Property Summary

NCBI Gene PubMed Count 180
PubMed Score 50.52
PubTator Score 112.61

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormal middle ear reflexes 1
Abnormal speech discrimination 1
Abnormality of the striatum 1
Absent reflex 92
Absent tendon reflex 92
Acquired scoliosis 281
CSF lactate increased 33
Congenital deafness 185
Congenital pes cavus 88
Curvature of spine 282
DEAFNESS, X-LINKED 5 (disorder) 1
Deafness 198
Decreased nerve conduction velocity 35
Decreased pain sensation 17
Delayed speech and language development 112
Developmental regression 95
Diabetes Mellitus, Insulin-Dependent 48
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Dull intelligence 645
Fasciculation, Tongue 8
Gait, Unsteady 29
Generalized hypotonia 37
Generalized muscle weakness 57
Hearing Loss, Partial 185
Hyperkyphosis 111
Hypokinesia 19
Hypotonia, severe 33
Increased connective tissue 7
Increased serum lactate 60
Increased serum pyruvate 9
Intellectual disability 1016
Irritation - emotion 68
Kyphosis deformity of spine 114
Language Delay 112
Loss of developmental milestones 95
Low intelligence 645
Mental Retardation 645
Mental deficiency 645
Mental deterioration in childhood 95
Neurodevelopmental regression 95
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Peripheral sensorimotor neuropathy 16
Peripheral sensory axonal neuropathy 7
Poor school performance 645
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Psychomotor retardation, moderate 6
Reflex, Deep Tendon, Absent 92
Respiratory Insufficiency 132
Respiratory distress 43
Respiratory function loss 121
Sensory axonal neuropathy 7
Sensory neuropathy 20
Skeletal muscle atrophy 139
Speech Delay 112
Speech impairment 112
Tinnitus 19
Variation in muscle fiber size 16
X- linked recessive 110
hearing impairment 199
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Leigh disease 100 0.0 5.0

Expression

  Differential Expression (4)

Disease log2 FC p
lung adenocarcinoma 1.247 1.9e-08
lung cancer 1.100 1.1e-03
malignant mesothelioma 1.300 1.9e-06
pancreatic ductal adenocarcinoma liver m... -2.478 6.5e-04

Synonym

Accession O95831 A4QPB4 B1ALN1 B2RB08 D3DTE9 Q1L6K4 Q1L6K6 Q2QKE4 Q5JUZ7 Q6I9X6 Q9Y3I3 Q9Y3I4
Symbols AIF
CMT2D
CMTX4
COWCK
DFNX5
NADMR
NAMSD
PDCD8
COXPD6

Gene

PANTHER Protein Class (2)

Protein-protein Interaction (8)

PDB (12)

Gene RIF (110)

AA Sequence

MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLV      1 - 70
LIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGG     71 - 140
TAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSF    141 - 210
YVSAQDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSR    211 - 280
TTLFRKIGDFRSLEKISREVKSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSN    281 - 350
WTMEKVRREGVKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGG    351 - 420
FRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDV    421 - 490
GYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASEITIPPSTPAVPQAPVQGEDY    491 - 560
GKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHEDLNEVAKLFNIHED                     561 - 613
//

Text Mined References (188)

PMID Year Title