blepharophimosis, ptosis, and epicanthus inversus syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_14778)
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Genes

31 genes co-occuring with the disease blepharophimosis, ptosis, and epicanthus inversus syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
FOXL2 forkhead box L2 3.63425
FOXP2 forkhead box P2 2.2463
ZIC4 Zic family member 4 1.58448
SOX14 SRY (sex determining region Y)-box 14 1.53568
ZIC1 Zic family member 1 1.43244
OSR2 odd-skipped related transciption factor 2 1.16606
NR5A1 nuclear receptor subfamily 5, group A, member 1 0.764718
DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 0.762678
RBP1 retinol binding protein 1, cellular 0.712796
PCCB propionyl CoA carboxylase, beta polypeptide 0.695504
ATR ATR serine/threonine kinase 0.677504
BMP15 bone morphogenetic protein 15 0.640251
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 0.626495
KIF21A kinesin family member 21A 0.6214
SRY sex determining region Y 0.610448
GDF9 growth differentiation factor 9 0.590558
RFC2 replication factor C (activator 1) 2, 40kDa 0.580828
MC2R melanocortin 2 receptor (adrenocorticotropic hormone) 0.569552
FOXE1 forkhead box E1 0.565277
MCPH1 microcephalin 1 0.549747
SEPT9 septin 9 0.509576
STAR steroidogenic acute regulatory protein 0.419517
AFF2 AF4/FMR2 family, member 2 0.345308
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 0.339073
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 0.314278
SOX10 SRY (sex determining region Y)-box 10 0.312827
TWIST1 twist family bHLH transcription factor 1 0.275089
CASP8 caspase 8, apoptosis-related cysteine peptidase 0.201635
SOX9 SRY (sex determining region Y)-box 9 0.188022
CCND2 cyclin D2 0.165001
BMP4 bone morphogenetic protein 4 0.160948