Name

CPBHM Gene

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

TFPT Gene

TCF3 (E2A) fusion partner (in childhood Leukemia)

Predicted to enable DNA binding activity. Involved in several processes, including apoptotic signaling pathway; chromatin remodeling; and regulation of nucleobase-containing compound metabolic process. Located in nucleoplasm. Part of Ino80 complex. [provided by Alliance of Genome Resources, Mar 2025]

ECA1 Gene

epilepsy, childhood absence 1