Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.710 CausalMutation disease CLINVAR
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		0.710 Biomarker disease CTD_human
CUI: C0028754
Disease: Obesity
Obesity 		0.700 Biomarker disease HPO
CUI: C2676498
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (disorder)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (disorder) 		0.500 Biomarker phenotype CTD_human
CUI: C2676498
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (disorder)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (disorder) 		0.500 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.120 Biomarker phenotype HPO
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		0.120 Biomarker phenotype HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.110 Biomarker disease HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.110 Biomarker group HPO
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.100 Biomarker disease HPO
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.100 Biomarker disease HPO
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.100 Biomarker disease HPO
CUI: C0239803
Disease: Red hair
Red hair 		0.100 Biomarker phenotype HPO
CUI: C0267456
Disease: Villous atrophy of intestine
Villous atrophy of intestine 		0.100 Biomarker disease HPO
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.100 Biomarker disease HPO
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.100 Biomarker disease HPO
CUI: C0271710
Disease: Reactive hypoglycemia
Reactive hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		0.100 Biomarker phenotype HPO
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		0.100 Biomarker disease HPO