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Genes
MKS1
Gene - MKS1
full name
Meckel syndrome, type 1
synonyms
BBS13, MES, MKS, POC12, MKS1, ENSG00000011143
HGNC
HGNC:7121
Entrez Gene
Gene:54903
ENSEMBL
ENSG00000011143
location
chr: 17
start: 56282797
stop: 56296966
strand: -
OMIM
OMIM:609883
: MKS1
OMIM:615990
: Bardet-Biedl syndrome 13
OMIM:617121
: Joubert syndrome 28
OMIM:249000
: Meckel syndrome 1
transcripts
NM_001165927.1
NM_017777.3
pathways
Anchoring of the basal body to the plasma membrane
[NCBI:1268847]
[REACTOME:R-HSA-5620912]
[PUBMED:21816947]
[PUBMED:23747070]
[PUBMED:19575670]
[PUBMED:13978319]
[PUBMED:23348840]
[PUBMED:25047614]
[PUBMED:20819941]
[PUBMED:5661997]
[PUBMED:21422230]
[PUBMED:24469809]
[PUBMED:23530209]
[PUBMED:21725307]
[PUBMED:21680046]
[PUBMED:23351793]
[PUBMED:21427764]
[PUBMED:11676918]
[PUBMED:22653444]
Cilium Assembly
[NCBI:1268846]
[REACTOME:R-HSA-5617833]
[PUBMED:21427764]
[PUBMED:23351793]
[PUBMED:25040720]
[PUBMED:17955020]
[PUBMED:22118932]
[PUBMED:22653444]
[PUBMED:22389062]
[PUBMED:20399632]
[PUBMED:25047619]
[PUBMED:20395968]
[PUBMED:23945166]
[PUBMED:19575670]
[PUBMED:24296415]
[PUBMED:20145001]
[PUBMED:19602418]
Hedgehog 'off' state
[NCBI:1269636]
[REACTOME:R-HSA-5610787]
[PUBMED:21801010]
[PUBMED:20395968]
[PUBMED:23719536]
[PUBMED:21502959]
Organelle biogenesis and maintenance
[NCBI:1268838]
[REACTOME:R-HSA-1852241]
[PUBMED:8608592]
[PUBMED:16103713]
Signal Transduction
[NCBI:1269379]
[REACTOME:R-HSA-162582]
[PUBMED:17604717]
[PUBMED:19648010]
[PUBMED:16260143]
[PUBMED:11742412]
[PUBMED:19536106]
[PUBMED:15863030]
[PUBMED:19379690]
[PUBMED:19458711]
[PUBMED:19935667]
[PUBMED:21252999]
[PUBMED:15520807]
[PUBMED:17496910]
[PUBMED:15450248]
[PUBMED:18043707]
[PUBMED:16939974]
[PUBMED:19762341]
[PUBMED:18483217]
[PUBMED:17084981]
[PUBMED:21781017]
[PUBMED:19619488]
Signaling by Hedgehog
[NCBI:1269633]
[REACTOME:R-HSA-5358351]
[PUBMED:19081070]
[PUBMED:21801010]
[PUBMED:15549094]
[PUBMED:23719536]