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	craniosynostosis

Disease ID	174
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	ORPHANET:35098 ORPHANET:1531
OMIM	OMIM:123100
DOID	DOID:2340
ICD10	ICD10CM:Q75.0
UMLS	C0010278
MeSH	D003398
SNOMED-CT	SNOMEDCT_US_2016_09_01:57219006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:27) C0010273 \| crouzon syndrome \| 2 C0037315 \| sleep apnea \| 2 C0151740 \| intracranial hypertension \| 2 C0520679 \| obstructive sleep apnea \| 2 C0030353 \| papilledema \| 2 C0151740 \| increased intracranial pressure \| 2 C0238402 \| pycnodysostosis \| 1 C0010278 \| craniosynostosis \| 1 C0027051 \| myocardial infarct \| 1 C0001080 \| achondroplasia \| 1 C0020725 \| i-cell disease \| 1 C0038379 \| strabismus \| 1 C0265308 \| baller-gerold syndrome \| 1 C0037315 \| sleep apnea syndrome \| 1 C0028326 \| noonan syndrome \| 1 C0520679 \| obstructive sleep apnea syndrome \| 1 C0027051 \| myocardial infarction \| 1 C0025958 \| microcephaly \| 1 C0040128 \| thyroid disease \| 1 C0796004 \| kabuki syndrome \| 1 C0020630 \| hypophosphatasia \| 1 C0020538 \| hypertension \| 1 C0410528 \| skeletal dysplasia \| 1 C0037315 \| sleep apnoea \| 1 C0008029 \| cherubism \| 1 C0020255 \| hydrocephalus \| 1 C0015300 \| proptosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:28) 55764 \| IFT122 \| CTD_human 2260 \| FGFR1 \| UniProtKB-KW 2261 \| FGFR3 \| UniProtKB-KW 5034 \| P4HB \| UniProtKB-KW 7545 \| ZIC1 \| UniProtKB-KW 27241 \| BBS9 \| CTD_human 10225 \| CD96 \| UniProtKB-KW 7291 \| TWIST1 \| CTD_human;UniProtKB-KW;UNIPROT 57539 \| WDR35 \| CTD_human 5447 \| POR \| UniProtKB-KW 4091 \| SMAD6 \| UniProtKB-KW 171023 \| ASXL1 \| UniProtKB-KW 1954 \| MEGF8 \| UniProtKB-KW 1947 \| EFNB1 \| CTD_human;UniProtKB-KW 2263 \| FGFR2 \| CTD_human;UniProtKB-KW;GHR 7046 \| TGFBR1 \| UniProtKB-KW 6497 \| SKI \| UniProtKB-KW 158326 \| FREM1 \| UniProtKB-KW 56603 \| CYP26B1 \| UniProtKB-KW 4488 \| MSX2 \| UniProtKB-KW;UNIPROT 6938 \| TCF12 \| CTD_human;UniProtKB-KW 2077 \| ERF \| CTD_human;UniProtKB-KW 2146 \| EZH2 \| CTD_human 60529 \| ALX4 \| UniProtKB-KW 650 \| BMP2 \| CTD_human 3590 \| IL11RA \| UniProtKB-KW 51715 \| RAB23 \| UniProtKB-KW 4745 \| NELL1 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 2260 \| FGFR1 \| CIPHER 2263 \| FGFR2 \| CIPHER;CTD_human 2261 \| FGFR3 \| CIPHER 7291 \| TWIST1 \| CIPHER;CTD_human 2077 \| ERF \| CTD_human 6938 \| TCF12 \| CTD_human 2146 \| EZH2 \| CTD_human 27241 \| BBS9 \| CTD_human 650 \| BMP2 \| CTD_human 4745 \| NELL1 \| CTD_human 55764 \| IFT122 \| CTD_human 1947 \| EFNB1 \| CTD_human 57539 \| WDR35 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:111) 249 \| ALPL \| 3.773 \| DISEASES 257 \| ALX3 \| 5.268 \| DISEASES 60529 \| ALX4 \| 4.135 \| DISEASES 57492 \| ARID1B \| 5.074 \| DISEASES 64919 \| BCL11B \| 1.844 \| DISEASES 632 \| BGLAP \| 3.254 \| DISEASES 633 \| BGN \| 1.672 \| DISEASES 650 \| BMP2 \| 3.747 \| DISEASES 655 \| BMP7 \| 1.833 \| DISEASES 221927 \| BRAT1 \| 1.818 \| DISEASES 2972 \| BRF1 \| 1.526 \| DISEASES 114899 \| C1QTNF3 \| 1.658 \| DISEASES 8318 \| CDC45 \| 1.53 \| DISEASES 9350 \| CER1 \| 1.139 \| DISEASES 152330 \| CNTN4 \| 1.282 \| DISEASES 1280 \| COL2A1 \| 2.593 \| DISEASES 78989 \| COLEC11 \| 3.045 \| DISEASES 10491 \| CRTAP \| 1.206 \| DISEASES 1499 \| CTNNB1 \| 1.143 \| DISEASES 26999 \| CYFIP2 \| 1.372 \| DISEASES 1586 \| CYP17A1 \| 2.156 \| DISEASES 1589 \| CYP21A2 \| 2.083 \| DISEASES 1667 \| DEFA1 \| 1.407 \| DISEASES 728358 \| DEFA1B \| 1.407 \| DISEASES 1668 \| DEFA3 \| 1.181 \| DISEASES 1687 \| DFNA5 \| 1.461 \| DISEASES 1747 \| DLX3 \| 1.31 \| DISEASES 1945 \| EFNA4 \| 3.336 \| DISEASES 54845 \| ESRP1 \| 1.345 \| DISEASES 2200 \| FBN1 \| 4.13 \| DISEASES 2246 \| FGF1 \| 2.325 \| DISEASES 2258 \| FGF13 \| 4.923 \| DISEASES 2259 \| FGF14 \| 1.621 \| DISEASES 2248 \| FGF3 \| 2.522 \| DISEASES 2253 \| FGF8 \| 3.035 \| DISEASES 2254 \| FGF9 \| 3.259 \| DISEASES 2260 \| FGFR1 \| 5.979 \| DISEASES 2263 \| FGFR2 \| 7.633 \| DISEASES 2261 \| FGFR3 \| 6.626 \| DISEASES 64778 \| FNDC3B \| 2.575 \| DISEASES 2297 \| FOXD1 \| 1.728 \| DISEASES 2306 \| FOXD2 \| 2.4 \| DISEASES 158326 \| FREM1 \| 2.491 \| DISEASES 51343 \| FZR1 \| 1.803 \| DISEASES 2737 \| GLI3 \| 2.965 \| DISEASES 169792 \| GLIS3 \| 1.929 \| DISEASES 2778 \| GNAS \| 1.536 \| DISEASES 2719 \| GPC3 \| 2.233 \| DISEASES 10082 \| GPC6 \| 1.586 \| DISEASES 2885 \| GRB2 \| 