Property Summary

NCBI Gene PubMed Count 95
PubMed Score 707.63
PubTator Score 199.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Male infertility 206
11 pairs of ribs 7
Abnormality of the ribs 32
Abnormality of the scapula 3
Acrocephaly 12
Atrial Septal Defects 85
Atrioventricular block 35
Atrioventricular nodal disease 10
Autosomal recessive predisposition 1442
Brachydactyly 156
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cardiopulmonary Arrest 3
Cerebellar Hypoplasia 61
Concave bridge of nose 195
Conduction disorder of the heart 79
Cone-shaped epiphyses of phalanges 15
Congenital clubfoot 109
Cupped ribs 3
Delayed bone age 136
Delayed epiphyseal ossification 10
Delayed maturation of end part of long bone 10
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Disproportionately long fibula 4
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Flared iliac wings 13
Flared ribs 3
Flat acetabular roof 10
Focal lissencephaly 1
Generalized hypotonia 37
Hypoplastic finger 17
Hypoplastic toes 29
Impaired glucose tolerance 28
Irregular lacy iliac crest 3
Irregular tarsal bones 1
Large posterior fontanelle 3
Mammary Neoplasms 425
Metacarpal cone-shaped epiphyses 3
Metaphyseal chondrodysplasia 7
Metaphyseal cupping 10
Metaphyseal irregularity 23
Muscle hypotonia 571
Narrow sacrosciatic notch 6
Narrow thorax 53
Platyspondyly 56
Porencephaly 20
Posteriorly rotated ear 61
Redundant skin 28
Rhizomelia 25
Rhizomelic arm shortening 1
Short finger 17
Short hands 50
Short metacarpal 43
Short neck 140
Short phalanx of finger 32
Short ribs 30
Short tubular bones 22
Strudwick syndrome 5
Widened sacrosciatic notch 1

Expression

  Differential Expression (4)

Disease log2 FC p
ductal carcinoma in situ -1.100 3.1e-03
Multiple myeloma 1.208 7.4e-03
ovarian cancer 1.500 2.2e-04
primary pancreatic ductal adenocarcinoma 1.044 1.9e-02

Gene RIF (83)

AA Sequence

MSLGRLCRLLKPALLCGALAAPGLAGTMCASRDDWRCARSMHEFSAKDIDGHMVNLDKYRGFVCIVTNVA      1 - 70
SQUGKTEVNYTQLVDLHARYAECGLRILAFPCNQFGKQEPGSNEEIKEFAAGYNVKFDMFSKICVNGDDA     71 - 140
HPLWKWMKIQPKGKGILGNAIKWNFTKFLIDKNGCVVKRYGPMEEPLVIEKDLPHYF                 141 - 197
//

Text Mined References (98)

PMID Year Title