abnormality of lower lip Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the lower lip. (Human Phenotype Ontology, HP_0000178)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000178
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Genes

148 genes associated with the abnormality of lower lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
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
ACSL4 acyl-CoA synthetase long-chain family member 4
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AGA aspartylglucosaminidase
AIP aryl hydrocarbon receptor interacting protein
ALOX12B arachidonate 12-lipoxygenase, 12R type
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
BDNF brain-derived neurotrophic factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
C12ORF57 chromosome 12 open reading frame 57
CAMTA1 calmodulin binding transcription activator 1
CCDC8 coiled-coil domain containing 8
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
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DEAF1 DEAF1 transcription factor
ECM1 extracellular matrix protein 1
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
FBN1 fibrillin 1
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
FUCA1 fucosidase, alpha-L- 1, tissue
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GLA galactosidase, alpha
GNS glucosamine (N-acetyl)-6-sulfatase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IGF1R insulin-like growth factor 1 receptor
INSR insulin receptor
IRF6 interferon regulatory factor 6
KANSL1 KAT8 regulatory NSL complex subunit 1
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
KIF1BP KIF1 binding protein
KRAS Kirsten rat sarcoma viral oncogene homolog
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
MED12 mediator complex subunit 12
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MSX1 msh homeobox 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NAGA N-acetylgalactosaminidase, alpha-
NEU1 sialidase 1 (lysosomal sialidase)
NIPAL4 NIPA-like domain containing 4
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PAX6 paired box 6
PHGDH phosphoglycerate dehydrogenase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PITX2 paired-like homeodomain 2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
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
SCARF2 scavenger receptor class F, member 2
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
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TCF4 transcription factor 4
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
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WT1 Wilms tumor 1
ZBTB20 zinc finger and BTB domain containing 20