Disease ID | Disease name | Source of annotation with IFT140 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS208500 | SHORT-RIB THORACIC DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | CEP120, DYNC2H1, IFT80, IFT172, EVC, KIAA0586, IFT140, TTC21B, EVC2, WDR35, WDR19, WDR34, WDR60, NEK1 |
PS268000 | RETINITIS PIGMENTOSA | ClinVar | 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 |
---|---|---|
Hedgehog 'off' state | R-HSA-5610787 | 6.19 |
Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
Signaling by Hedgehog | R-HSA-5358351 | 5.79 |
Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
Intraflagellar transport | R-HSA-5620924 | 7.25 |
Signal Transduction | R-HSA-162582 | 1.78 |