Property Summary

NCBI Gene PubMed Count 74
PubMed Score 138.31
PubTator Score 91.16

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
ANONYCHIA 20
Abnormal finger flexion creases 3
Abnormality of the tibia 9
Absence of toe 4
Absent carpal bones 2
Absent finger 4
Absent toenails (anonychia) 7
Absent ulnae 2
Absent wrist bone 2
Ankylosis of the elbow joint 7
Aplasia/Hypoplasia involving the carpal bones 1
Aplasia/Hypoplasia involving the metacarpal bones 5
Aplasia/Hypoplasia involving the pelvis 2
Aplasia/Hypoplasia of metatarsal bones 3
Aplasia/Hypoplasia of the 5th finger 1
Aplasia/Hypoplasia of the phalanges of the toes 2
Aplasia/Hypoplasia of the sacrum 2
Aplastic pubic bones 1
Aplastic/hypoplastic phalanges 3
Aplastic/hypoplastic tarsals 1
Autosomal recessive predisposition 1442
Bipartite clavicle 5
Broad flat nasal bridge 236
Byzanthine arch palate 194
Claw hand 26
Congenital Epicanthus 177
Congenital clinodactyly 57
Congenital clubfoot 109
Congenital hemivertebra 25
Congenital hypoplasia of radius 23
Congenital pectus carinatum 52
Curvature of digit 57
Ectrodactyly 7
Femoral bowing 20
Fetal Growth Retardation 189
Fibular aplasia 6
Flexion contracture - elbow 32
Genitourinary Neoplasms 3
Hip Dislocation, Congenital 48
Hypoplasia of nipple 16
Hypoplasia or unilateral/bilateral absence of ulna 3
Hypoplastic feet 66
Hypoplastic iliac wing 19
Hypoplastic mandible condyle 275
Hypoplastic pelvis 9
Hypoplastic to absent femora 1
Hypoplastic/aplastic fibulae 5
Hypoplastic/aplastic pubic bones 2
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Long ears 2
Low set ears 181
Mandibular hypoplasia 275
Micrognathism 275
Micromelia 58
Nail dysplasia 52
Narrow palate 20
Nasal bridge wide 236
Patellar aplasia 8
Penile hypospadias 106
Phocomelia 2
Pilonidal Cyst 1
Pseudoarthrosis of clavicle 5
Radial bowing 13
Radial ray hypoplasia 23
Radiohumeral synostosis of elbow 8
Ramer Ladda syndrome 8
Short neck 140
Short stature 531
Short stature, disproportionate 9
Short stature, severe disproportionate 9
Soft calvaria 8
Syndactyly of the toes 45
Ulnar deviation of the fingers 21
Ulnar polydactyly of fingers 47
Uterus absent (finding) 4
menstrual periods stopped for over 6 months 13
ovarian neoplasm 99
Disease Target Count P-value
ovarian cancer 8520 9.9e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count
Phocomelia, Schinzel type 1

Expression

  Differential Expression (1)

Disease log2 FC p
ovarian cancer 1.200 9.9e-05

Gene RIF (52)

AA Sequence

MNRKARRCLGHLFLSLGMVYLRIGGFSSVVALGASIICNKIPGLAPRQRAICQSRPDAIIVIGEGSQMGL      1 - 70
DECQFQFRNGRWNCSALGERTVFGKELKVGSREAAFTYAIIAAGVAHAITAACTQGNLSDCGCDKEKQGQ     71 - 140
YHRDEGWKWGGCSADIRYGIGFAKVFVDAREIKQNARTLMNLHNNEAGRKILEENMKLECKCHGVSGSCT    141 - 210
TKTCWTTLPQFRELGYVLKDKYNEAVHVEPVRASRNKRPTFLKIKKPLSYRKPMDTDLVYIEKSPNYCEE    211 - 280
DPVTGSVGTQGRACNKTAPQASGCDLMCCGRGYNTHQYARVWQCNCKFHWCCYVKCNTCSERTEMYTCK     281 - 349
//

Text Mined References (76)

PMID Year Title