Gastrointestinal Defects and Immunodeficiency Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: GST093 MIFTS: 40	Gastrointestinal Defects and Immunodeficiency Syndrome Categories: Genetic diseases, Rare diseases, Fetal diseases, Blood diseases, Gastrointestinal diseases, Immune diseases
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Aliases & Classifications for Gastrointestinal Defects and Immunodeficiency Syndrome

MalaCards integrated aliases for Gastrointestinal Defects and Immunodeficiency Syndrome:

Name: Gastrointestinal Defects and Immunodeficiency Syndrome ⁵⁷ ⁷⁵ ⁴⁰

Familial Intestinal Polyatresia Syndrome ⁵⁷ ⁵³ ⁵⁹ ⁷⁵

Multiple Gastrointestinal Atresias ¹² ²⁹ ⁶ ⁷³

Intestinal Atresia, Multiple ⁵⁷ ⁷⁵ ¹³ ⁴⁴

Multiple Intestinal Atresia ¹² ⁵⁹ ¹⁵

Intestinal Atresia, Multiple and/or Inflammatory Bowel Disease with or Without Immunodeficiency ⁵⁷ ⁷⁵

Gidid ⁵⁷ ⁷⁵

Minat ⁵⁷ ⁷⁵

Fipa ⁵⁷ ⁷⁵

Familial Intestinal Polyatresia Syndrome; Fipa ⁵⁷

Combined Immunodeficiency-Enteropathy Spectrum ⁵⁹

Pituitary Adenoma, Familial Isolated ⁷³

Intestinal Atresia, Multiple; Minat ⁵⁷

Intestinal Atresia Multiple ⁵³

Cid-Mia/early-Onset Ibd ⁵⁹

Mia ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

multiple intestinal atresia
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood,infantile;

combined immunodeficiency-enteropathy spectrum
Inheritance: Autosomal recessive;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
fatal in first few months of life in most cases

HPO:

³²

gastrointestinal defects and immunodeficiency syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Blood diseases Gastrointestinal diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations of the digestive system

Other congenital malformations of intestine

Other specified congenital malformations of intestine

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁹

Developmental anomalies during embryogenesis

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 243150

Disease Ontology ¹² DOID:14671

MeSH ⁴⁴ C562441 D007409

SNOMED-CT ⁶⁸ 95472001

Orphanet ⁵⁹ ORPHA2300 ORPHA436252

UMLS via Orphanet ⁷⁴ C0220744

ICD10 via Orphanet ³⁴ Q43.8 Q82.8

MedGen ⁴² C0220744

SNOMED-CT via HPO ⁶⁹ 258211005 93297002 21983002 more

UMLS ⁷³ C0220744 C2676191

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Summaries for Gastrointestinal Defects and Immunodeficiency Syndrome

OMIM : ⁵⁷ Gastrointestinal defects and immunodeficiency syndrome (GIDID) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014). (243150)

MalaCards based summary : Gastrointestinal Defects and Immunodeficiency Syndrome, also known as familial intestinal polyatresia syndrome, is related to combined immunodeficiency, x-linked and familial isolated pituitary adenoma. An important gene associated with Gastrointestinal Defects and Immunodeficiency Syndrome is TTC7A (Tetratricopeptide Repeat Domain 7A). Affiliated tissues include pituitary, skin and thyroid, and related phenotypes are type i diabetes mellitus and hepatitis

UniProtKB/Swiss-Prot : ⁷⁵ Gastrointestinal defects and immunodeficiency syndrome: A rare, severe congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype.

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2300Disease definitionMultiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.Visit the Orphanet disease page for more resources.

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Related Diseases for Gastrointestinal Defects and Immunodeficiency Syndrome

Diseases related to Gastrointestinal Defects and Immunodeficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)

#	Related Disease	Score	Top Affiliating Genes
1	combined immunodeficiency, x-linked	28.6	CD19 TTC7A
2	familial isolated pituitary adenoma	11.9
3	melanoma	11.7
4	pituitary adenoma 1, multiple types	11.6
5	skin melanoma	11.2
6	chromosome xq26.3 duplication syndrome	10.9
7	pituitary adenoma, prolactin-secreting	10.9
8	pancreatitis	10.5
9	pancreatic cancer	10.5
10	pituitary adenoma	10.2
11	adenoma	10.2
12	vascular disease	10.0
13	intestinal atresia	9.9
14	cervical squamous cell carcinoma	9.9
15	esophagitis	9.9
16	squamous cell carcinoma	9.9
17	cervicitis	9.9
18	adenocarcinoma	9.9
19	peritonitis	9.9
20	acroleukopathy, symmetric	9.9
21	pituitary tumors	9.9
22	colorectal cancer	9.7
23	chondrosarcoma	9.7
24	lung cancer susceptibility 3	9.7
25	pancreas adenocarcinoma	9.7
26	severe combined immunodeficiency	9.7
27	cholera	9.7
28	postpartum depression	9.7
29	depression	9.7
30	hematologic cancer	9.1	CD19 TET2
31	leukemia, acute myeloid	8.9	CD19 TET2

