Property Summary

NCBI Gene PubMed Count 72
PubMed Score 161.83
PubTator Score 83.18

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Paraganglioma 15
Abnormal mitochondria in muscle tissue 20
Abnormal respiratory patterns 20
Acidosis, Lactic 97
Autosomal recessive predisposition 1442
Babinski Reflex 100
Blepharoptosis 231
CARDIOMYOPATHY, DILATED, 1GG 1
CSF lactate increased 33
Central nervous system demyelination 28
Cerebellar Ataxia 304
Cognitive delay 608
Constipation 181
Contracture 96
Contracture of joint 93
Decreased activity of mitochondrial complex II 3
Degenerative polyarthritis 115
Deglutition Disorders 132
Developmental regression 95
Dull intelligence 645
Dysarthria 192
Dyschezia 135
Dystonia 164
Dystonic disease 106
Epilepsy 792
Failure to gain weight 365
Fatigue 182
Flexion contracture 93
Flexion contractures of joints 93
Gastrointestinal Hemorrhage 52
Gastrointestinal Stromal Tumors 48
Gliosis 56
Global developmental delay 608
Hepatocellular necrosis 14
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperreflexia 209
Hypertrichosis 46
Hypertrophic Cardiomyopathy 117
Impaired cognition 96
Impaired exercise tolerance 42
Increased gastric cancer 21
Increased intramyocellular lipid droplets 13
Increased serum lactate 60
Infantile onset 238
Intellectual disability 1016
Intestinal Obstruction 31
LEFT VENTRICULAR NONCOMPACTION 10 40
LEFT VENTRICULAR NONCOMPACTION 8 40
Lactic acidemia 95
Left ventricular noncompaction 26
Leukoencephalopathies 29
Leukoencephalopathy, progressive 2
Loss of developmental milestones 95
Low Vision 174
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Mental impairment 95
Mood swings 77
Muscle Spasticity 195
Muscle Weakness 170
Muscle hypotonia 571
Myoclonus 74
Nausea and vomiting 97
Neonatal Hypotonia 64
Neurodevelopmental regression 95
Nystagmus 317
Ophthalmoplegia 106
Optic Atrophy 242
Pediatric failure to thrive 365
Phenotypic variability 150
Poor school performance 645
Progressive disorder 142
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Ragged-red fibers 21
Respiratory Failure 104
Respiratory complex II deficiency 3
Retinitis Pigmentosa 226
Sarcoma 62
Schizophrenia 1160
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Stomach Neoplasms 300
Strabismus 270
Stress/infection-induced lactic acidosis 2
Visual Impairment 174
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Cardiomyopathy 116 0.0 4.0

Expression

Synonym

Accession P31040 A8K5J6 B4DJ60 E9PBJ5 Q16395 Q59GW8 Q8IW48 Q9UMY5
Symbols FP
PGL5
SDH1
SDH2
SDHF
CMD1GG

Gene

PANTHER Protein Class (2)

Protein-protein Interaction (8)

Gene RIF (47)

AA Sequence

MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAG      1 - 70
GAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWRWHFYDTVKGSDWLGDQDAIH     71 - 140
YMTEQAPAAVVELENYGMPFSRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSLR    141 - 210
YDTSYFVEYFALDLLMENGECRGVIALCIEDGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMI    211 - 280
TRAGLPCQDLEFVQFHPTGIYGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLE    281 - 350
IREGRGCGPEKDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQ    351 - 420
VLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDKVPPIKPNAGE    421 - 490
ESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKISKLYGDLKHLKTFDRGMVWNT    491 - 560
DLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVRIDEYDYSKPIQGQQKKPFEEHWRKHTLSYV    561 - 630
DVGTGKVTLEYRPVIDKTLNEADCATVPPAIRSY                                        631 - 664
//

Text Mined References (77)

PMID Year Title