Property Summary

Ligand Count 44
NCBI Gene PubMed Count 30
PubMed Score 104.17
PubTator Score 477.77

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Chondrodysplasia punctata 41 7.644 3.8
MEND SYNDROME 1 0.0 0.0
Disease Target Count
Alopecia 115
Abnormality of pelvic girdle bone morphology 37
Abnormality of the fingernails 51
Abnormality of the thorax 19
Abnormally small eyeball 97
Acquired scoliosis 281
Auricular malformation 41
Bilateral clubfeet 1
Blepharoptosis 231
Byzanthine arch palate 194
Calcification of trachea 3
Calcinosis universalis 1
Cataract 297
Chondrodysplasia punctata, X-linked dominant type 1
Cognitive delay 608
Congenital Epicanthus 177
Congenital deafness 185
Congenital hemivertebra 25
Cryptorchidism 296
Curvature of spine 282
Dandy-Walker Syndrome 39
Deafness 198
Decreased size of eyeball 97
Downward slant of palpebral fissure 158
Dull intelligence 645
Edema 81
Elevated 8(9)-cholestenol 1
Elevated 8-dehydrocholesterol 1
Erythema 58
Exfoliative dermatitis 24
Failure to gain weight 365
Flat face 52
Flushing 60
Frontal bossing 157
Glaucoma 239
Global developmental delay 608
Hearing Loss, Partial 185
Hemiatrophy 1
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Hydronephrosis 89
Hyperkyphosis 111
Hypotrophic malar bone 129
Ichthyosiform Erythroderma, Congenital 6
Intellectual disability 1016
Kyphosis deformity of spine 114
Lens Opacities 231
Low intelligence 645
Low set ears 181
Malar flattening 129
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microphthalmos 100
Moderate mental retardation (I.Q. 35-49) 28
Muscle hypotonia 571
Nystagmus 317
Optic Atrophy 242
Overriding toe 10
Pediatric failure to thrive 365
Phenotypic variability 150
Polyhydramnios 108
Poor school performance 645
Postnatal growth retardation 57
Prenatal onset 139
Punctate calcifications of carpals 1
Punctate calcifications of tarsals 1
Punctate vertebral calcifications 2
Saddle nose 6
Scarring alopecia of scalp 13
Short neck 140
Short stature 531
Simple ear 41
Simple syndactyly of toes, first web space 23
Sparse eyebrow 42
Sparse eyelashes 31
Stippled epiphyses 28
Tracheal stenosis 23
Variable expressivity 157
X- linked recessive 110
X-linked dominant 57
hearing impairment 199

Expression

Protein-protein Interaction (1)

Gene RIF (12)

AA Sequence

MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFA      1 - 70
VCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAF     71 - 140
LRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKH    141 - 210
LTHAQSTLDAKATKAKSKKN                                                      211 - 230
//

Text Mined References (37)

PMID Year Title