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PedAM

Pediatric Disease Annotations & Medicines



   craniosynostosis
  

Disease ID 55
Disease craniosynostosis
Definition
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
Synonym
1 craniosynostoses, type
1 craniosynostosis, type
congenital ossification of cranial sutures
congenital ossification of sutures of skull
cranial suture synostosis
cranial synostosis
craniostenoses
craniostenosis
craniostosis
craniosynostose
craniosynostoses
craniosynostoses [disease/finding]
craniosynostoses, type 1
craniosynostosis (disorder)
craniosynostosis 1
craniosynostosis plagiocephaly
craniosynostosis syndrome
craniosynostosis syndrome (disorder)
craniosynostosis syndromes
craniosynostosis, type 1
craniosyostosis
crs
crs1
cso - craniosynostosis
early closure of the cranial sutures
early fusion of cranial sutures
plagiocephaly, craniosynostosis
plagiocephaly, synostotic
premature closure of cranial sutures
premature closure of the cranial sutures
premature cranial suture closure
premature fontanel closure
synostosis (cranial)
synostotic plagiocephaly
type 1 craniosynostoses
type 1 craniosynostosis
Orphanet
OMIM
DOID
ICD10
UMLS
C0010278
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:27)
C0020255  |  hydrocephalus  |  3
C0030353  |  papilledema  |  3
C0151740  |  intracranial hypertension  |  2
C0520679  |  obstructive sleep apnea  |  2
C0151740  |  increased intracranial pressure  |  2
C0037315  |  sleep apnea  |  2
C0010273  |  crouzon syndrome  |  2
C0038379  |  strabismus  |  1
C0008029  |  cherubism  |  1
C0442874  |  neuropathy  |  1
C0020725  |  i-cell disease  |  1
C0037315  |  sleep apnoea  |  1
C0015300  |  proptosis  |  1
C0020550  |  hyperthyroidism  |  1
C0040128  |  thyroid disease  |  1
C0037315  |  sleep apnea syndrome  |  1
C0029132  |  optic neuropathy  |  1
C0028326  |  noonan syndrome  |  1
C0410528  |  skeletal dysplasia  |  1
C0456909  |  blindness  |  1
C0796004  |  kabuki syndrome  |  1
C0020538  |  hypertension  |  1
C0001080  |  achondroplasia  |  1
C0520679  |  obstructive sleep apnea syndrome  |  1
C0175699  |  saethre-chotzen syndrome  |  1
C0238402  |  pycnodysostosis  |  1
C0265308  |  baller-gerold syndrome  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:28)
IFT122  |  55764  |  CTD_human
SKI  |  6497  |  UniProtKB-KW
EFNB1  |  1947  |  CTD_human;UniProtKB-KW
FGFR1  |  2260  |  UniProtKB-KW
EZH2  |  2146  |  CTD_human
FGFR2  |  2263  |  CTD_human;UniProtKB-KW;GHR
SMAD6  |  4091  |  UniProtKB-KW
IL11RA  |  3590  |  UniProtKB-KW
ZIC1  |  7545  |  UniProtKB-KW
BBS9  |  27241  |  CTD_human
ERF  |  2077  |  CTD_human;UniProtKB-KW
MSX2  |  4488  |  UniProtKB-KW
CYP26B1  |  56603  |  UniProtKB-KW
ALX4  |  60529  |  UniProtKB-KW
P4HB  |  5034  |  UniProtKB-KW
POR  |  5447  |  UniProtKB-KW
FGFR3  |  2261  |  UniProtKB-KW
WDR35  |  57539  |  CTD_human
MEGF8  |  1954  |  UniProtKB-KW
TGFBR1  |  7046  |  UniProtKB-KW
BMP2  |  650  |  CTD_human
FREM1  |  158326  |  UniProtKB-KW
TWIST1  |  7291  |  CTD_human;UniProtKB-KW;UNIPROT
CD96  |  10225  |  UniProtKB-KW
NELL1  |  4745  |  CTD_human
ASXL1  |  171023  |  UniProtKB-KW
RAB23  |  51715  |  UniProtKB-KW
TCF12  |  6938  |  CTD_human;UniProtKB-KW
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:4)
2260  |  FGFR1  |  infer
2263  |  FGFR2  |  infer
2261  |  FGFR3  |  infer
7291  |  TWIST1  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:226)
56603  |  CYP26B1  |  DISEASES
3207  |  HOXA11  |  DISEASES
1634  |  DCN  |  DISEASES
2767  |  GNA11  |  DISEASES
2249  |  FGF4  |  DISEASES
27248  |  ERLEC1  |  DISEASES
53405  |  CLIC5  |  DISEASES
1947  |  EFNB1  |  DISEASES
7049  |  TGFBR3  |  DISEASES
1943  |  EFNA2  |  DISEASES
4174  |  MCM5  |  DISEASES
54  |  ACP5  |  DISEASES
23594  |  ORC6  |  DISEASES
79650  |  USB1  |  DISEASES
7040  |  TGFB1  |  DISEASES
2077  |  ERF  |  DISEASES
1749  |  DLX5  |  DISEASES
3199  |  HOXA2  |  DISEASES
3955  |  LFNG  |  DISEASES
3209  |  HOXA13  |  DISEASES
1592  |  CYP26A1  |  DISEASES
657  |  BMPR1A  |  DISEASES
3381  |  IBSP  |  DISEASES
2251  |  FGF6  |  DISEASES
6678  |  SPARC  |  DISEASES
1746  |  DLX2  |  DISEASES
5918  |  RARRES1  |  DISEASES
112752  |  IFT43  |  DISEASES
7043  |  TGFB3  |  DISEASES
4488  |  MSX2  |  DISEASES
5396  |  PRRX1  |  DISEASES
1748  |  DLX4  |  DISEASES
27241  |  BBS9  |  DISEASES
7291  |  TWIST1  |  DISEASES
84292  |  WDR83  |  DISEASES
79809  |  TTC21B  |  DISEASES
652  |  BMP4  |  DISEASES
6662  |  SOX9  |  DISEASES
64428  |  NARFL  |  DISEASES
51132  |  RLIM  |  DISEASES
182  |  JAG1  |  DISEASES
10993  |  SDS  |  DISEASES
55501  |  CHST12  |  DISEASES
80727  |  TTYH3  |  DISEASES
2295  |  FOXF2  |  DISEASES
1588  |  CYP19A1  |  DISEASES
23314  |  SATB2  |  DISEASES
10060  |  ABCC9  |  DISEASES
284058  |  KANSL1  |  DISEASES
25939  |  SAMHD1  |  DISEASES
2769  |  GNA15  |  DISEASES
10133  |  OPTN  |  DISEASES
50937  |  CDON  |  DISEASES
90  |  ACVR1  |  DISEASES
2817  |  GPC1  |  DISEASES
5000  |  ORC4  |  DISEASES
2247  |  FGF2  |  DISEASES
658  |  BMPR1B  |  DISEASES
2255  |  FGF10  |  DISEASES
8626  |  TP63  |  DISEASES
53834  |  FGFRL1  |  DISEASES
2252  |  FGF7  |  DISEASES
3480  |  IGF1R  |  DISEASES
80816  |  ASXL3  |  DISEASES
64129  |  TINAGL1  |  DISEASES
54507  |  ADAMTSL4  |  DISEASES
1513  |  CTSK  |  DISEASES
151449  |  GDF7  |  DISEASES
5746  |  PTH2R  |  DISEASES
8817  |  FGF18  |  DISEASES
2768  |  GNA12  |  DISEASES
2041  |  EPHA1  |  DISEASES
58499  |  ZNF462  |  DISEASES
1793  |  DOCK1  |  DISEASES
5800  |  PTPRO  |  DISEASES
8538  |  BARX2  |  DISEASES
23389  |  MED13L  |  DISEASES
651  |  BMP3  |  DISEASES
7545  |  ZIC1  |  DISEASES
10225  |  CD96  |  DISEASES
56172  |  ANKH  |  DISEASES
11197  |  WIF1  |  DISEASES
392255  |  GDF6  |  DISEASES
4838  |  NODAL  |  DISEASES
57822  |  GRHL3  |  DISEASES
54102  |  CLIC6  |  DISEASES
197131  |  UBR1  |  DISEASES
2264  |  FGFR4  |  DISEASES
3549  |  IHH  |  DISEASES
5500  |  PPP1CB  |  DISEASES
55764  |  IFT122  |  DISEASES
94234  |  FOXQ1  |  DISEASES
6469  |  SHH  |  DISEASES
7253  |  TSHR  |  DISEASES
9317  |  PTER  |  DISEASES
10818  |  FRS2  |  DISEASES
79158  |  GNPTAB  |  DISEASES
81620  |  CDT1  |  DISEASES
84168  |  ANTXR1  |  DISEASES
8313  |  AXIN2  |  DISEASES
121340  |  SP7  |  DISEASES
7543  |  ZFX  |  DISEASES
11141  |  IL1RAPL1  |  DISEASES
11162  |  NUDT6  |  DISEASES
155185  |  AMZ1  |  DISEASES
6199  |  RPS6KB2  |  DISEASES
285590  |  SH3PXD2B  |  DISEASES
3265  |  HRAS  |  DISEASES
51773  |  RSF1  |  DISEASES
80199  |  FUZ  |  DISEASES
54862  |  CC2D1A  |  DISEASES
258  |  AMBN  |  DISEASES
57539  |  WDR35  |  DISEASES
8092  |  ALX1  |  DISEASES
9495  |  AKAP5  |  DISEASES
51715  |  RAB23  |  DISEASES
2253  |  FGF8  |  DISEASES
8100  |  IFT88  |  DISEASES
10491  |  CRTAP  |  DISEASES
55553  |  SOX6  |  DISEASES
2200  |  FBN1  |  DISEASES
23384  |  SPECC1L  |  DISEASES
26999  |  CYFIP2  |  DISEASES
