10 adenylate cyclase 10 (soluble)
ADGRF5 adhesion G protein-coupled receptor F5
ADGRG2 adhesion G protein-coupled receptor G2
ADGRG6 adhesion G protein-coupled receptor G6
AFG3L2 AFG3-like AAA ATPase 2
AGA aspartylglucosaminidase
AGFG1 ArfGAP with FG repeats 1
AHI1 Abelson helper integration site 1
AHR aryl hydrocarbon receptor
AK7 adenylate kinase 7
AKAP4 A kinase (PRKA) anchor protein 4
ALMS1 Alstrom syndrome protein 1
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APC adenomatous polyposis coli
APOE apolipoprotein E
ARHGAP1 Rho GTPase activating protein 1
ARL6 ADP-ribosylation factor-like 6
ARMC4 armadillo repeat containing 4
ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa
ARSB arylsulfatase B
ATAD5 ATPase family, AAA domain containing 5
ATAT1 alpha tubulin acetyltransferase 1
ATG5 autophagy related 5
ATG7 autophagy related 7
ATM ATM serine/threonine kinase
ATMIN ATM interactor
ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
AURKA aurora kinase A
AURKB aurora kinase B
B9D1 B9 protein domain 1
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BCAR1 breast cancer anti-estrogen resistance 1
BCL2L2 BCL2-like 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDKRB2 bradykinin receptor B2
BICC1 BicC family RNA binding protein 1
BIRC5 baculoviral IAP repeat containing 5
BLM Bloom syndrome, RecQ helicase-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRK1 BRICK1, SCAR/WAVE actin-nucleating complex subunit
BRWD1 bromodomain and WD repeat domain containing 1
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C2CD3 C2 calcium-dependent domain containing 3
CADM1 cell adhesion molecule 1
CAMK4 calcium/calmodulin-dependent protein kinase IV
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBY1 chibby homolog 1 (Drosophila)
CCDC40 coiled-coil domain containing 40
CD44 CD44 molecule (Indian blood group)
CDC20 cell division cycle 20
CDC25A cell division cycle 25A
CDC42 cell division cycle 42
CDCA8 cell division cycle associated 8
CDH23 cadherin-related 23
CDK1 cyclin-dependent kinase 1
CDK16 cyclin-dependent kinase 16
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDX2 caudal type homeobox 2
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CENPA centromere protein A
CENPC centromere protein C
CEP290 centrosomal protein 290kDa
CHAF1A chromatin assembly factor 1, subunit A (p150)
CHDH choline dehydrogenase
CHEK1 checkpoint kinase 1
CHEK2 checkpoint kinase 2
CHMP5 charged multivesicular body protein 5
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CLIP1 CAP-GLY domain containing linker protein 1
CLIP2 CAP-GLY domain containing linker protein 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CLUAP1 clusterin associated protein 1
CNBD2 cyclic nucleotide binding domain containing 2
CNOT7 CCR4-NOT transcription complex, subunit 7
COIL coilin
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
COL6A3 collagen, type VI, alpha 3
COL8A2 collagen, type VIII, alpha 2
COQ7 coenzyme Q7 homolog, ubiquinone (yeast)
CRB3 crumbs family member 3
CSNK2A2 casein kinase 2, alpha prime polypeptide
CST6 cystatin E/M
CTC1 CTS telomere maintenance complex component 1
CTF1 cardiotrophin 1
CTNND1 catenin (cadherin-associated protein), delta 1
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTTN cortactin
CUL4A cullin 4A
CXADR coxsackie virus and adenovirus receptor
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
DAP3 death associated protein 3
DAXX death-domain associated protein
DCLRE1A DNA cross-link repair 1A
DDIT4 DNA-damage-inducible transcript 4
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DIDO1 death inducer-obliterator 1
DKC1 dyskeratosis congenita 1, dyskerin
DLL1 delta-like 1 (Drosophila)
DMD dystrophin
DNA2 DNA replication helicase/nuclease 2
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNASE1L2 deoxyribonuclease I-like 2
DNM1L dynamin 1-like
DOT1L DOT1-like histone H3K79 methyltransferase
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DPY19L2 dpy-19-like 2 (C. elegans)
DST dystonin
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
DZIP1 DAZ interacting zinc finger protein 1
EGR4 early growth response 4
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ENO4 enolase family member 4
EPB41L5 erythrocyte membrane protein band 4.1 like 5
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC4 excision repair cross-complementation group 4
ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae)
ESR1 estrogen receptor 1
ESRRG estrogen-related receptor gamma
EWSR1 EWS RNA-binding protein 1
EXTL2 exostosin-like glycosyltransferase 2
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FGF10 fibroblast growth factor 10
FHL5 four and a half LIM domains 5
FKBP4 FK506 binding protein 4, 59kDa
FLOT2 flotillin 2
FMR1 fragile X mental retardation 1
FNTB farnesyltransferase, CAAX box, beta
FOXI1 forkhead box I1
FOXJ1 forkhead box J1
FOXN1 forkhead box N1
FSHR follicle stimulating hormone receptor
FUS FUS RNA binding protein
FUZ fuzzy planar cell polarity protein
FZR1 fizzy/cell division cycle 20 related 1 (Drosophila)
GAA glucosidase, alpha; acid
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GADD45A growth arrest and DNA-damage-inducible, alpha
GAK cyclin G associated kinase
GAN gigaxonin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GFY golgi-associated, olfactory signaling regulator
GLA galactosidase, alpha
GLIS3 GLIS family zinc finger 3
GLMP glycosylated lysosomal membrane protein
GLRX glutaredoxin (thioltransferase)
GLRX3 glutaredoxin 3
GMCL1 germ cell-less, spermatogenesis associated 1
GMNN geminin, DNA replication inhibitor
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNRHR gonadotropin-releasing hormone receptor
GOLGA3 golgin A3
GOPC golgi-associated PDZ and coiled-coil motif containing
GPX1 glutathione peroxidase 1
GPX4 glutathione peroxidase 4
GRID2 glutamate receptor, ionotropic, delta 2
GRXCR1 glutaredoxin, cysteine rich 1
GUSB glucuronidase, beta
H3F3A H3 histone, family 3A
HELLS helicase, lymphoid-specific
HERC4 HECT and RLD domain containing E3 ubiquitin protein ligase 4
HMBOX1 homeobox containing 1
HOOK1 hook microtubule-tethering protein 1
HORMAD1 HORMA domain containing 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTRA2 HtrA serine peptidase 2
HTT huntingtin
HUS1 HUS1 checkpoint homolog (S. pombe)
HYDIN HYDIN, axonemal central pair apparatus protein
IDO1 indoleamine 2,3-dioxygenase 1
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IFT57 intraflagellar transport 57
IFT88 intraflagellar transport 88
IGF1R insulin-like growth factor 1 receptor
ING2 inhibitor of growth family, member 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INS insulin
INTU inturned planar cell polarity protein
INVS inversin
ITSN1 intersectin 1 (SH3 domain protein)
KAT6A K(lysine) acetyltransferase 6A
KAT8 K(lysine) acetyltransferase 8
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KIAA0586 KIAA0586
KIF19 kinesin family member 19
KIF22 kinesin family member 22
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
KIF5B kinesin family member 5B
KRT19 keratin 19, type I
LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
LATS1 large tumor suppressor kinase 1
LATS2 large tumor suppressor kinase 2
LBR lamin B receptor
LDLR low density lipoprotein receptor
LEMD3 LEM domain containing 3
LGMN legumain
LMAN1 lectin, mannose-binding, 1
LMNA lamin A/C
LMNB1 lamin B1
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LYST lysosomal trafficking regulator
MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast)
MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast)
MAN2B1 mannosidase, alpha, class 2B, member 1
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MBD1 methyl-CpG binding domain protein 1
MBD4 methyl-CpG binding domain protein 4
MCM2 minichromosome maintenance complex component 2
MCM4 minichromosome maintenance complex component 4
MCM8 minichromosome maintenance complex component 8
MCM9 minichromosome maintenance complex component 9
MCPH1 microcephalin 1
MCU mitochondrial calcium uniporter
MECP2 methyl CpG binding protein 2
MED30 mediator complex subunit 30
MEIG1 meiosis/spermiogenesis associated 1
MFN1 mitofusin 1
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MIA3 melanoma inhibitory activity family, member 3
MKKS McKusick-Kaufman syndrome
