eclabion Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A turning outward of the lip or lips, that is, eversion of the lips. (Human Phenotype Ontology, HP_0012472)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012472
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Genes

75 genes associated with the eclabion 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
RAI1 retinoic acid induced 1
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