downturned corners of mouth Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. (Human Phenotype Ontology, HP_0002714)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002714
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Genes

50 genes associated with the downturned corners of mouth 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
BMP4 bone morphogenetic protein 4
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
DSE dermatan sulfate epimerase
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ERF Ets2 repressor factor
FAT4 FAT atypical cadherin 4
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
INS insulin
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MBD5 methyl-CpG binding domain protein 5
MEF2C myocyte enhancer factor 2C
MIPOL1 mirror-image polydactyly 1
NDN necdin, melanoma antigen (MAGE) family member
NELFA negative elongation factor complex member A
NIPBL Nipped-B homolog (Drosophila)
NOTCH2 notch 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
RAB18 RAB18, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
ROR2 receptor tyrosine kinase-like orphan receptor 2
SC5D sterol-C5-desaturase
SIX6 SIX homeobox 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
TRAPPC9 trafficking protein particle complex 9
TWIST2 twist family bHLH transcription factor 2
UBE2A ubiquitin-conjugating enzyme E2A
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A