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 51
Agitation 16
Amaurosis Fugax 8
Aneurysm 6
Aneurysmal disease 6
Antiphospholipid antibody positivity 4
Aphasia 25
Arthritis 276
Autosomal recessive predisposition 1407
Bell Palsy 57
Cerebellar Ataxia 302
Cerebrovascular accident 60
Cutis marmorata 31
Dementia 172
Developmental regression 94
Dizziness 26
Dysarthria 190
Elevated hepatic transaminases 79
Epilepsy 775
Erythema Nodosum 2
Facial Paresis 58
Facial muscle weakness of muscles innervated by CN VII 57
Fever 136
Forgetful 38
Headache 36
Hemiparesis 32
Hemiplegia 24
Hepatic enzyme increased 79
Hepatomegaly 280
Highly variable severity 149
Hypertensive disease 278
Immunologic Deficiency Syndromes 110
Increase in blood pressure 118
Intermittent migraine headaches 66
Isolated cases 70
Liver Dysfunction 97
Liver enzymes abnormal 79
Liver function test increased 79
Liver function tests abnormal finding 79
Loss of developmental milestones 94
Memory Loss 38
Memory impairment 38
Mental deterioration 32
Mental deterioration in childhood 94
Migraine Disorders 74
Motor delay 144
Muscle Weakness 168
Myalgia 53
Neurodevelopmental regression 94
Neuropathy 254
No development of motor milestones 144
Ophthalmoplegia 105
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 1
Panniculitis 8
Peripheral Neuropathy 131
Progressive disorder 139
Psychomotor regression 94
Psychomotor regression beginning in infancy 94
Psychomotor regression in infants 94
Psychomotor regression, progressive 94
Purpura 41
Seizures 584
Splenomegaly 186
Stricture of artery 4
Subclinical abnormal liver function tests 79
Thromboembolic stroke 2
Transaminases increased 79
Tremor 112
Variable expressivity 149
Vertigo 29
Visual field defects 18
Disease Target Count Z-score Confidence
Carcinoma 11192 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