Bloom syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Bloom syndrome 125 BLM Causal Pathogenic evidence from ClinVar - ClinVar
Bloom Syndrome C0005859 BLM Causal Pathogenic evidence from ClinVar 7585968, 9285778, 9388480, 9758720, 9837821, 9840919, 10069810, 10090915, 10521302, 10569803, 10678659, 10734115, 10812332, 10862105, 10965492, 11101838, 11257107, 12242432, 12242442, 12444098, 15579905, 17407155, 17878217, 18471088, 21113733, 21440839, 22582397, 22885301, 23028338, 23225144, 23276657, 23552953, 24096176, 24118499, 24448499, 24733792, 24932421, 25129257, 25182961, 25399228, 25525159, 25850943, 26247052, 26340805, 26358404, 26546047, 26556299, 26788541, 27175728, 27356891, 27657136, 27959697, 28297620, 28611551, 29098565, 29439820 ClinVar
UNG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2106500 -