Property Summary

NCBI Gene PubMed Count 21
Grant Count 7
R01 Count 4
Funding $383,980.83
PubMed Score 93.81
PubTator Score 89.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (36)

Disease log2 FC p
astrocytic glioma -1.600 0.023
ependymoma -1.800 0.045
psoriasis -1.700 0.000
glioblastoma -1.900 0.003
osteosarcoma -3.056 0.031
medulloblastoma -3.000 0.000
cystic fibrosis 3.379 0.000
atypical teratoid / rhabdoid tumor -2.400 0.000
medulloblastoma, large-cell -3.200 0.000
Duchenne muscular dystrophy 1.989 0.000
autosomal dominant Emery-Dreifuss muscul... 1.605 0.010
juvenile dermatomyositis 1.246 0.000
limb girdle muscular dystrophy 2A 1.109 0.003
Atopic dermatitis -2.800 0.000
adrenocortical carcinoma -1.498 0.000
non-small cell lung cancer -3.990 0.000
intraductal papillary-mucinous adenoma (... -3.400 0.003
intraductal papillary-mucinous carcinoma... -4.900 0.000
intraductal papillary-mucinous neoplasm ... -4.600 0.003
lung cancer -6.200 0.000
colon cancer -3.600 0.001
pancreatic cancer -1.100 0.040
breast carcinoma -3.000 0.000
fibroadenoma -2.900 0.001
diabetes mellitus -1.100 0.018
Breast cancer -4.000 0.029
lung adenocarcinoma -3.600 0.000
aldosterone-producing adenoma -1.192 0.019
acute myeloid leukemia -2.400 0.047
invasive ductal carcinoma -4.900 0.000
lung carcinoma -3.600 0.000
Pick disease -1.200 0.007
ductal carcinoma in situ -2.800 0.000
ovarian cancer -5.700 0.000
pituitary cancer -2.300 0.000
dermatomyositis 1.200 0.016

Gene RIF (8)

PMID Text
26020825 The detection of mutations in the CHRDL1 gene is useful for differential diagnosis with different forms of megalocornea.
25712132 CHRDL1 plays a key role in cornea homeostasis as evidenced by disease causing mutations in X-linked megalocornea.
25093588 Novel CHRDL1 mutations in ten families with X-linked megalocornea, are reported.
24073597 We provide the initial confirmation that X-linked megalocornea is associated with mutations in the CHRDL1 gene.
22284829 CHRDL1 is expressed in the developing human cornea and anterior segment in addition to the retina.
18587495 Hypoxia-induced upregulation of CHL-1 alters the homeostatic balance between BMP-4 and VEGF to synergize with VEGF in driving retinal angiogenesis.
16385451 Observational study of gene-disease association. (HuGE Navigator)
11441185 reports the cloning of chick ventroptin and its importance in topographic retinotectal projection

AA Sequence

MGGMKYIFSLLFFLLLEGGKTEQVKHSETYCMFQDKKYRVGERWHPYLEPYGLVYCVNCICSENGNVLCS      1 - 70
RVRCPNVHCLSPVHIPHLCCPRCPDSLPPVNNKVTSKSCEYNGTTYQHGELFVAEGLFQNRQPNQCTQCS     71 - 140
CSEGNVYCGLKTCPKLTCAFPVSVPDSCCRVCRGDGELSWEHSDGDIFRQPANREARHSYHRSHYDPPPS    141 - 210
RQAGGLSRFPGARSHRGALMDSQQASGTIVQIVINNKHKHGQVCVSNGKTYSHGESWHPNLRAFGIVECV    211 - 280
LCTCNVTKQECKKIHCPNRYPCKYPQKIDGKCCKVCPGKKAKELPGQSFDNKGYFCGEETMPVYESVFME    281 - 350
DGETTRKIALETERPPQVEVHVWTIRKGILQHFHIEKISKRMFEELPHFKLVTRTTLSQWKIFTEGEAQI    351 - 420
SQMCSSRVCRTELEDLVKVLYLERSEKGHC                                            421 - 450
//

Text Mined References (21)

PMID Year Title
26020825 2015 Novel Mutation in the CHRDL1 Gene Detected in Patients With Megalocornea.
25712132 2015 Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
25093588 2014 Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
24073597 2015 X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8).
22284829 2012 X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
21378988 2011 A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
20130390 2010 Effect of chordin-like 1 on MC3T3-E1 and human mesenchymal stem cells.
19357253 2009 Chordin-like 1 and twisted gastrulation 1 regulate BMP signaling following kidney injury.
18587495 2008 Chordin-like 1, a bone morphogenetic protein-4 antagonist, is upregulated by hypoxia in human retinal pericytes and plays a role in regulating angiogenesis.
17881565 2007 Gene expression patterns of human colon tops and basal crypts and BMP antagonists as intestinal stem cell niche factors.
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