Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.100 Biomarker disease HPO
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		0.100 Biomarker disease HPO
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		0.100 Biomarker disease HPO
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0149651
Disease: Clubbing
Clubbing 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 Biomarker phenotype HPO
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		0.100 Biomarker disease HPO
CUI: C0221261
Disease: Koilonychia
Koilonychia 		0.100 Biomarker phenotype HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.100 Biomarker disease HPO
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		0.100 Biomarker phenotype HPO
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.100 Biomarker disease HPO
CUI: C0263490
Disease: Brittle hair
Brittle hair 		0.100 Biomarker disease HPO
CUI: C0263530
Disease: Longitudinal split nail
Longitudinal split nail 		0.100 Biomarker phenotype HPO