Property Summary

NCBI Gene PubMed Count 54
PubMed Score 1057.11
PubTator Score 268.86

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Pelger-Huet anomaly 8 6.635 3.3
Greenberg Dysplasia 1 0.0 0.0
Reynolds syndrome 1 0.0 0.0
Disease Target Count
Primary biliary cirrhosis 51
11 pairs of ribs 7
Abnormal foot bone ossification 3
Abnormal lung lobation 10
Abnormal maturation of foot bones 3
Abnormal maturation of the pelvis bone 3
Abnormal ossification involving bones of the feet 3
Abnormal ossification involving the femoral head and neck 2
Abnormal pelvis bone ossification 3
Abnormal vertebral ossification 5
Abnormality of cholesterol metabolism 3
Abnormality of chromosome segregation 3
Abnormality of position of teeth 8
Abnormality of the calcaneus 2
Abnormality of the gastric mucosa 2
Abnormality of the scapula 3
Abnormality of the vertebral spinous processes 1
Absent or minimally ossified vertebral bodies 3
Absent toenails (anonychia) 7
Alkaline phosphatase serum increased 29
Angioectasias of the lip 4
Anterior rib punctate calcifications 1
Arthritis 290
Arthropathy 43
Autosomal recessive predisposition 1442
Barrel chest 12
Big calvaria 147
Biliary cirrhosis 45
Bone marrow hypocellularity 20
Bowing of the long bones 31
Brachydactyly 156
Bulging forehead 66
Calcification of trachea 3
Calcinosis 70
Calvarial defect 10
Cardiomegaly 116
Cognitive delay 608
Concave bridge of nose 195
Congenital hypoplasia of lung 48
Congenital malrotation of intestine 16
Congenital omphalocele 20
Cranial defect 10
Decreased calcification of skull 10
Decreased projection of maxilla 66
Decreased projection of midface 105
Defect of skull ossification 10
Deficiency of upper jaw bones 66
Deglutition Disorders 132
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diaphyseal thickening 11
Dry Eye Syndromes 8
Elevated hepatic transaminases 81
Exanthema 43
Extramedullary Hematopoiesis (disorder) 5
Extramedullary erythropoiesis 5
Fatigue 182
Fever 138
Fibular polydactyly 12
Gastroesophageal reflux disease 110
Gastrointestinal Hemorrhage 52
Global developmental delay 608
HEM dysplasia 1
Heartburn 78
Hepatic calcification 2
Hepatic enzyme increased 81
Hepatomegaly 285
Hepatosplenomegaly 22
High forehead 102
Horizontal sacrum 3
Hydrops Fetalis, Non-Immune 8
HyperCalcification of skull base 5
HyperMineralization of skull base 5
Hypoplasia of the maxilla 66
Hypoplastic fingernails 11
Hypoplastic mandible condyle 275
Hypoplastic vertebral bodies 7
Hyposegmentation of neutrophil nuclei 2
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Icterus 82
Increased bilirubin level (finding) 18
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Irregular hyperpigmentation 33
Islets of Langerhans hyperplasia 11
Keratitis sicca 6
Keratoconjunctivitis sicca 25
Laryngeal calcification 2
Lethal skeletal dysplasia 6
Lip telangiectases 4
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Long clavicle 7
Low set ears 181
Lymphangioma, Cystic 21
Lymphatic obstruction 21
Lymphedema 42
Malar flattening 129
Mandibular hypoplasia 275
Maxillary retrognathia 66
Mental and motor retardation 608
Mesomelia 8
Metaphyseal cupping 10
Micrognathism 275
Micromelia 58
Midface retrusion 105
Misalignment of teeth 8
Mucosal telangiectasiae 14
Multiple fractures present at birth 5
Myalgia 54
Narrow thorax 53
Neonatal Death 14
Onset of lymphedema around puberty 21
Orbital separation excessive 244
Palmar telangiectasia 2
Patchy variation in bone mineral density 1
Platyspondyly 56
Pleural effusion disorder 6
Polydactyly 107
Polyhydramnios 108
Postaxial foot polydactyly 12
Pre-Eclampsia 68
Prominent forehead 66
Pruritus 58
Punctate vertebral calcifications 2
Retrusion of upper jaw bones 66
Rhizomelia 25
Sandal gap 24
Sclerodactyly 1
Scleroderma 7
Scleroderma-like secondary cutaneous sclerosis 7
Sclerosis of skull base 5
Severe hydrops fetalis 1
Severe short-limb dwarfism 4
Short diaphyses 1
Short limb dwarfism, disproportionate 22
Short phalanx of finger 32
Short ribs 30
Skin Ulcer 48
Skull defect 10
Small midface 105
Spade-like hand 16
Spider veins of the lip 4
Splayed metaphyses 19
Splenomegaly 190
Steatorrhea 34
Sternal punctate calcifications 1
Stillbirth 17
Stippled epiphyses 28
Subclinical abnormal liver function tests 81
Supernumerary vertebral ossification centers 2
Tall forehead 102
Telangiectasia of the skin 39
Transaminases increased 81
Ulnar deviation of hand 9
Ulnar polydactyly of fingers 47
White blood cell abnormality 1
Xerophthalmia 16
Xerostomia 42
joint abnormality 5
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8

