Gene table of GFRA1 : GDNF family receptor alpha 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GFRA1	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

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

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

Associated GO terms for Molecular function

GO term	GO ID	GO IC
Ras guanyl-nucleotide exchange factor activity	GO:0005088	4.31
molecular function regulator	GO:0098772	2.51
signaling receptor activity	GO:0038023	2.49
signal transducer activity	GO:0004871	2.28
guanyl-nucleotide exchange factor activity	GO:0005085	4.02
glial cell-derived neurotrophic factor receptor activity	GO:0016167	8.64
molecular transducer activity	GO:0060089	2.32
transmembrane signaling receptor activity	GO:0004888	2.57
receptor activity	GO:0004872	2.32
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43
cytokine receptor activity	GO:0004896	5.24
transmembrane receptor activity	GO:0099600	2.53
binding	GO:0005488	0.18