3590  |  IL11RA  |  DISEASES
633  |  BGN  |  DISEASES
1482  |  NKX2-5  |  DISEASES
9241  |  NOG  |  DISEASES
1668  |  DEFA3  |  DISEASES
6938  |  TCF12  |  DISEASES
5727  |  PTCH1  |  DISEASES
60529  |  ALX4  |  DISEASES
2248  |  FGF3  |  DISEASES
2306  |  FOXD2  |  DISEASES
219541  |  MED19  |  DISEASES
64778  |  FNDC3B  |  DISEASES
2246  |  FGF1  |  DISEASES
2885  |  GRB2  |  DISEASES
78989  |  COLEC11  |  DISEASES
1687  |  DFNA5  |  DISEASES
221927  |  BRAT1  |  DISEASES
2261  |  FGFR3  |  DISEASES
6932  |  TCF7  |  DISEASES
3167  |  HMX2  |  DISEASES
79648  |  MCPH1  |  DISEASES
10252  |  SPRY1  |  DISEASES
8481  |  OFD1  |  DISEASES
1499  |  CTNNB1  |  DISEASES
57492  |  ARID1B  |  DISEASES
5358  |  PLS3  |  DISEASES
8510  |  MMP23B  |  DISEASES
4745  |  NELL1  |  DISEASES
64919  |  BCL11B  |  DISEASES
7048  |  TGFBR2  |  DISEASES
7456  |  WIPF1  |  DISEASES
64219  |  PJA1  |  DISEASES
5083  |  PAX9  |  DISEASES
7042  |  TGFB2  |  DISEASES
3664  |  IRF6  |  DISEASES
56995  |  TULP4  |  DISEASES
114836  |  SLAMF6  |  DISEASES
6708  |  SPTA1  |  DISEASES
632  |  BGLAP  |  DISEASES
90780  |  PYGO2  |  DISEASES
8036  |  SHOC2  |  DISEASES
257  |  ALX3  |  DISEASES
1586  |  CYP17A1  |  DISEASES
2258  |  FGF13  |  DISEASES
2778  |  GNAS  |  DISEASES
4774  |  NFIA  |  DISEASES
860  |  RUNX2  |  DISEASES
8464  |  SUPT3H  |  DISEASES
51098  |  IFT52  |  DISEASES
9754  |  STARD8  |  DISEASES
249  |  ALPL  |  DISEASES
7046  |  TGFBR1  |  DISEASES
2259  |  FGF14  |  DISEASES
10082  |  GPC6  |  DISEASES
11127  |  KIF3A  |  DISEASES
650  |  BMP2  |  DISEASES
9468  |  PCYT1B  |  DISEASES
5251  |  PHEX  |  DISEASES
10631  |  POSTN  |  DISEASES
1280  |  COL2A1  |  DISEASES
158326  |  FREM1  |  DISEASES
9350  |  CER1  |  DISEASES
169792  |  GLIS3  |  DISEASES
114899  |  C1QTNF3  |  DISEASES
2254  |  FGF9  |  DISEASES
1667  |  DEFA1  |  DISEASES
728358  |  DEFA1B  |  DISEASES
4487  |  MSX1  |  DISEASES
80309  |  SPHKAP  |  DISEASES
2869  |  GRK5  |  DISEASES
2719  |  GPC3  |  DISEASES
374654  |  KIF7  |  DISEASES
6696  |  SPP1  |  DISEASES
51343  |  FZR1  |  DISEASES
655  |  BMP7  |  DISEASES
2737  |  GLI3  |  DISEASES
5137  |  PDE1C  |  DISEASES
152330  |  CNTN4  |  DISEASES
57728  |  WDR19  |  DISEASES
7441  |  VPREB1  |  DISEASES
5165  |  PDK3  |  DISEASES
1747  |  DLX3  |  DISEASES
9842  |  PLEKHM1  |  DISEASES
2260  |  FGFR1  |  DISEASES
64324  |  NSD1  |  DISEASES
6635  |  SNRPE  |  DISEASES
161497  |  STRC  |  DISEASES
117581  |  TWIST2  |  DISEASES
8318  |  CDC45  |  DISEASES
54845  |  ESRP1  |  DISEASES
54900  |  LAX1  |  DISEASES
5578  |  PRKCA  |  DISEASES
1589  |  CYP21A2  |  DISEASES
2263  |  FGFR2  |  DISEASES
1945  |  EFNA4  |  DISEASES
64856  |  VWA1  |  DISEASES
84107  |  ZIC4  |  DISEASES
2972  |  BRF1  |  DISEASES
84525  |  HOPX  |  DISEASES
64220  |  STRA6  |  DISEASES
2297  |  FOXD1  |  DISEASES
25859  |  PART1  |  DISEASES
100038246  |  TLX1NB  |  DISEASES
Locus(Waiting for update.)
Disease ID 55
Disease craniosynostosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:50)
HP:0000243  |  Triangular cranium shape  |  4
HP:0002516  |  Intracranial pressure elevation  |  4
HP:0002104  |  Absence of spontaneous respiration  |  4
HP:0000238  |  Nonsyndromal hydrocephalus  |  3
HP:0010535  |  Sleep apnea  |  3
HP:0007099  |  Arnold Chiari type I malformation  |  3
HP:0001085  |  Papilledema  |  3
HP:0011800  |  Midface, flat  |  2
HP:0004439  |  Crouzon syndrome  |  2
HP:0100543  |  Cognitive deficits  |  2
