Disease ID | Disease name | Source of annotation with TMEM237 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS213300 | JOUBERT SYNDROME | ClinVar, OMIM | link to OMIM | 27 | TCTN1, C5orf42, PDE6D, ARL13B, KIF7, TMEM231, TMEM67, KIAA0586, CC2D2A, MKS1, CEP104, AHI1, CEP41, ZNF423, EXOC8, CEP290, TCTN3, NPHP1, INPP5E, OFD1, TMEM237, TMEM216, KIAA0556, CSPP1, TMEM138, RPGRIP1L, TCTN2 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
carbon-oxygen lyase activity | GO:0016835 | 5.46 |
hydro-lyase activity | GO:0016836 | 5.81 |
magnesium ion binding | GO:0000287 | 4.41 |
ion binding | GO:0043167 | 1.36 |
lyase activity | GO:0016829 | 4.53 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
metal ion binding | GO:0046872 | 1.41 |
phosphopyruvate hydratase activity | GO:0004634 | 7.95 |