| Disease ID | Disease name | Source of annotation with NR2E3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 268100 | ENHANCED S-CONE SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | NR2E3 |
| 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
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Nuclear Receptor transcription pathway | R-HSA-383280 | 7.31 |
| Generic Transcription Pathway | R-HSA-212436 | 3.86 |
| Gene Expression | R-HSA-74160 | 2.72 |
| GO term | GO ID | GO IC |
|---|---|---|
| signaling receptor activity | GO:0038023 | 2.49 |
| nucleic acid binding | GO:0003676 | 1.44 |
| molecular transducer activity | GO:0060089 | 2.32 |
| transcription factor activity, direct ligand regulated sequence-specific DNA binding | GO:0098531 | 5.87 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| DNA binding | GO:0003677 | 1.92 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding | GO:0004879 | 5.87 |
| sequence-specific DNA binding | GO:0043565 | 2.79 |
| transition metal ion binding | GO:0046914 | 2.48 |
| ion binding | GO:0043167 | 1.36 |
| receptor activity | GO:0004872 | 2.32 |
| metal ion binding | GO:0046872 | 1.41 |
| RNA polymerase II transcription factor activity, sequence-specific DNA binding | GO:0000981 | 3.29 |
| cation binding | GO:0043169 | 1.4 |
| transcription factor activity, sequence-specific DNA binding | GO:0003700 | 2.65 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| nucleic acid binding transcription factor activity | GO:0001071 | 2.65 |
| steroid hormone receptor activity | GO:0003707 | 5.66 |
| protein binding | GO:0005515 | 0.46 |
| zinc ion binding | GO:0008270 | 2.66 |