HP:0002870  |  Obstructive sleep apnea  |  2
HP:0010442  |  Polydactyly  |  2
HP:0000274  |  Hypoplasia of face  |  2
HP:0001263  |  Developmental retardation  |  2
HP:0011297  |  Abnormality of digit  |  1
HP:0006487  |  Camptomelia  |  1
HP:0012245  |  Sex reversal  |  1
HP:0002656  |  Epiphyseal dysplasia  |  1
HP:0011326  |  Deformational frontal plagiocephaly  |  1
HP:0002652  |  Skeletal dysplasia  |  1
HP:0002084  |  Bifid skull  |  1
HP:0002308  |  Chiari malformation  |  1
HP:0030799  |  Scaphocephaly  |  1
HP:0001680  |  Coarctation of aorta  |  1
HP:0000822  |  Hypertension  |  1
HP:0010055  |  Abnormally broad great toes  |  1
HP:0001250  |  Seizures  |  1
HP:0045005  |  Neural tube defect  |  1
HP:0000078  |  Genital abnormalities  |  1
HP:0000668  |  Failure of development of between one and six teeth  |  1
HP:0000486  |  Squint eyes  |  1
HP:0002678  |  Asymmetry of skull  |  1
HP:0000618  |  Blindness  |  1
HP:0001083  |  Dislocated lenses  |  1
HP:0001138  |  Damaged optic nerve  |  1
HP:0011318  |  Bilateral coronal suture craniosynostosis  |  1
HP:0000316  |  Increased distance between eye sockets  |  1
HP:0002825  |  Coccygeal tail  |  1
HP:0001159  |  Webbed fingers or toes  |  1
HP:0000248  |  Brachycephaly  |  1
HP:0000767  |  Funnel chest  |  1
HP:0000836  |  Overactive thyroid  |  1
HP:0001357  |  Flattening of cranial vault  |  1
HP:0002902  |  Hyponatremia  |  1
HP:0000520  |  Anterior bulging of the globe of eye  |  1
HP:0001510  |  Growth deficiency  |  1
HP:0000327  |  Maxillary micrognathia  |  1
HP:0007330  |  Frontal encephalocele  |  1
HP:0000098  |  Increased body height  |  1
HP:0000820  |  Thyroid abnormality  |  1
Disease ID 55
Disease craniosynostosis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:19)
C2632116  |  stenosis
C2020541  |  strabismus
C1963137  |  hydrocephalus
C1839611  |  n syndrome
C1704212  |  embolism
C1532707  |  v pattern strabismus
C0796110  |  w syndrome
C0345617  |  middle ear tumor
C0266463  |  lissencephaly
C0231243  |  early complication
C0151740  |  raised intracranial pressure
C0151740  |  intracranial hypertension
C0040188  |  tic disorders
C0038015  |  spondyloepiphyseal dysplasia
C0025362  |  mental retardation
C0024141  |  le syndrome
C0015300  |  proptosis
C0010278  |  premature cranial suture closure
C0009951  |  convulsions
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:7)
C1839611  |  n syndrome  |  7
C0020255  |  hydrocephalus  |  3
C0151740  |  intracranial hypertension  |  2
C0024141  |  le syndrome  |  1
C0038379  |  strabismus  |  1
C0015300  |  proptosis  |  1
C0796110  |  w syndrome  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:55)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs10246939244156415726TAS2R38umls:C0010278BeFreeThis study replicates previous work which showed that the coding SNP rs10246939 in the TAS2R38 gene is associated with CRS.0.0008143262013TAS2R38;OR9A47141972804TC
rs121908671159403804041LRP5umls:C0010278BeFreeA missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed.0.0002714422005LRP51168357801GA
rs121909627112770762261FGFR3umls:C0010278BeFreePro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.0.0301275052001FGFR1838424690GC
rs121909627112770762263FGFR2umls:C0010278BeFreePro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.0.1600711652001FGFR1838424690GC
rs121909627112770762260FGFR1umls:C0010278BeFreePro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.0.0141685162001FGFR1838424690GC