Graphical network of the top 20 diseases related to Gastrointestinal Defects and Immunodeficiency Syndrome:

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Symptoms & Phenotypes for Gastrointestinal Defects and Immunodeficiency Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Other:
intrauterine growth retardation

Abdomen Gastrointestinal:
bloody diarrhea
multiple areas of atresia along the small and large intestines
intestinal malrotation (in some patients)
intraluminal calcification on prenatal ultrasound or plain abdominal radiographs
bowel distention on prenatal ultrasound
more

Respiratory Lung:
cystic adenomatoid malformation, congenital (rare)

Abdomen Liver:
autoimmune hepatitis (rare)

Skin Nails Hair Skin:
psoriasis (rare)

Skin Nails Hair Hair:
transient alopecia in early childhood (in some patients)

Hematology:
autoimmune hemolytic anemia (rare)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Cardiovascular Heart:
ventricular septal defect (rare)

Abdomen External Features:
omphalocele (rare)

Abdomen Biliary Tract:
common bile duct dilation (in some patients)

Skin Nails Hair Nails:
onychopathy (rare)

Endocrine Features:
autoimmune thyroiditis (rare)
diabetes, type 1 (rare)

Immunology:
igm immunodeficiency (in some patients)
immunodeficiency, severe combined (in some patients)
thymus hypoplasia (in some patients)
autoimmunity (rare)

Clinical features from OMIM:

243150

Human phenotypes related to Gastrointestinal Defects and Immunodeficiency Syndrome:

⁵⁹ ³² (show all 34)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	type i diabetes mellitus ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0100651
2	hepatitis ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0012115
3	nail dystrophy ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0008404
4	intrauterine growth retardation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001511
5	hashimoto thyroiditis ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0000872
6	hypoplasia of the thymus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000778
7	polyhydramnios ⁵⁹ ³²	frequent (33%)	Frequent (79-30%),Frequent (79-30%)	HP:0001561
8	ventricular septal defect ⁵⁹ ³²	occasional (7.5%)	Very rare (<4-1%)	HP:0001629
9	intestinal malrotation ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002566
10	thickened skin ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001072
11	abdominal distention ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003270
12	sparse hair ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008070
13	omphalocele ⁵⁹ ³²	occasional (7.5%)	Very rare (<4-1%)	HP:0001539
14	intestinal atresia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011100
15	duodenal stenosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0100867
16	gastrointestinal atresia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0002589
17	autoimmune hemolytic anemia ⁵⁹ ³²	occasional (7.5%)	Very rare (<4-1%)	HP:0001890
18	absent eyebrow ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002223
19	severe combined immunodeficiency ⁵⁹ ³²	occasional (7.5%)	Very frequent (99-80%)	HP:0004430
20	alopecia of scalp ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002293
21	psoriasiform dermatitis ⁵⁹ ³²	occasional (7.5%)	Very rare (<4-1%)	HP:0003765
22	ectopic calcification ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010766
23	peritoneal abscess ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100592
24	jejunoileal ulceration ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005229
25	bloody diarrhea ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0025085
26	rectal abscess ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0005224
27	abnormality of the ductus choledochus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100889
28	congenital cystic adenomatoid malformation of the lung ⁵⁹ ³²	very rare (1%)	Very rare (<4-1%)	HP:0010959
29	immunodeficiency ⁵⁹		Frequent (79-30%)
30	autoimmunity ⁵⁹		Very rare (<4-1%)
31	abnormality of the skeletal system ³²			HP:0000924
32	hematochezia ³²			HP:0002573
33	recurrent abscess formation ⁵⁹		Occasional (29-5%)
34	abnormality of abdomen morphology ³²			HP:0001438

MGI Mouse Phenotypes related to Gastrointestinal Defects and Immunodeficiency Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.56	CD19 RHOA TET2 TTC7A
2	liver/biliary system	MP:0005370	9.33	CD19 TET2 TTC7A
3	neoplasm	MP:0002006	9.13	CD19 TET2 TTC7A
4	renal/urinary system	MP:0005367	8.8	CD19 TET2 TTC7A

