Property Summary

NCBI Gene PubMed Count 21
PubMed Score 93.81
PubTator Score 89.08

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
breast carcinoma 1614 1.10486227204781E-35
non-small cell lung cancer 2798 6.59939420018183E-26
lung carcinoma 2844 8.40205028636252E-24
lung adenocarcinoma 2714 9.60531234142802E-14
ovarian cancer 8492 1.29255299063349E-13
Duchenne muscular dystrophy 602 1.65072729845786E-8
juvenile dermatomyositis 1189 3.22889256890753E-8
cystic fibrosis 1670 1.15270926372144E-7
adrenocortical carcinoma 1427 2.23122193895828E-7
pituitary cancer 1972 1.485342108204E-6
lung cancer 4473 4.24490425896699E-6
medulloblastoma, large-cell 6234 2.42690238740477E-5
atypical teratoid / rhabdoid tumor 4369 8.02065786562305E-5
intraductal papillary-mucinous carcinoma (IPMC) 2988 1.00255854805612E-4
ductal carcinoma in situ 1745 1.02298258581499E-4
medulloblastoma 1524 1.33127366911026E-4
Atopic dermatitis 944 1.65683922699466E-4
psoriasis 6685 1.73373658002283E-4
invasive ductal carcinoma 2950 3.98110593213264E-4
colon cancer 1475 9.8632360387292E-4
fibroadenoma 557 0.0010735005853664
limb girdle muscular dystrophy 2A 156 0.00256612730060251
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00269821231854292
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00289230224595744
glioblastoma 5572 0.00324075921655643
Pick disease 1893 0.00726418989027317
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.00995634526126787
dermatomyositis 967 0.0158303781811835
diabetes mellitus 1663 0.0180255082151511
aldosterone-producing adenoma 664 0.0189090670807975
astrocytic glioma 2241 0.02345568915954
Breast cancer 3099 0.028813940271071
osteosarcoma 7933 0.0314058194327473
pancreatic cancer 2300 0.0403963948546904
ependymoma 2514 0.0445194007016354
acute myeloid leukemia 785 0.047268661574794
Disease Target Count Z-score Confidence
Cardiovascular system disease 194 0.0 1.0
Disease Target Count Z-score Confidence
Corneal degeneration 4 4.057 2.0
Scurvy 10 3.179 1.6
Disease Target Count
Megalocornea 1, X-linked 1

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

Synonym

Accession Q9BU40 B1AKD0 B4DMP3 D3DUY6 E9PGS5 Q539E4 Q9Y3H7
Symbols CHL
MGC1
MGCN
VOPT
NRLN1
dA141H5.1

Gene

  Ortholog (11)

 OMIM Term (1)

 GWAS Trait (1)

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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