rs121909627233482742260FGFR1umls:C0010278BeFreeIn addition, the p.P252R mutation in FGFR1 was detected in 1 PS patient with unilateral coronal craniosynostosis expanding the phenotypic spectrum of PS with this particular mutation.0.0141685162014FGFR1838424690GC
rs121909627109424292260FGFR1umls:C0010278BeFreePfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1).0.0141685162000FGFR1838424690GC
rs121913478225855742263FGFR2umls:C0010278BeFreeFgfr2+/Y394C mice exhibited epidermal hyperplasia and premature closure of cranial sutures (craniosynostosis) due to abnormal cell proliferation and differentiation.0.1600711652012FGFR210121515280TC
rs121918499240367902263FGFR2umls:C0010278BeFreeFGFR2 sequencing revealed a c.870G>T transversion in exon 8, which is predicted to encode a Trp290Cys substitution.The clinical features of severe exophthalmos and other features typical of PS without craniosynostosis were most consistent with a diagnosis of PS type III.0.1600711652014FGFR210121520048CG,A
rs121918501228722662263FGFR2umls:C0010278BeFreeSeveral of the defects observed in the Fgfr2 (W290R) homozygous mouse mutant are attributable to a loss-of-function mechanism in contrast to the frequently reported gain-of-function receptor function associated with mutated FGF receptors in craniosynostosis.0.1600711652012FGFR210121520050AG,C
rs121918502120728072263FGFR2umls:C0010278BeFreeWe report a baby with craniosynostosis and a sacral appendage who has been found to have a Ser351Cys mutation in the fibroblast growth factor receptor 2 gene (FGFR2).0.1600711652002FGFR210121517351GC
rs121918504109515182263FGFR2umls:C0010278BeFreeA novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?0.1600711652000FGFR210121517460CT,A
rs121918504152822082263FGFR2umls:C0010278BeFreeIn addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis.0.1600711652004FGFR210121517460CT,A
rs121918504123574702263FGFR2umls:C0010278BeFreeA further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations.0.1600711652002FGFR210121517460CT,A
rs16944201570683553IL1Bumls:C0010278BeFreeTo replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.0.0005428842010IL1B2112837290AG
rs16944201570687124TNFumls:C0010278BeFreeTo replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.0.0008143262010IL1B2112837290AG
rs17561201570683553IL1Bumls:C0010278BeFreeTo replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.0.0005428842010IL1A2112779646CA
rs17561201570687124TNFumls:C0010278BeFreeTo replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.0.0008143262010IL1A2112779646CA
rs1800629201570687124TNFumls:C0010278BeFreeTo replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.0.0008143262010TNF631575254GA
rs1800629201570683553IL1Bumls:C0010278BeFreeTo replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.0.0005428842010TNF631575254GA
rs29174542459521056479KCNQ5umls:C0010278BeFreeIn addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS.0.0002714422014KCNMA11077132657TC
rs2917454245952103778KCNMA1umls:C0010278BeFreeIn addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS.0.0002714422014KCNMA11077132657TC
rs361525201570687124TNFumls:C0010278BeFreeTo replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.0.0008143262010TNF631575324GA
rs361525201570683553IL1Bumls:C0010278BeFreeTo replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.0.0005428842010TNF631575324GA
