Property Summary

NCBI Gene PubMed Count 99
PubMed Score 279.71
PubTator Score 130.72

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
EXOSTOSES, MULTIPLE, TYPE II 1 0.0 0.0
Exostoses, Multiple Hereditary 3 0.0 0.0
Disease Target Count
Chondrosarcoma 21
Abnormality of the femur 6
Abnormality of the humerus 6
Abnormality of the metaphyses 48
Abnormality of the tibia 9
Acquired scoliosis 281
Anteverted nostril 191
Aseptic Necrosis of Bone 8
Aseptic necrosis 8
Big calvaria 147
Bone infarction 8
Bone necrosis 9
Bone pain 42
Brachycephaly 88
Broad cranium shape 88
Broad nasal tip 28
Cervical myelopathy 6
Chromosome 11p11.2 Deletion Syndrome 3
Coarse facial features 108
Cognitive delay 608
Congenital Epicanthus 177
Congenital hypoplasia of penis 176
Constipation 181
Convex nasal bridge 57
Cranial nerve palsies 11
Cryptorchidism 296
Curvature of spine 282
Decreased calcification of skull 10
Defect of skull ossification 10
Dental abnormalities 60
Depressed nasal tip 11
Downturned corners of mouth 48
Dyschezia 135
Epilepsy 792
Exostoses 11
Failure to gain weight 365
Gastroesophageal reflux disease 110
Global developmental delay 608
Heartburn 78
Hip joint varus deformity - observation 24
Hypoplastic mandible condyle 275
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Knee joint valgus deformity 56
Madelung Deformity 5
Madelung-like forearm deformities 2
Mandibular hypoplasia 275
Mental and motor retardation 608
Micrognathism 275
Micromelia 58
Muscle Weakness 170
Muscle hypotonia 571
Nystagmus 317
Orbital separation excessive 244
Overriding toe 10
Pediatric failure to thrive 365
Pelvic exostoses 3
Peripheral nerve compression 2
Poor speech 37
Problems speaking 37
Prominent nasal bridge 57
Protuberances at ends of long bones 2
Radial bowing 13
Rib exostoses 2
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
Scapular exostoses 2
Seizures 596
Short metacarpal 43
Short philtrum 53
Short stature 531
Short ulnae 24
Strabismus 270
Thickened facial skin with coarse facial features 108
Thin hypoplastic alae nasi 51
Tooth Abnormalities 69
ULNAR HYPOPLASIA 24
Wide skull shape 88
Disease Target Count P-value
malignant mesothelioma 3232 4.6e-06
ovarian cancer 8520 2.2e-05
osteosarcoma 7950 2.9e-05
psoriasis 6694 1.2e-03
Multiple myeloma 1332 1.8e-03
astrocytoma 1146 3.7e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Intellectual disability 1016 0.0 4.0

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytoma 1.200 3.7e-02
malignant mesothelioma -1.100 4.6e-06
Multiple myeloma 1.275 1.8e-03
osteosarcoma 2.098 2.9e-05
ovarian cancer 2.100 2.2e-05
psoriasis 1.100 1.2e-03

Protein-protein Interaction (10)

Gene RIF (69)

AA Sequence

MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEKRSIRDVPVVR      1 - 70
LPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGVSVSNTISREYNELLMAISDS     71 - 140
DYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRWDRGTNHLLFNMLPGGPPDYNTALDVPRDRA    141 - 210
LLAGGGFSTWTYRQGYDVSIPVYSPLSAEVDLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESV    211 - 280
LVLDKCTNLSEGVLSVRKRCHKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYIL    281 - 350
PFSEVLDWKRASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYP    351 - 420
YAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVPSLSKLLVVWN    421 - 490
NQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDDIIMLTSDELQFGYEVWREFP    491 - 560
DRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPGDIKNWVDAHMNCEDIA    561 - 630
MNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFASVFGTMPLKVVEHRADPVL    631 - 700
YKDDFPEKLKSFPNIGSL                                                        701 - 718
//

Text Mined References (102)

PMID Year Title