Gene table of USH2A : usherin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with USH2A	OMIM link	Number of associated genes	genes
PS276900	USHER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	12	WHRN, PCDH15, USH1G, PDZD7, CLRN1, MYO7A, USH1C, ADGRV1, CDH23, CIB2, USH2A, HARS
PS268000	RETINITIS PIGMENTOSA	ClinVar, OMIM, HUMSAVAR	link to OMIM	69	PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A

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

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cytoskeletal protein binding	GO:0008092	3.02
myosin binding	GO:0017022	5.66
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
protein complex binding	GO:0032403	3.09
protein dimerization activity	GO:0046983	2.72
collagen binding	GO:0005518	5.58
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16