MKL1 megakaryoblastic leukemia (translocation) 1
MKS1 Meckel syndrome, type 1
MNS1 meiosis-specific nuclear structural 1
MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
MPV17 MpV17 mitochondrial inner membrane protein
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTERF2 mitochondrial transcription termination factor 2
MTSS1 metastasis suppressor 1
MTUS1 microtubule associated tumor suppressor 1
MUC2 mucin 2, oligomeric mucus/gel-forming
MYH9 myosin, heavy chain 9, non-muscle
MYO6 myosin VI
NAGLU N-acetylglucosaminidase, alpha
NCKIPSD NCK interacting protein with SH3 domain
NCOA3 nuclear receptor coactivator 3
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NEAT1 nuclear paraspeckle assembly transcript 1 (non-protein coding)
NEK7 NIMA-related kinase 7
NEU1 sialidase 1 (lysosomal sialidase)
NEURL1 neuralized E3 ubiquitin protein ligase 1
NIT1 nitrilase 1
NME5 NME/NM23 family member 5
NOA1 nitric oxide associated 1
NOC3L nucleolar complex associated 3 homolog (S. cerevisiae)
NOTO notochord homeobox
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NRF1 nuclear respiratory factor 1
NSUN7 NOP2/Sun domain family, member 7
NUP210L nucleoporin 210kDa-like
OAZ3 ornithine decarboxylase antizyme 3
OCA2 oculocutaneous albinism II
ODF1 outer dense fiber of sperm tails 1
ODF2 outer dense fiber of sperm tails 2
OMA1 OMA1 zinc metallopeptidase
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
P4HA1 prolyl 4-hydroxylase, alpha polypeptide I
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDS5B PDS5 cohesin associated factor B
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PDZD7 PDZ domain containing 7
PELO pelota homolog (Drosophila)
PEX11A peroxisomal biogenesis factor 11 alpha
PEX11B peroxisomal biogenesis factor 11 beta
PEX13 peroxisomal biogenesis factor 13
PGGT1B protein geranylgeranyltransferase type I, beta subunit
PHB2 prohibitin 2
PICK1 protein interacting with PRKCA 1
PIF1 PIF1 5'-to-3' DNA helicase
PIFO primary cilia formation
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3
PIKFYVE phosphoinositide kinase, FYVE finger containing
PINK1 PTEN induced putative kinase 1
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1
PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha
PISD phosphatidylserine decarboxylase
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLA2G15 phospholipase A2, group XV
PLA2G3 phospholipase A2, group III
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLD6 phospholipase D family, member 6
PLEC plectin
PLEKHA5 pleckstrin homology domain containing, family A member 5
PLK1 polo-like kinase 1
PLK3 polo-like kinase 3
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POLR1B polymerase (RNA) I polypeptide B, 128kDa
POT1 protection of telomeres 1
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PPP4C protein phosphatase 4, catalytic subunit
PPP5C protein phosphatase 5, catalytic subunit
PPT2 palmitoyl-protein thioesterase 2
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCI protein kinase C, iota
PRKG1 protein kinase, cGMP-dependent, type I
PRND prion protein 2 (dublet)
PRSS21 protease, serine, 21 (testisin)
PTCD2 pentatricopeptide repeat domain 2
PTK2 protein tyrosine kinase 2
PTK7 protein tyrosine kinase 7 (inactive)
PTPMT1 protein tyrosine phosphatase, mitochondrial 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTRF polymerase I and transcript release factor
PVALB parvalbumin
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B)
QKI QKI, KH domain containing, RNA binding
RAB8A RAB8A, member RAS oncogene family
RABL2A RAB, member of RAS oncogene family-like 2A
RAD21L1 RAD21-like 1 (S. pombe)
RAD54L RAD54-like (S. cerevisiae)
RAE1 ribonucleic acid export 1
RASL10B RAS-like, family 10, member B
RB1 retinoblastoma 1
RB1CC1 RB1-inducible coiled-coil 1
RBM19 RNA binding motif protein 19
RECQL RecQ helicase-like
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RGPD1 RANBP2-like and GRIP domain containing 1
RHOC ras homolog family member C
RIMBP3 RIMS binding protein 3
RNASEH1 ribonuclease H1
RNASEH2B ribonuclease H2, subunit B
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RPL38 ribosomal protein L38
