Disease ID | Disease name | Source of annotation with AHNAK | 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 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
protein binding | GO:0005515 | 0.46 |
S100 protein binding | GO:0044548 | 7.17 |
organic cyclic compound binding | GO:0097159 | 1.05 |
poly(A) RNA binding | GO:0044822 | 2.69 |
structural molecule activity | GO:0005198 | 3.1 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
heterocyclic compound binding | GO:1901363 | 1.06 |
structural molecule activity conferring elasticity | GO:0097493 | 7.66 |
RNA binding | GO:0003723 | 2.36 |