Property Summary

Ligand Count 4
NCBI Gene PubMed Count 326
PubMed Score 1166.12
PubTator Score 1666.74

Knowledge Summary

Patent (51,709)

TINX Plot

  Disease (8)

Disease Target Count
Hypothyroidism 122
Goiter 38
Abdomen distended 43
Abnormality of metabolism/homeostasis 134
Activating thyroid-stimulating hormone receptor defect 1
Advanced bone age 35
Agitation 16
Athyroidal hypothyroidism 5
Autosomal recessive predisposition 1442
Coarse facial features 108
Cognitive delay 608
Constipation 181
Delayed speech and language development 112
Diarrhea 253
Dry skin 75
Dull intelligence 645
Dyschezia 135
Elevated heart rate 25
Fatigue 182
Feeding difficulties 127
Global developmental delay 608
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 4
Hoarse cry 5
Hyperactive behavior 91
Hyperemesis Gravidarum 1
Hypersomnia 8
Icterus 82
Infantile onset 238
Intellectual disability 1016
Isolated cases 72
Language Delay 112
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Low Birth Weights 69
Low intelligence 645
Macroglossia 65
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Motor delay 147
Muscle Weakness 170
Muscle hypotonia 571
No development of motor milestones 147
Poor school performance 645
Premature Birth 77
Premature birth of newborn 67
Raised TSH level 8
Severe mental retardation (I.Q. 20-34) 99
Short stature 531
Sleep disturbances 37
Small for gestational age (disorder) 69
Speech Delay 112
Speech impairment 112
Tachycardia 43
Thickened facial skin with coarse facial features 108
Thyroid Agenesis 5
Thyroid Neoplasm 37
Thyroid hyperplasia 1
Toxic diffuse goiter 2
Tremor of hands 3
Umbilical hernia 93
Weight decreased 103
Wide bregma sutures 46
Xerosis 75
Disease Target Count
Serum thyroglobulin level 1
Disease Target Count P-value
psoriasis 6694 4.8e-04
colon cancer 1478 1.0e-02
osteosarcoma 7950 1.5e-02
ependymoma 4679 3.2e-02
facioscapulohumeral dystrophy 288 4.2e-02
astrocytic glioma 2597 4.3e-02
group 3 medulloblastoma 4104 5.0e-02
Disease Target Count Z-score Confidence
Kidney cancer 2613 0.0 0.7
Plummer's disease 11 0.0 1.9

Expression

  Differential Expression (7)

Disease log2 FC p
astrocytic glioma 1.600 4.3e-02
colon cancer -1.400 1.0e-02
ependymoma 1.300 3.2e-02
facioscapulohumeral dystrophy -2.000 4.2e-02
group 3 medulloblastoma 1.100 5.0e-02
osteosarcoma -2.058 1.5e-02
psoriasis -2.200 4.8e-04

 CSPA Cell Line (1)

Protein-protein Interaction (8)

Gene RIF (255)

AA Sequence

MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLIETHLRTIPSH      1 - 70
AFSNLPNISRIYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKM     71 - 140
FPDLTKVYSTDIFFILEITDNPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKN    141 - 210
KYLTVIDKDAFGGVYSGPSLLDVSQTSVTALPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYP    211 - 280
SHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNSPLHQEYEENLGDSIVGYKEKSKFQDTHNNA    281 - 350
HYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTPKSDEFNPCEDIMGYKFLRIV    351 - 420
VWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSEYYNHAIDWQT    421 - 490
GPGCNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGI    491 - 560
SSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLI    561 - 630
FTDFICMAPISFYALSAILNKPLITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICK    631 - 700
RQAQAYRGQRVPPKNSTDIQVQKVTHDMRQGLHNMEDVYELIENSHLTPKKQGQISEEYMQTVL          701 - 764
//

Text Mined References (330)

PMID Year Title