Property Summary

NCBI Gene PubMed Count 152
PubMed Score 1155.03
PubTator Score 346.29

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal behavior 52
Abnormal peripheral nervous system morphology 2
Abnormality of the carotid arteries 1
Abnormality of the face 10
Abnormality of the metaphyses 48
Abnormality of the palate 17
Acquired flat foot 72
Afro-textured hair 13
Aneurysm 7
Aneurysmal disease 6
Aplasia/Hypoplasia of the abdominal wall musculature 17
Atypical scarring of skin 62
Bladder Diverticulum 15
Brachycephaly 88
Broad clavicle 5
Broad cranium shape 88
Broad ribs 12
Byzanthine arch palate 194
Capitate-hamate fusion 5
Carcinoma of bladder 2
Chronic diarrhea 29
Chubby cheeks 50
Coarse hair 31
Congenital anomaly of face 56
Congenital hypoplasia of clavicle 18
Congenital pectus carinatum 52
Congenital pes cavus 88
Convex nasal ridge 37
Coxa valga 22
Coxa valga deformity 22
Cutis Laxa 39
Cutis laxa, x-linked 1
Death in childhood 14
Decreased tendon reflex 122
Developmental regression 95
Diffusely thickened skin 20
Disorder of face 10
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Dry skin 75
Dull intelligence 645
EMG: neuropathic changes 15
Ecchymosis 66
Epilepsy 792
Exostoses 11
Fatigue 182
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Flatfoot 73
Full cheeks 50
Gait, Unsteady 29
Generalized elastolysis 24
Hair hypopigmentation 12
Hanging skin 24
Hemolysis (disorder) 6
Hernia, Inguinal 89
Hiatal Hernia 7
High forehead 102
Hydronephrosis 89
Hyperkyphosis 111
Hyperplasia of cheeks 50
Hypertrophy of cheeks 50
Hypopigmentation disorder 25
Hypoplastic mandible condyle 275
Hypotension, Orthostatic 18
Hypothermia, natural 17
Increased tendency to bruise 66
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intracranial Hemorrhages 16
Intrauterine retardation 176
Joint hyperflexibility 78
Joint laxity 54
Kinky hair texture 13
Knee joint valgus deformity 56
Kyphosis deformity of spine 114
Limited elbow extension 19
Limited knee extension 3
Long face 71
Long neck 3
Long philtrum 137
Loss of developmental milestones 95
Low intelligence 645
Malabsorption 82
Mandibular hypoplasia 275
Mask-like facies 25
Mental Retardation 645
Mental deficiency 645
Mental deterioration in childhood 95
Metaphyseal spurs 2
Metaphyseal widening 22
Micrognathism 275
Muscle Hypertonia 88
Muscle Spasticity 195
Muscle Weakness 170
Muscle hypotonia 571
Nappy hair texture 13
Narrow face 54
Narrow thorax 53
Nausea and vomiting 97
Neonatal Jaundice 30
Neurodevelopmental regression 95
Osteoporosis 363
Pachyderma 20
Paralysed 42
Pectus excavatum 100
Pelvic exostoses 3
Peripheral Neuropathy 134
Persistent open anterior fontanelle 3
Platyspondyly 56
Poor school performance 645
Prolonged neonatal jaundice 17
Prominent back of the head 21
Prominent occiput 21
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Puffy cheeks 50
Pulmonary hypertension 86
Redundant skin 28
Rough hair texture 31
Short stature 531
Short upper arms 16
Skin hyperelastic 32
Slow progression 89
Small head 374
Soft skin 17
Sparse hair 59
Spinal muscular atrophy 34
Stricture of artery 4
Structure of wormian bone 24
Tall forehead 102
Thin face 54
Thin, sparse hair 59
Tortuous carotid artery 1
Umbilical hernia 93
Ureteral obstruction 33
Velvety skin 17
Venous insufficiency 9
Wide skull shape 88
Wooly hair 17
X- linked recessive 110
Xerosis 75
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 3.406 1.7

Expression

  Differential Expression (19)

