SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease MGD
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease CTD_human
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.620 CausalMutation disease CGI
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.620 Biomarker disease HPO
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.620 Biomarker group HPO
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.620 CausalMutation group CGI
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 GeneticVariation disease CLINVAR
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.420 Biomarker disease CTD_human
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.420 CausalMutation disease CLINVAR
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.420 Biomarker disease HPO
CUI: C0178416
Disease: Hypoplastic anemia
Hypoplastic anemia 		0.300 Biomarker disease CTD_human
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.130 CausalMutation disease CLINVAR
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.120 Biomarker disease HPO
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.120 Biomarker disease HPO
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.110 Biomarker disease HPO
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		0.110 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 Biomarker disease HPO
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		0.110 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0011334
Disease: Dental caries
Dental caries 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013491
Disease: Ecchymosis
Ecchymosis 		0.100 Biomarker phenotype HPO
CUI: C0013595
Disease: Eczema
Eczema 		0.100 Biomarker disease HPO
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.100 Biomarker phenotype HPO