Property Summary

NCBI Gene PubMed Count 94
PubMed Score 288.05
PubTator Score 211.78

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of metabolism/homeostasis 134
Acquired scoliosis 281
Adult onset 82
Attention deficit hyperactivity disorder 278
Autosomal recessive predisposition 1442
Broad flat nasal bridge 236
Bulging forehead 66
Byzanthine arch palate 194
Coarse facial features 108
Cognitive delay 608
Congenital Epicanthus 177
Creatine phosphokinase serum increased 110
Curvature of spine 282
Deposits immunoreactive to beta-amyloid protein 1
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
EMG positive sharp waves 2
EMG: myopathic abnormalities 22
EMG: myotonic discharges 2
Elevated creatine kinase 110
Epilepsy 792
Fatty replacement of skeletal muscle 3
Foot dorsiflexor weakness 27
Foot-drop 27
Frontal bossing 157
Gait abnormality 135
Gait, Drop Foot 24
Generalized hirsutism 36
Global developmental delay 608
Hepatomegaly 285
Hernia, Inguinal 89
Hypoplasia of nipple 16
Hypothyroidism 122
Inclusion Body Myopathy, Autosomal Recessive 1
Inclusion Body Myositis (disorder) 1
Limb-girdle muscle atrophy 2
Limb-girdle muscle weakness 12
Limb-girdle myopathy 2
Limited shoulder movement 3
Limited wrist extension 2
Long hallux 5
Long philtrum 137
Low posterior hairline 52
Low set ears 181
Mental and motor retardation 608
Mildly increased creatine kinase 20
Muscle fiber inclusion bodies 4
Nasal bridge wide 236
Orbital separation excessive 244
Periorbital fullness 9
Prominent forehead 66
Protuberant abdomen 16
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Reflex, Ankle, Absent 8
Rimmed vacuoles on biopsy 15
Seizures 596
Shoulder girdle weakness 10
Shoulder weakness 10
Sialuria, French type 1
Simple syndactyly of toes, first web space 23
Sleep Apnea Syndromes 13
Smooth philtrum 43
Splenomegaly 190
Synophrys 40
Thickened facial skin with coarse facial features 108
Thin upper lip vermilion 67
Thoracic hypoplasia 14
Tibialis muscle weakness 2
Variation in muscle fiber size 16
Weakness of hip flexors 2
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

  Differential Expression (10)

Gene RIF (62)

AA Sequence

MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSHLIDDYGNTYRMIEQDDFDINT      1 - 70
RLHTIVRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALATSAALMNIRILHIEGGEVSG     71 - 140
TIDDSIRHAITKLAHYHVCCTRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGDDVK    141 - 210
SKDYIVALQHPVTTDIKHSIKMFELTLDALISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNFRAVK    211 - 280
HVPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQ    281 - 350
FGKQYPCSKIYGDGNAVPRILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLR    351 - 420
VAIVSMKGEIVKKYTQFNPKTYEERINLILQMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTK    421 - 490
LIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAERKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGS    491 - 560
SFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQA    561 - 630
AKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSD    631 - 700
LVDPALLGAASMVLDYTTRRIY                                                    701 - 722
//

Text Mined References (95)

PMID Year Title