Property Summary

NCBI Gene PubMed Count 270
PubMed Score 1188.35
PubTator Score 827.12

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Osteopetrosis 43
Lymphedema 42
ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder) 1
Abnormal blistering of the skin 54
Abnormal hand morphology 2
Abnormal pigmentation 25
Abnormally small eyeball 97
Accessory nipple 11
Accessory rib 10
Acquired deformity of finger 3
Acquired scoliosis 281
Alopecia 115
Asymmetric growth 5
Atrophic, patchy alopecia 1
Attention deficit hyperactivity disorder 278
Blister of skin 54
Bloch Sulzberger syndrome 1
Cataract 297
Cicatrization 3
Cleft palate with cleft lip 23
Clouding of corneal stroma 50
Coarse hair 31
Congenital absence of breast 1
Congenital hemivertebra 25
Congenital hypoplasia of breast 25
Corneal Opacity 53
Curvature of spine 282
Decreased size of eyeball 97
Dental abnormalities 60
Dry skin 75
Dull intelligence 645
Dysgammaglobulinemia 10
Dystrophia unguium 53
Ectodermal Dysplasia 14
Eosinophilia 28
Epilepsy 792
Erythema 58
Exanthema 43
Fine hair 42
Flexion contracture of proximal interphalangeal joint 75
Flushing 60
Frontal bossing 157
Gait abnormality 135
Hearing abnormality 12
Hyperhidrosis disorder 81
Hyperkeratosis 50
Hypodontia 81
Hypoplasia of nipple 16
Hypoplastic fingernails 11
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder) 1
IgG Deficiency 22
Immunoglobulin A deficiency (disorder) 19
Immunologic Deficiency Syndromes 113
Impaired memory B-cell generation 3
Increased IgM levels 16
Increased susceptibility to bacterial infections 42
Increased sweating 81
Intellectual disability 1016
Irregular hyperpigmentation 33
Keratitis 62
Kyphoscoliosis deformity of spine 60
Late tooth eruption 61
Lens Opacities 231
Low Vision 174
Low intelligence 645
Lymphatic obstruction 21
Lytic lesion 32
Mental Retardation 645
Mental deficiency 645
Microphthalmos 100
Muscle Spasticity 195
Nail dysplasia 52
Onset of lymphedema around puberty 21
Onychogryposis 13
Optic Atrophy 242
Oral cleft 18
Peg shaped front tooth 6
Peg-shaped incisors 6
Pitting of nails 6
Pointed front tooth 6
Pointed incisor 6
Poor school performance 645
Prone to bacterial infection 42
Recurrent bacterial infection 42
Recurrent infections 48
Recurrent mycobacterium avium complex infections 2
Recurrent streptococcus pneumoniae infections 3
Retinal Detachment 51
Retinal Hemorrhage 6
Retinal Neovascularization 4
Ridged nails 14
Rough hair texture 31
Seizures 596
Short stature 531
Skin Ulcer 48
Skin bulla 54
Small head 374
Sparse hair 59
Strabismus 270
Sweating 81
Telangiectasia of the skin 39
Thin, sparse hair 59
Tooth Abnormalities 69
Uveitis 103
Visual Impairment 174
Warts 10
X- linked recessive 110
X-linked dominant 57
Xerosis 75
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Bloch-Sulzberger syndrome 2 0.0 5.0

Expression

Protein-protein Interaction (11)

Gene RIF (174)

AA Sequence

MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQ      1 - 70
ILRERCEELLHFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQQMAEDKA     71 - 140
SVKAQVTSLLGELQESQSRLEAATKECQALEGRARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVE    141 - 210
AALRMERQAASEEKRKLAQLQVAYHQLFQEYDNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEV    211 - 280
IDKLKEEAEQHKIVMETVPVLKAQADIYKADFQAERQAREKLAEKKELLQEQLEQLQREYSKLKASCQES    281 - 350
ARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKCQYQAPDMDTLQIHVMECIE     351 - 419
//

Text Mined References (291)

PMID Year Title