Property Summary

Ligand Count 353
NCBI Gene PubMed Count 467
PubMed Score 1294.70
PubTator Score 907.60

Knowledge Summary

Patent (194,124)

TINX Plot

  Disease (8)

Disease Target Count
Craniosynostosis 74
Cryptorchidism 296
Syndactyly 88
Lipoma 32
Abnormality of body height 13
Abnormality of cardiovascular system morphology 23
Abnormality of the clavicle 14
Abnormality of the nasopharynx 9
Abnormality of the voice 46
Abnormally small eyeball 97
Abnormally-shaped vertebrae 31
Absence of pubertal development 17
Absence of secondary sex characteristics 22
Agenesis of corpus callosum 83
Agenesis of teeth 21
Alopecia 115
Ankylosis of the elbow joint 7
Anosmia 22
Anterior chamber anomalies 4
Anterior hypopituitarism 18
Anterior pituitary hypoplasia 13
Anteverted nostril 191
Antley-Bixler Syndrome, Autosomal Dominant 2
Anxiety 136
Anxiety disease 113
Arachnoid Cysts 5
Arnold Chiari Malformation 11
Atrial Septal Defects 85
Benign neoplasm of eye, unspecified 3
Bicoronal synostosis 3
Bipolar Disorder 666
Blepharoptosis 231
Bowing of the long bones 31
Brachycephaly 88
Brachyturricephaly 4
Broad cranium shape 88
Broad feet 19
Broad flat nasal bridge 236
Broad hallux 29
Broad hallux phalanx 8
Broad metacarpals 5
Broad metatarsals 5
Broad thumbs 28
Bronchomalacia 7
Byzanthine arch palate 194
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 1
Calcaneonavicular fusion 2
Cartilaginous trachea 2
Cerebellar Hypoplasia 61
Choanal Atresia 42
Choanal stenosis 11
Chordee 6
Class III malocclusion 78
Claw hand 26
Cloverleaf cranium shape 6
Cloverleaf skull 7
Cognitive delay 608
Coloboma of eyelid 15
Concave bridge of nose 195
Congenital cerebral hernia 21
Congenital hypoplasia of breast 25
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 176
Congenital omphalocele 20
Coronal craniosynostosis 14
Cortical Dysplasia 13
Dandy-Walker Syndrome 39
Decreased bone mineral density Z score 31
Decreased fertility 33
Decreased projection of maxilla 66
Decreased projection of midface 105
Decreased size of eyeball 97
Decreased size of teeth 62
Decreased testosterone in males 28
Decreased width of tooth 59
Deficiency of upper jaw bones 66
Delayed Puberty 97
Delayed bone age 136
Delayed speech and language development 112
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dermoid choristoma of eye proper 3
Disproportionately short middle phalanges 6
Downward slant of palpebral fissure 158
Dull intelligence 645
Dwarfism 37
Epilepsy 792
Erectile abnormalities 16
Erectile dysfunction 32
Eunuchoid habitus 14
Exophthalmos 112
Failure of tooth eruption 1
Failure to gain weight 365
Failure to thrive in infancy 32
Female hypogonadism syndrome 25
Fetal Growth Retardation 189
Frontal bossing 157
Generalized osteopenia 99
Global developmental delay 608
Gynecomastia 64
Hallux Varus 3
Hemiplegia and hemiparesis 38
Hernia, Inguinal 89
High forehead 102
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 1
Hydrocephalus 152
Hydronephrosis 89
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hypertrophy of lower jaw 78
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Hypodontia 81
Hypogonadism, Isolated Hypogonadotropic 71
Hypoplasia of corpus callosum 90
Hypoplasia of iris 10
Hypoplasia of the maxilla 66
Hypoplasia or absence of the corpus callosum 23
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Hypoplastic ovary 30
Hypoplastic scapulae 14
Hypoplastic toenails 22
Hypothalamic gonadotropin-releasing hormone deficiency 14
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Idiopathic hypogonadotropic hypogonadism 21
Inadequate arch length for tooth size 45
Increased female libido 13
Increased size of mandible 78
Increased size of penis 7
Increased susceptibility to fractures 21
Infant, Small for Gestational Age 176
Infantile uterus 23
Intellectual disability 1016
Interfrontal craniofaciosynostosis 2
Intrauterine retardation 176
Isolated cases 72
Kallmann Syndrome 2 (disorder) 18
Language Delay 112
Linear hyperpigmentation 1
Lipomas of the central neryous system 1
Lobar Holoprosencephaly 20
Long philtrum 137
Low Vision 174
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Lumbar hemivertebra 1
Major Depressive Disorder 301
Malar flattening 129
Mammary Neoplasms 425
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Maxillary retrognathia 66
Meckel Diverticulum 5
Mental Depression 333
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microdontia (disorder) 59
Micrognathism 275
Microphthalmos 100
Midface retrusion 105
Mirror movements disorder 8
Missing more than six teeth 22
Multiple unerupted teeth 1
Myeloproliferative disease 16
Nasal bridge wide 236
Nasal congestion (finding) 2
Nasal obstruction present finding 3
Non-midline cleft lip 6
Non-obstructive azoospermia 21
Nystagmus 317
Oligodontia 24
Orbital separation diminished 23
Orbital separation excessive 244
Osteopenia 99
Osteoporosis 363
Pediatric failure to thrive 365
Pelvic kidney 10
Penile hypospadias 106
Peripheral pulmonary artery stenosis 14
Pilocytic astrocytoma 56
Pituitary hypoplasia 23
Platyspondyly 56
Poor school performance 645
Preauricular skin tag 19
Primary physiologic amenorrhea 55
Prominent ear 56
Prominent eyes 96
Prominent globes 96
Prominent supraorbital ridges 19
Protruding ears 56
Protruding eyes 96
Pseudarthrosis 1
Radial aplasia/hypoplasia 29
Radiohumeral synostosis of elbow 8
Ramer Ladda syndrome 8
Reduced number of teeth 21
Respiratory Insufficiency 132
Respiratory distress 43
Respiratory function loss 121
Retrusion of upper jaw bones 66
Rhizomelia 25
Sclerocornea 29
Secondary physiologic amenorrhea 32
Seizures 596
Sense of smell impaired 21
Sensorineural Hearing Loss (disorder) 284
Septo-Optic Dysplasia 11
Shallow orbits 13
Short extremities 7
Short hallux 16
Short hands 50
Short metacarpal 43
Short metatarsal 21
Short middle phalanx of toe 3
Short neck 140
Short nose 132
Short phalanx of finger 32
Short stature 531
Simple syndactyly of toes, first web space 23
Skin tag on the posterior cheek 19
Skull malformation 38
Small cell carcinoma of lung 45
Small head 374
Small midface 105
Small nose 132
Small testicle 75
Spade-like hand 16
Sparse body hair 32
Speech Delay 112
Speech impairment 112
Squamous cell carcinoma 129
Strabismus 270
Subaortic stenosis 9
Subcutaneous lipomas 9
Syndactyly of fingers 48
Syndactyly of the toes 45
Synophrys 40
Tall forehead 102
Telecanthus 62
Testicular hypogonadism 21
Thumb absent or hypoplastic 9
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Triangular head shape 10
Trigonocephaly 10
Unipolar Depression 250
Uranostaphyloschisis 167
Visual Impairment 174
Wedge shaped head 10
Wide skull shape 88
Wide spaced nipples 46
Widened metatarsal shaft 5
Widened phalanges 4
mandibular excess (physical finding) 78
non-small cell lung carcinoma 317
Disease Target Count Z-score Confidence
Breast cancer 3578 0.0 0.8
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Holoprosencephaly 56 0.0 4.0
Klinefelter's syndrome 56 0.0 4.0

Expression

  Differential Expression (21)

Disease log2 FC p
adrenocortical carcinoma 1.808 1.2e-05
astrocytic glioma 1.500 7.8e-03
Astrocytoma, Pilocytic 1.100 3.8e-04
atypical teratoid / rhabdoid tumor 2.000 1.2e-05
breast carcinoma -1.200 1.7e-20
ductal carcinoma in situ -1.200 2.8e-03
ependymoma 1.100 4.3e-02
gastric carcinoma 1.300 1.1e-02
glioblastoma 1.200 1.9e-03
inflammatory breast cancer -1.400 2.7e-03
intraductal papillary-mucinous adenoma (... -1.900 1.5e-04
intraductal papillary-mucinous carcinoma... -2.100 6.6e-05
intraductal papillary-mucinous neoplasm ... -2.000 2.2e-03
invasive ductal carcinoma -1.300 5.1e-03
lung cancer 1.200 1.1e-03
oligodendroglioma 1.200 3.5e-03
osteosarcoma 2.673 7.3e-05
ovarian cancer -1.600 6.0e-07
pancreatic ductal adenocarcinoma liver m... 1.983 1.8e-02
Pick disease 1.100 1.8e-06
tuberculosis -1.100 5.7e-06

Synonym

Accession P11362 A8K6T9 A8K8V5 C1KBH8 P17049 Q02063 Q02065 Q14306 Q14307 Q53H63 Q59H40 Q5BJG2 Q8N685 Q9UD50 Q9UDF0 Q9UDF1 Q9UDF2 FGFR-1
Symbols CEK
FLG
HH2
OGD
ECCL
FLT2
KAL2
BFGFR
CD331
FGFBR
FLT-2
HBGFR
N-SAM
FGFR-1
HRTFDS
bFGF-R-1

Gene

PDB (50)

Gene RIF (367)

AA Sequence

MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDG      1 - 70
VQLAESNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKE     71 - 140
TDNTKPNRMPVAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRY    141 - 210
ATWSIIMDSVVPSDKGNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVY    211 - 280
SDPQPHIQWLKHIEVNGSKIGPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLS    281 - 350
HHSAWLTVLEALEERPAVMTSPLYLEIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKS    351 - 420
IPLRRQVTVSADSSASMNSGVLLVRPSRLSSSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFG    421 - 490
QVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDLSDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVI    491 - 560
VEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDLVSCAYQVARGMEYLASKKCIHRDLAARNVL    561 - 630
VTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDRIYTHQSDVWSFGVLLWEIFTLGGSP    631 - 700
YPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRIVALTSNQEYLDLS    701 - 770
MPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR                      771 - 822
//

Text Mined References (487)

PMID Year Title