Property Summary

Ligand Count 5
NCBI Gene PubMed Count 76
PubMed Score 140.06
PubTator Score 156.49

Knowledge Summary

Patent (4,650)

TINX Plot

  Disease (6)

Disease Target Count
Epilepsy 792
Intellectual disability 1016
Abnormality of the antitragus 5
Abnormality of the fingernails 51
Abnormality of the metacarpal bones 17
Acquired scoliosis 281
Anteverted nostril 191
Bilateral fifth finger clinodactyly 110
Broad forehead 59
Bulging forehead 66
Cerebellar hypoplasia and atrophy 41
Cerebral atrophy 178
Cognitive delay 608
Congenital deafness 185
Constipation 181
Curvature of little finger 110
Curvature of spine 282
Deafness 198
Developmental regression 95
Dilated ventricles (finding) 121
Dull intelligence 645
Dyschezia 135
Early infantile epileptic encephalopathy with suppression bursts 10
Electroencephalogram abnormal 101
Enophthalmos 75
Epilepsies, Myoclonic 32
Epileptic encephalopathy 26
Fine hair 42
Flexion contracture of proximal interphalangeal joint 75
Full lower lip 64
Gastroesophageal reflux disease 110
Generalized myoclonic seizures 30
Global developmental delay 608
Hearing Loss, Partial 185
Heartburn 78
Hyperventilation 6
Hypoplastic feet 66
Hypsarrhythmia 25
Infantile Spasm 4
Infantile onset 238
Long philtrum 137
Loss of developmental milestones 95
Low intelligence 645
Macrostomia 72
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Movement Disorders 55
Muscle Spasticity 195
Muscle hypotonia 571
Myoclonic Epilepsies, Progressive 44
Myoclonus 74
Nephrolithiasis 56
Neurodevelopmental regression 95
Poor eye contact 12
Poor school performance 645
Profound Mental Retardation 31
Profound intellectual disabilities 31
Progressive microcephaly 32
Prominent forehead 66
Prominent lower lip 64
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Rett Syndrome, Atypical 4
Short hands 50
Small hand 36
Small head 374
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Sunken eyes 63
Tapering fingers (finding) 25
Thick vermilion border 25
Thin hypoplastic alae nasi 51
Wide nose 35
X-linked dominant 57
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.6

Expression

  Differential Expression (17)

Disease log2 FC p
active Crohn's disease 1.324 2.0e-03
adrenocortical carcinoma 1.133 2.6e-02
adult high grade glioma -2.800 6.1e-04
astrocytic glioma -3.200 4.3e-03
Astrocytoma, Pilocytic -2.200 7.9e-05
atypical teratoid / rhabdoid tumor -3.700 1.2e-06
ependymoma -3.000 1.3e-03
glioblastoma -2.300 9.1e-07
group 4 medulloblastoma -2.000 6.1e-03
interstitial cystitis -1.400 2.0e-03
lung adenocarcinoma -1.100 1.1e-06
medulloblastoma, large-cell -2.600 5.0e-04
oligodendroglioma -2.300 6.7e-03
osteosarcoma -1.343 3.7e-05
ovarian cancer -1.200 2.3e-03
pituitary cancer 1.200 9.3e-04
primitive neuroectodermal tumor -2.400 3.3e-04

Gene RIF (69)

AA Sequence

MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRELKMLRTLKQE      1 - 70
NIVELKEAFRRRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPEN     71 - 140
LLISHNDVLKLCDFGFARNLSEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPL    141 - 210
FPGESEIDQLFTIQKVLGPLPSEQMKLFYSNPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKL    211 - 280
DPADRYLTEQCLNHPTFQTQRLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTALQSHHRSNSKDIQNLS    281 - 350
VGLPRADEGLPANESFLNGNLAGASLSPLHTKTYQASSQPGSTSKDLTNNNIPHLLSPKEAKSKTEFDFN    351 - 420
IDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHG    421 - 490
ALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRNEGTLDSRRT    491 - 560
TTRHSKTMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTSPFSSQQRPHRHSMYVTRDKVRAKGLDGSLS    561 - 630
IGQGMAARANSLQLLSPQPGEQLPPEMTVARSSVKETSREGTSSFHTRQKSEGGVYHDPHSDDGTAPKEN    631 - 700
RHLYNDPVPRRVGSFYRVPSPRPDNSFHENNVSTRVSSLPSESSSGTNHSKRQPAFDPWKSPENISHSEQ    701 - 770
LKEKEKQGFFRSMKKKKKKSQTVPNSDSPDLLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLR    771 - 840
KLLHLSSASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPALQLPDGGCDG    841 - 910
RRQRHHSGPQDRRFMLRTTEQQGEYFCCGDPKKPHTPCVPNRALHRPISSPAPYPVLQVRGTSMCPTLQV    911 - 980
RGTDAFSCPTQQSGFSFFVRHVMREALIHRAQVNQAALLTYHENAALTGK                        981 - 1030
//

Text Mined References (90)

PMID Year Title