Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 Biomarker disease CTD_human
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease CLINVAR
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.700 CausalMutation disease CGI
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.700 GeneticVariation disease UNIPROT
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.600 CausalMutation disease CGI
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.500 CausalMutation group CGI
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.400 CausalMutation group CGI
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.400 CausalMutation phenotype CGI
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		0.400 GeneticVariation disease UNIPROT
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.320 GeneticVariation disease UNIPROT
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.220 Biomarker disease MGD
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.120 Biomarker phenotype HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.110 Biomarker disease HPO
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.110 Biomarker disease HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.110 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0019825
Disease: Hoarseness
Hoarseness 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO