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Table 7 Transcription factor binding site

From: Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

Gene Description Degree Clinical significance Reference
Transcription factors using JASPER database     
FOXC1 Forkhead Box C1 239 WAGER syndrome Genecards
    Microcephaly intellectual disability Genecards
     [28, 29]
GATA2 GATA Binding Protein 2 200 Intellectual Disability [34]
    Myelodysplastic syndrome [31,32,33]
YY1 YIN-YANG-1 113 rett syndrome Genecards
    Intellectual Disability [37]
FOXL1 Forkhead Box L1 103 autism [43]
NFIC Nuclear Factor I C 96 Bipolar disorder [38,39,40]
PPARG Peroxisome Proliferator Activated Receptor Gamma 85 Alzheimer disease Genecards
E2F1 E2F Transcription Factor 1 85 Epilepsy Genecards
PRRG4 Proline Rich And Gla Domain 4 33 WAGER syndrome [44]
hsa-mir-92a-3p microRNA 29 Autoimmune disease of CNS Genecards
    Nervous system disease Genecards
    Schizophrenia [45]
    Autism [46]