abnormality of mouth shape Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the outline, configuration, or contour of the mouth. (Human Phenotype Ontology, HP_0011338)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011338
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CHL1 cell adhesion molecule L1-like
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CNTN4 contactin 4
COLEC11 collectin sub-family member 11
CRBN cereblon
DCHS1 dachsous cadherin-related 1
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DSE dermatan sulfate epimerase
DST dystonin
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ERF Ets2 repressor factor
FAT4 FAT atypical cadherin 4
FLII flightless I homolog (Drosophila)
GBA glucosidase, beta, acid
GCK glucokinase (hexokinase 4)
GK glycerol kinase
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HMGA2 high mobility group AT-hook 2
HSPG2 heparan sulfate proteoglycan 2
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INS insulin
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KIF7 kinesin family member 7
KRT14 keratin 14, type I
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEL2 melanoma antigen family L2
MBD5 methyl-CpG binding domain protein 5
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIPOL1 mirror-image polydactyly 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NDN necdin, melanoma antigen (MAGE) family member
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OCRL oculocerebrorenal syndrome of Lowe
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PDE4D phosphodiesterase 4D, cAMP-specific
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POMT2 protein-O-mannosyltransferase 2
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RAB18 RAB18, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SC5D sterol-C5-desaturase
SIX6 SIX homeobox 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRPN small nuclear ribonucleoprotein polypeptide N
SRCAP Snf2-related CREBBP activator protein
STAC3 SH3 and cysteine rich domain 3
TBC1D24 TBC1 domain family, member 24
TBX1 T-box 1
TCF4 transcription factor 4
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TMEM237 transmembrane protein 237
TRAPPC9 trafficking protein particle complex 9
TWIST2 twist family bHLH transcription factor 2
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
ZMPSTE24 zinc metallopeptidase STE24