triple-a syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_0050602)
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Genes

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

Symbol Name Standardized Value
AAAS achalasia, adrenocortical insufficiency, alacrimia 2.76413
MC2R melanocortin 2 receptor (adrenocorticotropic hormone) 1.87515
BRWD1 bromodomain and WD repeat domain containing 1 1.73823
POMC proopiomelanocortin 1.70224
IPO11 importin 11 1.55557
NDC1 NDC1 transmembrane nucleoporin 1.51457
GMPPA GDP-mannose pyrophosphorylase A 1.49394
SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 1.26603
SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 1.22518
SCARA3 scavenger receptor class A, member 3 1.15922
KRT81 keratin 81, type II 1.11351
GMPPB GDP-mannose pyrophosphorylase B 1.08789
UBE2E3 ubiquitin-conjugating enzyme E2E 3 1.00541
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1.00119
SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 0.99697
KRT86 keratin 86, type II 0.966244
IPO7 importin 7 0.937459
NUP62 nucleoporin 62kDa 0.915139
APTX aprataxin 0.90732
LIG1 ligase I, DNA, ATP-dependent 0.891308
SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 0.859362
NUDT1 nudix (nucleoside diphosphate linked moiety X)-type motif 1 0.820026
ACD adrenocortical dysplasia homolog (mouse) 0.745172
LHX4 LIM homeobox 4 0.734217
TAC3 tachykinin 3 0.717635
SPTLC1 serine palmitoyltransferase, long chain base subunit 1 0.710378
SNRPA small nuclear ribonucleoprotein polypeptide A 0.649718
DUSP1 dual specificity phosphatase 1 0.610057
TACR3 tachykinin receptor 3 0.610057
SOX3 SRY (sex determining region Y)-box 3 0.586276
NR0B1 nuclear receptor subfamily 0, group B, member 1 0.579661
MRAP melanocortin 2 receptor accessory protein 0.57655
PROKR2 prokineticin receptor 2 0.574217
HESX1 HESX homeobox 1 0.561781
DHCR24 24-dehydrocholesterol reductase 0.532314
PROP1 PROP paired-like homeobox 1 0.485505
PROK2 prokineticin 2 0.47374
KISS1R KISS1 receptor 0.433772
STAR steroidogenic acute regulatory protein 0.408666
UBE2H ubiquitin-conjugating enzyme E2H 0.408292
GNRHR gonadotropin-releasing hormone receptor 0.380739
SP6 Sp6 transcription factor 0.354868
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 0.338341
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.268332
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.261245
FOXM1 forkhead box M1 0.178682