Disease ID | Disease name | Source of annotation with GDNF | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS142623 | HIRSCHSPRUNG DISEASE | ClinVar, OMIM, HUMSAVAR | 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 |
171300 | PHEOCHROMOCYTOMA | OMIM | link to OMIM | 8 | VHL, GDNF, SDHB, KIF1B, RET, MAX, TMEM127, SDHD |
209880 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL | ClinVar, OMIM | link to OMIM | 6 | ASCL1, GDNF, EDN3, BDNF, PHOX2B, RET |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 |
Axon guidance | R-HSA-422475 | 3.93 |
NCAM1 interactions | R-HSA-419037 | 7.59 |
Developmental Biology | R-HSA-1266738 | 3.48 |
GO term | GO ID | GO IC |
---|---|---|
Ras guanyl-nucleotide exchange factor activity | GO:0005088 | 4.31 |
growth factor activity | GO:0008083 | 4.66 |
guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
receptor binding | GO:0005102 | 2.43 |
molecular function regulator | GO:0098772 | 2.51 |
protein dimerization activity | GO:0046983 | 2.72 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |