abnormality of globe size Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in the size of the ocular globe (eyeball). (Human Phenotype Ontology, HP_0100887)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100887
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
ARHGAP31 Rho GTPase activating protein 31
ARX aristaless related homeobox
ATOH7 atonal homolog 7 (Drosophila)
ATR ATR serine/threonine kinase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GAT3 beta-1,3-glucuronyltransferase 3
BCOR BCL6 corepressor
BEST1 bestrophin 1
BMP4 bone morphogenetic protein 4
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CHD7 chromodomain helicase DNA binding protein 7
CRYAA crystallin, alpha A
CSPP1 centrosome and spindle pole associated protein 1
DOCK6 dedicator of cytokinesis 6
DPYD dihydropyrimidine dehydrogenase
EBP emopamil binding protein (sterol isomerase)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM111A family with sequence similarity 111, member A
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCG Fanconi anemia, complementation group G
FBN1 fibrillin 1
FKRP fukutin related protein
FKTN fukutin
FOXE3 forkhead box E3
FOXL2 forkhead box L2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GRIP1 glutamate receptor interacting protein 1
HCCS holocytochrome c synthase
HDAC6 histone deacetylase 6
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HYLS1 hydrolethalus syndrome 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
ISPD isoprenoid synthase domain containing
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
LRP5 low density lipoprotein receptor-related protein 5
MFRP membrane frizzled-related protein
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDP Norrie disease (pseudoglioma)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
OCRL oculocerebrorenal syndrome of Lowe
PAX2 paired box 2
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTCH2 patched 2
PXDN peroxidasin
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RARB retinoic acid receptor, beta
RAX retina and anterior neural fold homeobox
RBBP8 retinoblastoma binding protein 8
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
RPGRIP1L RPGRIP1-like
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SIX3 SIX homeobox 3
SIX6 SIX homeobox 6
SLC38A8 solute carrier family 38, member 8
SMAD4 SMAD family member 4
SMOC1 SPARC related modular calcium binding 1
SOX2 SRY (sex determining region Y)-box 2
STRA6 stimulated by retinoic acid 6
SUFU suppressor of fused homolog (Drosophila)
TBC1D20 TBC1 domain family, member 20
TBX15 T-box 15
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN2 tectonic family member 2
TENM3 teneurin transmembrane protein 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM216 transmembrane protein 216
TMEM237 transmembrane protein 237
TUBB tubulin, beta class I
TUBGCP6 tubulin, gamma complex associated protein 6
VSX2 visual system homeobox 2
WNT3 wingless-type MMTV integration site family, member 3
YAP1 Yes-associated protein 1