Disease ID | Disease name | Source of annotation with TMEM138 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS213300 | JOUBERT SYNDROME | ClinVar, OMIM, HUMSAVAR | 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 |
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