Property Summary

NCBI Gene PubMed Count 138
PubMed Score 478.24
PubTator Score 257.11

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Neuropathy 261
Hypogonadotropic hypogonadism 89
Abdominal Pain 98
Abnormality of the voice 46
Abnormality of vision 40
Absent brainstem auditory responses 2
Absent reflex 92
Absent tendon reflex 92
Alacrima 9
Anosmia 22
Anterior hypopituitarism 18
Aplasia of the semicircular canal 1
Autonomic dysregulation 6
Axial hypotonia 46
Birthmark 35
Blonde eyebrow 5
Brain hypomyelination 11
Broad flat nasal bridge 236
Cafe-au-Lait Spots 37
Cerebellar Ataxia 304
Cognitive delay 608
Congenital deafness 185
Congenital hypoplasia of breast 25
Congenital hypoplasia of penis 176
Congenital pes cavus 88
Constipation 181
Convex nasal bridge 57
Cryptorchidism 296
Deafness 198
Decreased bone mineral density Z score 31
Decreased fertility 33
Decreased nerve conduction velocity 35
Decreased tendon reflex 122
Delayed Puberty 97
Dilated vestibule of the inner ear 1
Disorder of macula of retina 6
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Dull intelligence 645
Dyschezia 135
Dysmyelination of the brain 6
Epilepsy 792
Erectile abnormalities 16
Eyebrow abnormalities 12
Global developmental delay 608
Grey eyebrow 5
Grey eyelashes 5
Hair hypopigmentation 12
Hearing Loss, Partial 185
Heterochromia iridis 9
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hirschsprung Disease 31
Hypogonadism 173
Hypogonadism, Isolated Hypogonadotropic 71
Hypoplasia of iris 10
Hypoplasia of the semicircular canals 1
Hypothalamic gonadotropin-releasing hormone deficiency 14
Ileus 19
Intellectual disability 1016
Intestinal Obstruction 31
Irregular myelin foldings 4
Lacrimation decreased 3
Leukodystrophy, dysmyelinating 1
Long-segment aganglionic megacolon 1
Low intelligence 645
Megacolon 29
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcolon 4
Microcolon on contrast enema 4
Muscle Hypertonia 88
Muscle Spasticity 195
Muscle hypotonia 571
Nasal bridge wide 236
Neonatal Hypotonia 64
Nystagmus 317
Olfactory lobe absence 6
Paraparesis, Spastic 16
Pectus excavatum 100
Peripheral Neuropathy 134
Peripheral demyelinating neuropathy 7
Peripheral demyelination 16
Peripheral hypomyelination 7
Phenotypic variability 150
Poor school performance 645
Premature canities 24
Prominent nasal bridge 57
Pyramidal sign 29
Reflex, Deep Tendon, Absent 92
Retinal depigmentation 12
Schizophrenia 1160
Seizures 596
Sense of smell impaired 21
Sensorineural Hearing Loss (disorder) 284
Small head 374
Small testicle 75
Spastic Quadriplegia 42
Synophrys 40
Telecanthus 62
Thin hypoplastic alae nasi 51
WAARDENBURG SYNDROME, TYPE IIE 1
White eyebrows 5
White eyelashes 5
White forelock 12
White matter dysmyelination/demyelination 6
Yemenite deaf-blind hypopigmentation syndrome 1
blue iris (physical finding) 17
early onset schizophrenia 3
hearing impairment 199
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Waardenburg's syndrome 17 7.34 3.7
Disease Target Count Z-score Confidence
Hirschsprung's disease 46 6.454 3.2

Expression

  Differential Expression (15)

Disease log2 FC p
Astrocytoma, Pilocytic 2.500 4.1e-07
atypical teratoid / rhabdoid tumor -1.900 1.8e-05
Breast cancer -3.500 2.1e-19
breast carcinoma -1.700 4.3e-17
cutaneous lupus erythematosus -1.300 4.3e-02
Down syndrome 1.400 1.2e-03
ependymoma -1.700 1.7e-02
glioblastoma multiforme -1.100 8.1e-05
group 3 medulloblastoma -3.100 1.2e-03
medulloblastoma, large-cell -1.600 1.0e-03
oligodendroglioma -1.100 8.8e-04
osteosarcoma 1.354 2.5e-03
ovarian cancer 1.500 6.3e-10
psoriasis -1.200 1.1e-07
subependymal giant cell astrocytoma -2.825 1.3e-02

Gene RIF (121)

AA Sequence

MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPV      1 - 70
CIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGK     71 - 140
LWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSA    141 - 210
HLDHRHPGEGSPMSDGNPEHPSGQSHGPPTPPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGE    211 - 280
ISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGV    281 - 350
DAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASG    351 - 420
LYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP                            421 - 466
//

Text Mined References (139)

PMID Year Title