Gene table of IFT140 : intraflagellar transport 140

Gene-disease associations table

Disease IDDisease nameSource of annotation with IFT140OMIM linkNumber of associated genesgenes
PS208500SHORT-RIB THORACIC DYSPLASIAClinVar, OMIM, HUMSAVAR link to OMIM 14CEP120, DYNC2H1, IFT80, IFT172, EVC, KIAA0586, IFT140, TTC21B, EVC2, WDR35, WDR19, WDR34, WDR60, NEK1
PS268000RETINITIS PIGMENTOSAClinVar link to OMIM 69PDE6A, 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

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Annotation of the gene IFT140

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
REACTOME pathwayREACTOME IDREACTOME IC
Hedgehog 'off' stateR-HSA-56107876.19
Organelle biogenesis and maintenanceR-HSA-18522414.63
Signaling by HedgehogR-HSA-53583515.79
Assembly of the primary ciliumR-HSA-56178335.44
Intraflagellar transportR-HSA-56209247.25
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function