Property Summary

NCBI Gene PubMed Count 75
PubMed Score 221.27
PubTator Score 110.16

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Abnormal metaphyseal trabeculation 1
Abnormal skeletal development 60
Abnormality of vision 40
Acquired scoliosis 281
Adducted thumb 22
Apnea 45
Asthma 385
Atrophy of dorsum of tongue 1
Atrophy of lingual surface 1
Atrophy of tongue papillae 1
Autonomic nervous system disorders 19
Autosomal recessive predisposition 1442
Blotching pigmentation of the skin 2
Broad ischia 2
Camptodactyly of 5th fingers 2
Cloudy cornea 33
Congenital clubfoot 109
Congenital hypoplasia of lung 48
Corneal stromal opacities 33
Curvature of spine 282
Decrease in jaw opening 5
Decreased pain sensation 17
Decreased projection of midface 105
Defective tooth enamel 31
Deglutition Disorders 132
Dysautonomia 20
Dystrophic tooth enamel 31
Enamel abnormalities 31
Feeding difficulties 127
Feeding difficulties in infancy 175
Femoral bowing 20
Fetal Growth Retardation 189
Flexion contracture - elbow 32
Flexion contracture of proximal interphalangeal joint 75
Frequent fractures 53
Frontal bossing 157
Generalized osteopenia 99
Hoarseness 31
Hyperhidrosis disorder 81
Hypernasal voice 39
Hypohidrosis 34
Hypoplastic iliac body 2
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypotrophic midface 105
Idiopathic pulmonary arterial hypertension 40
Increased fracture rate 53
Increased sweating 81
Infant, Small for Gestational Age 176
Intermittent fever 15
Intrauterine retardation 176
Knee joint valgus deformity 56
Knee reflex absent 1
Lacrimation abnormality 4
Limited jaw mobility 5
Limited jaw opening 5
Low set ears 181
Malar flattening 129
Mandibular hypoplasia 275
Maternal oligohydramnios 31
Metaphyseal widening 22
Micrognathism 275
Micromelia 58
Midface retrusion 105
Muscle hypotonia 571
Myotonia 10
Nasal voice 39
Oligohydramnios 52
Osteochondrodysplasias 72
Osteopenia 99
Osteoporosis 363
Paranoid delusion 1
Paresthesia 32
Pathological fracture 20
Pulmonary artery wall hypertrophy 2
Pulmonary hypertension 86
Pursed lips 2
Rarefaction of the metaphyses 1
Reactive airway disease 21
Respiratory Insufficiency 132
Respiratory distress 43
Respiratory function loss 121
Schizophrenia 1160
Short neck 140
Short nose 132
Short palpebral fissure 38
Short phalanx of finger 32
Short stature 531
Short tibia 9
Single transverse palmar crease 29
Small midface 105
Small nose 132
Smooth dorsum of tongue 1
Splayed metaphyses 19
Square face 3
Stuve-Wiedemann dysplasia 1
Sweating 81
Talipes 20
Talipes foot deformities 20
Talipes valgus 3
Thickened cortex of long bones 4
Thin rib 21
Thin skin 47
Tibial bowing 19
Toe contractures 5
Trismus 6
Ulnar deviation of the fingers 21
Varying degree of multiple fractures 53
Wide nasal base 2
pulmonary arterial hypertension 76
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.3
Kidney cancer 2613 0.0 1.0
Melanoma 711 0.0 0.6
Skin cancer 469 0.0 0.6

Expression

  Differential Expression (32)

