everted lower lip vermilion Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. (Human Phenotype Ontology, HP_0000232)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000232
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Genes

74 genes associated with the everted lower lip vermilion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABHD5 abhydrolase domain containing 5
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ANTXR1 anthrax toxin receptor 1
ARID1B AT rich interactive domain 1B (SWI1-like)
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BDNF brain-derived neurotrophic factor
CCDC8 coiled-coil domain containing 8
CLIP2 CAP-GLY domain containing linker protein 2
CUL4B cullin 4B
CUL7 cullin 7
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
FBXL4 F-box and leucine-rich repeat protein 4
FGD1 FYVE, RhoGEF and PH domain containing 1
FOXC1 forkhead box C1
FOXG1 forkhead box G1
GBA glucosidase, beta, acid
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IGF1R insulin-like growth factor 1 receptor
KANSL1 KAT8 regulatory NSL complex subunit 1
KIF1BP KIF1 binding protein
LIMK1 LIM domain kinase 1
LIPN lipase, family member N
MBD5 methyl-CpG binding domain protein 5
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MSX1 msh homeobox 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NIPAL4 NIPA-like domain containing 4
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
PAX6 paired box 6
PHGDH phosphoglycerate dehydrogenase
PITX2 paired-like homeodomain 2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PSAT1 phosphoserine aminotransferase 1
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RFC2 replication factor C (activator 1) 2, 40kDa
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SCARF2 scavenger receptor class F, member 2
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGM1 transglutaminase 1
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WT1 Wilms tumor 1