Disease ID | Disease name | Source of annotation with PRPF31 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
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 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Spliceosome | hsa03040 | 5.73 |
GO term | GO ID | GO IC |
---|---|---|
nucleic acid binding | GO:0003676 | 1.44 |
U4 snRNA binding | GO:0030621 | 8.13 |
organic cyclic compound binding | GO:0097159 | 1.05 |
poly(A) RNA binding | GO:0044822 | 2.69 |
U4atac snRNA binding | GO:0030622 | 9.05 |
snRNP binding | GO:0070990 | 9.74 |
snRNA binding | GO:0017069 | 6.21 |
macromolecular complex binding | GO:0044877 | 2.61 |
RNA binding | GO:0003723 | 2.36 |
protein binding | GO:0005515 | 0.46 |
ribonucleoprotein complex binding | GO:0043021 | 5.15 |
heterocyclic compound binding | GO:1901363 | 1.06 |
binding | GO:0005488 | 0.18 |