Expression

  Differential Expression (21)

Disease log2 FC p
acute quadriplegic myopathy 1.008 7.0e-06
adult high grade glioma 1.400 5.1e-04
astrocytoma 1.200 1.2e-21
Astrocytoma, Pilocytic 1.300 1.4e-06
atypical teratoid / rhabdoid tumor 1.400 1.1e-03
Breast cancer 1.600 3.7e-06
Chronic Lymphocytic Leukemia -1.144 8.1e-03
dermatomyositis 1.900 1.4e-04
ependymoma 1.200 7.0e-07
gastric carcinoma 1.100 2.4e-02
glioblastoma 1.700 1.8e-08
group 3 medulloblastoma 2.300 9.3e-06
juvenile dermatomyositis 1.022 5.1e-11
lung cancer 1.100 3.7e-03
medulloblastoma, large-cell 2.100 1.7e-05
oligodendroglioma 1.300 4.8e-14
osteosarcoma -2.657 2.6e-06
ovarian cancer 1.100 4.3e-02
primary Sjogren syndrome 1.500 2.5e-03
primitive neuroectodermal tumor 2.200 5.3e-06
Waldenstrons macroglobulinemia 1.517 6.4e-03

 GWAS Trait (1)

Protein-protein Interaction (3)

Gene RIF (25)

AA Sequence

MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELKENDIKPLTSFRQRKGGSTSS      1 - 70
SPSRRRGSRSRSRSRSPGRPPKSARRSASASHQADIKEARREVEVKLTPLILKPFGNSISRYNGEPEHIE     71 - 140
RNDAPHKNTQEKFSLSQESSYIATQYSLRPRREEVKLKEIDSKEEKYVAKELAVRTFEVTPIRAKDLEFG    141 - 210
GVPGVFLIMFGLPVFLFLLLLMCKQKDPSLLNFPPPLPALYELWETRVFGVYLLWFLIQVLFYLLPIGKV    211 - 280
VEGTPLIDGRRLKYRLNGFYAFILTSAVIGTSLFQGVEFHYVYSHFLQFALAATVFCVVLSVYLYMRSLK    281 - 350
APRNDLSPASSGNAVYDFFIGRELNPRIGTFDLKYFCELRPGLIGWVVINLVMLLAEMKIQDRAVPSLAM    351 - 420
ILVNSFQLLYVVDALWNEEALLTTMDIIHDGFGFMLAFGDLVWVPFIYSFQAFYLVSHPNEVSWPMASLI    421 - 490
IVLKLCGYVIFRGANSQKNAFRKNPSDPKLAHLKTIHTSTGKNLLVSGWWGFVRHPNYLGDLIMALAWSL    491 - 560
PCGFNHILPYFYIIYFTMLLVHREARDEYHCKKKYGVAWEKYCQRVPYRIFPYIY                   561 - 615
//

Text Mined References (64)

PMID Year Title