Meckel-Gruber Syndrome

About the Disease
Meckel Syndrome, Type 1, also known as meckel-gruber syndrome, is related to meckel syndrome, type 6 and joubert syndrome 1. An important gene associated with Meckel Syndrome, Type 1 is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney, spinal cord and bone, and related phenotypes are microcephaly and multicystic kidney dysplasia

Common Targets
ETV1 | B4GAT1 | RPGRIP1L | CPLANE1 | BBS2 | B9D1 | TMEM67 | TXNDC15 | RPGRIP1 | TMEM231 | SUPT20H | TMEM216 | CEP290 | MKS1 | DNAH11 | MID1 | TMEM107 | EBP | TCTN3 | EVC2 | NCOA6 | CDH7 | NPHP3 | TCTN1 | SPECC1L | ARHGAP31 | CSPP1 | CC2D2A | B9D2 | GJB2 | AHI1 | ASXL1 | EXOC4 | TCTN2 | TMEM237 | CEP55

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