1.412 \| DISEASES 2869 \| GRK5 \| 1.396 \| DISEASES 3167 \| HMX2 \| 1.536 \| DISEASES 84525 \| HOPX \| 1.002 \| DISEASES 51098 \| IFT52 \| 2.51 \| DISEASES 8100 \| IFT88 \| 1.125 \| DISEASES 3590 \| IL11RA \| 3.74 \| DISEASES 3664 \| IRF6 \| 1.385 \| DISEASES 11127 \| KIF3A \| 2.142 \| DISEASES 374654 \| KIF7 \| 1.467 \| DISEASES 54900 \| LAX1 \| 1.237 \| DISEASES 79648 \| MCPH1 \| 1.013 \| DISEASES 219541 \| MED19 \| 1.25 \| DISEASES 8510 \| MMP23B \| 2.643 \| DISEASES 4487 \| MSX1 \| 3.324 \| DISEASES 4745 \| NELL1 \| 5.403 \| DISEASES 4774 \| NFIA \| 1.433 \| DISEASES 1482 \| NKX2-5 \| 1.013 \| DISEASES 9241 \| NOG \| 3.78 \| DISEASES 64324 \| NSD1 \| 2.069 \| DISEASES 8481 \| OFD1 \| 1.095 \| DISEASES 25859 \| PART1 \| 1.918 \| DISEASES 5083 \| PAX9 \| 1.055 \| DISEASES 9468 \| PCYT1B \| 2.352 \| DISEASES 5137 \| PDE1C \| 1.69 \| DISEASES 5165 \| PDK3 \| 3.001 \| DISEASES 5251 \| PHEX \| 1.997 \| DISEASES 64219 \| PJA1 \| 3.431 \| DISEASES 9842 \| PLEKHM1 \| 1.934 \| DISEASES 5358 \| PLS3 \| 1.068 \| DISEASES 10631 \| POSTN \| 1.397 \| DISEASES 5578 \| PRKCA \| 1.997 \| DISEASES 5727 \| PTCH1 \| 2.334 \| DISEASES 90780 \| PYGO2 \| 1.615 \| DISEASES 51715 \| RAB23 \| 4.508 \| DISEASES 860 \| RUNX2 \| 4.851 \| DISEASES 8036 \| SHOC2 \| 1.17 \| DISEASES 114836 \| SLAMF6 \| 1.218 \| DISEASES 6635 \| SNRPE \| 1.01 \| DISEASES 55553 \| SOX6 \| 1.082 \| DISEASES 23384 \| SPECC1L \| 2.685 \| DISEASES 80309 \| SPHKAP \| 2.612 \| DISEASES 6696 \| SPP1 \| 2.942 \| DISEASES 10252 \| SPRY1 \| 1.659 \| DISEASES 6708 \| SPTA1 \| 3.527 \| DISEASES 9754 \| STARD8 \| 1.774 \| DISEASES 64220 \| STRA6 \| 1.186 \| DISEASES 161497 \| STRC \| 1.631 \| DISEASES 8464 \| SUPT3H \| 2.801 \| DISEASES 6938 \| TCF12 \| 3.317 \| DISEASES 6932 \| TCF7 \| 1.108 \| DISEASES 7042 \| TGFB2 \| 3.042 \| DISEASES 7046 \| TGFBR1 \| 2.597 \| DISEASES 7048 \| TGFBR2 \| 3.189 \| DISEASES 100038246 \| TLX1NB \| 2.202 \| DISEASES 56995 \| TULP4 \| 2.291 \| DISEASES 117581 \| TWIST2 \| 2.389 \| DISEASES 7441 \| VPREB1 \| 1.646 \| DISEASES 64856 \| VWA1 \| 2.129 \| DISEASES 57728 \| WDR19 \| 1.788 \| DISEASES 7456 \| WIPF1 \| 1.305 \| DISEASES 84107 \| ZIC4 \| 1.626 \| DISEASES
Locus	(Waiting for update.)

