Property Summary

NCBI Gene PubMed Count 41
PubMed Score 119.85
PubTator Score 142.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Ehlers-Danlos syndrome type 6 1 0.0 0.0
Kyphosis 5 0.0 0.0
Nevo syndrome 1 0.0 0.0
Disease Target Count
Abnormality of metabolism/homeostasis 134
Abnormality of the hip bone 16
Acquired flat foot 72
Acquired scoliosis 281
Aneurysm, Dissecting 8
Arachnodactyly 49
Atypical scarring of skin 62
Autosomal recessive predisposition 1442
Bladder Diverticulum 15
Blind Vision 111
Blindness, Legal 110
Blue sclera 32
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital clubfoot 109
Congenital scoliosis, progressive 1
Congestive heart failure 113
Corneal diameter decreased 47
Curvature of spine 282
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dissection of aorta 9
Ecchymosis 66
Fetal Membranes, Premature Rupture 5
Flatfoot 73
Furrowed palms and soles 4
Gait abnormality 135
Gastrointestinal Hemorrhage 52
Generalized joint laxity 6
Glaucoma 239
Haemorrhage subcutaneous 10
Heart failure 162
Hernia, Inguinal 89
Hyperkyphosis 111
Inadequate arch length for tooth size 45
Increased tendency to bruise 66
Infectious disease of lung 29
Joint hyperflexibility 78
Joint laxity 54
Keratoconus 113
Kyphosis deformity of spine 114
Low Vision 174
Marfanoid body habitus 11
Microcornea 47
Mitral Valve Prolapse Syndrome 39
Molluscoid pseudotumors 5
Motor delay 147
Multiple pulmonary infections 29
Muscle hypotonia 571
Myopia 176
Neonatal Hypotonia 64
Nevo syndrome (disorder) 1
No development of motor milestones 147
Osteoporosis 363
Recurrent pneumonia 29
Recurrent pulmonary infections 29
Reduced fetal movement 51
Respiratory Depression 10
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal Detachment 51
Retinal Diseases 55
Skin hyperelastic 32
Soft skin 17
Spontaneous rupture of the globe 1
Tall stature 34
Thin skin 47
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Velvety skin 17
Visual Impairment 174
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Ehlers-Danlos syndrome 43 6.389 3.2
Disease Target Count Z-score Confidence
Cervical incompetence 6 3.13 1.6

Expression

  Differential Expression (6)

Disease log2 FC p
diabetes mellitus -1.200 2.8e-02
glioblastoma 1.200 2.2e-04
non-small cell lung cancer 1.166 1.8e-14
ovarian cancer 1.100 2.7e-03
subependymal giant cell astrocytoma 1.137 3.0e-02
tuberculosis 1.900 6.4e-09

Gene RIF (16)

AA Sequence

MRPLLLLALLGWLLLAEAKGDAKPEDNLLVLTVATKETEGFRRFKRSAQFFNYKIQALGLGEDWNVEKGT      1 - 70
SAGGGQKVRLLKKALEKHADKEDLVILFADSYDVLFASGPRELLKKFRQARSQVVFSAEELIYPDRRLET     71 - 140
KYPVVSDGKRFLGSGGFIGYAPNLSKLVAEWEGQDSDSDQLFYTKIFLDPEKREQINITLDHRCRIFQNL    141 - 210
DGALDEVVLKFEMGHVRARNLAYDTLPVLIHGNGPTKLQLNYLGNYIPRFWTFETGCTVCDEGLRSLKGI    211 - 280
GDEALPTVLVGVFIEQPTPFVSLFFQRLLRLHYPQKHMRLFIHNHEQHHKAQVEEFLAQHGSEYQSVKLV    281 - 350
GPEVRMANADARNMGADLCRQDRSCTYYFSVDADVALTEPNSLRLLIQQNKNVIAPLMTRHGRLWSNFWG    351 - 420
ALSADGYYARSEDYVDIVQGRRVGVWNVPYISNIYLIKGSALRGELQSSDLFHHSKLDPDMAFCANIRQQ    421 - 490
DVFMFLTNRHTLGHLLSLDSYRTTHLHNDLWEVFSNPEDWKEKYIHQNYTKALAGKLVETPCPDVYWFPI    491 - 560
FTEVACDELVEEMEHFGQWSLGNNKDNRIQGGYENVPTIDIHMNQIGFEREWHKFLLEYIAPMTEKLYPG    561 - 630
YYTRAQFDLAFVVRYKPDEQPSLMPHHDASTFTINIALNRVGVDYEGGGCRFLRYNCSIRAPRKGWTLMH    631 - 700
PGRLTHYHEGLPTTRGTRYIAVSFVDP                                               701 - 727
//

Text Mined References (46)

PMID Year Title