| Disease ID | Disease name | Source of annotation with TMC1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS220290 | DEAFNESS, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 60 | CLIC5, KARS, OTOGL, CABP2, HGF, DFNB59, GIPC3, EPS8, MYO3A, CDH23, OTOF, ELMOD3, ESRRB, RDX, GJB2, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, MARVELD2, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, MET, TPRN, DCDC2, LRTOMT, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, SLC26A5, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA |
| PS124900 | DEAFNESS, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 33 | GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, GRHL2, MYH14, TNC, MYH9 |
Download the gene annotation in CSV format
| GO term | GO ID | GO IC |
|---|---|---|
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| calcium ion transmembrane transporter activity | GO:0015085 | 4.89 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| cation channel activity | GO:0005261 | 4.04 |
| substrate-specific channel activity | GO:0022838 | 3.67 |
| calcium channel activity | GO:0005262 | 5.03 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| divalent inorganic cation transmembrane transporter activity | GO:0072509 | 4.62 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| voltage-gated channel activity | GO:0022832 | 4.49 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| channel activity | GO:0015267 | 3.6 |
| voltage-gated cation channel activity | GO:0022843 | 4.83 |
| inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| voltage-gated calcium channel activity | GO:0005245 | 6.0 |
| voltage-gated ion channel activity | GO:0005244 | 4.49 |
| metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
| gated channel activity | GO:0022836 | 3.96 |