Property Summary

NCBI Gene PubMed Count 91
PubMed Score 417.36
PubTator Score 59.18

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Brachydactyly 156
Abnormal skeletal development 60
Abnormality of femoral head development 1
Absent distal interphalangeal creases 4
Acquired scoliosis 281
Autosomal recessive predisposition 1442
BRACHYDACTYLY, TYPE A1 (disorder) 3
Bilateral fifth finger clinodactyly 110
Broad fingernails 3
Broad metacarpal epiphyses 1
Bullet vertebral body 17
Carpal delayed ossification 4
Cone-shaped capital femoral epiphyses 1
Cone-shaped epiphyses 24
Cone-shaped epiphysis of the 1st metacarpal 1
Congenital hypoplasia of femur 8
Congenital hypoplasia of radius 23
Congenital pectus carinatum 52
Cupped ribs 3
Curvature of little finger 110
Curvature of spine 282
Delayed bone age 136
Delayed maturation of wrist bone 4
Dysplastic femoral heads 1
Fibular overgrowth 1
Flared iliac wings 13
Flared ribs 3
Flattened metatarsal heads 2
Genu varum 29
Hip joint varus deformity - observation 24
Hypoplasia of thumb 26
Hypoplastic feet 66
Hypoplastic iliac wing 19
Large distal femoral epiphyses 1
Lordosis 54
Lumbar lordosis 35
Metacarpal cone-shaped epiphyses 3
Micromelia 58
Micronychia (disorder) 24
Narrow thorax 53
Osteochondrodysplasias 72
Ovoid vertebral bodies 17
Pectus excavatum 100
Proportionate shortening of all digits 1
Radial deviation of the 3rd finger 4
Radial deviation of the 4th finger 1
Radial ray hypoplasia 23
Relative macrocephaly 12
Second finger clinodactyly 5
Short distal phalanges 50
Short femoral neck 15
Short hallux 16
Short hands 50
Short limb dwarfism, disproportionate 22
Short metacarpal 43
Short middle phalanges 12
Short proximal phalanges 1
Short proximal phalanges of halluces 1
Short proximal phalanges of thumb 1
Short ribs 30
Short stature 531
Short stature, disproportionate 9
Short stature, severe disproportionate 9
Short tibia 9
Short ulnae 24
Short upper arms 16
Slender metacarpals 2
Spade-like hand 16
Terminal symphalangism of hands 1
Thin proximal phalanges with broad epiphyses 1
Thin proximal phalanges with broad epiphyses of the hand 1
ULNAR HYPOPLASIA 24
Disease Target Count P-value
osteosarcoma 7950 2.8e-07
psoriasis 6694 7.2e-05
active Crohn's disease 922 9.8e-03
active ulcerative colitis 764 4.5e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count
Brachydactyly, Type A1 3

Expression

  Differential Expression (4)

Disease log2 FC p
active Crohn's disease -1.535 9.8e-03
active ulcerative colitis -1.109 4.5e-02
osteosarcoma 2.035 2.8e-07
psoriasis 1.500 7.2e-05

Gene RIF (73)

AA Sequence

MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKTLGASGRYEGK      1 - 70
IARSSERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMNQWPGVKLRVTEGWDEDGHHS     71 - 140
EESLHYEGRAVDITTSDRDRNKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQV    141 - 210
RLESGARVALSAVRPGDRVLAMGEDGSPTFSDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTA    211 - 280
DNHTEPAARFRATFASHVQPGQYVLVAGVPGLQPARVAAVSTHVALGAYAPLTKHGTLVVEDVVASCFAA    281 - 350
VADHHLAQLAFWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLGRLLLEEGSFHPLGMSGAGS             351 - 411
//

Text Mined References (93)

PMID Year Title