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encyclopedia of Rare Disease Annotation for Precision Medicine

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	gastroschisis

Disease ID	227
Disease	gastroschisis
Definition	A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM.
Synonym	congenital fissure of the abdominal cavity gastroschises gastroschisis (disorder) gastroschisis [disease/finding]
Orphanet	ORPHANET:2368
OMIM	OMIM:230750
DOID	DOID:11044
ICD10	ICD10CM:Q79.3
UMLS	C0265706
MeSH	D020139
SNOMED-CT	SNOMEDCT_US_2016_09_01:72951007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0021828 \| intestinal atresia \| 6 C0795690 \| omphalocele \| 2 C0036992 \| short bowel syndrome \| 2 C0036439 \| scoliosis \| 1 C0039538 \| teratoma \| 1 C0038353 \| gastric dilation \| 1 C0021843 \| bowel obstruction \| 1 C0042961 \| intestinal volvulus \| 1 C0019569 \| hirschsprung's disease \| 1 C0042961 \| volvulus \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 118 \| ADD1 \| CIPHER 3383 \| ICAM1 \| CIPHER 4846 \| NOS3 \| CIPHER 4878 \| NPPA \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:36) 174 \| AFP \| 4.652 \| DISEASES 408 \| ARRB1 \| 1.594 \| DISEASES 7439 \| BEST1 \| 1.469 \| DISEASES 54897 \| CASZ1 \| 2.458 \| DISEASES 79827 \| CLMP \| 2.765 \| DISEASES 9937 \| DCLRE1A \| 2.674 \| DISEASES 1717 \| DHCR7 \| 1.452 \| DISEASES 1719 \| DHFR \| 1.261 \| DISEASES 29940 \| DSE \| 1.862 \| DISEASES 26298 \| EHF \| 1.964 \| DISEASES 23741 \| EID1 \| 3.411 \| DISEASES 3266 \| ERAS \| 1.843 \| DISEASES 26190 \| FBXW2 \| 2.077 \| DISEASES 2934 \| GSN \| 1.02 \| DISEASES 2950 \| GSTP1 \| 1.316 \| DISEASES 3386 \| ICAM4 \| 2.957 \| DISEASES 9118 \| INA \| 3.861 \| DISEASES 3712 \| IVD \| 1.236 \| DISEASES 9 \| NAT1 \| 1.899 \| DISEASES 23413 \| NCS1 \| 2.245 \| DISEASES 4878 \| NPPA \| 1.005 \| DISEASES 4987 \| OPRL1 \| 2.228 \| DISEASES 5034 \| P4HB \| 1.391 \| DISEASES 5069 \| PAPPA \| 1.098 \| DISEASES 27445 \| PCLO \| 1.927 \| DISEASES 10611 \| PDLIM5 \| 1.926 \| DISEASES 23481 \| PES1 \| 1.33 \| DISEASES 55361 \| PI4K2A \| 1.151 \| DISEASES 146713 \| RBFOX3 \| 1.716 \| DISEASES 23513 \| SCRIB \| 2.722 \| DISEASES 871 \| SERPINH1 \| 1.051 \| DISEASES 6439 \| SFTPB \| 1.501 \| DISEASES 26503 \| SLC17A5 \| 1.559 \| DISEASES 6817 \| SULT1A1 \| 1.636 \| DISEASES 6818 \| SULT1A3 \| 1.803 \| DISEASES 445329 \| SULT1A4 \| 1.827 \| DISEASES
Locus	(Waiting for update.)

Disease ID	227
Disease	gastroschisis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0011100 \| Intestinal atresia HP:0100016 \| Abnormality of the mesentery HP:0001543 \| Gastroschisis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:21) HP:0011100 \| Intestinal atresia \| 4 HP:0000078 \| Genital abnormalities \| 3 HP:0010448 \| Large intestinal atresia \| 2 HP:0001539 \| Omphalocele \| 2 HP:0001622 \| Premature delivery \| 2 HP:0005235 \| Jejunal atresia \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0009792 \| Teratoma \| 1 HP:0001511 \| Prenatal onset growth retardation \| 1 HP:0002566 \| Intestinal malrotation \| 1 HP:0002650 \| Scoliosis \| 1 HP:0011968 \| Feeding difficulties \| 1 HP:0002580 \| Volvulus \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0000028 \| Cryptorchidism \| 1 HP:0000010 \| Frequent urinary tract infections \| 1 HP:0010866 \| Congenital anterior abdominal wall defect \| 1 HP:0000322 \| Short philtrum \| 1 HP:0030736 \| Sacrococcygeal teratoma \| 1 HP:0001683 \| Ectopia cordis \| 1 HP:0030770 \| Craniorachischisis \| 1

Disease ID	227
Disease	gastroschisis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:15) C2707258 \| infections C1963165 \| malabsorption C0860204 \| cholestatic liver disease C0795690 \| omphalocele C0268059 \| neonatal haemochromatosis C0079924 \| oligohydramnios C0036992 \| short bowel syndrome C0031154 \| peritonitis C0021828 \| intestinal atresia C0021308 \| infarction C0020598 \| hypocalcemia C0013418 \| dystocia C0009492 \| compartment syndrome C0008732 \| chylous ascites C0008370 \| cholestasis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0021828 \| intestinal atresia \| 4 C0036992 \| short bowel syndrome \| 2 C0795690 \| omphalocele \| 2 C0021311 \| infections \| 1

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

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

All Snps(Total Genotypes:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1799969	17051589	118	ADD1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ICAM1;LOC105372272	19	10284116	G	A
rs1799969	17051589	4846	NOS3	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002909916	2006	ICAM1;LOC105372272	19	10284116	G	A
rs1799969	17051589	3383	ICAM1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ICAM1;LOC105372272	19	10284116	G	A
rs1799969	17051589	4878	NPPA	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ICAM1;LOC105372272	19	10284116	G	A
rs1799983	17051589	118	ADD1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	NOS3	7	150999023	T	G
rs1799983	17051589	4878	NPPA	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	NOS3	7	150999023	T	G
rs1799983	17051589	4846	NOS3	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002909916	2006	NOS3	7	150999023	T	G
rs1799983	17051589	3383	ICAM1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	NOS3	7	150999023	T	G
rs4961	17051589	3383	ICAM1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ADD1	4	2904980	G	T
rs4961	17051589	118	ADD1	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ADD1	4	2904980	G	T
rs4961	17051589	4846	NOS3	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002909916	2006	ADD1	4	2904980	G	T
rs4961	17051589	4878	NPPA	umls:C0265706	BeFree	In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8).	0.002638474	2006	ADD1	4	2904980	G	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

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

Mapped by homologous gene(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0011100	Intestinal atresia	MP:0011413	colorless urine	absence of the usual straw-coloration of the urine
HP:0001543	Gastroschisis	MP:0011206	absent visceral yolk sac	absence of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo

Disease ID	227
Disease	gastroschisis
Case	(Waiting for update.)

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