Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.130 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.130 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0016689
Disease: Freckles
Freckles 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0037763
Disease: Spasm
Spasm 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0302845
Disease: MCV - raised
MCV - raised 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C1859495
Disease: Episodic hemolytic anemia
Episodic hemolytic anemia 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C3806178
Disease: Spotty hypopigmentation
Spotty hypopigmentation 		0.100 Biomarker HPO

Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		0.100 Biomarker HPO