Gene table of GDF6 : growth differentiation factor 6

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GDF6	OMIM link	Number of associated genes	genes
PS118100	KLIPPEL-FEIL SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	MEOX1, GDF3, GDF6, MYO18B
PS251600	MICROPHTHALMIA, ISOLATED	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	MFRP, ALDH1A3, RAX, GDF3, GDF6, VSX2, PRSS56
PS300345	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	ClinVar, OMIM	link to OMIM	8	TENM3, RBP4, GDF6, SHH, STRA6, GDF3, ABCB6, VSX2
PS204000	LEBER CONGENITAL AMAUROSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	19	TULP1, PRPH2, LRAT, SPATA7, CEP290, RDH12, CRX, GDF6, RPGRIP1, GUCY2D, RPE65, ROM1, KCNJ13, RD3, NMNAT1, LCA5, IMPDH1, CRB1, AIPL1

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

KEGG pathway	KEGG ID	KEGG IC
TGF-beta signaling pathway	hsa04350	6.41
Hippo signaling pathway	hsa04390	5.37

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cytokine receptor binding	GO:0005126	4.14
cytokine activity	GO:0005125	4.34
growth factor activity	GO:0008083	4.66
transforming growth factor beta receptor binding	GO:0005160	5.81
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43
protein dimerization activity	GO:0046983	2.72
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16