Property Summary

NCBI Gene PubMed Count 64
PubMed Score 253.20
PubTator Score 156.23

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Hypothyroidism 122
Absent speech 43
Acquired flat foot 72
Acquired scoliosis 281
Allan-Herndon-Dudley syndrome (AHDS) 1
Aphasia 26
Athetosis 16
Autism Spectrum Disorders 75
Babinski Reflex 100
Bilateral single transverse palmar creases 34
Biparietal narrowing 28
Bunion 26
Cerebellar Ataxia 304
Clonus 18
Congenital anomaly of neck 19
Contracture 96
Contracture of joint 93
Curvature of spine 282
Decreased width of the skull 28
Deformity of neck 19
Delayed CNS myelination 6
Depressed cheekbone 22
Disconjugate eye movements 2
Drooling 27
Dysarthria 192
Fecal Incontinence 7
Feeding difficulties in infancy 175
Flatfoot 73
Flattening of the zygomatic bone 22
Flexion contracture 93
Flexion contractures of joints 93
Generalized amyotrophy 20
Global developmental delay, severe 47
Hallux Valgus 26
Hyperreflexia 209
Hypoplasia of muscle 5
Hypoplasia of the zygomatic bone 22
Hypotrophic cheekbone 22
Irritation - emotion 68
Joint stiffness 84
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Leukodystrophy 55
Macrotia 87
Malformation of the neck 19
Narrow face 54
Narrow forehead 34
Neonatal Hypotonia 64
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Open mouth 45
Pectus excavatum 100
Prenatal onset 139
Progressive mental retardation 37
Prominent antihelix 5
Raised TSH level 8
Severe mental retardation (I.Q. 20-34) 99
Severe psychomotor retardation 47
Sialorrhea 28
Skeletal muscle atrophy 139
Small cheekbone 22
Small head 374
Spastic Paraplegia 42
Spastic Quadriplegia 42
Stahl ear 2
Thin face 54
Underfolded superior helices 2
Upward slant of palpebral fissure 75
Urinary Incontinence 50
X-linked dominant 57
muscle degeneration 139
nonverbal 43
Disease Target Count P-value
malignant mesothelioma 3232 3.3e-10
cystic fibrosis 1696 4.3e-08
breast carcinoma 1638 1.1e-04
adrenocortical carcinoma 1428 4.9e-03
active ulcerative colitis 764 1.6e-02
ependymoma 4679 4.2e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

  Differential Expression (6)

Disease log2 FC p
active ulcerative colitis 1.693 1.6e-02
adrenocortical carcinoma -1.470 4.9e-03
breast carcinoma -1.200 1.1e-04
cystic fibrosis 2.997 4.3e-08
ependymoma 1.300 4.2e-02
malignant mesothelioma -5.900 3.3e-10

Gene RIF (52)

AA Sequence

MALQSQASEEAKGPWQEADQEQQEPVGSPEPESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFE      1 - 70
SERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKNRQVE     71 - 140
FQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCS    141 - 210
FAFQPSLVILGHYFQRRLGLANGVVSAGSSIFSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTY    211 - 280
RPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYVEEEF    281 - 350
SEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFL    351 - 420
GLCDGFFITIMAPIAFELVGPMQASQAIGYLLGMMALPMIAGPPIAGLLRNCFGDYHVAFYFAGVPPIIG    421 - 490
AVILFFVPLMHQRMFKKEQRDSSKDKMLAPDPDPNGELLPGSPNPEEPI                         491 - 539
//

Text Mined References (66)

PMID Year Title