Disease log2 FC p
acute myeloid leukemia -1.600 2.7e-02
Astrocytoma, Pilocytic 1.500 2.0e-05
atypical teratoid / rhabdoid tumor 1.300 1.2e-04
Breast cancer -1.200 1.2e-09
glioblastoma 1.200 5.8e-06
group 3 medulloblastoma 1.300 4.5e-03
interstitial cystitis -1.100 3.9e-05
intraductal papillary-mucinous adenoma (... 1.800 1.6e-03
intraductal papillary-mucinous carcinoma... 1.300 1.9e-02
lung cancer -1.200 3.6e-02
osteosarcoma 2.078 4.9e-05
ovarian cancer -2.200 1.1e-09
Pick disease 1.200 2.2e-03
pituitary cancer -1.100 3.1e-02
primitive neuroectodermal tumor 1.300 1.6e-03
psoriasis -1.300 9.7e-07
subependymal giant cell astrocytoma 2.265 9.2e-03
tuberculosis -1.300 2.4e-05
urothelial carcinoma -1.200 3.6e-03

Gene RIF (96)

AA Sequence

MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEEKNATIIYDPKLQTPKTLQEAIDDMG      1 - 70
FDAVIHNPDPLPVLTDTLFLTVTASLTLPWDHIQSTLLKTKGVTDIKIYPQKRTVAVTIIPSIVNANQIK     71 - 140
ELVPELSLDTGTLEKKSGACEDHSMAQAGEVVLKMKVEGMTCHSCTSTIEGKIGKLQGVQRIKVSLDNQE    141 - 210
ATIVYQPHLISVEEMKKQIEAMGFPAFVKKQPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTAT    211 - 280
FIIDGMHCKSCVSNIESTLSALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSPGLYRVSITSE    281 - 350
VESTSNSPSSSSLQKIPLNVVSQPLTQETVINIDGMTCNSCVQSIEGVISKKPGVKSIRVSLANSNGTVE    351 - 420
YDPLLTSPETLRGAIEDMGFDATLSDTNEPLVVIAQPSSEMPLLTSTNEFYTKGMTPVQDKEEGKNSSKC    421 - 490
YIQVTGMTCASCVANIERNLRREEGIYSILVALMAGKAEVRYNPAVIQPPMIAEFIRELGFGATVIENAD    491 - 560
EGDGVLELVVRGMTCASCVHKIESSLTKHRGILYCSVALATNKAHIKYDPEIIGPRDIIHTIESLGFEAS    561 - 630
LVKKDRSASHLDHKREIRQWRRSFLVSLFFCIPVMGLMIYMMVMDHHFATLHHNQNMSKEEMINLHSSMF    631 - 700
LERQILPGLSVMNLLSFLLCVPVQFFGGWYFYIQAYKALKHKTANMDVLIVLATTIAFAYSLIILLVAMY    701 - 770
ERAKVNPITFFDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTLDSDNILLSEEQVDVE    771 - 840
LVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSLLICATHVGAD    841 - 910
TTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVFVSIATLLVWIVIGFLNFEIVETYFPGYNRSISR    911 - 980
TETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGAQNGILIKGGEPLEMAHKVKVVVFDKTGTIT    981 - 1050
HGTPVVNQVKVLTESNRISHHKILAIVGTAESNSEHPLGTAITKYCKQELDTETLGTCIDFQVVPGCGIS   1051 - 1120
CKVTNIEGLLHKNNWNIEDNNIKNASLVQIDASNEQSSTSSSMIIDAQISNALNAQQYKVLIGNREWMIR   1121 - 1190
NGLVINNDVNDFMTEHERKGRTAVLVAVDDELCGLIAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKT   1191 - 1260
ARSIASQVGITKVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGTGTDVAIEAAD   1261 - 1330
VVLIRNDLLDVVASIDLSRETVKRIRINFVFALIYNLVGIPIAAGVFMPIGLVLQPWMGSAAMAASSVSV   1331 - 1400
VLSSLFLKLYRKPTYESYELPARSQIGQKSPSEISVHVGIDDTSRNSPKLGLLDRIVNYSRASINSLLSD   1401 - 1470
KRSLNSVVTSEPDKHSLLVGDFREDDDTAL                                           1471 - 1500
//

Text Mined References (155)

PMID Year Title