Property Summary

Ligand Count 14
NCBI Gene PubMed Count 58
PubMed Score 194.27
PubTator Score 103.53

Knowledge Summary

Patent (6,689)

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
KEPPEN-LUBINSKY SYNDROME 1 0.0 0.0
Nerve Degeneration 121 0.0 0.0
Disease Target Count
Abnormal ocular motility 19
Abnormality of the forehead 1
Absence of subcutaneous fat 3
Acquired scoliosis 281
Alcoholic Intoxication, Chronic 289
Bulbous tip of nose 3
Byzanthine arch palate 194
CLEFT CHIN 9
Collapsed nostrils 1
Contracture 96
Contracture of joint 93
Curvature of spine 282
Depressive disorder 409
Dyspnea 76
Exophthalmos 112
Failure to gain weight 365
Familial generalized lipodystrophy 5
Flexion contracture 93
Flexion contractures of joints 93
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay, severe 47
Globe of eye large 20
High, narrow palate 32
Hyperplasia of nasal tip 3
Hyperreflexia 209
Hypertrophy of nasal tip 3
Hypoplastic mandible condyle 275
Increased size of palpebral fissures 9
Infectious disease of lung 29
Inverted V-shaped upper lip 19
Large eyes 9
Loss of facial adipose tissue 4
Mandibular hypoplasia 275
Mask-like facies 25
Mental Depression 333
Micrognathism 275
Multiple pulmonary infections 29
Muscle Hypertonia 88
Naris, slit-like 1
Narrow nose 20
Narrow nostrils 1
Open mouth 45
Opisthotonus 14
Pediatric failure to thrive 365
Pinched bridge of nose 14
Pinched nasal bridge 14
Polyhydramnios 108
Postnatal growth retardation 57
Profound Mental Retardation 31
Profound intellectual disabilities 31
Prominent eyes 96
Prominent globes 96
Prominent nasal tip 3
Protruding eyes 96
Recurrent pneumonia 29
Recurrent pulmonary infections 29
Respiratory Insufficiency 132
Respiratory function loss 121
Severe mental retardation (I.Q. 20-34) 99
Severe psychomotor retardation 47
Shallow orbits 13
Short philtrum 53
Skin Wrinkling 7
Small head 374
Small nostrils 1
Small testicle 75
Spastic tetraparesis 12
Tented mouth 19
Tented upper lip 19
Thin hypoplastic alae nasi 51
Upper airway obstruction 6
Wizened face 9
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
substance-related disorder 162 0.0 3.0
Disease Target Count Z-score Confidence
congenital generalized lipodystrophy 10 0.0 4.0

Expression

  Differential Expression (14)

Disease log2 FC p
adult high grade glioma -2.100 1.6e-04
astrocytic glioma -1.600 2.5e-03
Astrocytoma, Pilocytic -3.000 2.7e-09
atypical teratoid / rhabdoid tumor -3.200 2.6e-13
ependymoma -2.000 2.5e-03
glioblastoma -2.700 6.5e-11
group 3 medulloblastoma -2.900 2.0e-05
lung carcinoma 4.300 1.9e-67
medulloblastoma, large-cell -1.800 3.3e-04
oligodendroglioma -1.400 1.3e-02
pituitary cancer -3.800 1.0e-15
primitive neuroectodermal tumor -2.400 1.9e-04
psoriasis 1.100 1.1e-05
subependymal giant cell astrocytoma -2.092 3.0e-02

Protein-protein Interaction (6)

Gene RIF (36)

AA Sequence

MAKLTESMTNVLEGDSMDQDVESPVAIHQPKLPKQARDDLPRHISRDRTKRKIQRYVRKDGKCNVHHGNV      1 - 70
RETYRYLTDIFTTLVDLKWRFNLLIFVMVYTVTWLFFGMIWWLIAYIRGDMDHIEDPSWTPCVTNLNGFV     71 - 140
SAFLFSIETETTIGYGYRVITDKCPEGIILLLIQSVLGSIVNAFMVGCMFVKISQPKKRAETLVFSTHAV    141 - 210
ISMRDGKLCLMFRVGDLRNSHIVEASIRAKLIKSKQTSEGEFIPLNQTDINVGYYTGDDRLFLVSPLIIS    211 - 280
HEINQQSPFWEISKAQLPKEELEIVVILEGMVEATGMTCQARSSYITSEILWGYRFTPVLTLEDGFYEVD    281 - 350
YNSFHETYETSTPSLSAKELAELASRAELPLSWSVSSKLNQHAELETEEEEKNLEEQTERNGDVANLENE    351 - 420
SKV                                                                       421 - 423
//

Text Mined References (58)

PMID Year Title