Disease Term Disease ID Gene Symbol Classification References Source
Lobstein Disease C0023931 COL1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1445258, 1634225, 1718984, 1737847, 2037280, 2295701, 2794057, 3244312, 3403550, 7691343, 7695699, 7881420, 7942841, 8094076, 8100209, 8218237, 8223589, 8408653, 8456809, 8613526, 8669434, 8757037, 8808594, 9016532, 9067755, 9101304, 9295084, 9443882, 10739762, 10931857, 11317364, 12590186, 15024692, 15024745, 15241796, 15728585, 15741671, 15864348, 15931785, 16638323, 16705691, 16786509, 16879195, 17078022, 17211858, 17875077, 18311573, 18553566, 18670065, 18704262, 18798308, 18845533, 18996919, 19344236, 19358256, 19751715, 21249479, 21438135, 21520333, 21594610, 21667357, 21884818, 22206639, 22565191, 22570641, 22589248, 22753364, 23054245, 23079818, 23529829, 23587214, 23692737, 24147872, 24390061, 24501682, 24668929, 24682174, 25086671, 25436829, 25597651, 25696019, 25944380, 25963598, 26177859, 26604951, 26627451, 26633545, 26712438, 27044453, 27132807, 27484908, 27509835, 27510842, 27519266, 27748872, 28102596, 28116328, 28378289, 28498836, 28810924 -
COL1A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1990009, 2993307, 3372533, 6092353, 7695699, 7860070, 8094076, 8218237, 8456807, 8829649, 9016532, 9099837, 9272740, 11288717, 11359465, 15077201, 15241796, 16705691, 16786509, 16816023, 16879195, 17078022, 18996919, 19344236, 21438135, 21520333, 21667357, 22206639, 22589248, 22753364, 23692737, 23934635, 24342908, 24501682, 24668929, 25450603, 25944380, 26138843, 26177859, 26371943, 26432670, 26471105, 26627451, 27509835, 27510842, 27519266, 27748872, 28378289, 28498836, 28810924, 29595812 -
CRTAP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18566967 -
P3H1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18566967 -
SPARC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1793673 -