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Drugs & Therapeutics for Gastrointestinal Defects and Immunodeficiency Syndrome

Search Clinical Trials , NIH Clinical Center for Gastrointestinal Defects and Immunodeficiency Syndrome

Cochrane evidence based reviews: intestinal atresia, multiple

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Genetic Tests for Gastrointestinal Defects and Immunodeficiency Syndrome

Genetic tests related to Gastrointestinal Defects and Immunodeficiency Syndrome:

#	Genetic test	Affiliating Genes
1	Multiple Gastrointestinal Atresias ²⁹	TTC7A

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Anatomical Context for Gastrointestinal Defects and Immunodeficiency Syndrome

MalaCards organs/tissues related to Gastrointestinal Defects and Immunodeficiency Syndrome:

⁴¹

Pituitary, Skin, Thyroid, Thymus, Lung

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Publications for Gastrointestinal Defects and Immunodeficiency Syndrome

Articles related to Gastrointestinal Defects and Immunodeficiency Syndrome:

#	Title	Authors	Year
1	Hereditary Multiple Gastrointestinal Atresia associated with Choledochal Cyst: A Rare Entity with Management Dilemma. ( 26023510 )	P R....Yk S.	2014
2	Multiple gastrointestinal atresias with cystic dilatation of the biliary duct. ( 10786985 )	Snyder C.L....Amoury R.A.	2000
3	Multiple gastrointestinal atresias with imperforate anus: pathology and pathogenesis. ( 2202215 )	Shen-Schwarz S....Fitko R.	1990

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Genes for Gastrointestinal Defects and Immunodeficiency Syndrome

Genes related to Gastrointestinal Defects and Immunodeficiency Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TTC7A	Tetratricopeptide Repeat Domain 7A	Protein Coding	1687.93	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23423984 23830146 24292712 (more) 24417819 25174867
2	TET2	Tet Methylcytosine Dioxygenase 2	Protein Coding	14	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	CD19	CD19 Molecule	Protein Coding	13.6	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	RHOA	Ras Homolog Family Member A	Protein Coding	4.01	DISEASES inferred ¹⁵

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Variations for Gastrointestinal Defects and Immunodeficiency Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Gastrointestinal Defects and Immunodeficiency Syndrome:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	TTC7A	p.Leu823Pro	VAR_069636	rs587776972
2	TTC7A	p.Glu71Lys	VAR_075126	rs147914967
3	TTC7A	p.Leu346Pro	VAR_075129
4	TTC7A	p.Leu399Pro	VAR_075130
5	TTC7A	p.Ser539Leu	VAR_075132	rs776906926
6	TTC7A	p.Ala551Asp	VAR_075133
7	TTC7A	p.Lys606Arg	VAR_075134	rs139010200
8	TTC7A	p.Ser672Pro	VAR_075135	rs149602485
9	TTC7A	p.Ala832Thr	VAR_075139	rs876657393

ClinVar genetic disease variations for Gastrointestinal Defects and Immunodeficiency Syndrome:

