Cerebellar vermis agenesis

Disease Term Disease ID Gene Symbol Classification References Source
Familial aplasia of the vermis C0431399 AHI1 Causal Pathogenic evidence from ClinVar 16155189, 16453322, 22693042, 26092869 ClinVar
ARL13B Causal Pathogenic evidence from ClinVar 18674751 ClinVar
ARMC9 Causal Pathogenic evidence from ClinVar 28625504 ClinVar
B9D1 Causal Pathogenic evidence from ClinVar 21493627, 24886560, 26092869 ClinVar
B9D2 Causal Pathogenic evidence from ClinVar 21763481, 26092869 ClinVar
C2CD3 Causal Pathogenic evidence from ClinVar 26092869 ClinVar
CC2D2A Causal Pathogenic evidence from ClinVar 18950740, 19466712, 19574260, 19777577, 22241855, 22425360, 23012439, 26092869, 26477546, 26485645, 26673778, 27082236 ClinVar
CEP290 Causal Pathogenic evidence from ClinVar 16682970, 16682973, 16909394, 17345604, 17409309, 17564967, 17564974, 17617513, 17964524, 20079931, 20683928, 20690115, 21068128, 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
CLUAP1 Causal Pathogenic evidence from ClinVar 28679688 ClinVar
CPLANE1 Causal Pathogenic evidence from ClinVar 22425360, 22693042, 24178751, 25920555 ClinVar
FAM149B1 Causal Pathogenic evidence from ClinVar 30905400 ClinVar
IFT172 Causal Pathogenic evidence from ClinVar 26092869 ClinVar
INPP5E Causal Pathogenic evidence from ClinVar 19668215, 19668216, 23022135, 23386033, 26748598 ClinVar
KATNIP Causal Pathogenic evidence from ClinVar 26714646 ClinVar
KIAA0586 Causal Pathogenic evidence from ClinVar 26026149, 26096313, 26386247, 26437029 ClinVar
MKS1 Causal Pathogenic evidence from ClinVar 16415886, 17185389, 17377820, 17397051, 17437276, 17935508, 24886560, 26092869, 26490104, 27377014, 27570071, 28497568 ClinVar
PIBF1 Causal Pathogenic evidence from ClinVar 26167768 ClinVar
RCOR1 Causal Pathogenic evidence from ClinVar 26489029 ClinVar
RPGRIP1L Causal Pathogenic evidence from ClinVar 17558407, 17558409, 17960139, 18565097, 19430481, 19574260, 21866095, 26092869 ClinVar
TCTN2 Causal Pathogenic evidence from ClinVar 21565611, 25118024, 26092869 ClinVar
TMEM216 Causal Pathogenic evidence from ClinVar 20036350, 20512146, 22282472, 23351400, 26092869, 26673778, 28497568 ClinVar
TMEM237 Causal Pathogenic evidence from ClinVar 22152675, 22693042 ClinVar
ALX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30269812 -
CEP104 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26477546 -
CEP120 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27208211 -
CEP41 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22246503 -
CSPP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24360803, 24360807, 24360808 -
HYLS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15843405, 18648327, 26830932 -
ITPR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KIAA0753 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26643951, 28220259, 29138412 -
KIF7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21633164 -
LPO Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17397051, 26092869 -
LRRCC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MEF2C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MVK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OFD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16783569, 18546297, 23036093, 24884629, 25356970, 27081566, 28289185 -
PDE6D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POC1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24945461, 29377742 -
RNU4ATAC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TCTN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21725307, 22693042, 26489806, 28631893 -
TCTN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22883145, 25118024 -
TFAP2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMEM138 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22282472 -
TMEM231 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23012439, 23349226 -
TMEM67 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12368986, 16415887, 17160906, 17377820, 17397051, 18327255, 19058225, 19508969, 19540516, 19574260, 20232449, 20607301, 21068128, 21866095, 23559409, 25920555, 26035863, 26092869, 26729329, 28431631, 28719906 -