Property Summary

NCBI Gene PubMed Count 277
PubMed Score 814.52
PubTator Score 753.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Abnormal urinary amino-acid findings 38
Abnormality of the menstrual cycle 4
Acute hepatitis 2
Aggressive behavior 75
Aggressive reaction 75
Aminoaciduria 38
Anemia 365
Anemia, Hemolytic 55
Arthralgia 90
Arthritis 290
Atypical or prolonged hepatitis 1
Autosomal recessive predisposition 1442
Back Pain 7
Bone pain 42
Calcium pyrophosphate deposition disease 13
Clumsiness 7
Comatose 56
Decreased platelet count 111
Degenerative polyarthritis 115
Deglutition Disorders 132
Dementia 175
Depressive disorder 409
Difficulty walking 28
Drooling 27
Dull intelligence 645
Dysarthria 192
Dystonia 164
Dystonic disease 106
Ecchymosis 66
Elevated hepatic transaminases 81
Esophageal Varices 6
Failure to gain weight 365
Glycosuria 29
Hand deformities 32
Hemoglobin low 124
Hepatic enzyme increased 81
Hepatomegaly 285
High nonceruloplasmin-bound serum copper 1
Hypercalciuria 27
Hyperphosphaturia 21
Hypersexuality state 2
Hypoparathyroidism 41
Icterus 82
Increased tendency to bruise 66
Intellectual disability 1016
Joint swelling 26
Kayser-Fleischer ring 1
Kidney Neoplasm 29
Liver Dysfunction 99
Liver Failure 73
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Low intelligence 645
Major Depressive Disorder 301
Mammary Neoplasms 425
Mental Retardation 645
Mental deficiency 645
Mixed demyelinating and axonal polyneuropathy 1
Nephrolithiasis 56
Osteomalacia 35
Osteoporosis 363
Pathological fracture 20
Pediatric failure to thrive 365
Personality change 23
Physical aggression 76
Poor motor coordination 2
Poor school performance 645
Proteinuria 144
Proximal muscle weakness in lower limbs 4
Pruritus 58
Range of joint movement increased 32
Renal tubular disorder 12
Sialorrhea 28
Splenomegaly 190
Squamous cell carcinoma of the head and neck 29
Steatohepatitis 44
Subclinical abnormal liver function tests 81
Thrombocytopenia 197
Transaminases increased 81
Tremor 113
Unipolar Depression 250
Urine phosphorous concentration above normal 21
Weight Gain 100
Weight decreased 103
menstrual abnormality 4
ovarian neoplasm 99
sexual addiction 2

Expression

  Differential Expression (7)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.200 9.4e-04
cystic fibrosis -1.400 2.6e-03
intraductal papillary-mucinous neoplasm ... 2.600 1.9e-03
lung cancer 1.200 3.5e-03
malignant mesothelioma 2.900 5.8e-08
osteosarcoma -1.644 3.7e-05
ovarian cancer -2.700 3.0e-11

 OMIM Phenotype (1)

Gene RIF (231)

AA Sequence

MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATSTVRILGMTCQ      1 - 70
SCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPA     71 - 140
QEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSNQEAVITYQPYLIQPEDLRDHVNDMGFEAAI    141 - 210
KSKVAPLSLGPIDIERLQSTNPKRPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIG    211 - 280
QLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPP    281 - 350
RNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDM    351 - 420
GFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKC    421 - 490
FLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYA    491 - 560
GSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHAS    561 - 630
LAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFF    631 - 700
ILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPML    701 - 770
FVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFP    771 - 840
VDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSK    841 - 910
APIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLC    911 - 980
IACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVAT    981 - 1050
LPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPL   1051 - 1120
SAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCG   1121 - 1190
MIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGK   1191 - 1260
KVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALI   1261 - 1330
YNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQV   1331 - 1400
SVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI        1401 - 1465
//

Text Mined References (295)

PMID Year Title