abnormality of mouth size Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011337
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Genes

173 genes associated with the abnormality of mouth size phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTSL2 ADAMTS-like 2
ADSL adenylosuccinate lyase
AGA aspartylglucosaminidase
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ANKRD11 ankyrin repeat domain 11
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP10A ATPase, class V, type 10A
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BMP2 bone morphogenetic protein 2
CAMTA1 calmodulin binding transcription activator 1
CANT1 calcium activated nucleotidase 1
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCND2 cyclin D2
CD96 CD96 molecule
CDC6 cell division cycle 6
CDKL5 cyclin-dependent kinase-like 5
CDT1 chromatin licensing and DNA replication factor 1
CHD7 chromodomain helicase DNA binding protein 7
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCF1 cardiotrophin-like cytokine factor 1
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL7A1 collagen, type VII, alpha 1
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CYFIP1 cytoplasmic FMR1 interacting protein 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DOK7 docking protein 7
EIF4A3 eukaryotic translation initiation factor 4A3
ELN elastin
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALNS galactosamine (N-acetyl)-6-sulfatase
GBA glucosidase, beta, acid
GLB1 galactosidase, beta 1
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GNS glucosamine (N-acetyl)-6-sulfatase
GPC3 glypican 3
GPC4 glypican 4
GSC goosecoid homeobox
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IMPAD1 inositol monophosphatase domain containing 1
INSR insulin receptor
IRX5 iroquois homeobox 5
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
LARP7 La ribonucleoprotein domain family, member 7
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MAPK1 mitogen-activated protein kinase 1
MBD5 methyl-CpG binding domain protein 5
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MKS1 Meckel syndrome, type 1
MMP1 matrix metallopeptidase 1
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NALCN sodium leak channel, non selective
NOTCH2 notch 2
NRXN1 neurexin 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCA2 oculocutaneous albinism II
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAX3 paired box 3
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLCB4 phospholipase C, beta 4
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRRX1 paired related homeobox 1
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
RAB40AL RAB40A, member RAS oncogene family-like
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SALL1 spalt-like transcription factor 1
SATB2 SATB homeobox 2
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPT9 septin 9
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH3PXD2B SH3 and PX domains 2B
SKI SKI proto-oncogene
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SNIP1 Smad nuclear interacting protein 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX11 SRY (sex determining region Y)-box 11
SP7 Sp7 transcription factor
SPEG SPEG complex locus
SRCAP Snf2-related CREBBP activator protein
STRADA STE20-related kinase adaptor alpha
SULF1 sulfatase 1
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TBX2 T-box 2
TBX4 T-box 4
TCF4 transcription factor 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
TMCO1 transmembrane and coiled-coil domains 1
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TTC37 tetratricopeptide repeat domain 37
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
WNT3 wingless-type MMTV integration site family, member 3
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB16 zinc finger and BTB domain containing 16
ZMPSTE24 zinc metallopeptidase STE24