Disease ID	174
Disease	craniosynostosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:52) HP:0002516 \| Intracranial pressure elevation \| 4 HP:0002104 \| Absence of spontaneous respiration \| 4 HP:0000243 \| Triangular cranium shape \| 4 HP:0000238 \| Nonsyndromal hydrocephalus \| 3 HP:0007099 \| Arnold Chiari type I malformation \| 3 HP:0001363 \| Early fusion of cranial sutures \| 3 HP:0010535 \| Sleep apnea \| 3 HP:0001085 \| Papilledema \| 3 HP:0000274 \| Hypoplasia of face \| 2 HP:0004439 \| Crouzon syndrome \| 2 HP:0100543 \| Cognitive deficits \| 2 HP:0001263 \| Developmental retardation \| 2 HP:0002870 \| Obstructive sleep apnea \| 2 HP:0010442 \| Polydactyly \| 2 HP:0011800 \| Midface, flat \| 2 HP:0000327 \| Maxillary micrognathia \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0011326 \| Deformational frontal plagiocephaly \| 1 HP:0002084 \| Bifid skull \| 1 HP:0030799 \| Scaphocephaly \| 1 HP:0000767 \| Funnel chest \| 1 HP:0011297 \| Abnormality of digit \| 1 HP:0000486 \| Squint eyes \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0001357 \| Flattening of cranial vault \| 1 HP:0000347 \| Hypoplasia of mandible \| 1 HP:0001159 \| Webbed fingers or toes \| 1 HP:0007330 \| Frontal encephalocele \| 1 HP:0002902 \| Hyponatremia \| 1 HP:0000316 \| Increased distance between eye sockets \| 1 HP:0002825 \| Coccygeal tail \| 1 HP:0002308 \| Chiari malformation \| 1 HP:0002678 \| Asymmetry of skull \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0006487 \| Camptomelia \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0000248 \| Brachycephaly \| 1 HP:0045005 \| Neural tube defect \| 1 HP:0000252 \| Small head circumference \| 1 HP:0000822 \| Hypertension \| 1 HP:0002652 \| Skeletal dysplasia \| 1 HP:0000668 \| Failure of development of between one and six teeth \| 1 HP:0001083 \| Dislocated lenses \| 1 HP:0000098 \| Increased body height \| 1 HP:0011318 \| Bilateral coronal suture craniosynostosis \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0012245 \| Sex reversal \| 1 HP:0000820 \| Thyroid abnormality \| 1 HP:0002656 \| Epiphyseal dysplasia \| 1 HP:0010055 \| Abnormally broad great toes \| 1 HP:0000520 \| Anterior bulging of the globe of eye \| 1 HP:0001658 \| Myocardial infarction \| 1

Disease ID	174
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:8) C1839611 \| n syndrome \| 6 C0020255 \| hydrocephalus \| 3 C0151740 \| intracranial hypertension \| 2 C0038379 \| strabismus \| 1 C0015300 \| proptosis \| 1 C0024141 \| le syndrome \| 1 C0019270 \| herniation \| 1 C0796110 \| w syndrome \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total 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
rs10246939	24415641	5726	TAS2R38	umls:C0010278	BeFree	This study replicates previous work which showed that the coding SNP rs10246939 in the TAS2R38 gene is associated with CRS.	0.000814326	2013	TAS2R38;OR9A4	7	141972804	T	C
rs121908671	15940380	4041	LRP5	umls:C0010278	BeFree	A 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.	0.000271442	2005	LRP5	11	68357801	G	A
rs121909627	11277076	2261	FGFR3	umls:C0010278	BeFree	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.	0.030127505	2001	FGFR1	8	38424690	G	C
rs121909627	11277076	2263	FGFR2	umls:C0010278	BeFree	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.	0.160071165	2001	FGFR1	8	38424690	G	C
rs121909627	11277076	2260	FGFR1	umls:C0010278	BeFree	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.	0.014168516	2001	FGFR1	8	38424690	G	C
rs121909627	23348274	2260	FGFR1	umls:C0010278	BeFree	In 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.	0.014168516	2014	FGFR1	8	38424690	G	C
rs121909627	10942429	2260	FGFR1	umls:C0010278	BeFree	Pfeiffer 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).	0.014168516	2000	FGFR1	8	38424690	G	C
rs121913478	22585574	2263	FGFR2	umls:C0010278	BeFree	Fgfr2+/Y394C mice exhibited epidermal hyperplasia and premature closure of cranial sutures (craniosynostosis) due to abnormal cell proliferation and differentiation.	0.160071165	2012	FGFR2	10	121515280	T	C
