open mouth Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A facial appearance characterized by a permanently or nearly permanently opened mouth. (Human Phenotype Ontology, HP_0000194)
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39 genes associated with the open mouth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
BRAF B-Raf proto-oncogene, serine/threonine kinase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DST dystonin
FLII flightless I homolog (Drosophila)
GBA glucosidase, beta, acid
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KANSL1 KAT8 regulatory NSL complex subunit 1
KIF7 kinesin family member 7
LMNA lamin A/C
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
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
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
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
POMT2 protein-O-mannosyltransferase 2
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RAI1 retinoic acid induced 1
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
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
TBX1 T-box 1
TCF4 transcription factor 4
TMEM237 transmembrane protein 237
UBA1 ubiquitin-like modifier activating enzyme 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
ZMPSTE24 zinc metallopeptidase STE24