abnormality of the sclera Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the sclera. (Human Phenotype Ontology, HP_0000591)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000591
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Genes

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

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALPL alkaline phosphatase, liver/bone/kidney
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BMP1 bone morphogenetic protein 1
CANT1 calcium activated nucleotidase 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHSY1 chondroitin sulfate synthase 1
CLCNKB chloride channel, voltage-sensitive Kb
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
CRTAP cartilage associated protein
CTSK cathepsin K
DSE dermatan sulfate epimerase
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM111A family with sequence similarity 111, member A
FKBP10 FK506 binding protein 10, 65 kDa
GHR growth hormone receptor
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HGD homogentisate 1,2-dioxygenase
HSPG2 heparan sulfate proteoglycan 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INPPL1 inositol polyphosphate phosphatase-like 1
KDM6A lysine (K)-specific demethylase 6A
KIF1BP KIF1 binding protein
KMT2D lysine (K)-specific methyltransferase 2D
MFRP membrane frizzled-related protein
MVK mevalonate kinase
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
PAX1 paired box 1
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PPIB peptidylprolyl isomerase B (cyclophilin B)
PRDM5 PR domain containing 5
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PYCR1 pyrroline-5-carboxylate reductase 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL1 spalt-like transcription factor 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
WNT1 wingless-type MMTV integration site family, member 1
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZNF469 zinc finger protein 469