RPS6 ribosomal protein S6
RTEL1 regulator of telomere elongation helicase 1
RXRB retinoid X receptor, beta
SDCCAG8 serologically defined colon cancer antigen 8
SDPR serum deprivation response
SEPP1 selenoprotein P, plasma, 1
SEPT12 septin 12
SEPT4 septin 4
SESN2 sestrin 2
SETDB1 SET domain, bifurcated 1
SGOL1 shugoshin-like 1 (S. pombe)
SGSH N-sulfoglucosamine sulfohydrolase
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SIRT1 sirtuin 1
SIRT2 sirtuin 2
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC26A8 solute carrier family 26 (anion exchanger), member 8
SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLIRP SRA stem-loop interacting RNA binding protein
SLX4 SLX4 structure-specific endonuclease subunit
SMAD1 SMAD family member 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNPH syntaphilin
SORT1 sortilin 1
SPACA1 sperm acrosome associated 1
SPAG16 sperm associated antigen 16
SPAG6 sperm associated antigen 6
SPEF2 sperm flagellar 2
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPI1 Spi-1 proto-oncogene
SPINK2 serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)
STAG1 stromal antigen 1
STXBP2 syntaxin binding protein 2
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUDS3 suppressor of defective silencing 3 homolog (S. cerevisiae)
SULF1 sulfatase 1
SULF2 sulfatase 2
SUMO1 small ubiquitin-like modifier 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa
TALDO1 transaldolase 1
TBC1D20 TBC1 domain family, member 20
TBX6 T-box 6
TCTE3 t-complex-associated-testis-expressed 3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TDP2 tyrosyl-DNA phosphodiesterase 2
TDRD6 tudor domain containing 6
TEKT2 tektin 2 (testicular)
TEKT3 tektin 3
TEKT4 tektin 4
TERC telomerase RNA component
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TERF2IP telomeric repeat binding factor 2, interacting protein
TERT telomerase reverse transcriptase
TFAM transcription factor A, mitochondrial
TGFBI transforming growth factor, beta-induced, 68kDa
THEG theg spermatid protein
THEM5 thioesterase superfamily member 5
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TJP2 tight junction protein 2
TK2 thymidine kinase 2, mitochondrial
TLR2 toll-like receptor 2
TMED10 transmembrane emp24-like trafficking protein 10 (yeast)
TMEM107 transmembrane protein 107
TMEM127 transmembrane protein 127
TMEM67 transmembrane protein 67
TMF1 TATA element modulatory factor 1
TMPRSS3 transmembrane protease, serine 3
TNP1 transition protein 1 (during histone to protamine replacement)
TNP2 transition protein 2 (during histone to protamine replacement)
TOP1MT topoisomerase (DNA) I, mitochondrial
TOP3B topoisomerase (DNA) III beta
TOR1A torsin family 1, member A (torsin A)
TOR1AIP1 torsin A interacting protein 1
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TP63 tumor protein p63
TP73 tumor protein p73
TPGS1 tubulin polyglutamylase complex subunit 1
TPP1 tripeptidyl peptidase I
TPX2 TPX2, microtubule-associated
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
TRIM24 tripartite motif containing 24
TRIP11 thyroid hormone receptor interactor 11
TTBK2 tau tubulin kinase 2
TTLL1 tubulin tyrosine ligase-like family member 1
TTLL5 tubulin tyrosine ligase-like family member 5
TTYH1 tweety family member 1
TYK2 tyrosine kinase 2
TYR tyrosinase
UBE2B ubiquitin-conjugating enzyme E2B
UGCG UDP-glucose ceramide glucosyltransferase
ULK1 unc-51 like autophagy activating kinase 1
ULK4 unc-51 like kinase 4
UMOD uromodulin
USE1 unconventional SNARE in the ER 1 homolog (S. cerevisiae)
USH1G Usher syndrome 1G (autosomal recessive)
USO1 USO1 vesicle transport factor
USP10 ubiquitin specific peptidase 10
USP44 ubiquitin specific peptidase 44
VAC14 Vac14 homolog (S. cerevisiae)
VCP valosin containing protein
VDAC3 voltage-dependent anion channel 3
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIM vimentin
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WWTR1 WW domain containing transcription regulator 1
YBX1 Y box binding protein 1
ZFP42 ZFP42 zinc finger protein
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24
ZPBP zona pellucida binding protein
ZPR1 ZPR1 zinc finger
ZYX zyxin