rs373496046220387572261FGFR3umls:C0010278BeFreeMild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.0.0301275052011FGFR341803761GA
rs386543959201570687124TNFumls:C0010278BeFreeTo replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.0.0008143262010NANANANANA
rs386543959201570683553IL1Bumls:C0010278BeFreeTo replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.0.0005428842010NANANANANA
rs4647924159150952261FGFR3umls:C0010278BeFreeFGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.0.0301275052005FGFR341801844CG
rs464792491072442261FGFR3umls:C0010278BeFreePrevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.0.0301275051997FGFR341801844CG
rs4647924171034492261FGFR3umls:C0010278BeFreeP250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.0.0301275052006FGFR341801844CG
rs4647924188181932261FGFR3umls:C0010278BeFreeThe heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome.0.0301275052009FGFR341801844CG
rs4647924228722652261FGFR3umls:C0010278BeFreeThe Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation.0.0301275052012FGFR341801844CG
rs46479241591509557492ARID1Bumls:C0010278BeFreeFGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.0.0010857672005FGFR341801844CG
rs464792496007442261FGFR3umls:C0010278BeFreeWe compare the clinical characteristics of previously reported cases of this unique Pro250Arg mutation with those of two additional families and suggest that this syndrome with a unique mutational basis be designated coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene, to emphasize the distinctive findings which may be present even in the absence of coronal craniosynostosis.0.0301275051998FGFR341801844CG
rs4647924214035572261FGFR3umls:C0010278BeFreeThe Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in craniosynostosis syndromes.0.0301275052011FGFR341801844CG
rs4647924927976457492ARID1Bumls:C0010278BeFreePhenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.0.0010857671997FGFR341801844CG
rs464792499503592261FGFR3umls:C0010278BeFreeA recurrent point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that converts proline 250 into arginine is commonly associated with coronal craniosynostosis and has allowed definition of a new syndrome on a molecular basis.0.0301275051999FGFR341801844CG
rs4647924207076992261FGFR3umls:C0010278BeFreeWe report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in addition to craniosynostosis, had a laterality disorder and hepatoblastoma, following a pregnancy complicated by maternal insulin-dependent diabetes.0.0301275052010FGFR341801844CG
rs464792492797642261FGFR3umls:C0010278BeFreePhenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.0.0301275051997FGFR341801844CG
rs46479241710344957492ARID1Bumls:C0010278BeFreeP250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.0.0010857672006FGFR341801844CG
rs4647924114674902261FGFR3umls:C0010278BeFreeNew Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.0.0301275052001FGFR341801844CG
rs4647924107616522261FGFR3umls:C0010278BeFreeA recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis.0.0301275052000FGFR341801844CG
rs464792492797532261FGFR3umls:C0010278BeFreeCraniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.0.0301275051997FGFR341801844CG
rs6907229245952103778KCNMA1umls:C0010278BeFreeIn addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS.0.0002714422014KCNQ5673174426CT
rs69072292459521056479KCNQ5umls:C0010278BeFreeIn addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS.0.0002714422014KCNQ5673174426CT
