Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		0.700 CausalMutation disease CLINVAR
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		0.700 Biomarker disease CTD_human
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.700 CausalMutation disease CLINVAR
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.700 Biomarker disease CTD_human
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 CausalMutation disease CLINVAR
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 Biomarker disease CTD_human
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease UNIPROT
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.130 Biomarker disease HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.130 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0016689
Disease: Freckles
Freckles 		0.100 Biomarker phenotype HPO
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		0.100 Biomarker phenotype HPO
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.100 Biomarker disease HPO
CUI: C0037763
Disease: Spasm
Spasm 		0.100 Biomarker phenotype HPO
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		0.100 Biomarker phenotype HPO
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.100 Biomarker phenotype HPO
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.100 Biomarker disease HPO
CUI: C0302845
Disease: MCV - raised
MCV - raised 		0.100 Biomarker phenotype HPO
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.100 Biomarker phenotype HPO
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		0.100 Biomarker phenotype HPO