Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hyperinsulinemic hypoglycemia, familial, 1
0.700 Biomarker disease GENOMICS_ENGLAND
Hyperinsulinemic hypoglycemia, familial, 1
0.700 Biomarker disease GENOMICS_ENGLAND
Hyperinsulinemic hypoglycemia, familial, 1
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
0.500 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.400 GeneticVariation disease CLINVAR
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.400 Biomarker disease HPO
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C0027773
Disease: Nesidioblastosis
Nesidioblastosis
0.210 Biomarker disease MGD
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group HPO
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia
0.200 Biomarker disease HPO
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.180 Biomarker disease HPO
Transient neonatal diabetes mellitus
0.140 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures
0.130 Biomarker phenotype HPO
CUI: C0028754
Disease: Obesity
Obesity
0.120 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.110 GeneticVariation disease CLINVAR
CUI: C0022638
Disease: Ketosis
Ketosis
0.110 Biomarker disease HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.110 Biomarker group HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 Biomarker disease HPO
CUI: C0003635
Disease: Apraxias
Apraxias
0.100 Biomarker group HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 Biomarker disease HPO
CUI: C0009421
Disease: Comatose
Comatose
0.100 Biomarker phenotype HPO
CUI: C0011175
Disease: Dehydration
Dehydration
0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.100 Biomarker phenotype HPO