Property Summary

NCBI Gene PubMed Count 20
PubMed Score 97.45
PubTator Score 36.82

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal cortical bone morphology 22
Abnormality of epiphysis morphology 39
Abnormality of metabolism/homeostasis 134
Abnormality of the ankles 5
Abnormality of the hip bone 16
Abnormality of the knee 6
Absent reflex 92
Absent tendon reflex 92
Acral ulceration leading to autoamputation of digits 3
Acro-Osteolysis 12
Anhidrosis 23
Autosomal recessive predisposition 1442
Axonal neuropathy 27
Decreased bone mineral density Z score 31
Decreased nerve conduction velocity 35
Decreased number of large and small myelinated fibers 20
Decreased sensory nerve conduction velocities (NCV) 8
Decreased tendon reflex 122
Disorder of eye 27
Dystrophic fingernails 18
Dystrophic toenail changes 12
Eye Abnormalities 35
Feeding difficulties in infancy 175
Foot acroosteolysis 5
Gastroesophageal reflux disease 110
Heartburn 78
Hereditary Motor and Sensory-Neuropathy Type II 4
Hyperhidrosis disorder 81
Hyperhidrosis, episodic 4
Hypogeusia 5
Increased sweating 81
Infantile onset 238
Infection of bone 19
Lordosis 54
Muscle Spasticity 195
Muscle hypotonia 571
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Neuropathy 261
Osteomyelitis 42
Painless fractures due to injury 5
Paronychia Inflammation 9
Peripheral Neuropathy 134
Peripheral axonal neuropathy 18
Progressive disorder 142
Reflex, Deep Tendon, Absent 92
Skeletal muscle atrophy 139
Slow progression 89
Structure of wormian bone 24
Sweating 81
Tapering fingers (finding) 25
Urinary Incontinence 50
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0
Disease Target Count Z-score Confidence
Familial hemophagocytic lymphohistiocytosis 2 15 3.645 1.8

Expression

  Differential Expression (23)

Disease log2 FC p
acute myeloid leukemia -1.500 5.4e-03
adult high grade glioma -1.300 2.2e-04
astrocytic glioma -1.500 2.7e-02
Atopic dermatitis -1.300 1.8e-04
atypical teratoid / rhabdoid tumor -2.200 1.2e-06
chronic rhinosinusitis -1.377 8.0e-03
colon cancer -1.700 3.2e-02
Common variable immunodeficiency -1.134 4.6e-03
cutaneous lupus erythematosus -1.300 5.5e-03
cystic fibrosis -1.400 7.9e-05
esophageal adenocarcinoma 1.400 1.9e-02
glioblastoma -1.200 5.8e-04
group 3 medulloblastoma -1.900 5.5e-05
lung adenocarcinoma -1.100 9.9e-11
lung cancer 1.200 1.5e-04
malignant mesothelioma -3.300 4.4e-07
medulloblastoma, large-cell -2.900 2.6e-05
non diabetic and post-ischemic heart fai... 1.100 2.0e-02
non-small cell lung cancer -1.399 2.0e-08
ovarian cancer -1.700 9.4e-13
primitive neuroectodermal tumor -1.600 2.8e-03
psoriasis -1.600 3.6e-10
tuberculosis and treatment for 6 months -1.200 1.6e-02

Gene RIF (15)

AA Sequence

MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQEEEAQEAGAAEGAGLQVEEAAGRAAAAVTW      1 - 70
LLGEPVLWLGCRADELLSWKRPLRSLLGFVAANLLFWFLALTPWRVYHLISVMILGRVIMQIIKDMVLSR     71 - 140
TRGAQLWRSLSESWEVINSKPDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLVCSVCTFFTIL    141 - 210
GSYIPGVILSYLLLLCAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKSHKDD    211 - 280
SELDFSALCPKISLTVAAKELSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSEEVFSRDLSDF    281 - 350
PSLENGMGTNDEDELSLGLPTELKRKKEQLDSGHRPSKETQSAAGLTLPLNSDQTFHLMSNLAGDVITAA    351 - 420
VTAAIKDQLEGVQQALSQAAPIPEEDTDTEEGDDFELLDQSELDQIESELGLTQDQEAEAQQNKKSSGFL    421 - 490
SNLLGGH                                                                   491 - 497
//

Text Mined References (23)

PMID Year Title