Property Summary

NCBI Gene PubMed Count 40
PubMed Score 92.45
PubTator Score 141.27

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Chediak-Higashi syndrome 26 7.624 3.8
Disease Target Count
Abnormality of multiple cell lineages in the bone marrow 1
Absent reflex 92
Absent tendon reflex 92
Albinism, Ocular 8
Amblyopia 38
Anemia 365
Autosomal recessive predisposition 1442
Blood Coagulation Disorders 42
Coagulation abnormalities 27
Cognitive delay 608
Cranial nerve palsies 11
Decreased nerve conduction velocity 35
Decreased platelet count 111
Decreased tendon reflex 122
Dull intelligence 645
Ecchymosis 66
Edema 81
Epilepsy 792
Epistaxis 43
Fever 138
Foot dorsiflexor weakness 27
Foot-drop 27
Gait abnormality 135
Generalized hypopigmentation 12
Giant melanosomes in melanocytes 4
Gingival Diseases 19
Gingival Hemorrhage 18
Gingivitis 29
Global developmental delay 608
Hair hypopigmentation 12
Hemoglobin low 124
Hemorrhagic Disorders 30
Hepatomegaly 285
Hypopigmentation disorder 25
Icterus 82
Immunologic Deficiency Syndromes 113
Increased tendency to bruise 66
Intellectual disability 1016
Leukopenia 72
Low Vision 174
Low intelligence 645
Lymphadenopathy 62
Lymphoma 81
Macular hypoplasia 3
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
Neuropathy 261
Neutrophil count decreased 47
Nystagmus 317
Paresthesia 32
Periodontal Diseases 21
Peripheral Neuropathy 134
Photodysphoria 121
Photophobia 121
Pigmentary iris degeneration 20
Poor school performance 645
Progressive peripheral neuropathy 3
Recurrent bacterial skin infections 8
Recurrent cutaneous abscess formation 4
Recurrent respiratory infections 141
Recurrent systemic pyogenic infections 1
Reduced visual acuity 63
Reflex, Deep Tendon, Absent 92
Seizures 596
Skin Ulcer 48
Splenomegaly 190
Strabismus 270
Thrombocytopenia 197
Tremor 113
Visual Impairment 174
White hair 7
periodontitis 293
Disease Target Count Z-score Confidence
Systemic lupus erythematosus 194 0.0 0.9

Expression

  Differential Expression (13)

Disease log2 FC p
adult high grade glioma 1.100 1.4e-02
atypical teratoid / rhabdoid tumor -1.500 3.7e-03
glioblastoma 1.300 7.6e-04
intraductal papillary-mucinous adenoma (... 1.600 1.2e-02
malignant mesothelioma -1.100 3.3e-06
medulloblastoma, large-cell -1.500 8.9e-03
osteosarcoma -1.499 1.5e-03
ovarian cancer -2.000 7.9e-07
Pick disease -1.400 5.5e-04
progressive supranuclear palsy -1.200 1.8e-02
psoriasis 1.100 1.7e-03
tuberculosis 1.300 6.4e-05
ulcerative colitis 1.200 8.6e-06

Gene RIF (17)

AA Sequence

MSTDSNSLAREFLTDVNRLCNAVVQRVEAREEEEEETHMATLGQYLVHGRGFLLLTKLNSIIDQALTCRE      1 - 70
ELLTLLLSLLPLVWKIPVQEEKATDFNLPLSADIILTKEKNSSSQRSTQEKLHLEGSALSSQVSAKVNVF     71 - 140
RKSRRQRKITHRYSVRDARKTQLSTSDSEANSDEKGIAMNKHRRPHLLHHFLTSFPKQDHPKAKLDRLAT    141 - 210
KEQTPPDAMALENSREIIPRQGSNTDILSEPAALSVISNMNNSPFDLCHVLLSLLEKVCKFDVTLNHNSP    211 - 280
LAASVVPTLTEFLAGFGDCCSLSDNLESRVVSAGWTEEPVALIQRMLFRTVLHLLSVDVSTAEMMPENLR    281 - 350
KNLTELLRAALKIRICLEKQPDPFAPRQKKTLQEVQEDFVFSKYRHRALLLPELLEGVLQILICCLQSAA    351 - 420
SNPFYFSQAMDLVQEFIQHHGFNLFETAVLQMEWLVLRDGVPPEASEHLKALINSVMKIMSTVKKVKSEQ    421 - 490
LHHSMCTRKRHRRCEYSHFMHHHRDLSGLLVSAFKNQVSKNPFEETADGDVYYPERCCCIAVCAHQCLRL    491 - 560
LQQASLSSTCVQILSGVHNIGICCCMDPKSVIIPLLHAFKLPALKNFQQHILNILNKLILDQLGGAEISP    561 - 630
KIKKAACNICTVDSDQLAQLEETLQGNLCDAELSSSLSSPSYRFQGILPSSGSEDLLWKWDALKAYQNFV    631 - 700
FEEDRLHSIQIANHICNLIQKGNIVVQWKLYNYIFNPVLQRGVELAHHCQHLSVTSAQSHVCSHHNQCLP    701 - 770
QDVLQIYVKTLPILLKSRVIRDLFLSCNGVSQIIELNCLNGIRSHSLKAFETLIISLGEQQKDASVPDID    771 - 840
GIDIEQKELSSVHVGTSFHHQQAYSDSPQSLSKFYAGLKEAYPKRRKTVNQDVHINTINLFLCVAFLCVS    841 - 910
KEAESDRESANDSEDTSGYDSTASEPLSHMLPCISLESLVLPSPEHMHQAADIWSMCRWIYMLSSVFQKQ    911 - 980
FYRLGGFRVCHKLIFMIIQKLFRSHKEEQGKKEGDTSVNENQDLNRISQPKRTMKEDLLSLAIKSDPIPS    981 - 1050
ELGSLKKSADSLGKLELQHISSINVEEVSATEAAPEEAKLFTSQESETSLQSIRLLEALLAICLHGARTS   1051 - 1120
QQKMELELPNQNLSVESILFEMRDHLSQSKVIETQLAKPLFDALLRVALGNYSADFEHNDAMTEKSHQSA   1121 - 1190
EELSSQPGDFSEEAEDSQCCSFKLLVEEEGYEADSESNPEDGETQDDGVDLKSETEGFSASSSPNDLLEN   1191 - 1260
LTQGEIIYPEICMLELNLLSASKAKLDVLAHVFESFLKIIRQKEKNVFLLMQQGTVKNLLGGFLSILTQD   1261 - 1330
DSDFQACQRVLVDLLVSLMSSRTCSEELTLLLRIFLEKSPCTKILLLGILKIIESDTTMSPSQYLTFPLL   1331 - 1400
HAPNLSNGVSSQKYPGILNSKAMGLLRRARVSRSKKEADRESFPHRLLSSWHIAPVHLPLLGQNCWPHLS   1401 - 1470
EGFSVSLWFNVECIHEAESTTEKGKKIKKRNKSLILPDSSFDGTESDRPEGAEYINPGERLIEEGCIHII   1471 - 1540
SLGSKALMIQVWADPHNATLIFRVCMDSNDDMKAVLLAQVESQENIFLPSKWQHLVLTYLQQPQGKRRIH   1541 - 1610
GKISIWVSGQRKPDVTLDFMLPRKTSLSSDSNKTFCMIGHCLSSQEEFLQLAGKWDLGNLLLFNGAKVGS   1611 - 1680
QEAFYLYACGPNHTSVMPCKYGKPVNDYSKYINKEILRCEQIRELFMTKKDVDIGLLIESLSVVYTTYCP   1681 - 1750
AQYTIYEPVIRLKGQMKTQLSQRPFSSKEVQSILLEPHHLKNLQPTEYKTIQGILHEIGGTGIFVFLFAR   1751 - 1820
VVELSSCEETQALALRVILSLIKYNQQRVHELENCNGLSMIHQVLIKQKCIVGFYILKTLLEGCCGEDII   1821 - 1890
YMNENGEFKLDVDSNAIIQDVKLLEELLLDWKIWSKAEQGVWETLLAALEVLIRADHHQQMFNIKQLLKA   1891 - 1960
