abnormal size of the palpebral fissures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. (Human Phenotype Ontology, HP_0200007)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0200007
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Genes

121 genes associated with the abnormal size of the palpebral fissures 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
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTSL2 ADAMTS-like 2
ALX4 ALX homeobox 4
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ARID1B AT rich interactive domain 1B (SWI1-like)
ATR ATR serine/threonine kinase
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
BMP1 bone morphogenetic protein 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CEP57 centrosomal protein 57kDa
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
CNTN4 contactin 4
COLEC11 collectin sub-family member 11
CRBN cereblon
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CUL4B cullin 4B
DCHS1 dachsous cadherin-related 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DOK7 docking protein 7
ELN elastin
ERCC1 excision repair cross-complementation group 1
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
FAM111A family with sequence similarity 111, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FNBP4 formin binding protein 4
FOXG1 forkhead box G1
FOXL2 forkhead box L2
GJA1 gap junction protein, alpha 1, 43kDa
GPC6 glypican 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HHAT hedgehog acyltransferase
HSPG2 heparan sulfate proteoglycan 2
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCTD1 potassium channel tetramerization domain containing 1
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
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MOGS mannosyl-oligosaccharide glucosidase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
ORC1 origin recognition complex, subunit 1
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PCNT pericentrin
PHF6 PHD finger protein 6
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PYCR1 pyrroline-5-carboxylate reductase 1
RAB18 RAB18, member RAS oncogene family
RAB40AL RAB40A, member RAS oncogene family-like
RAD51C RAD51 paralog C
RAPSN receptor-associated protein of the synapse
RBM10 RNA binding motif protein 10
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SEPT9 septin 9
SIM1 single-minded family bHLH transcription factor 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
STAC3 SH3 and cysteine rich domain 3
STRA6 stimulated by retinoic acid 6
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
THOC6 THO complex 6
TP63 tumor protein p63
UBE3B ubiquitin protein ligase E3B
WDR35 WD repeat domain 35
WNT5A wingless-type MMTV integration site family, member 5A
ZMPSTE24 zinc metallopeptidase STE24