lacrimation abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of tear production. (Human Phenotype Ontology, HP_0000632)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000632
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Genes

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BIRC3 baculoviral IAP repeat containing 3
CHD7 chromodomain helicase DNA binding protein 7
CLIP2 CAP-GLY domain containing linker protein 2
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
DKC1 dyskeratosis congenita 1, dyskerin
DST dystonin
ELN elastin
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXP1 forkhead box P1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
GJB6 gap junction protein, beta 6, 30kDa
GMPPA GDP-mannose pyrophosphorylase A
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
KAT6B K(lysine) acetyltransferase 6B
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
MALT1 MALT1 paracaspase
NOP10 NOP10 ribonucleoprotein
OCRL oculocerebrorenal syndrome of Lowe
PAX1 paired box 1
PAX3 paired box 3
PTDSS1 phosphatidylserine synthase 1
RFC2 replication factor C (activator 1) 2, 40kDa
SCN9A sodium channel, voltage gated, type IX alpha subunit
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SETBP1 SET binding protein 1
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
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
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
TBL2 transducin (beta)-like 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TP63 tumor protein p63
TWIST2 twist family bHLH transcription factor 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1