Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 CausalMutation CLINVAR We describe a fourth family with XLSA-A and a novel mutation in the ABCB7 gene. 22398176

2012
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 CausalMutation CLINVAR These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome. 10196363

1999
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.740 GeneticVariation CLINVAR

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.430 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0004134
Disease: Ataxia
Ataxia 		0.430 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0009024
Disease: Clonus
Clonus 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845029
Disease: Nonprogressive cerebellar ataxia
Nonprogressive cerebellar ataxia 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker HPO

Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker HPO