rs77543610153107572263FGFR2umls:C0010278BeFreeApert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation.0.1600711652004FGFR210121520160GC
rs77543610112770762260FGFR1umls:C0010278BeFreePro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.0.0141685162001FGFR210121520160GC
rs77543610112770762263FGFR2umls:C0010278BeFreePro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.0.1600711652001FGFR210121520160GC
rs77543610112770762261FGFR3umls:C0010278BeFreePro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.0.0301275052001FGFR210121520160GC
rs77543610182421592263FGFR2umls:C0010278BeFreeApert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2).0.1600711652008FGFR210121520160GC
rs77543610245808052263FGFR2umls:C0010278BeFreeHere we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-function mutations in FGFR2 on neighboring amino acids (S252W and P253R) that in humans cause Apert syndrome, one of the most severe FGFR-related craniosynostosis syndromes.0.1600711652014FGFR210121520160GC
rs79184941113413282263FGFR2umls:C0010278BeFreeRole of N-cadherin and protein kinase C in osteoblast gene activation induced by the S252W fibroblast growth factor receptor 2 mutation in Apert craniosynostosis.0.1600711652001FGFR210121520163GC,A
rs79184941153107572263FGFR2umls:C0010278BeFreeApert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation.0.1600711652004FGFR210121520163GC,A
rs79184941182421592263FGFR2umls:C0010278BeFreeApert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2).0.1600711652008FGFR210121520163GC,A
rs79184941245808052263FGFR2umls:C0010278BeFreeHere we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-function mutations in FGFR2 on neighboring amino acids (S252W and P253R) that in humans cause Apert syndrome, one of the most severe FGFR-related craniosynostosis syndromes.0.1600711652014FGFR210121520163GC,A
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:2)
CHR POS SNPID REF ALT ORI_SNPID PMID P_VALUE P_VALUE_TEXT OR/BETA CI95_TEXT GWAS_INITIAL_SAMPLE_SIZE SUB_POPULATION SUPER_POPULATION GWAS_TRAIT HPO_ID HPO_TERM DO_ID DO_TERM MESH_ID MESH_TERM EFO_ID EFO_TERM DOLITE_TERM RISK_ALLELE PUBLICATION_TYPE AA GENE_SYMBOL TYPE REFGENE
733256039rs10262453ACrs10262453231600996.00E-20NA4.17[3.13-5.88]130 European ancestry triosEuropean(130)ALL(130)EUR(130)ALL(130)Sagittal craniosynostosisHPOID:0005461Craniofacial disproportionDOID:2340craniosynostosisD003398Craniosynostosesisolated scaphocephalyCraniosynostosisrs10262453-AResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
207106289rs1884302TCrs1884302231600991.00E-39NA4.38[3.51-5.45]130 European ancestry triosEuropean(130)ALL(130)EUR(130)ALL(130)Sagittal craniosynostosisHPOID:0005461Craniofacial disproportionDOID:2340craniosynostosisD003398Craniosynostosesisolated scaphocephalyCraniosynostosisrs1884302-CResearch Support, N.I.H., ExtramuralResearch Support, U.S. Gov't, P.H.S.Research Support, Non-U.S. Gov'tResearch Support, N.I.H., Intramural
Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:3)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0010278cyclophosphamideD00352050-18-0craniosynostosesMESH:D003398marker/mechanism10482872
C0010278phenytoinD01067257-41-0craniosynostosesMESH:D003398marker/mechanism7946029
C0010278valproic acidD01463599-66-1craniosynostosesMESH:D003398marker/mechanism15123016
FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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