narrow mouth Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). (Human Phenotype Ontology, HP_0000160)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000160
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Genes

93 genes associated with the narrow mouth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ANKRD11 ankyrin repeat domain 11
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCR breakpoint cluster region
BMP2 bone morphogenetic protein 2
CAMTA1 calmodulin binding transcription activator 1
CANT1 calcium activated nucleotidase 1
CCBE1 collagen and calcium binding EGF domains 1
CCND2 cyclin D2
CDC6 cell division cycle 6
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
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
DHCR24 24-dehydrocholesterol reductase
DOK7 docking protein 7
EIF4A3 eukaryotic translation initiation factor 4A3
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
GBA glucosidase, beta, acid
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GSC goosecoid homeobox
HDAC8 histone deacetylase 8
HSPG2 heparan sulfate proteoglycan 2
IMPAD1 inositol monophosphatase domain containing 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
LMNA lamin A/C
MAPK1 mitogen-activated protein kinase 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MMP1 matrix metallopeptidase 1
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NOTCH2 notch 2
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
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLCB4 phospholipase C, beta 4
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRRX1 paired related homeobox 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
RAPSN receptor-associated protein of the synapse
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
SATB2 SATB homeobox 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPT9 septin 9
SKI SKI proto-oncogene
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMAD4 SMAD family member 4
SP7 Sp7 transcription factor
SPEG SPEG complex locus
SULF1 sulfatase 1
TBC1D20 TBC1 domain family, member 20
TBX2 T-box 2
TBX4 T-box 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
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
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