Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia
disease 0.430 None 1.000 0 0 2001 2016
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.430 None 1.000 0 0 2000 2016
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0002871
Disease: Anemia
Anemia
disease 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
Microcytic hypochromic anemia (disorder)
disease 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C1845029
Disease: Nonprogressive cerebellar ataxia
Nonprogressive cerebellar ataxia
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0038379
Disease: Strabismus
Strabismus
disease 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0009024
Disease: Clonus
Clonus
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
group 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype 0.100 None 0 0