upslanted palpebral fissure Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. (Human Phenotype Ontology, HP_0000582)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000582
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Genes

108 genes associated with the upslanted palpebral fissure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ADAMTSL2 ADAMTS-like 2
AHDC1 AT hook, DNA binding motif, containing 1
ALX4 ALX homeobox 4
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARID1B AT rich interactive domain 1B (SWI1-like)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C2CD3 C2 calcium-dependent domain containing 3
CD96 CD96 molecule
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COMT catechol-O-methyltransferase
DHCR7 7-dehydrocholesterol reductase
DLG3 discs, large homolog 3 (Drosophila)
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ERCC4 excision repair cross-complementation group 4
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
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
GATA1 GATA binding protein 1 (globin transcription factor 1)
GJA1 gap junction protein, alpha 1, 43kDa
GP1BB glycoprotein Ib (platelet), beta polypeptide
HBB hemoglobin, beta
HDAC4 histone deacetylase 4
HIRA histone cell cycle regulator
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KDM5C lysine (K)-specific demethylase 5C
KIF11 kinesin family member 11
LIG4 ligase IV, DNA, ATP-dependent
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NBN nibrin
NDN necdin, melanoma antigen (MAGE) family member
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCRL oculocerebrorenal syndrome of Lowe
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PGAP3 post-GPI attachment to proteins 3
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PQBP1 polyglutamine binding protein 1
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
ROR2 receptor tyrosine kinase-like orphan receptor 2
SEPT9 septin 9
SETD5 SET domain containing 5
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLX4 SLX4 structure-specific endonuclease subunit
SNRPN small nuclear ribonucleoprotein polypeptide N
TBX1 T-box 1
TBX6 T-box 6
TCF4 transcription factor 4
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
THOC6 THO complex 6
TMCO1 transmembrane and coiled-coil domains 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WNT5A wingless-type MMTV integration site family, member 5A
ZC4H2 zinc finger, C4H2 domain containing
ZIC2 Zic family member 2