thick lower lip vermilion Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). (Human Phenotype Ontology, HP_0000179)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000179
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACSL4 acyl-CoA synthetase long-chain family member 4
AGA aspartylglucosaminidase
AIP aryl hydrocarbon receptor interacting protein
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRAF B-Raf proto-oncogene, serine/threonine kinase
C12ORF57 chromosome 12 open reading frame 57
CAMTA1 calmodulin binding transcription activator 1
CDC6 cell division cycle 6
CDKL5 cyclin-dependent kinase-like 5
CDT1 chromatin licensing and DNA replication factor 1
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
CUL4B cullin 4B
CUL7 cullin 7
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
DEAF1 DEAF1 transcription factor
ECM1 extracellular matrix protein 1
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
ELN elastin
FBN1 fibrillin 1
FUCA1 fucosidase, alpha-L- 1, tissue
GATA1 GATA binding protein 1 (globin transcription factor 1)
GLA galactosidase, alpha
GNS glucosamine (N-acetyl)-6-sulfatase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HRAS Harvey rat sarcoma viral oncogene homolog
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
INSR insulin receptor
KAT6B K(lysine) acetyltransferase 6B
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIF11 kinesin family member 11
KRAS Kirsten rat sarcoma viral oncogene homolog
LIMK1 LIM domain kinase 1
MED12 mediator complex subunit 12
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
NAGA N-acetylgalactosaminidase, alpha-
NEU1 sialidase 1 (lysosomal sialidase)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PHGDH phosphoglycerate dehydrogenase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB40AL RAB40A, member RAS oncogene family-like
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RIT1 Ras-like without CAAX 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7 ribosomal protein S7
SH3PXD2B SH3 and PX domains 2B
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMS spermine synthase
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SRD5A3 steroid 5 alpha-reductase 3
STRADA STE20-related kinase adaptor alpha
TBL2 transducin (beta)-like 2
TCF4 transcription factor 4
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
ZBTB20 zinc finger and BTB domain containing 20