sparse or absent eyelashes Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0200102
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Genes

42 genes associated with the sparse or absent eyelashes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALX1 ALX homeobox 1
BANF1 barrier to autointegration factor 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDH3 cadherin 3, type 1, P-cadherin (placental)
CLDN1 claudin 1
DKC1 dyskeratosis congenita 1, dyskerin
DOLK dolichol kinase
DSC3 desmocollin 3
DSG4 desmoglein 4
DSP desmoplakin
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EDAR ectodysplasin A receptor
FIG4 FIG4 phosphoinositide 5-phosphatase
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GRIP1 glutamate receptor interacting protein 1
HR hair growth associated
KRT85 keratin 85, type II
LIPH lipase, member H
LMNA lamin A/C
LPAR6 lysophosphatidic acid receptor 6
MBTPS2 membrane-bound transcription factor peptidase, site 2
NOP10 NOP10 ribonucleoprotein
PHGDH phosphoglycerate dehydrogenase
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPL21 ribosomal protein L21
SAT1 spermidine/spermine N1-acetyltransferase 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SNRPE small nuclear ribonucleoprotein polypeptide E
SOX18 SRY (sex determining region Y)-box 18
TCOF1 Treacher Collins-Franceschetti syndrome 1
TMCO1 transmembrane and coiled-coil domains 1
TP63 tumor protein p63
TWIST2 twist family bHLH transcription factor 2
ZMPSTE24 zinc metallopeptidase STE24