Disease ID | Disease name | Source of annotation with TMPRSS3 | 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 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
endopeptidase activity | GO:0004175 | 3.63 |
serine-type endopeptidase activity | GO:0004252 | 4.4 |
serine hydrolase activity | GO:0017171 | 4.26 |
scavenger receptor activity | GO:0005044 | 5.91 |
catalytic activity | GO:0003824 | 1.05 |
peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
molecular transducer activity | GO:0060089 | 2.32 |
sodium channel regulator activity | GO:0017080 | 6.3 |
cargo receptor activity | GO:0038024 | 5.53 |
receptor activity | GO:0004872 | 2.32 |
channel regulator activity | GO:0016247 | 4.88 |
peptidase activity | GO:0008233 | 3.23 |
molecular function regulator | GO:0098772 | 2.51 |
serine-type peptidase activity | GO:0008236 | 4.27 |