Gene table of MKS1 : Meckel syndrome, type 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MKS1	OMIM link	Number of associated genes	genes
PS213300	JOUBERT SYNDROME	ClinVar	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	link to OMIM	12	NPHP3, TMEM67, TMEM216, B9D2, CC2D2A, B9D1, RPGRIP1L, MKS1, CEP290, TCTN2, KIF14, TMEM231
PS209900	BARDET-BIEDL SYNDROME	OMIM, HUMSAVAR	link to OMIM	23	ARL6, BBS7, KIF7, BBS12, BBS2, BBIP1, TMEM67, LZTFL1, BBS4, TRIM32, MKKS, CCDC28B, WDPCP, CEP290, BBS9, TTC8, BBS10, TTC21B, BBS5, IFT27, MKS1, BBS1, SDCCAG8

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

REACTOME pathway	REACTOME ID	REACTOME IC
Hedgehog 'off' state	R-HSA-5610787	6.19
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
Anchoring of the basal body to the plasma membrane	R-HSA-5620912	6.51
Signaling by Hedgehog	R-HSA-5358351	5.79
Assembly of the primary cilium	R-HSA-5617833	5.44
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

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