Disease Term Disease ID Gene Symbol References
Keratosis Follicularis C0022595 ATP2A2 23356892, 19995371, 10441325, 10441323, 20338123, 22909361, 10441324, 20456342, 28035777, 23621824, 10080178, 16733453
BBS2
KIAA0586
TRAPPC3
BBS9
WDR19
TMEM231
DYNC2H1
CEP290
LRRCC1
TMEM67
BBS5
ARL13B