Disease ID | Disease name | Source of annotation with SLC7A14 | 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
GO term | GO ID | GO IC |
---|---|---|
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
antiporter activity | GO:0015297 | 5.33 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
secondary active transmembrane transporter activity | GO:0015291 | 4.29 |
transporter activity | GO:0005215 | 2.57 |
transmembrane transporter activity | GO:0022857 | 2.82 |
L-amino acid transmembrane transporter activity | GO:0015179 | 6.0 |
organic acid transmembrane transporter activity | GO:0005342 | 4.97 |
amino acid transmembrane transporter activity | GO:0015171 | 5.38 |
carboxylic acid transmembrane transporter activity | GO:0046943 | 4.99 |
active transmembrane transporter activity | GO:0022804 | 3.85 |