Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859495
Disease: Episodic hemolytic anemia
Episodic hemolytic anemia 		0.100 Biomarker phenotype HPO
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		0.100 Biomarker disease HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3806178
Disease: Spotty hypopigmentation
Spotty hypopigmentation 		0.100 Biomarker phenotype HPO
CUI: C4023620
Disease: Blood group antigen abnormality
Blood group antigen abnormality 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.020 Biomarker disease BEFREE Heparan sulfates were isolated from the urine of normal individuals and patients with genetic mucopolysaccharidoses after exhaustive digestion with chondroitinase ABC. 124636 1975
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.030 GeneticVariation disease BEFREE Geometries of platelets in citrated PRP obtained from normal donors (17) and donors (5) with a hereditary dominant giant platelet syndrome, herein referred to as "Montreal platelet syndrome" (MPS), are compared. 759524 1979
CUI: C0398642
Disease: Montreal platelet syndrome
Montreal platelet syndrome 		0.020 Biomarker disease BEFREE Geometries of platelets in citrated PRP obtained from normal donors (17) and donors (5) with a hereditary dominant giant platelet syndrome, herein referred to as "Montreal platelet syndrome" (MPS), are compared. 759524 1979
CUI: C0023646
Disease: Lichen Planus
Lichen Planus 		0.010 Biomarker disease BEFREE HLA-ABC antigens were determined in 89 patients with biopsy-confirmed lichen planus, and the HLA antigen frequencies were compared with those in 1967 controls. 87076 1979
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.100 Biomarker disease BEFREE Antisera to bovine serum albumin (BSA) react with biosynthetic products of the LAN-1 neuroblastoma cell line. 6848198 1983
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE Antisera to bovine serum albumin (BSA) react with biosynthetic products of the LAN-1 neuroblastoma cell line. 6848198 1983
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.100 Biomarker disease BEFREE Antisera to bovine serum albumin (BSA) react with biosynthetic products of the LAN-1 neuroblastoma cell line. 6848198 1983
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 Biomarker disease BEFREE Differences in capping behavior between immunological phenotypes in childhood acute lymphoblastic leukemia. A study with ConA and an anti-HLA-ABC backbone. 6433638 1984
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.010 Biomarker disease BEFREE HLA-ABC and DR antigens in celiac disease. A study in a pediatric Italian population. 6422636 1984
CUI: C2919706
Disease: Idiopathic rapidly progressive glomerulonephritis
Idiopathic rapidly progressive glomerulonephritis 		0.010 Biomarker disease BEFREE Frequencies of the HLA antigens ABC, DR and MT, as well as of the properdin factor alleles were determined in 24 unrelated patients presenting with immune complex mediated idiopathic rapidly progressive glomerulonephritis (RPGN) type II. 6233449 1984
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.030 Biomarker disease BEFREE Platelet size on blood smear is compared with platelet size and shape in suspension (i.e., whole blood and citrated platelet-rich plasma [PRP]) for normal donors and 16 patients with hereditary "giant" platelet syndromes (HGPS), including Bernard-Soulier syndrome (BSS) (seven patients), Montreal platelet syndrome (MPS) (three patients), May-Hegglin anomaly (one patient) and Rafael platelet defect (one patient). 4031633 1985
CUI: C0398642
Disease: Montreal platelet syndrome
Montreal platelet syndrome 		0.020 Biomarker disease BEFREE In this manner it was shown that for all donors with BSS and MPS, the shape-changed platelets are disproportionately larger than the D. In contrast, in the remaining patients with HGPS the size of the shape-changed platelets was consistent with the size predicted from the D. Examination of VT for MPS as a function of time after addition of 10 mumol/L adenosine diphosphate to PRP revealed an abnormal time course, thereby pointing to an abnormality in the mechanisms that regulate platelet size during shape change. 4031633 1985
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		0.010 GeneticVariation phenotype BEFREE Platelet size on blood smear is compared with platelet size and shape in suspension (i.e., whole blood and citrated platelet-rich plasma [PRP]) for normal donors and 16 patients with hereditary "giant" platelet syndromes (HGPS), including Bernard-Soulier syndrome (BSS) (seven patients), Montreal platelet syndrome (MPS) (three patients), May-Hegglin anomaly (one patient) and Rafael platelet defect (one patient). 4031633 1985
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		0.010 GeneticVariation disease BEFREE Platelet size on blood smear is compared with platelet size and shape in suspension (i.e., whole blood and citrated platelet-rich plasma [PRP]) for normal donors and 16 patients with hereditary "giant" platelet syndromes (HGPS), including Bernard-Soulier syndrome (BSS) (seven patients), Montreal platelet syndrome (MPS) (three patients), May-Hegglin anomaly (one patient) and Rafael platelet defect (one patient). 4031633 1985
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.020 GeneticVariation disease BEFREE Glycosaminoglycans in urine from patients with various mucopolysaccharidoses were digested with chondroitin ABC lyase (EC 4.2.2.4) or chondroitin AC lyase (EC 4.2.2.5), then converted into fluorescent pyridylamino derivatives and analyzed by "high-performance" liquid chromatography. 3079683 1986
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.010 Biomarker disease BEFREE Chromatograms of the chondroitin ABC lyase digests of samples from nine patients with Hunter's syndrome all showed a major peak for unsaturated disaccharide-4-sulfate, derived from dermatan sulfate, and another specific but unidentified peak (peak x). 3079683 1986
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.010 GeneticVariation disease BEFREE In a population based study of 68 individuals with atopic dermatitis and 94 control individuals it was not possible to demonstrate any significant associations between the disease and gene frequencies of HLA-ABC, ABO, MN, Rhesus, Kell, Duffy, Hp, Gc, Gm, Km/Inv, PGM, AcP, GPT, EsD, GLO, AK, PGD, ADA, and GALT/Gt. 3590141 1987
CUI: C0013595
Disease: Eczema
Eczema 		0.010 GeneticVariation disease BEFREE In a population based study of 68 individuals with atopic dermatitis and 94 control individuals it was not possible to demonstrate any significant associations between the disease and gene frequencies of HLA-ABC, ABO, MN, Rhesus, Kell, Duffy, Hp, Gc, Gm, Km/Inv, PGM, AcP, GPT, EsD, GLO, AK, PGD, ADA, and GALT/Gt. 3590141 1987
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		0.010 Biomarker group BEFREE The presence of herpes simplex virus (HSV) and cytomegalovirus (CMV) nucleic acid and/or antigen was demonstrated in the coronary arteries and thoracic aortas of young trauma victims by the in situ DNA hybridization and ABC immunoperoxidase methods, respectively. 2827495 1988