rs121918499	24036790	2263	FGFR2	umls:C0010278	BeFree	FGFR2 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.	0.160071165	2014	FGFR2	10	121520048	C	G,A
rs121918501	22872266	2263	FGFR2	umls:C0010278	BeFree	Several 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.	0.160071165	2012	FGFR2	10	121520050	A	G,C
rs121918502	12072807	2263	FGFR2	umls:C0010278	BeFree	We 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).	0.160071165	2002	FGFR2	10	121517351	G	C
rs121918504	10951518	2263	FGFR2	umls:C0010278	BeFree	A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?	0.160071165	2000	FGFR2	10	121517460	C	T,A
rs121918504	15282208	2263	FGFR2	umls:C0010278	BeFree	In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis.	0.160071165	2004	FGFR2	10	121517460	C	T,A
rs121918504	12357470	2263	FGFR2	umls:C0010278	BeFree	A 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.	0.160071165	2002	FGFR2	10	121517460	C	T,A
rs16944	20157068	3553	IL1B	umls:C0010278	BeFree	To 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.	0.000542884	2010	IL1B	2	112837290	A	G
rs16944	20157068	7124	TNF	umls:C0010278	BeFree	To 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.	0.000814326	2010	IL1B	2	112837290	A	G
rs17561	20157068	3553	IL1B	umls:C0010278	BeFree	To 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.	0.000542884	2010	IL1A	2	112779646	C	A
rs17561	20157068	7124	TNF	umls:C0010278	BeFree	To 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.	0.000814326	2010	IL1A	2	112779646	C	A
rs1800629	20157068	7124	TNF	umls:C0010278	BeFree	To 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.	0.000814326	2010	TNF	6	31575254	G	A
rs1800629	20157068	3553	IL1B	umls:C0010278	BeFree	To 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.	0.000542884	2010	TNF	6	31575254	G	A
rs2917454	24595210	56479	KCNQ5	umls:C0010278	BeFree	In 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.	0.000271442	2014	KCNMA1	10	77132657	T	C
rs2917454	24595210	3778	KCNMA1	umls:C0010278	BeFree	In 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.	0.000271442	2014	KCNMA1	10	77132657	T	C
rs361525	20157068	7124	TNF	umls:C0010278	BeFree	To 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.	0.000814326	2010	TNF	6	31575324	G	A
rs361525	20157068	3553	IL1B	umls:C0010278	BeFree	To 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.	0.000542884	2010	TNF	6	31575324	G	A
rs373496046	22038757	2261	FGFR3	umls:C0010278	BeFree	Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.	0.030127505	2011	FGFR3	4	1803761	G	A
rs386543959	20157068	7124	TNF	umls:C0010278	BeFree	To 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.	0.000814326	2010	NA	NA	NA	NA	NA
rs386543959	20157068	3553	IL1B	umls:C0010278	BeFree	To 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.	0.000542884	2010	NA	NA	NA	NA	NA
rs4647924	15915095	2261	FGFR3	umls:C0010278	BeFree	FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.	0.030127505	2005	FGFR3	4	1801844	C	G
rs4647924	9107244	2261	FGFR3	umls:C0010278	BeFree	Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.	0.030127505	1997	FGFR3	4	1801844	C	G
rs4647924	17103449	2261	FGFR3	umls:C0010278	BeFree	P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.	0.030127505	2006	FGFR3	4	1801844	C	G
rs4647924	18818193	2261	FGFR3	umls:C0010278	BeFree	The 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.	0.030127505	2009	FGFR3	4	1801844	C	G
rs4647924	22872265	2261	FGFR3	umls:C0010278	BeFree	The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation.	0.030127505	2012	FGFR3	4	1801844	C	G
rs4647924	15915095	57492	ARID1B	umls:C0010278	BeFree	FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.	0.001085767	2005	FGFR3	4	1801844	C	G
rs4647924	9600744	2261	FGFR3	umls:C0010278	BeFree	We 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.	0.030127505	1998	FGFR3	4	1801844	C	G
rs4647924	21403557	2261	FGFR3	umls:C0010278	BeFree	The 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.	0.030127505	2011	FGFR3	4	1801844	C	G
