Agammaglobulinemia, x-linked

Disease Term Disease ID Gene Symbol Classification References Source
X-linked agammaglobulinemia 47, C0221026 BTK Causal Pathogenic evidence from ClinVar 7627183, 7633420, 7633429, 7711734, 7809124, 7849006, 7849697, 7849721, 7880320, 7897635, 8013627, 8162018, 8162056, 8594569, 8634718, 8695804, 8723128, 8834236, 9016530, 9260159, 9280283, 9445504, 9545398, 10220140, 10612838, 10678660, 10737994, 10887125, 11102984, 11742281, 11809909, 12405164, 12655572, 15661032, 16160918, 16712653, 19039656, 19904586, 21397315, 26350204, 27512878 ClinVar
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 (disorder) C1845903 SH3KBP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -