Property Summary

Ligand Count 78
NCBI Gene PubMed Count 565
PubMed Score 306.84
PubTator Score 2867.06

Knowledge Summary

Patent (33,607)

TINX Plot

  Disease (8)

Disease Target Count
Acanthosis Nigricans 27
Hypertrichosis 46
Abdomen distended 43
Abnormality of the abdominal wall 10
Acromegaly 51
Adipose tissue loss 3
Advanced bone age 35
Alzheimer's disease 658
Autosomal recessive predisposition 1442
Brachydactyly 156
Byzanthine arch palate 194
Cachexia 50
Cholestasis 155
Class III malocclusion 78
Coarse facial features 108
Coarse hair 31
Cognitive delay 608
Concave bridge of nose 195
Congenital anomaly of face 56
Congenital diaphragmatic hernia 67
Delayed Puberty 97
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diabetes Mellitus, Non-Insulin-Dependent 145
Distortion of face 46
Dry skin 75
Dysmorphic facies 46
Elfin facies 10
Excess nuchal skin 30
Exophthalmos 112
Fasting Hypoglycemia 8
Feeding difficulties in infancy 175
Female Pseudohermaphroditism 5
Fetal Growth Retardation 189
Fibrosis, Liver 32
Full lower lip 64
Funny looking face 46
Generalized hirsutism 36
Generalized hyperpigmentation 22
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay 608
Growth hormone excess 14
Gynecomastia 64
Hearing abnormality 12
Hernia, Inguinal 89
High, narrow palate 32
Hyperglycemia, Postprandial 8
Hyperinsulinaemic hypoglycaemia 16
Hyperinsulinemia, fasting 7
Hyperkeratosis 50
Hyperpigmented macules 42
Hypertrophy of clitoris 40
Hypertrophy of lower jaw 78
Hypertrophy of nail 2
Hypoglycaemic seizure 10
Hypoglycemia 152
Hypoglycemic coma 10
Impaired cognition 96
Impaired glucose tolerance 28
Increased size of mandible 78
Increased size of penis 7
Infant, Small for Gestational Age 176
Insulin resistance - type A 1
Insulin resistant diabetes 13
Intrauterine retardation 176
Islets of Langerhans hyperplasia 11
Large auricle 87
Large dysplastic ears 87
Large hand 18
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lipoatrophy 19
Long foot 8
Low Birth Weights 69
Low set ears 181
Low-set, posteriorly rotated ears 110
Macrostomia 72
Macrotia 87
Mandibular hyperplasia 78
Mental and motor retardation 608
Mental impairment 95
Multiple, subcutaneous nodules 53
Nail dysplasia 52
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Neuropathy 261
Onychogryposis 13
Orbital separation excessive 244
Ovarian Cysts 41
Peripheral Neuropathy 134
Postnatal growth retardation 57
Precocious Puberty 28
Precociously senile appearance 18
Premature tooth eruption 5
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Prominent nipples 2
Proteinuria 144
Protruding eyes 96
Rabson-Mendenhall Syndrome 1
Recurrent infections 48
Recurrent respiratory infections 141
Rough hair texture 31
Severe failure to thrive 4
Short stature 531
Skeletal muscle atrophy 139
Small face 10
Small for gestational age (disorder) 69
Subcutaneous nodule 53
Thick nasal alae 5
Thickened facial skin with coarse facial features 108
Thyroid Diseases 24
Umbilical hernia 93
Xerosis 75
diabetic ketoacidosis 3
facial deformity 46
mandibular excess (physical finding) 78
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Disease Target Count Z-score Confidence
Obesity 678 3.84 1.9
Cancer 2499 3.3 1.7
Hyperandrogenism 34 3.129 1.6

Expression

  Differential Expression (21)

Disease log2 FC p
adult high grade glioma -1.200 3.5e-03
astrocytic glioma -1.300 3.0e-02
atypical teratoid / rhabdoid tumor -1.200 3.9e-03
Breast cancer 2.900 3.7e-02
dermatomyositis 1.600 8.9e-05
ependymoma -1.100 2.5e-03
esophageal adenocarcinoma 1.800 2.2e-02
glioblastoma -1.400 3.5e-03
intraductal papillary-mucinous adenoma (... -1.300 1.6e-02
intraductal papillary-mucinous neoplasm ... -1.400 2.7e-02
malignant mesothelioma 1.700 9.2e-08
medulloblastoma, large-cell -2.200 5.8e-06
Multiple myeloma 1.672 1.2e-02
osteosarcoma -2.019 2.3e-04
ovarian cancer -1.200 8.4e-04
pancreatic cancer 1.100 3.0e-02
pancreatic carcinoma 1.100 3.0e-02
primary pancreatic ductal adenocarcinoma -1.341 4.3e-03
primary Sjogren syndrome -1.500 4.0e-04
psoriasis -2.700 9.8e-06
spina bifida -1.577 4.7e-02

PDB (31)

Gene RIF (313)

AA Sequence

MATGGRRGAAAAPLLVAVAALLLGAAGHLYPGEVCPGMDIRNNLTRLHELENCSVIEGHLQILLMFKTRP      1 - 70
EDFRDLSFPKLIMITDYLLLFRVYGLESLKDLFPNLTVIRGSRLFFNYALVIFEMVHLKELGLYNLMNIT     71 - 140
RGSVRIEKNNELCYLATIDWSRILDSVEDNYIVLNKDDNEECGDICPGTAKGKTNCPATVINGQFVERCW    141 - 210
THSHCQKVCPTICKSHGCTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRC    211 - 280
VNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPSGYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDS    281 - 350
VTSAQELRGCTVINGSLIINIRGGNNLAAELEANLGLIEEISGYLKIRRSYALVSLSFFRKLRLIRGETL    351 - 420
EIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSGTKGRQERNDIALKTNG    421 - 490
DQASCENELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVD    491 - 560
IDPPLRSNDPKSQNHPGWLMRGLKPWTQYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPIS    561 - 630
VSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYCLKGLKLPSRTWSPPFESEDSQKHNQS    631 - 700
EYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRKTSSGTGAEDPRPSRKRRSLGDVGNV    701 - 770
TVAVPTVAAFPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYV    771 - 840
SARTMPEAKADDIVGPVTHEIFENNVVHLMWQEPKEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERG    841 - 910
CRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYLDVPSNIAKIIIGPLIFVFLFSVVIGSIYLFLR    911 - 980
KRQPDGPLGPLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKGEA    981 - 1050
ETRVAVKTVNESASLRERIEFLNEASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRP   1051 - 1120
EAENNPGRPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTRDIYETDYY   1121 - 1190
RKGGKGLLPVRWMAPESLKDGVFTTSSDMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDN   1191 - 1260
CPERVTDLMRMCWQFNPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSEENKAPESEELEMEFEDMENVPLD   1261 - 1330
RSSHCQREEAGGRDGGSSLGFKRSYEEHIPYTHMNGGKKNGRILTLPRSNPS                     1331 - 1382
//

Text Mined References (592)

PMID Year Title