Disease-gene associations mined from literature

Literature associating NIPBL and brachydactyly

NIPBL [ENSP00000282516]

Nipped-B homolog (Drosophila); Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others; Armadillo-like helical domain containing

Synonyms:  NIPBL,  A2RRA7,  H0Y8M3,  Q6KC79,  A2RRA7p ...

Linkouts:  STRING  Pharos  UniProt  OMIM