⁶

(show top 50) (show all 112)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TTC7A	NM_020458.3(TTC7A): c.1000_1001+2delAAGT	deletion	Pathogenic	rs587776971	GRCh37	Chromosome 2, 47221652: 47221655
2	TTC7A	NM_020458.3(TTC7A): c.1000_1001+2delAAGT	deletion	Pathogenic	rs587776971	GRCh38	Chromosome 2, 46994513: 46994516
3	TTC7A	NM_020458.3(TTC7A): c.2468T> C (p.Leu823Pro)	single nucleotide variant	Likely pathogenic	rs587776972	GRCh37	Chromosome 2, 47300953: 47300953
4	TTC7A	NM_020458.3(TTC7A): c.2468T> C (p.Leu823Pro)	single nucleotide variant	Likely pathogenic	rs587776972	GRCh38	Chromosome 2, 47073814: 47073814
5	TTC7A	NM_001288953.1(TTC7A): c.727C> T (p.Gln243Ter)	single nucleotide variant	Pathogenic	rs587777547	GRCh37	Chromosome 2, 47220653: 47220653
6	TTC7A	NM_001288953.1(TTC7A): c.727C> T (p.Gln243Ter)	single nucleotide variant	Pathogenic	rs587777547	GRCh38	Chromosome 2, 46993514: 46993514
7	TTC7A	NM_020458.3(TTC7A): c.1008C> G (p.Tyr336Ter)	single nucleotide variant	Pathogenic	rs587777548	GRCh37	Chromosome 2, 47222281: 47222281
8	TTC7A	NM_020458.3(TTC7A): c.1008C> G (p.Tyr336Ter)	single nucleotide variant	Pathogenic	rs587777548	GRCh38	Chromosome 2, 46995142: 46995142
9	TTC7A	NM_020458.3(TTC7A): c.1481delG (p.Gly494Valfs)	deletion	Pathogenic	rs587777549	GRCh37	Chromosome 2, 47249089: 47249089
10	TTC7A	NM_020458.3(TTC7A): c.1481delG (p.Gly494Valfs)	deletion	Pathogenic	rs587777549	GRCh38	Chromosome 2, 47021950: 47021950
11	TTC7A	NM_020458.3(TTC7A): c.1673_1674insG (p.Leu559Profs)	insertion	Pathogenic	rs587777550	GRCh37	Chromosome 2, 47256394: 47256395
12	TTC7A	NM_020458.3(TTC7A): c.1673_1674insG (p.Leu559Profs)	insertion	Pathogenic	rs587777550	GRCh38	Chromosome 2, 47029255: 47029256
13	TTC7A	NM_020458.3(TTC7A): c.1510+105T> A	single nucleotide variant	Pathogenic	rs587777551	GRCh37	Chromosome 2, 47249223: 47249223
14	TTC7A	NM_020458.3(TTC7A): c.1510+105T> A	single nucleotide variant	Pathogenic	rs587777551	GRCh38	Chromosome 2, 47022084: 47022084
15	TTC7A	NM_020458.3(TTC7A): c.1817A> G (p.Lys606Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139010200	GRCh38	Chromosome 2, 47046329: 47046329
16	TTC7A	NM_020458.3(TTC7A): c.1817A> G (p.Lys606Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139010200	GRCh37	Chromosome 2, 47273468: 47273468
17	TTC7A	NM_020458.3(TTC7A): c.2014T> C (p.Ser672Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149602485	GRCh37	Chromosome 2, 47277182: 47277182
18	TTC7A	NM_020458.3(TTC7A): c.2014T> C (p.Ser672Pro)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149602485	GRCh38	Chromosome 2, 47050043: 47050043
19	TTC7A	NM_001288953.1(TTC7A): c.662+1delG	deletion	Pathogenic	rs886037746	GRCh37	Chromosome 2, 47206047: 47206047
20	TTC7A	NM_001288953.1(TTC7A): c.662+1delG	deletion	Pathogenic	rs886037746	GRCh38	Chromosome 2, 46978908: 46978908
21	TTC7A	NM_001288953.1(TTC7A): c.213_216delTCTA (p.Tyr71Terfs)	deletion	Pathogenic	rs886037747	GRCh37	Chromosome 2, 47177632: 47177635
22	TTC7A	NM_001288953.1(TTC7A): c.213_216delTCTA (p.Tyr71Terfs)	deletion	Pathogenic	rs886037747	GRCh38	Chromosome 2, 46950493: 46950496
23	TTC7A	NM_020458.3(TTC7A): c.844-1G> T	single nucleotide variant	Pathogenic	rs777469885	GRCh37	Chromosome 2, 47221495: 47221495
24	TTC7A	NM_020458.3(TTC7A): c.844-1G> T	single nucleotide variant	Pathogenic	rs777469885	GRCh38	Chromosome 2, 46994356: 46994356
25	TTC7A	NM_001288953.1(TTC7A): c.1102-2A> G	single nucleotide variant	Pathogenic	rs876657392	GRCh37	Chromosome 2, 47233778: 47233778
26	TTC7A	NM_001288953.1(TTC7A): c.1102-2A> G	single nucleotide variant	Pathogenic	rs876657392	GRCh38	Chromosome 2, 47006639: 47006639
27	TTC7A	NM_001288953.1(TTC7A): c.1474C> T (p.Gln492Ter)	single nucleotide variant	Pathogenic	rs786205698	GRCh37	Chromosome 2, 47251433: 47251433
