Property Summary

NCBI Gene PubMed Count 350
PubMed Score 1236.31
PubTator Score 923.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Cutis Laxa 39
Myopia 176
Glaucoma 239
Pulmonary emphysema 48
Abnormality of cardiac ventricle 1
Abnormality of position of teeth 8
Abnormality of the iris 14
Acquired flat foot 72
Acquired scoliosis 281
Adducted thumb 22
Aneurysm of ascending aorta 5
Anteverted nostril 191
Aortic Valve Insufficiency 40
Aortic aneurysm, familial thoracic 3 13
Aortic root dilatation 11
Aortic valve stenosis 28
Ascending aorta dilatation 5
Ascending aortic dissection 13
Blind Vision 111
Blindness, Legal 110
Blue sclera 32
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Broad flat nasal bridge 236
Broad metacarpals 5
Broad metatarsals 5
Broad phalanges of the hand 2
Broad ribs 12
Broad skull 2
Bulbous nasal tip 48
Bulbous nose 48
Bullet vertebral body 17
Byzanthine arch palate 194
Cardiomegaly 116
Cataract 297
Chest Pain 38
Chubby cheeks 50
Class III malocclusion 78
Concave bridge of nose 195
Cone-shaped epiphyses 24
Congenital keratoglobus 14
Congenital pectus carinatum 52
Congenital pes cavus 88
Congestive heart failure 113
Contracture 96
Contracture of joint 93
Corneal diameter increased 13
Coronary artery disease 268
Crumpled ear 3
Curvature of spine 282
Cutis marmorata 32
Cystic medial necrosis of aorta 13
Decreased joint mobility 53
Decreased muscle mass 28
Decreased nerve conduction velocity 35
Decreased projection of maxilla 66
Decreased subcutaneous adipose tissue 13
Decreased tendon reflex 122
Deep philtrum 21
Deficiency of upper jaw bones 66
Delayed bone age 136
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed philtrum 21
Descending aortic dissection 13
Diffusely thickened skin 20
Dilatation of aorta 9
Dilatation of pulmonary artery, unspecified 2
Dissection of aorta 9
Downward slant of palpebral fissure 158
Dural ectasia 4
Dwarfism 37
Dyspnea on exertion 24
Dyspnea, Paroxysmal 13
Echocardiogram abnormal 2
Enlarged thorax 18
Enophthalmos 75
Eyebrow abnormalities 12
Feeding difficulties 127
Fetal overgrowth 16
Fifth metacarpal notched on ulnar side 1
Flatfoot 73
Flexion contracture 93
Flexion contractures of joints 93
Full cheeks 50
Full lower lip 64
GEMSS syndrome 1
Geleophysic dysplasia 3
Generalized elastolysis 24
Generalized overgrowth 16
Genu recurvatum 12
Hammer Toe 23
Hanging skin 24
Heart failure 162
Heart murmur 5
Hepatomegaly 285
High, narrow palate 32
Hoarseness 31
Hyperplasia of cheeks 50
Hypertensive disease 292
Hypertrophy of cheeks 50
Hypertrophy of lower jaw 78
Hypoplasia of iris 10
Hypoplasia of the maxilla 66
Hypoplasia of thumb 26
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypoxemia 2
Idiopathic pulmonary arterial hypertension 40
Impaired cognition 96
Impaired left ventricular function 16
Inadequate arch length for tooth size 45
Incisional hernia 1
Increase in blood pressure 119
Increased arm span 2
Increased axial globe length 2
Increased size of mandible 78
Iridodonesis 1
Joint stiffness 84
Kyphoscoliosis deformity of spine 60
Lack of skin elasticity 10
Left-Sided Heart Failure 16
Lens Opacities 231
Linear atrophy 15
Lipoatrophy 19
Loeys-Dietz Aortic Aneurysm Syndrome 13
Long eyelashes 37
Long face 71
Long narrow head 75
Long philtrum 137
Long toes 5
Low Birth Weights 69
Low set ears 181
Lumbar lordosis 35
Malar flattening 129
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Marfanoid body habitus 11
Maxillary retrognathia 66
Medial rotation of the medial malleolus 1
Mental impairment 95
Micrognathism 275
Microstomia 78
Mild Mental Retardation 70
Misalignment of teeth 8
Mitral Valve Prolapse Syndrome 39
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Mitral valve stenosis 14
Motor delay 147
Muscle hypotonia 571
Narrow cranium shape 75
Narrow face 54
Narrow head shape 75
Narrow palate 20
Narrow skull shape 75
Nasal bridge wide 236
No development of motor milestones 147
OVERLAP CONNECTIVE TISSUE DISEASE 1
Orbital separation excessive 244
Overgrowth 16
Ovoid vertebral bodies 17
Pachyderma 20
Patent ductus arteriosus 90
Pectus excavatum 100
Pneumothorax 23
Potato nose 48
Premature calcification of mitral annulus 1
Premature osteoarthritis 6
Prominent lower lip 64
Proportionate short stature 4
Protrusio acetabuli 7
Puffy cheeks 50
Pulmonary Stenosis 45
Pulmonary hypertension 86
Range of joint movement increased 32
Recurrent abdominal hernia 1
Respiratory Distress Syndrome 15
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal Detachment 51
Retrognathia 54
Retrusion of upper jaw bones 66
Round face 45
Round, full face 45
Severe myopia 22
Shallow anterior chamber of eye 4
Shallow orbits 13
Short hands 50
Short metacarpal 43
Short nose 132
Short phalanx of finger 32
Short stature 531
Short tubular bones 22
Shprintzen-Goldberg syndrome 2
Small for gestational age (disorder) 69
Small hand 36
Small nose 132
Small testicle 75
Smooth philtrum 43
Spade-like hand 16
Spinal canal stenosis 12
Spondylolisthesis 22
Sternal anomalies 19
Stiff skin 3
Stretched skin 10
Sunken eyes 63
Talipes Calcaneovarus 2
Tall stature 34
Thin bony cortex 9
Thin face 54
Thin upper lip vermilion 67
Toe-walking gait 4
Tooth Abnormalities 69
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Tricuspid Valve Prolapse 3
Tricuspid valve insufficiency 14
Turridolichocephaly 75
Ventricular Septal Defects 119
Wide skull shape 88
Widened metatarsal shaft 5
mandibular excess (physical finding) 78
pulmonary arterial hypertension 76
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.4
Kidney cancer 2613 0.0 1.0
Disease Target Count Z-score Confidence
Aortic aneurysm 38 5.827 2.9
Organ system cancer 18 0.0 0.9
Disease Target Count Z-score Confidence
Lens subluxation 12 4.051 2.0

Expression

  Differential Expression (32)

Disease log2 FC p
acute myeloid leukemia -1.700 3.0e-02
aldosterone-producing adenoma -1.027 2.6e-02
Astrocytoma, Pilocytic 1.100 4.4e-03
Atopic dermatitis -1.900 1.0e-03
atypical teratoid / rhabdoid tumor 2.000 2.3e-05
Becker muscular dystrophy 1.276 9.5e-03
Breast cancer 2.500 2.6e-02
diabetes mellitus -1.100 3.0e-02
Duchenne muscular dystrophy 1.090 3.9e-06
ductal carcinoma in situ -1.600 2.9e-02
ependymoma 1.500 7.2e-03
fascioscapulohumeral muscular dystrophy 1.207 1.6e-04
gastric carcinoma 2.000 1.1e-02
glioblastoma 1.100 1.0e-02
interstitial cystitis 1.400 2.5e-04
intraductal papillary-mucinous adenoma (... -1.600 1.7e-02
invasive ductal carcinoma -2.100 1.5e-02
juvenile dermatomyositis 1.325 2.4e-07
limb girdle muscular dystrophy 2A 1.271 1.9e-03
lung carcinoma -1.700 5.5e-13
malignant mesothelioma -6.400 5.1e-09
medulloblastoma 1.100 1.5e-02
nasopharyngeal carcinoma 1.500 1.7e-04
non primary Sjogren syndrome sicca -1.200 2.9e-02
osteosarcoma 1.829 6.7e-03
ovarian cancer -3.100 2.7e-05
pancreatic cancer 2.000 1.3e-02
pituitary cancer 1.400 5.1e-03
primary pancreatic ductal adenocarcinoma 1.131 2.3e-02
psoriasis 1.500 6.9e-03
subependymal giant cell astrocytoma 1.362 3.8e-02
ulcerative colitis 2.200 7.0e-04

Gene RIF (281)

AA Sequence

MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCGSRYNAYCCPG      1 - 70
WKTLPGGNQCIVPICRHSCGDGFCSRPNMCTCPSGQIAPSCGSRSIQHCNIRCMNGGSCSDDHCLCQKGY     71 - 140
IGTHCGQPVCESGCLNGGRCVAPNRCACTYGFTGPQCERDYRTGPCFTVISNQMCQGQLSGIVCTKTLCC    141 - 210
ATVGRAWGHPCEMCPAQPHPCRRGFIPNIRTGACQDVDECQAIPGLCQGGNCINTVGSFECKCPAGHKLN    211 - 280
EVSQKCEDIDECSTIPGICEGGECTNTVSSYFCKCPPGFYTSPDGTRCIDVRPGYCYTALTNGRCSNQLP    281 - 350
QSITKMQCCCDAGRCWSPGVTVAPEMCPIRATEDFNKLCSVPMVIPGRPEYPPPPLGPIPPVLPVPPGFP    351 - 420
PGPQIPVPRPPVEYLYPSREPPRVLPVNVTDYCQLVRYLCQNGRCIPTPGSCRCECNKGFQLDLRGECID    421 - 490
VDECEKNPCAGGECINNQGSYTCQCRAGYQSTLTRTECRDIDECLQNGRICNNGRCINTDGSFHCVCNAG    491 - 560
FHVTRDGKNCEDMDECSIRNMCLNGMCINEDGSFKCICKPGFQLASDGRYCKDINECETPGICMNGRCVN    561 - 630
TDGSYRCECFPGLAVGLDGRVCVDTHMRSTCYGGYKRGQCIKPLFGAVTKSECCCASTEYAFGEPCQPCP    631 - 700
AQNSAEYQALCSSGPGMTSAGSDINECALDPDICPNGICENLRGTYKCICNSGYEVDSTGKNCVDINECV    701 - 770
LNSLLCDNGQCRNTPGSFVCTCPKGFIYKPDLKTCEDIDECESSPCINGVCKNSPGSFICECSSESTLDP    771 - 840
TKTICIETIKGTCWQTVIDGRCEININGATLKSQCCSSLGAAWGSPCTLCQVDPICGKGYSRIKGTQCED    841 - 910
IDECEVFPGVCKNGLCVNTRGSFKCQCPSGMTLDATGRICLDIRLETCFLRYEDEECTLPIAGRHRMDAC    911 - 980
CCSVGAAWGTEECEECPMRNTPEYEELCPRGPGFATKEITNGKPFFKDINECKMIPSLCTHGKCRNTIGS    981 - 1050
FKCRCDSGFALDSEERNCTDIDECRISPDLCGRGQCVNTPGDFECKCDEGYESGFMMMKNCMDIDECQRD   1051 - 1120
PLLCRGGVCHNTEGSYRCECPPGHQLSPNISACIDINECELSAHLCPNGRCVNLIGKYQCACNPGYHSTP   1121 - 1190
DRLFCVDIDECSIMNGGCETFCTNSEGSYECSCQPGFALMPDQRSCTDIDECEDNPNICDGGQCTNIPGE   1191 - 1260
YRCLCYDGFMASEDMKTCVDVNECDLNPNICLSGTCENTKGSFICHCDMGYSGKKGKTGCTDINECEIGA   1261 - 1330
HNCGKHAVCTNTAGSFKCSCSPGWIGDGIKCTDLDECSNGTHMCSQHADCKNTMGSYRCLCKEGYTGDGF   1331 - 1400
TCTDLDECSENLNLCGNGQCLNAPGGYRCECDMGFVPSADGKACEDIDECSLPNICVFGTCHNLPGLFRC   1401 - 1470
