Pycnodysostosis

Disease Term Disease ID Gene Symbol Classification References Source
Pseudodystonia C0752208 ALDH5A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17438226 -
GLRA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17114051 -
GNAL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23222958 -
KMT2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PRKRA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18243799 -
THAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23222958 -
TOR1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23222958 -
Pycnodysostosis 763, C0238402 CTSK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8703060, 8938428, 9529353, 10074491, 10491211, 10571690, 10634420, 10878663, 11181082, 12874701, 15070910, 15163881, 17206399, 17397052, 19674475, 21099701, 21217630, 21569238, 22822386, 23175007, 23786531, 24269275, 24767306, 25731711, 27092432, 27604308, 28328823 -