Disease ID | Disease name | Source of annotation with CNTN5 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS142623 | HIRSCHSPRUNG DISEASE | ClinVar | link to OMIM | 21 | TSC2, KDR, GDNF, PTCH1, GFRA1, NTF3, IRAK3, EDN3, ZHX2, THBS4, AHNAK, POLR2F, FBN1, RET, CNTN5, DPYD, EDNRB, CREBBP, SEMA3D, FAT3, PLAU |
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