28	TTC7A	NM_001288953.1(TTC7A): c.1474C> T (p.Gln492Ter)	single nucleotide variant	Pathogenic	rs786205698	GRCh38	Chromosome 2, 47024294: 47024294
29	TTC7A	NM_001288953.1(TTC7A): c.2392G> A (p.Ala798Thr)	single nucleotide variant	Pathogenic	rs876657393	GRCh37	Chromosome 2, 47300979: 47300979
30	TTC7A	NM_001288953.1(TTC7A): c.2392G> A (p.Ala798Thr)	single nucleotide variant	Pathogenic	rs876657393	GRCh38	Chromosome 2, 47073840: 47073840
31	TTC7A	NM_001288953.1(TTC7A): c.109G> A (p.Glu37Lys)	single nucleotide variant	Pathogenic	rs147914967	GRCh38	Chromosome 2, 46950389: 46950389
32	TTC7A	NM_001288953.1(TTC7A): c.109G> A (p.Glu37Lys)	single nucleotide variant	Pathogenic	rs147914967	GRCh37	Chromosome 2, 47177528: 47177528
33	TTC7A	NM_020458.3(TTC7A): c.286G> T (p.Glu96Ter)	single nucleotide variant	Pathogenic	rs886042805	GRCh37	Chromosome 2, 47177603: 47177603
34	TTC7A	NM_020458.3(TTC7A): c.286G> T (p.Glu96Ter)	single nucleotide variant	Pathogenic	rs886042805	GRCh38	Chromosome 2, 46950464: 46950464
35	TTC7A	NM_020458.3(TTC7A): c.1183dupC (p.Gln395Profs)	duplication	Pathogenic	rs886042806	GRCh37	Chromosome 2, 47233178: 47233178
36	TTC7A	NM_020458.3(TTC7A): c.1183dupC (p.Gln395Profs)	duplication	Pathogenic	rs886042806	GRCh38	Chromosome 2, 47006039: 47006039
37	TTC7A	NM_020458.3(TTC7A): c.2470C> T (p.Gln824Ter)	single nucleotide variant	Pathogenic	rs1057516047	GRCh37	Chromosome 2, 47300955: 47300955
38	TTC7A	NM_020458.3(TTC7A): c.2470C> T (p.Gln824Ter)	single nucleotide variant	Pathogenic	rs1057516047	GRCh38	Chromosome 2, 47073816: 47073816
39	TTC7A	NM_020458.3(TTC7A): c.1129C> G (p.Gln377Glu)	single nucleotide variant	Benign/Likely benign	rs117304542	GRCh37	Chromosome 2, 47233124: 47233124
40	TTC7A	NM_020458.3(TTC7A): c.1129C> G (p.Gln377Glu)	single nucleotide variant	Benign/Likely benign	rs117304542	GRCh38	Chromosome 2, 47005985: 47005985
41	TTC7A	NM_020458.3(TTC7A): c.969C> G (p.Ala323=)	single nucleotide variant	Likely benign	rs139339890	GRCh38	Chromosome 2, 46994482: 46994482
42	TTC7A	NM_020458.3(TTC7A): c.969C> G (p.Ala323=)	single nucleotide variant	Likely benign	rs139339890	GRCh37	Chromosome 2, 47221621: 47221621
43	TTC7A	NM_020458.3(TTC7A): c.2214G> A (p.Ala738=)	single nucleotide variant	Likely benign	rs369839639	GRCh37	Chromosome 2, 47287969: 47287969
44	TTC7A	NM_020458.3(TTC7A): c.2214G> A (p.Ala738=)	single nucleotide variant	Likely benign	rs369839639	GRCh38	Chromosome 2, 47060830: 47060830
45	TTC7A	NM_020458.3(TTC7A): c.490C> T (p.Leu164=)	single nucleotide variant	Likely benign	rs149634302	GRCh37	Chromosome 2, 47184119: 47184119
46	TTC7A	NM_020458.3(TTC7A): c.490C> T (p.Leu164=)	single nucleotide variant	Likely benign	rs149634302	GRCh38	Chromosome 2, 46956980: 46956980
47	TTC7A	NM_020458.3(TTC7A): c.640T> C (p.Leu214=)	single nucleotide variant	Benign	rs57585816	GRCh37	Chromosome 2, 47202234: 47202234
48	TTC7A	NM_020458.3(TTC7A): c.640T> C (p.Leu214=)	single nucleotide variant	Benign	rs57585816	GRCh38	Chromosome 2, 46975095: 46975095
49	TTC7A	NM_020458.3(TTC7A): c.1026C> T (p.Ile342=)	single nucleotide variant	Benign	rs151317740	GRCh38	Chromosome 2, 46995160: 46995160
50	TTC7A	NM_020458.3(TTC7A): c.1026C> T (p.Ile342=)	single nucleotide variant	Benign	rs151317740	GRCh37	Chromosome 2, 47222299: 47222299

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Expression for Gastrointestinal Defects and Immunodeficiency Syndrome

Search GEO for disease gene expression data for Gastrointestinal Defects and Immunodeficiency Syndrome.

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Pathways for Gastrointestinal Defects and Immunodeficiency Syndrome

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GO Terms for Gastrointestinal Defects and Immunodeficiency Syndrome

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Sources for Gastrointestinal Defects and Immunodeficiency Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia