Gene table of PRPH2 : peripherin 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PRPH2	OMIM link	Number of associated genes	genes
PS153840	MACULAR DYSTROPHY, VITELLIFORM	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	PRPH2, IMPG1, IMPG2, BEST1
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
PS169150	MACULAR DYSTROPHY, PATTERNED	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	PRPH2, CTNNA1
PS215500	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PRPH2
136880	FUNDUS ALBIPUNCTATUS	OMIM	link to OMIM	4	PRPH2, RLBP1, RDH5, RHO
PS204000	LEBER CONGENITAL AMAUROSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	19	PRPH2, TULP1, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, RPGRIP1, GUCY2D, CRB1, ROM1, KCNJ13, RD3, NMNAT1, LCA5, IMPDH1, 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

Associated REACTOME pathways

Associated GO terms for Molecular function