Disease Term Disease ID Gene Symbol Classification References Source
RETINOSCHISIS 1, X-LINKED, JUVENILE C3714753 CDKL5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9326935, 9618178, 9760195, 10220153, 10234514, 10533068, 10589241, 10636421, 10636429, 10636740, 10922205, 10947001, 12417531, 12782284, 12920343, 12928282, 15531314, 15932525, 15937075, 16167295, 16272055, 16361673, 17296904, 17304551, 17515881, 17525175, 17615541, 17631851, 17987333, 18369700, 18541843, 18690710, 18834580, 19093009, 19324861, 19390641, 20061330, 20801516, 20809529, 21701876, 22039241, 22332228, 23453514, 23514609, 23847049, 25525159, 26356828, 27246168, 28272453, 28450823, 29081674 -
RS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9326935, 9618178, 9760195, 10079181, 10220153, 10234514, 10450864, 10533068, 10589241, 10636421, 10636429, 10636740, 10922205, 10947001, 12417531, 12782284, 12920343, 12928282, 15531314, 15932525, 15937075, 16167295, 16272055, 16361673, 17296904, 17304551, 17515881, 17525175, 17615541, 17631851, 17987333, 18369700, 18541843, 18690710, 18834580, 19093009, 19324861, 19390641, 19849666, 20061330, 20801516, 20809529, 21701876, 22039241, 22332228, 23453514, 23514609, 23847049, 25525159, 26356828, 27246168, 27798099, 28272453, 28450823, 29081674 -
Retinoschisis, Juvenile, X-Linked C0271091 RS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16088326, 21738583 -
X-linked retinoschisis 792 RS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -