goldenhar syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. (Human Disease Ontology, DOID_2907)
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Genes

46 genes co-occuring with the disease goldenhar syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SALL1 spalt-like transcription factor 1 1.70542
NCOA1 nuclear receptor coactivator 1 1.53745
TCOF1 Treacher Collins-Franceschetti syndrome 1 1.52292
COX6A1 cytochrome c oxidase subunit VIa polypeptide 1 1.41271
GPX7 glutathione peroxidase 7 1.12193
KLF10 Kruppel-like factor 10 1.06858
GALNS galactosamine (N-acetyl)-6-sulfatase 1.05765
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 1.0362
MECOM MDS1 and EVI1 complex locus 1.03577
ESRRG estrogen-related receptor gamma 1.00752
MSX2 msh homeobox 2 0.994439
VRK1 vaccinia related kinase 1 0.993174
WNT5B wingless-type MMTV integration site family, member 5B 0.9839
OFD1 oral-facial-digital syndrome 1 0.900335
EYA1 EYA transcriptional coactivator and phosphatase 1 0.843392
CLPS colipase, pancreatic 0.795821
YARS tyrosyl-tRNA synthetase 0.773296
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.732596
OTX2 orthodenticle homeobox 2 0.730976
TBX5 T-box 5 0.729762
GREM2 gremlin 2, DAN family BMP antagonist 0.718846
CHD7 chromodomain helicase DNA binding protein 7 0.701928
TRPV6 transient receptor potential cation channel, subfamily V, member 6 0.685091
SALL4 spalt-like transcription factor 4 0.667152
FGF8 fibroblast growth factor 8 (androgen-induced) 0.615921
CLEC2A C-type lectin domain family 2, member A 0.610838
PORCN porcupine homolog (Drosophila) 0.608104
SKP1 S-phase kinase-associated protein 1 0.563723
SHH sonic hedgehog 0.562558
IHH indian hedgehog 0.551298
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 0.543542
GLI2 GLI family zinc finger 2 0.531928
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.518805
FGF19 fibroblast growth factor 19 0.507657
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.468063
L1CAM L1 cell adhesion molecule 0.461639
SDC2 syndecan 2 0.460129
PAX3 paired box 3 0.377031
FGD1 FYVE, RhoGEF and PH domain containing 1 0.365562
NOTCH1 notch 1 0.340173
PTER phosphotriesterase related 0.335778
MNX1 motor neuron and pancreas homeobox 1 0.328105
OCLN occludin 0.308842
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 0.25207
MMP7 matrix metallopeptidase 7 0.238752
AFP alpha-fetoprotein 0.184424