Disease log2 FC p
adrenocortical carcinoma -1.063 4.4e-02
astrocytoma 1.400 7.1e-14
atypical teratoid/rhabdoid tumor -1.300 3.9e-02
Breast cancer -3.600 2.2e-02
breast carcinoma -2.000 2.3e-06
colon cancer -2.400 1.4e-06
ductal carcinoma in situ -2.600 1.0e-04
ependymoma 2.000 1.7e-02
gastric carcinoma -1.500 1.8e-02
glioblastoma 1.300 1.1e-02
group 3 medulloblastoma -1.900 9.7e-03
Hydrolethalus syndrome 1.051 4.6e-02
interstitial lung disease -1.300 4.6e-02
intraductal papillary-mucinous adenoma (... -1.700 2.6e-02
intraductal papillary-mucinous carcinoma... -3.100 9.7e-03
intraductal papillary-mucinous neoplasm ... -2.800 1.2e-02
invasive ductal carcinoma -1.750 9.5e-03
lung adenocarcinoma -1.700 1.6e-10
lung cancer -4.000 3.9e-06
lung carcinoma -1.400 5.1e-08
malignant mesothelioma -3.800 1.1e-08
medulloblastoma, large-cell -1.900 1.5e-05
non-small cell lung cancer -1.041 6.7e-10
oligodendroglioma 2.100 3.8e-02
osteosarcoma 3.027 7.2e-04
ovarian cancer -2.400 7.6e-05
pancreatic cancer -1.200 4.7e-04
pancreatic ductal adenocarcinoma liver m... -2.537 4.2e-04
Pick disease 2.000 1.3e-05
pituitary cancer -1.200 1.1e-02
progressive supranuclear palsy -1.200 1.6e-02
psoriasis -1.100 1.5e-03

Gene RIF (44)

AA Sequence

MMDIYVCLKRPSWMVDNKRMRTASNFQWLLSTFILLYLMNQVNSQKKGAPHDLKCVTNNLQVWNCSWKAP      1 - 70
SGTGRGTDYEVCIENRSRSCYQLEKTSIKIPALSHGDYEITINSLHDFGSSTSKFTLNEQNVSLIPDTPE     71 - 140
ILNLSADFSTSTLYLKWNDRGSVFPHRSNVIWEIKVLRKESMELVKLVTHNTTLNGKDTLHHWSWASDMP    141 - 210
LECAIHFVEIRCYIDNLHFSGLEEWSDWSPVKNISWIPDSQTKVFPQDKVILVGSDITFCCVSQEKVLSA    211 - 280
LIGHTNCPLIHLDGENVAIKIRNISVSASSGTNVVFTTEDNIFGTVIFAGYPPDTPQQLNCETHDLKEII    281 - 350
CSWNPGRVTALVGPRATSYTLVESFSGKYVRLKRAEAPTNESYQLLFQMLPNQEIYNFTLNAHNPLGRSQ    351 - 420
STILVNITEKVYPHTPTSFKVKDINSTAVKLSWHLPGNFAKINFLCEIEIKKSNSVQEQRNVTIKGVENS    421 - 490
SYLVALDKLNPYTLYTFRIRCSTETFWKWSKWSNKKQHLTTEASPSKGPDTWREWSSDGKNLIIYWKPLP    491 - 560
INEANGKILSYNVSCSSDEETQSLSEIPDPQHKAEIRLDKNDYIISVVAKNSVGSSPPSKIASMEIPNDD    561 - 630
LKIEQVVGMGKGILLTWHYDPNMTCDYVIKWCNSSRSEPCLMDWRKVPSNSTETVIESDEFRPGIRYNFF    631 - 700
LYGCRNQGYQLLRSMIGYIEELAPIVAPNFTVEDTSADSILVKWEDIPVEELRGFLRGYLFYFGKGERDT    701 - 770
SKMRVLESGRSDIKVKNITDISQKTLRIADLQGKTSYHLVLRAYTDGGVGPEKSMYVVTKENSVGLIIAI    771 - 840
LIPVAVAVIVGVVTSILCYRKREWIKETFYPDIPNPENCKALQFQKSVCEGSSALKTLEMNPCTPNNVEV    841 - 910
LETRSAFPKIEDTEIISPVAERPEDRSDAEPENHVVVSYCPPIIEEEIPNPAADEAGGTAQVIYIDVQSM    911 - 980
YQPQAKPEEEQENDPVGGAGYKPQMHLPINSTVEDIAAEEDLDKTAGYRPQANVNTWNLVSPDSPRSIDS    981 - 1050
NSEIVSFGSPCSINSRQFLIPPKDEDSPKSNGGGWSFTNFFQNKPND                          1051 - 1097
//

Text Mined References (77)

PMID Year Title