Hypertelorism Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). (Human Phenotype Ontology, HP_0000316)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D006972
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Genes

28 genes/proteins associated with the disease Hypertelorism from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
EFNB1 ephrin-B1 2.88009
SLC22A7 solute carrier family 22 (organic anion transporter), member 7 1.22177
DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1 1.20558
UNG uracil-DNA glycosylase 1.20097
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 1.18193
RIOK2 RIO kinase 2 1.16434
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 1.11707
CEP57 centrosomal protein 57kDa 1.11707
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 1.11673
SCN1A sodium channel, voltage gated, type I alpha subunit 1.08833
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 1.08797
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 1.07447
FZD4 frizzled class receptor 4 1.06625
ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 1.05828
SP3 Sp3 transcription factor 1.05793
ASL argininosuccinate lyase 1.05757
POR P450 (cytochrome) oxidoreductase 1.04978
ENPEP glutamyl aminopeptidase (aminopeptidase A) 1.04757
PGRMC1 progesterone receptor membrane component 1 1.04239
SHMT1 serine hydroxymethyltransferase 1 (soluble) 1.04163
GSTA2 glutathione S-transferase alpha 2 1.03939
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 1.03678
IHH indian hedgehog 1.03456
CHKA choline kinase alpha 1.03197
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 1.02634
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1.0204
PLTP phospholipid transfer protein 1.01625
CD47 CD47 molecule 1.01025