abnormality of oral mucosa Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the oral mucosa. (Human Phenotype Ontology, HP_0011830)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011830
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Genes

142 genes associated with the abnormality of oral mucosa phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACVRL1 activin A receptor type II-like 1
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AGA aspartylglucosaminidase
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALMS1 Alstrom syndrome protein 1
ANTXR2 anthrax toxin receptor 2
AP3B1 adaptor-related protein complex 3, beta 1 subunit
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CAT catalase
CCBE1 collagen and calcium binding EGF domains 1
CD40LG CD40 ligand
CD96 CD96 molecule
CLIP2 CAP-GLY domain containing linker protein 2
COL17A1 collagen, type XVII, alpha 1
COL3A1 collagen, type III, alpha 1
COX1
COX2
COX3
CTC1 CTS telomere maintenance complex component 1
CTSC cathepsin C
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DCLRE1C DNA cross-link repair 1C
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
ELANE elastase, neutrophil expressed
ELN elastin
ENG endoglin
F10 coagulation factor X
F2 coagulation factor II (thrombin)
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FAT4 FAT atypical cadherin 4
FERMT1 fermitin family member 1
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FGG fibrinogen gamma chain
GBA glucosidase, beta, acid
GJB2 gap junction protein, beta 2, 26kDa
GLB1 galactosidase, beta 1
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HPS1 Hermansky-Pudlak syndrome 1
IDUA iduronidase, alpha-L-
IL1RN interleukin 1 receptor antagonist
INSR insulin receptor
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
ITK IL2-inducible T-cell kinase
JAK2 Janus kinase 2
KLLN killin, p53-regulated DNA replication inhibitor
KRT16 keratin 16, type I
KRT4 keratin 4, type II
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LBR lamin B receptor
LIMK1 LIM domain kinase 1
LMBRD1 LMBR1 domain containing 1
LYST lysosomal trafficking regulator
MAN2B1 mannosidase, alpha, class 2B, member 1
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MPL MPL proto-oncogene, thrombopoietin receptor
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MYD88 myeloid differentiation primary response 88
NAGA N-acetylgalactosaminidase, alpha-
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NOTCH3 notch 3
OCRL oculocerebrorenal syndrome of Lowe
ORAI1 ORAI calcium release-activated calcium modulator 1
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLG plasminogen
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTEN phosphatase and tensin homolog
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
SAMD9 sterile alpha motif domain containing 9
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SH3PXD2B SH3 and PX domains 2B
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SOS1 son of sevenless homolog 1 (Drosophila)
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK11 serine/threonine kinase 11
TBL2 transducin (beta)-like 2
TERC telomerase RNA component
TET2 tet methylcytosine dioxygenase 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMCO1 transmembrane and coiled-coil domains 1
TNXB tenascin XB
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UBB ubiquitin B
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
WNT5A wingless-type MMTV integration site family, member 5A