Property Summary

Ligand Count 140
NCBI Gene PubMed Count 333
PubMed Score 1617.11
PubTator Score 904.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Dementia 175
Thrombocytopenia 197
Anemia 365
Abdominal Pain 98
Abnormal respiratory patterns 20
Abnormality of aortic arch 9
Adult onset 82
Akinesia 13
Anorexia 43
Anteverted nostril 191
Aortic calcification 2
Aortic stenosis due to calcifications 1
Apathy 16
Apnea 45
Arthrogryposis 54
Ascites 22
Aseptic Necrosis of Bone 8
Aseptic necrosis 8
Atrophoderma maculatum 4
Autosomal dominant late onset Parkinson disease 7
Autosomal recessive predisposition 1442
Bone infarction 8
Bone necrosis 9
Bone pain 42
Bulbar signs 4
Byzanthine arch palate 194
Cardiomegaly 116
Cerebellar Ataxia 304
Cerebral atrophy 178
Cloudy cornea 33
Cognitive delay 608
Collapse of vertebra 14
Compression fracture of vertebral column 14
Concave bridge of nose 195
Congenital Nonbullous Ichthyosiform Erythroderma 16
Congenital deafness 185
Congenital pes cavus 88
Congenital small ears 48
Contracture 96
Contracture of joint 93
Corneal stromal opacities 33
Coughing 25
Deafness 198
Death in early childhood 82
Death in infancy 82
Decrease in jaw opening 5
Decreased beta-glucocerebrosidase protein and activity 1
Decreased platelet count 111
Defective or absent horizontal voluntary eye movements 25
Degenerative brain disorder 100
Deglutition Disorders 132
Delayed Puberty 97
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive disorder 409
Desquamation of skin soon after birth 10
Dilated ventricles (finding) 121
Drooping upper lip 4
Dyspnea 76
Dystonia 164
Dystonic disease 106
Early severe fetal akinesia sequence 11
Ecchymosis 66
Ectropion 38
Encephalopathies 43
Epilepsies, Myoclonic 32
Epilepsy 792
Epistaxis 43
Erlenmeyer flask femora 4
Esotropia 31
Everted lower lip vermilion 54
Everted upper lip vermilion 4
Failure to gain weight 365
Fatigue 182
Feeding difficulties 127
Fetal Growth Retardation 189
Flexion contracture 93
Flexion contractures of joints 93
Gait abnormality 135
Gaucher Disease, Type 2 (disorder) 1
Gaucher Disease, Type 3 (disorder) 1
Gaucher-like disease 1
Generalized myoclonic seizures 30
Generalized osteopenia 99
Gingival Hemorrhage 18
Global developmental delay 608
Globulin gamma serum plasma increased result 9
Hearing Loss, Partial 185
Hemoglobin low 124
Hepatomegaly 285
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Horizontal Nystagmus 10
Horizontal supranuclear gaze palsy 1
Hydrocephalus 152
Hydrops Fetalis 21
Hydrops Fetalis, Non-Immune 8
Hypergammaglobulinemia 10
Hyperglobulinemia 9
Hyperkeratosis 50
Hyperkyphosis 111
Hyperpigmentation 37
Hyperreflexia 209
Hypersplenism 10
Hypokinesia 19
Hypometric horizontal saccades 1
Hypoplastic mandible condyle 275
Idiopathic pulmonary arterial hypertension 40
Increased susceptibility to fractures 21
Increased tendency to bruise 66
Infant, Small for Gestational Age 176
Intracranial Hemorrhages 16
Intrauterine retardation 176
Kyphosis deformity of spine 114
Limited jaw mobility 5
Limited jaw opening 5
Liver Failure 73
Low set ears 181
Low-set, posteriorly rotated ears 110
Lung Diseases, Interstitial 5
Lytic lesion 32
Mandibular hypoplasia 275
Mental and motor retardation 608
Micrognathism 275
Microstomia 78
Mitral stenosis due to calcifications 1
Motor delay 147
Multiple myeloma 1332
Muscle Hypertonia 88
Muscle Rigidity 49
Muscle Spasticity 195
Muscle hypotonia 571
Myoclonic Epilepsies, Progressive 44
Myoclonus 74
Neonatal Death 14
No development of motor milestones 147
Oculomotor apraxia 25
Open mouth 45
Ophthalmoplegia 106
Opisthotonus 14
Orbital separation excessive 244
Osteopenia 99
Osteosclerosis 31
Pancytopenia 45
Paraparesis, Spastic 16
Pathological fracture 20
Pediatric failure to thrive 365
Pena-Shokeir syndrome type I 12
Petechiae 13
Phenotypic variability 150
Plasmacytoma 7
Polyhydramnios 108
Premature Birth 77
Premature birth of newborn 67
Progressive neurologic deterioration 19
Protruding lower lip 54
Protruding upper lip 4
Protuberant abdomen 16
Pulmonary hypertension 86
Purpura 43
Raised level of immunoglobulins NOS 9
Recurrent aspiration pneumonia 4
Recurrent respiratory infections 141
Reduced fetal movement 51
Respiratory distress 43
Reticulate hyperpigmentation 5
Retrognathia 54
Seizures 596
Short nose 132
Short stature 531
Slowed horizontal saccades 1
Small head 374
Small nose 132
Speech Disorders 58
Splenomegaly 190
Stillbirth 17
Strabismus 270
Supranuclear ophthalmoplegia 4
Supratentorial atrophy 94
Thoracic hypoplasia 14
Triangular face 58
Trismus 6
Underweight 17
Vascular Calcification 3
Weight decreased 103
Weight less than 3rd percentile 17
gamma globulins increased 9
hearing impairment 199
pulmonary arterial hypertension 76
Disease Target Count P-value
psoriasis 6694 1.1e-53
diabetes mellitus 1728 2.6e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Lewy body dementia 4 0.0 5.0
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus -1.300 2.6e-03
psoriasis 1.200 1.1e-53

 GWAS Trait (1)

Gene RIF (279)

AA Sequence

MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTF      1 - 70
PALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQ     71 - 140
NLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRP    141 - 210
VSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLL    211 - 280
SGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVH    281 - 350
WYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW    351 - 420
NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMH    421 - 490
PDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ                            491 - 536
//

Text Mined References (350)

PMID Year Title