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Table 1 Top 20 TF-target disease associations. The “Literature Rich” gene universe is used for the association detection

From: Systematic target function annotation of human transcription factors

TF Target disease log2(OR)a P valueb Evidencec
ATF3 Lysosomal storage disease 4.5 3.9 × 10-09
BRCA1 Mitochondrial metabolism disease 3.1 3.7 × 10-09
CTBP2 Heart septal defect 6.9 4.4 × 10-10 Mousef [149]
Congenital heart disease 6.5 1.6 × 10-09 Mousef [149]
ETS1 Organ system cancer 2.6 1.2 × 10-08 Mutationd [150]
GATA1 Acute porphyria 7.4 9.8 × 10-09 Mutationd [50]
HNF4A Mitochondrial metabolism disease 3.0 5.3 × 10-09 Mutation in MODY1d [140]
NFE2 Lysosomal storage disease 5.7 4.8 × 10-12
Lipid storage disease 6.0 5.8 × 10-09
RFX2 Bardet-Biedl syndrome 5.5 1.1 × 10-12 Mousef [144, 145]
SOX10 Waardenburg’s syndrome 11.4 2.0 × 10-09 Mutationd [141]
SUZ12 Heart septal defect 6.2 7.4 × 10-09 Mousef [151]
TP53 Organ system cancer 3.5 1.5 × 10-19 Mutations in multiple cancerd
Cancer 3.5 3.6 × 10-19 Types [152]
Disease of cellular proliferation 3.4 1.7 × 10-18
Reproductive organ cancer 4.8 1.2 × 10-08
USF1 Disease of metabolism 2.2 1.3 × 10-10 Association with FCHLe [153, 154]
Inherited metabolic disorder 2.2 7.5 × 10-09
USF2 Lysosomal storage disease 4.1 1.3 × 10-09
Disease of metabolism 2.3 2.8 × 10-09
  1. alog2(OR), log2 transformed odds ratio
  2. bP value from single-tailed Fisher’s exact test for odds ratio > 1
  3. cEvidence lists published genetic evidence directly support the association of the TF with the disease
  4. dMutation mutations of the TF are observed in the disease or closely related diseases
  5. eAssociation, the TF gene locus is genetically associated with the disease or related diseases
  6. fMouse mouse model shows phenotypes directly related to the disease.
  7. Non-genetic evidence in the literature is not considered.
  8. MODY1 maturity-onset diabetes of the young, FCHL familial combined hyperlipidemia