Property Summary

NCBI Gene PubMed Count 22
PubMed Score 38.78
PubTator Score 35.75

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Radioulnar synostosis 35
Abnormal pigmentation 24
Abnormal skeletal development 60
Absent earlobe 9
Acquired flat foot 70
Aortic valve stenosis 27
Arachnodactyly 49
Atrophic scar 18
Autosomal recessive predisposition 1407
Big calvaria 147
Broad flat nasal bridge 232
Cleft uvula 27
Cognitive delay 596
Congenital Epicanthus 175
Congenital anomaly of face 54
Congenital hypoplasia of clavicle 18
Contracture 95
Contracture of joint 92
Coxa valga 22
Coxa valga deformity 22
Cryptorchidism 287
Cutis Laxa 39
Cutis gyrata of palms and soles 2
Distortion of face 44
Dysmorphic facies 44
Exophthalmos 110
Failure to gain weight 359
Flatfoot 71
Flexion contracture 92
Flexion contractures of joints 92
Funny looking face 44
Generalized elastolysis 24
Generalized osteopenia 94
Gingivitis 28
Global developmental delay 596
Hanging skin 24
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Joint laxity 52
Lipodystrophy 37
Long toes 5
Mental and motor retardation 596
Microstomia 76
Muscle hypotonia 562
Narrow thorax 53
Nasal bridge wide 232
Neurogenic Muscular Atrophy 136
Neurogenic muscle atrophy, especially in the lower limbs 136
Osteochondrodysplasias 72
Osteopenia 94
Pediatric failure to thrive 359
Prominent eyes 95
Prominent globes 95
Protruding eyes 95
Pulmonary Stenosis 44
Short stature 514
Single transverse palmar crease 29
Skeletal muscle atrophy 136
Skin hyperelastic 32
Slender toe 2
Small face 10
Sparse eyebrow 40
Sparse eyelashes 29
Sparse scalp hair 41
Spermatic cord torsion 12
Telecanthus 62
Thin skin 44
Wizened face 9
facial deformity 44
muscle degeneration 136
Disease Target Count P-value
ovarian cancer 8297 1.3e-04
psoriasis 6514 2.8e-03
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.5
Disease Target Count Z-score Confidence
Ehlers-Danlos syndrome 43 6.094 3.0
Disease Target Count Z-score Confidence
Larsen syndrome 10 4.78 2.4
Desbuquois dysplasia 13 3.732 1.9
Sclerocornea 29 3.355 1.7

Expression

  Differential Expression (2)

Disease log2 FC p
ovarian cancer 1.100 1.3e-04
psoriasis 1.100 2.8e-03

Gene RIF (10)

AA Sequence

MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSG      1 - 70
PPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFN     71 - 140
RAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQH    141 - 210
YRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFK    211 - 280
VDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS                           281 - 327
//

Text Mined References (22)

PMID Year Title