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 25
Abnormal skeletal development 60
Absent earlobe 9
Acquired flat foot 72
Aortic valve stenosis 28
Arachnodactyly 49
Atrophic scar 18
Autosomal recessive predisposition 1442
Big calvaria 147
Broad flat nasal bridge 236
Cleft uvula 27
Cognitive delay 608
Congenital Epicanthus 177
Congenital anomaly of face 56
Congenital hypoplasia of clavicle 18
Contracture 96
Contracture of joint 93
Coxa valga 22
Coxa valga deformity 22
Cryptorchidism 296
Cutis Laxa 39
Cutis gyrata of palms and soles 2
Distortion of face 46
Dysmorphic facies 46
Exophthalmos 112
Failure to gain weight 365
Flatfoot 73
Flexion contracture 93
Flexion contractures of joints 93
Funny looking face 46
Generalized elastolysis 24
Generalized osteopenia 99
Gingivitis 29
Global developmental delay 608
Hanging skin 24
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Joint laxity 54
Lipodystrophy 40
Long toes 5
Mental and motor retardation 608
Microstomia 78
Muscle hypotonia 571
Narrow thorax 53
Nasal bridge wide 236
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Osteochondrodysplasias 72
Osteopenia 99
Pediatric failure to thrive 365
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Pulmonary Stenosis 45
Short stature 531
Single transverse palmar crease 29
Skeletal muscle atrophy 139
Skin hyperelastic 32
Slender toe 2
Small face 10
Sparse eyebrow 42
Sparse eyelashes 31
Sparse scalp hair 42
Spermatic cord torsion 12
Telecanthus 62
Thin skin 47
Wizened face 9
facial deformity 46
muscle degeneration 139
Disease Target Count P-value
ovarian cancer 8520 1.3e-04
psoriasis 6694 2.8e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 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