Meckel-gruber syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Meckel-Gruber syndrome C0265215 B9D1 Causal Pathogenic evidence from ClinVar 21493627 ClinVar
CC2D2A Causal Pathogenic evidence from ClinVar 18950740, 19466712, 19574260, 19777577, 21110233, 22241855, 22425360, 23012439, 26092869, 26477546, 26673778, 27082236 ClinVar
CEP290 Causal Pathogenic evidence from ClinVar 16682970, 16682973, 16909394, 17345604, 17409309, 17564967, 17564974, 17617513, 17964524, 19466712, 20079931, 20683928, 20690115, 21068128, 21110233, 21153841, 21245082, 21602930, 22355252, 22693042, 23188109, 23344081, 23351400, 23559409, 23591405, 23847139, 23954617, 25097241, 25445212, 25818971, 25920555, 26047050, 26092869, 26673778, 27353947, 27491411, 28497568, 29398085, 29588463 ClinVar
CSPP1 Causal Pathogenic evidence from ClinVar - ClinVar
EXOC3L2 Causal Pathogenic evidence from ClinVar - ClinVar
EXOC4 Causal Pathogenic evidence from ClinVar - ClinVar
KIAA0586 Causal Pathogenic evidence from ClinVar - ClinVar
MKS1 Causal Pathogenic evidence from ClinVar 16415886, 17185389, 17377820, 17389183, 17397051, 17437276, 17935508, 19466712, 21110233, 23736532, 24886560, 26092869, 26490104, 27570071, 28497568 ClinVar
RPGRIP1L Causal Pathogenic evidence from ClinVar 17558407, 17558409, 17960139, 18565097, 19430481, 21110233, 21866095, 26092869 ClinVar
TMEM138 Causal Pathogenic evidence from ClinVar - ClinVar
TMEM231 Causal Pathogenic evidence from ClinVar 23349226 ClinVar
TMEM237 Causal Pathogenic evidence from ClinVar - ClinVar
TMEM67 Causal Pathogenic evidence from ClinVar 12368986, 17377820, 17389183, 17397051, 19058225, 19466712, 19508969, 19540516, 19574260, 20232449, 20607301, 21068128, 21110233, 21866095, 23559409, 25920555, 26035863, 26092869, 26729329, 28431631, 28719906 ClinVar
TXNDC15 Causal Pathogenic evidence from ClinVar - ClinVar
B9D2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21763481 -
CEP55 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28295209 -
EVC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LPO Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17397051 -
MARK4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RPGRIP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TCTN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21462283 -
TMEM107 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26123494 -
TMEM216 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20512146, 21110233 -
WDPCP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20671153 -