Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 Biomarker disease HPO
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 Biomarker disease CTD_human
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.300 Biomarker disease GENOMICS_ENGLAND
ABDOMINAL OBESITY-METABOLIC SYNDROME 1
0.300 Biomarker disease CTD_human
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
0.130 Biomarker group HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.110 Biomarker group HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
0.100 Biomarker phenotype HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.100 Biomarker group HPO
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal
0.100 Biomarker phenotype HPO
Central nervous system demyelination
0.100 Biomarker disease HPO
CUI: C0554103
Disease: Intestinal malabsorption of fat
Intestinal malabsorption of fat
0.100 Biomarker phenotype HPO
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination
0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
0.100 Biomarker phenotype HPO
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes
0.100 Biomarker phenotype HPO
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
0.100 Biomarker phenotype HPO
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
0.100 Biomarker phenotype HPO
CUI: C3714745
Disease: Malabsorption
Malabsorption
0.100 Biomarker phenotype HPO
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE The polymerase chain reaction (PCR) cannot be used to amplify the breakpoint in the chimaeric BCR-ABL gene in CML and acute leukaemias due to the large variation in the sites of breakpoint in the BCR gene (within a 5.8 kb region) and in the ABL gene (within a 150 kb region). 1317490 1992
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE We therefore sought evidence for analogous point mutations in the ABL gene in patients with Ph-negative, BCR-negative CML (n = 25), Ph-negative ALL (n = 18) and in Ph-positive CML in transformation (n = 28). 1353550 1992
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 GeneticVariation disease BEFREE We therefore sought evidence for analogous point mutations in the ABL gene in patients with Ph-negative, BCR-negative CML (n = 25), Ph-negative ALL (n = 18) and in Ph-positive CML in transformation (n = 28). 1353550 1992