rs4647924	9279764	57492	ARID1B	umls:C0010278	BeFree	Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.	0.001085767	1997	FGFR3	4	1801844	C	G
rs4647924	9950359	2261	FGFR3	umls:C0010278	BeFree	A 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.	0.030127505	1999	FGFR3	4	1801844	C	G
rs4647924	20707699	2261	FGFR3	umls:C0010278	BeFree	We 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.	0.030127505	2010	FGFR3	4	1801844	C	G
rs4647924	9279764	2261	FGFR3	umls:C0010278	BeFree	Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.	0.030127505	1997	FGFR3	4	1801844	C	G
rs4647924	17103449	57492	ARID1B	umls:C0010278	BeFree	P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.	0.001085767	2006	FGFR3	4	1801844	C	G
rs4647924	11467490	2261	FGFR3	umls:C0010278	BeFree	New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.	0.030127505	2001	FGFR3	4	1801844	C	G
rs4647924	10761652	2261	FGFR3	umls:C0010278	BeFree	A 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.	0.030127505	2000	FGFR3	4	1801844	C	G
rs4647924	9279753	2261	FGFR3	umls:C0010278	BeFree	Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.	0.030127505	1997	FGFR3	4	1801844	C	G
rs6907229	24595210	3778	KCNMA1	umls:C0010278	BeFree	In 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.	0.000271442	2014	KCNQ5	6	73174426	C	T
rs6907229	24595210	56479	KCNQ5	umls:C0010278	BeFree	In 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.	0.000271442	2014	KCNQ5	6	73174426	C	T
rs77543610	15310757	2263	FGFR2	umls:C0010278	BeFree	Apert 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.	0.160071165	2004	FGFR2	10	121520160	G	C
rs77543610	11277076	2260	FGFR1	umls:C0010278	BeFree	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.	0.014168516	2001	FGFR2	10	121520160	G	C
rs77543610	11277076	2263	FGFR2	umls:C0010278	BeFree	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.	0.160071165	2001	FGFR2	10	121520160	G	C
rs77543610	11277076	2261	FGFR3	umls:C0010278	BeFree	Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis.	0.030127505	2001	FGFR2	10	121520160	G	C
rs77543610	18242159	2263	FGFR2	umls:C0010278	BeFree	Apert 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).	0.160071165	2008	FGFR2	10	121520160	G	C
rs77543610	24580805	2263	FGFR2	umls:C0010278	BeFree	Here 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.	0.160071165	2014	FGFR2	10	121520160	G	C
rs79184941	11341328	2263	FGFR2	umls:C0010278	BeFree	Role of N-cadherin and protein kinase C in osteoblast gene activation induced by the S252W fibroblast growth factor receptor 2 mutation in Apert craniosynostosis.	0.160071165	2001	FGFR2	10	121520163	G	C,A
rs79184941	15310757	2263	FGFR2	umls:C0010278	BeFree	Apert 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.	0.160071165	2004	FGFR2	10	121520163	G	C,A
rs79184941	18242159	2263	FGFR2	umls:C0010278	BeFree	Apert 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).	0.160071165	2008	FGFR2	10	121520163	G	C,A
rs79184941	24580805	2263	FGFR2	umls:C0010278	BeFree	Here 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.	0.160071165	2014	FGFR2	10	121520163	G	C,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
7	33256039	rs10262453	A	C	rs10262453	23160099	6.00E-20	NA	4.17	[3.13-5.88]	130 European ancestry trios	European(130)	ALL(130)	EUR(130)	ALL(130)	Sagittal craniosynostosis	HPOID:0005461	Craniofacial disproportion	DOID:2340	craniosynostosis	D003398	Craniosynostoses	isolated scaphocephaly	Craniosynostosis	rs10262453-A	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
20	7106289	rs1884302	T	C	rs1884302	23160099	1.00E-39	NA	4.38	[3.51-5.45]	130 European ancestry trios	European(130)	ALL(130)	EUR(130)	ALL(130)	Sagittal craniosynostosis	HPOID:0005461	Craniofacial disproportion	DOID:2340	craniosynostosis	D003398	Craniosynostoses	isolated scaphocephaly	Craniosynostosis	rs1884302-C	Research Support, N.I.H., Extramural	Research Support, U.S. Gov't, P.H.S.	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	174
Disease	craniosynostosis
Case	(Waiting for update.)