Property Summary

NCBI Gene PubMed Count 33
PubMed Score 32.45
PubTator Score 128.27

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Sneddon syndrome 4 4.059 2.0
Disease Target Count
Abnormal behavior 52
Agitation 16
Amaurosis Fugax 8
Aneurysm 7
Aneurysmal disease 6
Antiphospholipid antibody positivity 4
Aphasia 26
Arthritis 290
Autosomal recessive predisposition 1442
Bell Palsy 58
Cerebellar Ataxia 304
Cerebrovascular accident 63
Cutis marmorata 32
Dementia 175
Developmental regression 95
Dizziness 26
Dysarthria 192
Elevated hepatic transaminases 81
Epilepsy 792
Erythema Nodosum 3
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Fever 138
Forgetful 40
Headache 37
Hemiparesis 34
Hemiplegia 25
Hepatic enzyme increased 81
Hepatomegaly 285
Highly variable severity 157
Hypertensive disease 292
Immunologic Deficiency Syndromes 113
Increase in blood pressure 119
Intermittent migraine headaches 68
Isolated cases 72
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Loss of developmental milestones 95
Memory Loss 40
Memory impairment 40
Mental deterioration 32
Mental deterioration in childhood 95
Migraine Disorders 76
Motor delay 147
Muscle Weakness 170
Myalgia 54
Neurodevelopmental regression 95
Neuropathy 261
No development of motor milestones 147
Ophthalmoplegia 106
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 1
Panniculitis 9
Peripheral Neuropathy 134
Progressive disorder 142
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Purpura 43
Seizures 596
Splenomegaly 190
Stricture of artery 4
Subclinical abnormal liver function tests 81
Thromboembolic stroke 2
Transaminases increased 81
Tremor 113
Variable expressivity 157
Vertigo 29
Visual field defects 19
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

  Differential Expression (22)

Disease log2 FC p
astrocytoma 2.300 4.1e-02
Astrocytoma, Pilocytic 1.700 1.2e-08
Breast cancer 2.200 3.4e-02
cutaneous lupus erythematosus 2.100 5.2e-04
diabetes mellitus -1.200 2.0e-02
Duchenne muscular dystrophy 1.060 1.5e-10
ductal carcinoma in situ 1.300 2.7e-02
Gaucher disease type 3 1.200 4.1e-02
glioblastoma 1.500 1.4e-02
head and neck cancer -1.600 1.6e-03
interstitial cystitis 1.300 2.4e-02
intraductal papillary-mucinous carcinoma... -1.200 3.3e-02
invasive ductal carcinoma 1.564 3.1e-04
osteosarcoma -3.499 3.2e-05
ovarian cancer -1.100 2.9e-03
periodontitis 1.600 1.3e-28
primary Sjogren syndrome 1.500 1.5e-02
primitive neuroectodermal tumor 1.100 2.1e-02
psoriasis 1.100 1.3e-06
subependymal giant cell astrocytoma 1.946 6.7e-03
tuberculosis 2.300 2.0e-06
ulcerative colitis 2.200 1.3e-04

Gene RIF (19)

AA Sequence

MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMMRLGGRLVLNTKEELANERLMTLKIAE      1 - 70
MKEAMRTLIFPPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVTMDWLVRNVTYRPHCHICFTP     71 - 140
RGIMQFRFAHPTPRPSEKCSKWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQNVVWSKFETI    141 - 210
FFTISGLIHYAPVFRDYVFRSMQEFYEDNVLYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETH    211 - 280
PEFIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVK    281 - 350
LPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWKKDIPIEVCPISNQVLKLVSD    351 - 420
LRNHPVATLMATGHPMVISSDDPAMFGAKGLSYDFYEVFMGIGGMKADLRTLKQLAMNSIKYSTLLESEK    421 - 490
NTFMEIWKKRWDKFIADVATK                                                     491 - 511
//

Text Mined References (37)

PMID Year Title