Property Summary

NCBI Gene PubMed Count 99
PubMed Score 64.15
PubTator Score 1108.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Mucopolysaccharidosis II 5 7.306 3.7
Lung Neoplasms 232 0.0 0.0
Disease Target Count
Abnormality of retinal pigmentation 111
Asthma 385
Big calvaria 147
Blepharoptosis 231
Cervical cord compression 2
Claw hand 26
Coarse facial features 108
Congenital deafness 185
Congenital pes cavus 88
Congestive heart failure 113
Contracture 96
Contracture of joint 93
Deafness 198
Dermatan sulfate excretion in urine 3
Diarrhea 253
Dwarfism 37
Epilepsy 792
Flexion contracture 93
Flexion contractures of joints 93
Full lower lip 64
Hearing Loss, Partial 185
Heart failure 162
Heart valve disease 39
Heparan sulfate excretion in urine 5
Hepatomegaly 285
Hernia, Inguinal 89
Hoarseness 31
Hydrocephalus 152
Hyperkyphosis 111
Hypertrichosis 46
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intestinal pseudo-obstruction 12
Kyphosis deformity of spine 114
Late tooth eruption 61
Long narrow head 75
Macroglossia 65
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
Papilledema 11
Pfaundler-Hurler Syndrome 12
Profound Mental Retardation 31
Profound intellectual disabilities 31
Prominent lower lip 64
Reactive airway disease 21
Recurrent otitis media 42
Relative short stature 13
Retinal pigment epithelial abnormality 111
Seizures 596
Short neck 140
Short stature 531
Short stature, mild 13
Sleep Apnea, Obstructive 10
Splenomegaly 190
Thickened facial skin with coarse facial features 108
Tracheobronchomalacia 2
Turridolichocephaly 75
Umbilical hernia 93
VALVULAR ABNORMALITY 12
Widely spaced teeth 31
X- linked recessive 110
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Mucopolysaccharidosis 26 0.0 4.0

Expression

  Differential Expression (20)

Disease log2 FC p
adult high grade glioma -2.100 5.9e-03
aldosterone-producing adenoma -1.302 3.9e-02
astrocytic glioma -1.400 2.8e-02
Astrocytoma, Pilocytic -1.300 1.2e-02
atypical teratoid / rhabdoid tumor -2.100 2.2e-05
Breast cancer -1.100 2.3e-07
ependymoma -2.200 2.7e-03
glioblastoma -1.300 6.3e-03
group 3 medulloblastoma -2.400 1.4e-02
lung cancer -1.300 2.2e-02
malignant mesothelioma -4.900 1.8e-08
medulloblastoma, large-cell -2.100 2.4e-03
Multiple myeloma 1.171 1.9e-02
oligodendroglioma -2.100 6.6e-14
osteosarcoma 1.149 1.3e-04
ovarian cancer -1.300 6.2e-03
Pick disease -2.100 8.5e-04
primitive neuroectodermal tumor -1.600 5.1e-03
spina bifida -1.103 3.2e-02
subependymal giant cell astrocytoma -1.014 2.4e-02

 GWAS Trait (1)

Gene RIF (39)

AA Sequence

MPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVDDLRPSLGCYGDKLVRSPNIDQLASH      1 - 70
SLLFQNAFAQQAVCAPSRVSFLTGRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPG     71 - 140
ISSNHTDDSPYSWSFPPYHPSSEKYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLE    141 - 210
KMKTSASPFFLAVGYHKPHIPFRYPKEFQKLYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALN    211 - 280
ISVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDDLQLANSTIIAFTSDHGWALGEHGEWAKYSN    281 - 350
FDVATHVPLIFYVPGRTASLPEAGEKLFPYLDPFDSASQLMEPGRQSMDLVELVSLFPTLAGLAGLQVPP    351 - 420
RCPVPSFHVELCREGKNLLKHFRFRDLEEDPYLPGNPRELIAYSQYPRPSDIPQWNSDKPSLKDIKIMGY    421 - 490
SIRTIDYRYTVWVGFNPDEFLANFSDIHAGELYFVDSDPLQDHNMYNDSQGGDLFQLLMP              491 - 550
//

Text Mined References (101)

PMID Year Title