Peutz-jeghers syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Peutz-Jeghers syndrome 2869 STK11 Causal Pathogenic evidence from ClinVar - ClinVar
Peutz-Jeghers Syndrome C0031269 STK11 Causal Pathogenic evidence from ClinVar 9288765, 9399902, 9425897, 9428765, 9760200, 9809980, 9837816, 9850045, 9887330, 9934767, 10353780, 10408777, 10441497, 10874301, 11103790, 11389158, 12372054, 12552571, 12865922, 14517248, 14976552, 15121768, 15188174, 15261145, 15863673, 15987703, 16110486, 16287113, 16407375, 16582077, 16707622, 16733653, 17026623, 17319781, 17404884, 17924967, 19681070, 19727776, 19892943, 20393878, 20435009, 20559149, 20581245, 21118512, 21189378, 21411391, 21816872, 22543132, 22942091, 23240097, 23399955, 23415580, 23451056, 23515270, 23718779, 23788249, 24604241, 24652667, 25226294, 26225618, 26607058, 26887594, 26979979, 27705915, 28185117, 28231849 ClinVar
DEFA5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17934846 -