abnormality of the eyelashes Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the eyelashes. (Human Phenotype Ontology, HP_0000499)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000499
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ALX1 ALX homeobox 1
ANTXR1 anthrax toxin receptor 1
APCDD1 adenomatosis polyposis coli down-regulated 1
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
BANF1 barrier to autointegration factor 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BMP1 bone morphogenetic protein 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CAMKMT calmodulin-lysine N-methyltransferase
CANT1 calcium activated nucleotidase 1
CDH3 cadherin 3, type 1, P-cadherin (placental)
CLDN1 claudin 1
CLP1 cleavage and polyadenylation factor I subunit 1
COL3A1 collagen, type III, alpha 1
CREBBP CREB binding protein
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DOLK dolichol kinase
DSC3 desmocollin 3
DSG4 desmoglein 4
DSP desmoplakin
DUX4 double homeobox 4
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDN3 endothelin 3
EDNRB endothelin receptor type B
EP300 E1A binding protein p300
FBN1 fibrillin 1
FGF5 fibroblast growth factor 5
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXC2 forkhead box C2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FRG1 FSHD region gene 1
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GRIP1 glutamate receptor interacting protein 1
HDAC8 histone deacetylase 8
HR hair growth associated
HSPG2 heparan sulfate proteoglycan 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KDM6A lysine (K)-specific demethylase 6A
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT85 keratin 85, type II
LIPH lipase, member H
LMNA lamin A/C
LPAR6 lysophosphatidic acid receptor 6
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MITF microphthalmia-associated transcription factor
MLPH melanophilin
MOGS mannosyl-oligosaccharide glucosidase
NF1 neurofibromin 1
NIPBL Nipped-B homolog (Drosophila)
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
ORC1 origin recognition complex, subunit 1
PAX3 paired box 3
PHGDH phosphoglycerate dehydrogenase
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PUS1 pseudouridylate synthase 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
RAD21 RAD21 homolog (S. pombe)
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL21 ribosomal protein L21
SAT1 spermidine/spermine N1-acetyltransferase 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
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
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SNRPE small nuclear ribonucleoprotein polypeptide E
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SRCAP Snf2-related CREBBP activator protein
TBX2 T-box 2
TBX4 T-box 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
TMCO1 transmembrane and coiled-coil domains 1
TP63 tumor protein p63
TUBGCP6 tubulin, gamma complex associated protein 6
TWIST2 twist family bHLH transcription factor 2
UROS uroporphyrinogen III synthase
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZMPSTE24 zinc metallopeptidase STE24