Property Summary

NCBI Gene PubMed Count 64
PubMed Score 86.43
PubTator Score 42.81

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Muscular dystrophy 75
Polydactyly 107
Absent reflex 92
Absent tendon reflex 92
Autosomal recessive predisposition 1442
Bell Palsy 58
Calf muscle pseudohypertrophy 5
Centrally nucleated skeletal muscle fibers 10
Congenital anomaly of the kidney 12
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 176
Creatine phosphokinase serum increased 110
Decreased tendon reflex 122
Dull intelligence 645
EMG: myopathic abnormalities 22
Electromyogram abnormal 49
Electroretinogram abnormal 95
Elevated creatine kinase 110
Exercise-induced myalgia 8
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Gowers sign 24
Gowers sign present 24
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hypertensive disease 292
Hypogonadism 173
Hypoplastic ovary 30
Increase in blood pressure 119
Intellectual disability 1016
Kidney Diseases 114
Low intelligence 645
Mask-like facies 25
Mental Retardation 645
Mental deficiency 645
Multicystic Dysplastic Kidney 52
Muscle biopsy shows dystrophic changes 39
Myopathy 185
Neck flexor weakness 6
Nystagmus 317
Obesity 678
Pelvic girdle muscle atrophy 3
Pelvic girdle weakness 7
Phenotypic variability 150
Poor school performance 645
Proximal muscle weakness in lower limbs 4
Quadriceps weakness 1
Reflex, Deep Tendon, Absent 92
Retinal Diseases 55
Retinitis Pigmentosa 226
Short stature 531
Shoulder girdle muscle atrophy 6
Shoulder girdle weakness 10
Shoulder weakness 10
Slow progression 89
Tall stature 34
Ulnar polydactyly of fingers 47
Variation in muscle fiber size 16
Waddling gait 34
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
limb-girdle muscular dystrophy 37 0.0 4.0
Disease Target Count Z-score Confidence
Muscular atrophy 71 3.067 1.5

Expression

  Differential Expression (5)

Disease log2 FC p
acute quadriplegic myopathy 1.186 1.5e-06
group 4 medulloblastoma -1.100 2.1e-02
lung cancer 1.300 3.0e-02
ovarian cancer 1.100 1.8e-04
subependymal giant cell astrocytoma -1.993 2.2e-02

Protein-protein Interaction (2)

Gene RIF (41)

AA Sequence

MAAAAASHLNLDALREVLECPICMESFTEEQLRPKLLHCGHTICRQCLEKLLASSINGVRCPFCSKITRI      1 - 70
TSLTQLTDNLTVLKIIDTAGLSEAVGLLMCRSCGRRLPRQFCRSCGLVLCEPCREADHQPPGHCTLPVKE     71 - 140
AAEERRRDFGEKLTRLRELMGELQRRKAALEGVSKDLQARYKAVLQEYGHEERRVQDELARSRKFFTGSL    141 - 210
AEVEKSNSQVVEEQSYLLNIAEVQAVSRCDYFLAKIKQADVALLEETADEEEPELTASLPRELTLQDVEL    211 - 280
LKVGHVGPLQIGQAVKKPRTVNVEDSWAMEATASAASTSVTFREMDMSPEEVVASPRASPAKQRGPEAAS    281 - 350
NIQQCLFLKKMGAKGSTPGMFNLPVSLYVTSQGEVLVADRGNYRIQVFTRKGFLKEIRRSPSGIDSFVLS    351 - 420
FLGADLPNLTPLSVAMNCQGLIGVTDSYDNSLKVYTLDGHCVACHRSQLSKPWGITALPSGQFVVTDVEG    421 - 490
GKLWCFTVDRGSGVVKYSCLCSAVRPKFVTCDAEGTVYFTQGLGLNLENRQNEHHLEGGFSIGSVGPDGQ    491 - 560
LGRQISHFFSENEDFRCIAGMCVDARGDLIVADSSRKEILHFPKGGGYSVLIREGLTCPVGIALTPKGQL    561 - 630
LVLDCWDHCIKIYSYHLRRYSTP                                                   631 - 653
//

Text Mined References (65)

PMID Year Title