Property Summary

NCBI Gene PubMed Count 93
PubMed Score 491.17
PubTator Score 192.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of the femur 6
Abnormality of the humerus 6
Abnormality of the metaphyses 48
Abnormality of the tibia 9
Absent mandible 6
Anteverted nostril 191
Aplasia/Hypoplasia of the mandible 3
Aseptic Necrosis of Bone 8
Aseptic necrosis 8
Autosomal recessive predisposition 1442
Bone infarction 8
Bone necrosis 9
Bone pain 42
Bulbous nasal tip 48
Bulbous nose 48
Bushy eyebrows 49
Cervical myelopathy 6
Cone-shaped epiphyses of phalanges 15
Cranial nerve palsies 11
Decreased projection of lower jaw 3
Deep philtrum 21
Deficiency of lower jaw 3
Delayed bone age 136
Dental abnormalities 60
Depressed philtrum 21
Dull intelligence 645
Failure to gain weight 365
Foot Deformities 30
Hip joint varus deformity - observation 24
Intellectual disability 1016
Joint hyperflexibility 78
Knee joint valgus deformity 56
Langer-Giedion Syndrome 2
Long philtrum 137
Low intelligence 645
Low-set, posteriorly rotated ears 110
Madelung Deformity 5
Madelung-like forearm deformities 2
Mandibular Retrusion 3
Mental Retardation 645
Mental deficiency 645
Micromelia 58
Multiple exostoses of long tubular bones 2
Muscle Weakness 170
Pediatric failure to thrive 365
Pelvic exostoses 3
Peripheral nerve compression 2
Poor school performance 645
Potato nose 48
Prominent ear 56
Protruding ears 56
Protuberances at ends of long bones 2
Radial bowing 13
Redundant skin 28
Rib exostoses 2
Scapular exostoses 2
Short metacarpal 43
Short stature 531
Short ulnae 24
Sparse scalp hair 42
Thin upper lip vermilion 67
Tooth Abnormalities 69
ULNAR HYPOPLASIA 24
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.7

Expression

  Differential Expression (13)

Disease log2 FC p
adult high grade glioma -1.200 4.3e-04
Breast cancer -1.100 1.8e-06
cystic fibrosis and chronic rhinosinusit... -1.088 1.1e-02
esophageal adenocarcinoma 1.400 1.8e-02
gastric carcinoma 1.100 1.3e-02
Gaucher disease type 1 -1.300 2.9e-02
glioblastoma -1.100 4.2e-05
group 4 medulloblastoma -1.200 4.5e-04
invasive ductal carcinoma -1.200 3.1e-03
lung carcinoma -1.200 2.1e-17
nasopharyngeal carcinoma 1.200 6.2e-04
osteosarcoma 1.160 3.0e-02
ovarian cancer -1.500 3.3e-05

Protein-protein Interaction (3)

Gene RIF (65)

AA Sequence

MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQ      1 - 70
LENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEG     71 - 140
SRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFD    141 - 210
IGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTR    211 - 280
NALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEA    281 - 350
LQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE    351 - 420
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPL    421 - 490
VSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIEGESKVMSSRFLPYDNIITDA    491 - 560
VLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYSMVLTGAAIYHKYY    561 - 630
HYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQ    631 - 700
RQSCMNTFASWFGYMPLIHSQMRLDPVLFKDQVSILRKKYRDIERL                            701 - 746
//

Text Mined References (93)

PMID Year Title