Mitochondria Phenome Knowledgebase

Gene Symbol ABCB7
Ensembl ID ENSG00000131269 Entrez 22
Gene Alias ABC7; ASAT; Atm1p; EST140535 Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position Xq12-q13 Subcell PMIDs 9883897 10196363
OMIM Gene 300135 Protein Complex
Swissprot ID O75027 Swissprot Description "ATP-binding cassette, sub-family B, member 7, mitochondrial precursor"
OMIM Disease Sideroblastic anemia and spinocerebellar ataxia (ASAT) [301310]

46 Gene-Feature associations for Gene ABCB7

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Anemia hypochromic; microcytic; sideroblastic; pappenheimer bodies hematologic 4045952 10196363 11050011 11118249 11843825
ABCB7 301310 Arthritis musculoskeletal #11118249
ABCB7 301310 Ataxia cerebellar ataxia; spinocerebellar ataxia; non progressive; dysdiadochokinesia; dysmetria; incoordination; congenital; finger nose ataxia neurologic 4045952 10196363 11050011 11118249 11843825
ABCB7 301310 Bone-marrow-diseases ring sideroblasts; imperfect ring forms hematologic 4045952 10196363 11118249 11843825
ABCB7 301310 Brain-diseases neurologic #11050011 #11118249
ABCB7 301310 Central-nervous-system-diseases neurologic #4045952 #11050011 #11118249 #11843825
ABCB7 301310 Cerebellar-atrophy cerebellar hypoplasia; pons atrophy; medulla atrophy; brain stem atrophy; cerebellar atrophy neurologic 11050011 11118249
ABCB7 301310 Cranial-nerve-diseases cranial nerve palsy; abducens palsy; facial palsy neurologic 11118249
ABCB7 301310 Dementia moderate psychiatric 11118249
ABCB7 301310 Developmental-delay psychomotor regression neurologic 11050011
ABCB7 301310 Diplopia double vision; binocular vision abnormal ophthalmologic 11118249
ABCB7 301310 Dysarthria neurologic 4045952 11050011 11118249 11843825
ABCB7 301310 Dyskinesias dysdiadochokinesia; bilateral neurologic 11118249
ABCB7 301310 Eye-diseases ophthalmologic #11050011 #11118249 #11843825
ABCB7 301310 Fasciculations perioral neurologic 11118249
ABCB7 301310 Gait-disorders gait abnormalities neurologic 4045952 11118249 11843825
ABCB7 301310 Growth-deficiency miscellaneous 11050011
ABCB7 301310 Growth-disorders miscellaneous #11050011
ABCB7 301310 Hematologic-diseases hematologic #4045952 #10196363 #11050011 #11118249 #11843825
ABCB7 301310 Hemoglobin-levels-abnormal hemoglobin deficiency hematologic 11050011 11118249 11843825
ABCB7 301310 Hyperreflexia brisk deep tendon reflexes neurologic 4045952 11118249 11843825
ABCB7 301310 Hyporeflexia hypoactive; deep tendon reflexes abnormal neurologic 11050011
ABCB7 301310 Joint-diseases arthropathy; joint problems musculoskeletal 11118249
ABCB7 301310 Mental-disorders psychiatric #11118249
ABCB7 301310 Metabolic-diseases metabolic #4045952 #11050011
ABCB7 301310 Movement-disorders neurologic #4045952 #11118249 #11843825
ABCB7 301310 Muscle-spasticity mild spasticity neurologic 11118249
ABCB7 301310 Musculoskeletal-diseases musculoskeletal #11118249
ABCB7 301310 Nervous-system-diseases neurologic #4045952 #10196363 #11050011 #11118249 #11843825
ABCB7 301310 Neurobehavioral-manifestations neurologic #4045952 #11050011 #11118249 #11843825
ABCB7 301310 Neurologic-manifestations neurologic #4045952 #10196363 #11050011 #11118249 #11843825
ABCB7 301310 Neuromuscular-manifestations neurologic #11118249
ABCB7 301310 Ocular-motility-disorders abducens palsy; broken pursuit eye movements ophthalmologic #11050011 11118249 #11843825
ABCB7 301310 Osteoarthritis musculoskeletal 11118249
ABCB7 301310 Paleness pallor dermatologic 11050011
ABCB7 301310 Pathologic-nystagmus hypometric saccades and nystagmus ophthalmologic 11050011 11118249 11843825
ABCB7 301310 Porphyrins-abnormal elevated free erythrocyte protoporphyrin metabolic 4045952 11050011
ABCB7 301310 Psychiatric-disorders psychiatric #11118249
ABCB7 301310 Reflexes-abnormal neurologic #4045952 #11050011 #11118249 #11843825
ABCB7 301310 Schizophrenia psychiatric 11118249
ABCB7 301310 Schizophrenia-and-psychotic-disorders psychiatric #11118249
ABCB7 301310 Skin-diseases dermatologic #11050011
ABCB7 301310 Speech-disorders neurologic #4045952 #11050011 #11118249 #11843825
ABCB7 301310 Strabismus squint; concomitant divergent squint ophthalmologic 11118249 11843825
ABCB7 301310 Tremor intention tremor neurologic 4045952 11118249 11843825
ABCB7 301310 Vision-disorders binocular vision abnormal ophthalmologic 11118249

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