Property Summary

NCBI Gene PubMed Count 83
PubMed Score 177.49
PubTator Score 268.57

Knowledge Summary

Patent (31,791)

TINX Plot

  Disease (5)

Disease Target Count
Aphthous stomatitis 16
Abdominal Pain 98
Aciduria 1
Aplasia/Hypoplasia of the skin 16
Arthritis 290
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Blue sclera 32
Cataract 297
Cerebellar Ataxia 304
Cerebellar degeneration 103
Cerebral atrophy 178
Cognitive delay 608
Creatine phosphokinase serum increased 110
Decreased platelet count 111
Deficiency of mevalonate kinase 2
Degenerative brain disorder 100
Delayed bone age 136
Diarrhea 253
Difficulties with night vision 87
Dizziness 26
Downward slant of palpebral fissure 158
Dull intelligence 645
ESR raised 20
Edema 81
Elevated creatine kinase 110
Elevated hepatic transaminases 81
Elevated serum IgA 5
Epilepsy 792
Failure to gain weight 365
Familial aplasia of the vermis 19
Fluctuating hepatomegaly 1
Fluctuating splenomegaly 1
Gastrointestinal Hemorrhage 52
Global developmental delay 608
Headache 37
Hepatic enzyme increased 81
Hepatomegaly 285
Hyperimmunoglobulinemia D 1
Hyperkeratosis 50
Hyperpigmented macules 42
Infratentorial atrophy 103
Intellectual disability 1016
Intermittent fever 15
Intermittent migraine headaches 68
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Lens Opacities 231
Leukocytosis 17
Liver Dysfunction 99
Liver carcinoma 240
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Long narrow head 75
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Lymphadenopathy 62
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Migraine Disorders 76
Morbilliform rash 1
Muscle hypotonia 571
Myalgia 54
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Night Blindness 101
Normocytic hypoplastic anemia 1
Nystagmus 317
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 2
Pallor of optic disc 39
Papule 43
Pediatric failure to thrive 365
Photosensitivity of skin 51
Poor school performance 645
Porokeratosis, Disseminated Superficial Actinic 4
Posteriorly rotated ear 61
Progressive cerebellar ataxia 13
Pruritus 58
Recurrent aphthous ulcer 14
Seizures 596
Short stature 531
Small head 374
Splenomegaly 190
Subclinical abnormal liver function tests 81
Supratentorial atrophy 94
Thrombocytopenia 197
Transaminases increased 81
Triangular face 58
Turridolichocephaly 75
Urticaria 67
Vasculitis 80
Vertigo 29
Vomiting 116
Wide bregma sutures 46
Disease Target Count P-value
osteosarcoma 7950 6.1e-10
malignant mesothelioma 3232 2.2e-06
psoriasis 6694 3.3e-04

Expression

  Differential Expression (3)

Disease log2 FC p
malignant mesothelioma 1.400 2.2e-06
osteosarcoma 2.839 6.1e-10
psoriasis 1.500 3.3e-04

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (53)

AA Sequence

MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSL      1 - 70
DTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPG     71 - 140
AGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTW    141 - 210
GGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLG    211 - 280
EMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQ    281 - 350
PEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL                            351 - 396
//

Text Mined References (83)

PMID Year Title