Property Summary

Ligand Count 38
NCBI Gene PubMed Count 104
PubMed Score 278.60
PubTator Score 137.68

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Lipodystrophy 40
Panniculitis 9
Abnormality of the Leydig cells 2
Adipose tissue loss 3
Arthralgia 90
Arthrogryposis 54
Autosomal recessive predisposition 1442
Basal ganglia calcification 27
Bone pain 42
Cardiomegaly 116
Clubbed Fingers 4
Clubbing of toes 3
Congenital clubfoot 109
Congestive heart failure 113
Conjunctivitis 53
Conjunctivitis, recurrent 37
ESR raised 20
Elevated hepatic transaminases 81
Episcleritis 3
Erythema 58
Erythema Nodosum 3
Exanthema 43
Failure to gain weight 365
Flexion contracture - elbow 32
Flexion contracture of proximal interphalangeal joint 75
Flushing 60
Full lower lip 64
Generalized osteopenia 99
Globe of eye large 20
Globulin gamma serum plasma increased result 9
Heart failure 162
Hepatic enzyme increased 81
Hepatomegaly 285
Hypergammaglobulinemia 10
Hyperglobulinemia 9
Hyperhidrosis disorder 81
Hyperostosis 18
Hyperpigmentation 37
Hyperplasia of nose 23
Hypertriglyceridemia result 37
Hypertrophy of nose 23
Increased size of palpebral fissures 9
Increased sweating 81
Intermittent fever 15
Iron-Refractory Iron Deficiency Anemia 15
Joint stiffness 84
Large auricle 87
Large dysplastic ears 87
Large eyes 9
Large nose 23
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lipoatrophy 19
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Long fingers 9
Lymphadenopathy 62
Macroglossia 65
Macrotia 87
Mild Mental Retardation 70
Multiple, subcutaneous nodules 53
Muscle Weakness 170
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Osteopenia 99
Pediatric failure to thrive 365
Prominent lower lip 64
Raised level of immunoglobulins NOS 9
Skeletal muscle atrophy 139
Splenomegaly 190
Subclinical abnormal liver function tests 81
Subcutaneous nodule 53
Sweating 81
Toe contractures 5
Transaminases increased 81
gamma globulins increased 9
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
JMP syndrome 2 4.418 2.2
Cancer 2499 3.528 1.8

Expression

  Differential Expression (25)

Disease log2 FC p
active Crohn's disease 1.363 4.0e-03
acute myeloid leukemia -1.300 4.5e-02
adult high grade glioma 1.700 1.7e-05
astrocytoma 1.300 2.4e-14
Astrocytoma, Pilocytic 2.300 6.9e-13
chronic kidney disease 1.200 1.8e-02
dermatomyositis 2.100 8.8e-03
Duchenne muscular dystrophy 1.065 2.6e-10
ependymoma 1.800 1.5e-11
esophageal adenocarcinoma 1.200 1.8e-02
glioblastoma 2.000 4.1e-09
interstitial cystitis 1.200 6.0e-03
juvenile dermatomyositis 3.347 4.5e-22
limb girdle muscular dystrophy 2I 1.255 1.0e-02
lung cancer -2.300 8.7e-06
lung carcinoma -1.300 7.7e-18
malignant mesothelioma -2.100 5.4e-08
Multiple myeloma 1.850 2.3e-04
oligodendroglioma 1.200 8.7e-10
osteosarcoma -1.170 7.4e-03
ovarian cancer -1.600 5.5e-03
pancreatic cancer 1.100 1.2e-03
primary Sjogren syndrome 1.300 5.3e-03
subependymal giant cell astrocytoma 1.968 2.3e-02
Waldenstrons macroglobulinemia 1.219 1.3e-02

Gene RIF (99)

AA Sequence

MALLDVCGAPRGQRPESALPVAGSGRRSDPGHYSFSMRSPELALPRGMQPTEFFQSLGGDGERNVQIEMA      1 - 70
HGTTTLAFKFQHGVIAAVDSRASAGSYISALRVNKVIEINPYLLGTMSGCAADCQYWERLLAKECRLYYL     71 - 140
RNGERISVSAASKLLSNMMCQYRGMGLSMGSMICGWDKKGPGLYYVDEHGTRLSGNMFSTGSGNTYAYGV    141 - 210
MDSGYRPNLSPEEAYDLGRRAIAYATHRDSYSGGVVNMYHMKEDGWVKVESTDVSDLLHQYREANQ        211 - 276
//

Text Mined References (115)

PMID Year Title