Property Summary

Ligand Count 7
NCBI Gene PubMed Count 89
PubMed Score 86.83
PubTator Score 61.39

Knowledge Summary

Patent (9,109)

TINX Plot

  Disease (8)

Disease Target Count
Brachydactyly 156
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 1
Abnormal skeletal development 60
Abnormality of epiphysis morphology 39
Abnormality of the fingernails 51
Abnormality of the hip bone 16
Abnormality of the radius 3
Abnormality of the tibia 9
Abnormality of the ulna 10
Absent/hypoplastic middle phalanx of 5th finger 4
Aplasia of the middle phalanges of the toes 2
Aplasia of the proximal phalanges of the hand 1
Aplasia/Hypoplasia involving the metacarpal bones 5
Aplasia/Hypoplasia of the 1st metacarpal 2
Aplasia/Hypoplasia of the middle phalanges of the toes 5
Autosomal recessive predisposition 1442
BRACHYDACTYLY, TYPE A1 (disorder) 3
Bilateral fifth finger clinodactyly 110
Bilateral single transverse palmar creases 34
Bowing of the long bones 31
Brachydactyly syndrome type C 2
Brachydactyly type C 2
Bracket epiphysis of the middle phalanx of the 2nd finger 3
Bracket epiphysis of the middle phalanx of the 5th finger 3
Broad feet 19
Broad hallux 29
Bunion 26
Carpal synostosis 12
Complete duplication of distal phalanx of the thumb 2
Cone-shaped epiphyses 24
Congenital clubfoot 109
Curvature of little finger 110
Decreased joint mobility 53
Fibular aplasia 6
Fibular hypoplasia 9
Hallux Valgus 26
Hypoplasia of thumb 26
Hypoplastic feet 66
Hypoplastic finger 17
Hypoplastic toes 29
Hypoplastic/aplastic fibulae 5
Hypoplastic/aplastic middle phalanx (2nd finger) 4
Infantile uterus 23
Joint stiffness 84
Medially deviated second toe 3
Micromelia 58
Narrow nose 20
Osteochondrodysplasias 72
Pinched bridge of nose 14
Pinched nasal bridge 14
Primary hypogonadism 37
Primary physiologic amenorrhea 55
Pseudoepiphyses of the 2nd finger 2
Radially deviated fingers 38
Sarcoma 62
Second finger clinodactyly 5
Short femoral neck 15
Short finger 17
Short hallux 16
Short index finger 6
Short limb dwarfism, disproportionate 22
Short metatarsal 21
Short middle phalanges 12
Short middle phalanx of the 5th finger 13
Short phalanx of finger 32
Short stature 531
Short tibia 9
Short ulnae 24
Simple syndactyly of toes, first web space 23
Stippling of the epiphysis of the distal phalanx of the thumb 2
Synostosis of carpal bones 9
Tarsal Coalition 12
Thumb absent or hypoplastic 9
Thumb deformity 3
Triangular shaped middle phalanx of the 2nd finger 3
Triangular shaped middle phalanx of the 5th finger 3
ULNAR HYPOPLASIA 24
Ulnar angulation of the index finger 5
Ulnar deviation of the fingers 21
Ulnar polydactyly of fingers 47
Widened proximal tibial metaphyses 1
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Disease Target Count Z-score Confidence
Primary pulmonary hypertension 14 0.0 5.0

Expression

  Differential Expression (20)

Disease log2 FC p
Alzheimer's disease 1.200 2.9e-02
atypical teratoid / rhabdoid tumor 1.500 2.3e-03
Breast cancer 1.100 2.5e-02
breast carcinoma 3.000 1.6e-04
cystic fibrosis 1.698 7.1e-05
Endometriosis -1.408 7.2e-03
ependymoma 1.400 1.4e-05
glioblastoma 1.100 2.7e-04
group 3 medulloblastoma -2.200 5.4e-03
head and neck cancer -1.200 3.4e-03
head and neck cancer and chronic obstruc... -1.300 2.1e-04
Hydrolethalus syndrome -1.398 4.6e-02
intraductal papillary-mucinous adenoma (... -1.900 6.7e-03
invasive ductal carcinoma 1.500 2.0e-02
lung carcinoma 2.100 1.2e-07
medulloblastoma, large-cell 1.200 1.7e-04
nasopharyngeal carcinoma -1.300 1.9e-03
ovarian cancer 1.600 3.1e-02
Pick disease 2.900 9.8e-07
pituitary cancer -1.900 5.7e-04

Gene RIF (47)

AA Sequence

MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEEDDSGLPVVTSG      1 - 70
CLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVDGPIHHRALLISVTVCSLLLV     71 - 140
LIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLIEQSQSSGSGSGLPLLVQRTIAKQIQMVKQI    141 - 210
GKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITD    211 - 280
YHENGSLYDYLKSTTLDAKSMLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIAD    281 - 350
LGLAVKFISDTNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIV    351 - 420
EEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPASRLTALRVKKT    421 - 490
LAKMSESQDIKL                                                              491 - 502
//

Text Mined References (92)

PMID Year Title