Gene table of TMEM231 : transmembrane protein 231

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TMEM231	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
PS249000	MECKEL SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	12	NPHP3, TMEM67, TMEM216, B9D2, CC2D2A, B9D1, RPGRIP1L, MKS1, CEP290, TCTN2, KIF14, TMEM231

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46