QVVHHFLLTCQVLQEYKEGQLTPMPREVCRSFVKIIAEVLGSPPDLELLTIIFNFLLAVHPPTNTYVCHN   1961 - 2030
PTNFYFSLHIDGKIFQEKVRSIMYLRHSSSGGRSLMSPGFMVISPSGFTASPYEGENSSNIIPQQMAAHM   2031 - 2100
LRSRSLPAFPTSSLLTQSQKLTGSLGCSIDRLQNIADTYVATQSKKQNSLGSSDTLKKGKEDAFISSCES   2101 - 2170
AKTVCEMEAVLSAQVSVSDVPKGVLGFPVVKADHKQLGAEPRSEDDSPGDESCPRRPDYLKGLASFQRSH   2171 - 2240
STIASLGLAFPSQNGSAAVGRWPSLVDRNTDDWENFAYSLGYEPNYNRTASAHSVTEDCLVPICCGLYEL   2241 - 2310
LSGVLLILPDVLLEDVMDKLIQADTLLVLVNHPSPAIQQGVIKLLDAYFARASKEQKDKFLKNRGFSLLA   2311 - 2380
NQLYLHRGTQELLECFIEMFFGRHIGLDEEFDLEDVRNMGLFQKWSVIPILGLIETSLYDNILLHNALLL   2381 - 2450
LLQILNSCSKVADMLLDNGLLYVLCNTVAALNGLEKNIPMSEYKLLACDIQQLFIAVTIHACSSSGSQYF   2451 - 2520
RVIEDLIVMLGYLQNSKNKRTQNMAVALQLRVLQAAMEFIRTTANHDSENLTDSLQSPSAPHHAVVQKRK   2521 - 2590
SIAGPRKFPLAQTESLLMKMRSVANDELHVMMQRRMSQENPSQATETELAQRLQRLTVLAVNRIIYQEFN   2591 - 2660
SDIIDILRTPENVTQSKTSVFQTEISEENIHHEQSSVFNPFQKEIFTYLVEGFKVSIGSSKASGSKQQWT   2661 - 2730
KILWSCKETFRMQLGRLLVHILSPAHAAQERKQIFEIVHEPNHQEILRDCLSPSLQHGAKLVLYLSELIH   2731 - 2800
NHQGELTEEELGTAELLMNALKLCGHKCIPPSASTKADLIKMIKEEQKKYETEEGVNKAAWQKTVNNNQQ   2801 - 2870
SLFQRLDSKSKDISKIAADITQAVSLSQGNERKKVIQHIRGMYKVDLSASRHWQELIQQLTHDRAVWYDP   2871 - 2940
IYYPTSWQLDPTEGPNRERRRLQRCYLTIPNKYLLRDRQKSEDVVKPPLSYLFEDKTHSSFSSTVKDKAA   2941 - 3010
SESIRVNRRCISVAPSRETAGELLLGKCGMYFVEDNASDTVESSSLQGELEPASFSWTYEEIKEVHKRWW   3011 - 3080
QLRDNAVEIFLTNGRTLLLAFDNTKVRDDVYHNILTNNLPNLLEYGNITALTNLWYTGQITNFEYLTHLN   3081 - 3150
KHAGRSFNDLMQYPVFPFILADYVSETLDLNDLLIYRNLSKPIAVQYKEKEDRYVDTYKYLEEEYRKGAR   3151 - 3220
EDDPMPPVQPYHYGSHYSNSGTVLHFLVRMPPFTKMFLAYQDQSFDIPDRTFHSTNTTWRLSSFESMTDV   3221 - 3290
KELIPEFFYLPEFLVNREGFDFGVRQNGERVNHVNLPPWARNDPRLFILIHRQALESDYVSQNICQWIDL   3291 - 3360
VFGYKQKGKASVQAINVFHPATYFGMDVSAVEDPVQRRALETMIKTYGQTPRQLFHMAHVSRPGAKLNIE   3361 - 3430
GELPAAVGLLVQFAFRETREQVKEITYPSPLSWIKGLKWGEYVGSPSAPVPVVCFSQPHGERFGSLQALP   3431 - 3500
TRAICGLSRNFCLLMTYSKEQGVRSMNSTDIQWSAILSWGYADNILRLKSKQSEPPVNFIQSSQQYQVTS   3501 - 3570
CAWVPDSCQLFTGSKCGVITAYTNRFTSSTPSEIEMETQIHLYGHTEEITSLFVCKPYSILISVSRDGTC   3571 - 3640
IIWDLNRLCYVQSLAGHKSPVTAVSASETSGDIATVCDSAGGGSDLRLWTVNGDLVGHVHCREIICSVAF   3641 - 3710
SNQPEGVSINVIAGGLENGIVRLWSTWDLKPVREITFPKSNKPIISLTFSCDGHHLYTANSDGTVIAWCR   3711 - 3780
KDQQRLKQPMFYSFLSSYAAG                                                    3781 - 3801
//

Text Mined References (43)

PMID Year Title