×
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.310
Biomarker
group
BEFREE
Relevant manuscripts published in English were searched using PubMed. aCML is diagnosed as per WHO 2016 classification in the presence of leukocytosis ≥13 × 109/l with circulating neutrophil precursors ≥10%, monocytes less than 10%, minimal basophils, hypercellular bone marrow with granulocytic proliferation and dysplasia, bone marrow blast less than 20% and absence of BCR/ABL fusion gene.
29226717 2018
×
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.310
Biomarker
group
CTD_human
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
28288113 2017
×
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
0.310
Biomarker
group
CTD_human
Identification of the GATA factor TRPS1 as a repressor of the osteocalcin promoter.
19759027 2009
×
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
0.310
Biomarker
group
BEFREE
These findings directly implicate the GATA type zinc finger of TRPS1 in regulation of bone and hair development and suggest that skeletal abnormalities emphasized in descriptions of TRPS are only the extreme manifestations of a generalized bone dysplasia .
12446778 2002
×
Entrez Id: 54187
Gene Symbol: NANS
NANS
0.300
Biomarker
group
CTD_human
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
27213289 2016
×
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
0.300
Biomarker
group
CTD_human
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
25730767 2015
×
Entrez Id: 407975
Gene Symbol: MIR17HG
MIR17HG
0.300
Biomarker
group
CTD_human
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.
21892160 2011
×
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
0.300
Biomarker
group
CTD_human
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
20018682 2010
×
Entrez Id: 286
Gene Symbol: ANK1
ANK1
0.300
Biomarker
group
CTD_human
Progressive ankylosis gene (ank) regulates osteoblast differentiation.
18728347 2009
×
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
0.300
Biomarker
group
CTD_human
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.
19763162 2009
SH3PXD2B
0.300
Biomarker
group
CTD_human
The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.
19669234 2009
×
Entrez Id: 5125
Gene Symbol: PCSK5
PCSK5
0.300
Biomarker
group
CTD_human
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.
18519639 2008
×
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
0.300
Biomarker
group
CTD_human
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
18925670 2008
×
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
0.300
Biomarker
group
CTD_human
Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette.
17127413 2007
×
Entrez Id: 11127
Gene Symbol: KIF3A
KIF3A
0.300
Biomarker
group
CTD_human
Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms.
17698054 2007
×
Entrez Id: 4880
Gene Symbol: NPPC
NPPC
0.300
Biomarker
group
CTD_human
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.
17676597 2007
×
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
0.300
Biomarker
group
CTD_human
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
17468754 2007
ITGB1BP1
0.300
Biomarker
group
CTD_human
Defective osteoblast function in ICAP-1-deficient mice.
17567669 2007
×
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
0.300
Biomarker
group
CTD_human
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
16826531 2006
×
Entrez Id: 865
Gene Symbol: CBFB
CBFB
0.300
Biomarker
group
CTD_human
Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome.
17022082 2006
×
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
0.300
Biomarker
group
CTD_human
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.
15805157 2005
×
Entrez Id: 1147
Gene Symbol: CHUK
CHUK
0.300
Biomarker
group
CTD_human
IKK1-deficient mice exhibit abnormal development of skin and skeleton.
10346820 1999
×
Entrez Id: 1749
Gene Symbol: DLX5
DLX5
0.300
Biomarker
group
CTD_human
Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5.
10433909 1999
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
0.300
Biomarker
group
CTD_human
Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.
9560283 1998
×
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
0.300
Biomarker
group
CTD_human
Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome.
9349812 1997