Partington syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Partington syndrome 94083 ARX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME C0796250 ARX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11889467, 12379852 -
BRWD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17668385, 24462886, 25666827, 28475857 -
CASK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17287346, 19165920, 21735175, 21954287, 25886057, 27036546, 28234597, 29067402 -
GRIA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10644433, 12848940, 16436610, 17989220, 22285418, 24721225 -
KDM5C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15586325, 18697827, 26804915 -
PAK3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9731525, 10946356, 12884430, 16014725, 17537723, 17853471, 18523455, 24556213, 25666757, 28126652, 28481730, 29246092 -
POLA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27019227 -
RPL10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16940977, 21567917, 25316788, 25846674, 26290468, 29066376 -