ECEIGYELDRSGGNCTDVNECLDPTTCISGNCVNTPGSYICDCPPDFELNPTRVGCVDTRSGNCYLDIRP   1471 - 1540
RGDNGDTACSNEIGVGVSKASCCCSLGKAWGTPCEMCPAVNTSEYKILCPGGEGFRPNPITVILEDIDEC   1541 - 1610
QELPGLCQGGKCINTFGSFQCRCPTGYYLNEDTRVCDDVNECETPGICGPGTCYNTVGNYTCICPPDYMQ   1611 - 1680
VNGGNNCMDMRRSLCYRNYYADNQTCDGELLFNMTKKMCCCSYNIGRAWNKPCEQCPIPSTDEFATLCGS   1681 - 1750
QRPGFVIDIYTGLPVDIDECREIPGVCENGVCINMVGSFRCECPVGFFYNDKLLVCEDIDECQNGPVCQR   1751 - 1820
NAECINTAGSYRCDCKPGYRFTSTGQCNDRNECQEIPNICSHGQCIDTVGSFYCLCHTGFKTNDDQTMCL   1821 - 1890
DINECERDACGNGTCRNTIGSFNCRCNHGFILSHNNDCIDVDECASGNGNLCRNGQCINTVGSFQCQCNE   1891 - 1960
GYEVAPDGRTCVDINECLLEPRKCAPGTCQNLDGSYRCICPPGYSLQNEKCEDIDECVEEPEICALGTCS   1961 - 2030
NTEGSFKCLCPEGFSLSSSGRRCQDLRMSYCYAKFEGGKCSSPKSRNHSKQECCCALKGEGWGDPCELCP   2031 - 2100
TEPDEAFRQICPYGSGIIVGPDDSAVDMDECKEPDVCKHGQCINTDGSYRCECPFGYILAGNECVDTDEC   2101 - 2170
SVGNPCGNGTCKNVIGGFECTCEEGFEPGPMMTCEDINECAQNPLLCAFRCVNTYGSYECKCPVGYVLRE   2171 - 2240
DRRMCKDEDECEEGKHDCTEKQMECKNLIGTYMCICGPGYQRRPDGEGCVDENECQTKPGICENGRCLNT   2241 - 2310
RGSYTCECNDGFTASPNQDECLDNREGYCFTEVLQNMCQIGSSNRNPVTKSECCCDGGRGWGPHCEICPF   2311 - 2380
QGTVAFKKLCPHGRGFMTNGADIDECKVIHDVCRNGECVNDRGSYHCICKTGYTPDITGTSCVDLNECNQ   2381 - 2450
APKPCNFICKNTEGSYQCSCPKGYILQEDGRSCKDLDECATKQHNCQFLCVNTIGGFTCKCPPGFTQHHT   2451 - 2520
SCIDNNECTSDINLCGSKGICQNTPGSFTCECQRGFSLDQTGSSCEDVDECEGNHRCQHGCQNIIGGYRC   2521 - 2590
SCPQGYLQHYQWNQCVDENECLSAHICGGASCHNTLGSYKCMCPAGFQYEQFSGGCQDINECGSAQAPCS   2591 - 2660
YGCSNTEGGYLCGCPPGYFRIGQGHCVSGMGMGRGNPEPPVSGEMDDNSLSPEACYECKINGYPKRGRKR   2661 - 2730
RSTNETDASNIEDQSETEANVSLASWDVEKTAIFAFNISHVSNKVRILELLPALTTLTNHNRYLIESGNE   2731 - 2800
DGFFKINQKEGISYLHFTKKKPVAGTYSLQISSTPLYKKKELNQLEDKYDKDYLSGELGDNLKMKIQVLL   2801 - 2870
H//

Text Mined References (364)

PMID Year Title