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HDCA
MCID: HRT039
MIFTS: 48

Heart Defects, Congenital, and Other Congenital Anomalies (HDCA)

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Heart Defects, Congenital, and Other Congenital Anomalies

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MalaCards integrated aliases for Heart Defects, Congenital, and Other Congenital Anomalies:

Name: Heart Defects, Congenital, and Other Congenital Anomalies 57 72 70
Pancreatic Agenesis and Congenital Heart Defects 57 12 72 13 70
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome 12 58 15
Pancreatic Agenesis and Congenital Heart Disease 36 29 6
Pachd 57 12 72
Hdca 57 12 72
Congenital Pancreatic Hypoplasia with Diabetes Mellitus and Congenital Heart Disease 12 20
Yorifuji-Okuno Syndrome 12 58
Yorifuji Okuno Syndrome 20 70
Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease 57
Congenital Pancreatic Agenesis with Diabetes Mellitus and Congenital Heart Disease 72
Hereditary Pancreatic Hypoplasia, Diabetes Mellitus and Congenital Heart Disease 20
Heart Disease, Congenital, and Other Congenital Anomalies 39
Pancreatic Agenesis and Congenital Heart Defects; Pachd 57
Congenital Heart Defects and Other Congenital Anomalies 12

Characteristics:

Orphanet epidemiological data:

58
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
patients frequently have additional malformations or abnormalities, especially in the hepatobiliary and gastrointestinal systems


HPO:

31
heart defects, congenital, and other congenital anomalies:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare endocrine diseases


Sources

Summaries for Heart Defects, Congenital, and Other Congenital Anomalies

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2255 Definition Pancreatic hypoplasia-diabetes- congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). Epidemiology It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). Genetic counseling The syndrome appears to be inherited as an autosomal dominant trait.

MalaCards based summary : Heart Defects, Congenital, and Other Congenital Anomalies, also known as pancreatic agenesis and congenital heart defects, is related to diabetes mellitus, 6q24-related transient neonatal and atp8b1 deficiency. An important gene associated with Heart Defects, Congenital, and Other Congenital Anomalies is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Affiliated tissues include heart, pancreas and ovary, and related phenotypes are exocrine pancreatic insufficiency and ventricular septal defect

Disease Ontology : 12 A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has material basis in heterozygous mutation in GATA6 on chromosome 18q11.2.

KEGG : 36 Pancreatic agenesis and congenital heart disease is a rare autosomal dominant disorder characterized by neonatal diabetes with pancreatic hypoplasia and congenital heart disease. Mutations in GATA6 has been linked to this disease. GATA6 is expressed during the embryogenesis of a variety of endodermally derived organs, including the heart, pancreas, ovary, lung, and liver.

UniProtKB/Swiss-Prot : 72 Pancreatic agenesis and congenital heart defects: An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot.

More information from OMIM: 600001
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Related Diseases for Heart Defects, Congenital, and Other Congenital Anomalies

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Diseases related to Heart Defects, Congenital, and Other Congenital Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, 6q24-related transient neonatal 10.3
2 atp8b1 deficiency 10.2 NR1H4 ABCB11
3 diaphragmatic hernia, congenital 10.1
4 patent ductus arteriosus 1 10.1
5 atrioventricular septal defect 5 10.1
6 pancreatic agenesis 10.1
7 permanent neonatal diabetes mellitus 10.1
8 neonatal diabetes 10.1
9 ventricular septal defect 10.1
10 heart septal defect 10.1
11 cholestasis, progressive familial intrahepatic, 4 10.1 NR1H4 ABCB11
12 pancreas, dorsal, agenesis of 10.1
13 heart disease 10.1
14 autosomal dominant non-syndromic intellectual disability 3 10.1 UGT2B4 ABCB11
15 cholangitis 10.1 NR1H4 GPBAR1 ABCB11
16 bile reflux 10.1 NR1H4 GPBAR1
17 choline deficiency disease 10.0 NR1H4 GPBAR1
18 cerebrotendinous xanthomatosis 10.0 NR1H4 CYP7B1 CYP7A1
19 sclerosing cholangitis 10.0 NR1H4 GPBAR1 ABCB11
20 cholestasis, intrahepatic, of pregnancy, 1 10.0 SLC10A2 NR1H4 ABCB11
21 gallbladder disease 10.0 NR1H4 CYP7A1 ABCB11
22 hypercholesterolemia, familial, 1 10.0 SLC10A2 NR1H4 CYP7A1
23 functional diarrhea 10.0 SLC10A2 NR1H4 GPBAR1 CYP7A1
24 intrahepatic cholestasis of pregnancy 10.0 NR1H4 GPBAR1 ABCB11
25 cholestasis, progressive familial intrahepatic, 5 9.9 NR1H4 NR0B2 ABCB11
26 crigler-najjar syndrome, type i 9.8 UGT2B7 UGT2B4 ABCB11
27 biliary atresia 9.8 SLC10A2 SLC10A1 NR1H4 ABCB11
28 primary biliary cholangitis 9.8 SLC51A NR1H4 GPBAR1 CYP7A1 ABCB11
29 hepatitis d 9.8 SLC10A2 SLC10A1
30 pericholangitis 9.8 SLC51A SLC10A2 SLC10A1 ABCB11
31 familial intrahepatic cholestasis 9.6 SLC10A2 NR1H4 FABP6 ABCB11
32 extrahepatic cholestasis 9.4 SLC51B SLC51A SLC10A1 NR1H4 CYP8B1 CYP7A1
33 cholestasis, benign recurrent intrahepatic, 2 9.4 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 CYP7A1
34 bile acid synthesis defect, congenital, 2 9.3 SLC51B SLC10A1 NR1H4 NR0B2 GPBAR1 CYP7A1
35 cholestasis, progressive familial intrahepatic, 3 9.2 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 CYP8B1
36 bilirubin metabolic disorder 9.1 UGT2B7 UGT2B4 SLC51A SLC10A2 SLC10A1 NR1H4
37 cholestasis 9.1 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2
38 cholestasis, progressive familial intrahepatic, 1 9.1 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2
39 cholestasis, benign recurrent intrahepatic, 1 9.0 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2
40 cholangitis, primary sclerosing 9.0 SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2 GPBAR1
41 biliary tract disease 8.8 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2
42 bile duct disease 8.8 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2
43 progressive familial intrahepatic cholestasis 8.5 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2
44 cholestasis, progressive familial intrahepatic, 2 8.5 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2
45 leber plus disease 7.9 UGT2B4 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4

Graphical network of the top 20 diseases related to Heart Defects, Congenital, and Other Congenital Anomalies:



Diseases related to Heart Defects, Congenital, and Other Congenital Anomalies
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Symptoms & Phenotypes for Heart Defects, Congenital, and Other Congenital Anomalies

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Human phenotypes related to Heart Defects, Congenital, and Other Congenital Anomalies:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 exocrine pancreatic insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0001738
2 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
3 neonatal insulin-dependent diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000857
4 patent foramen ovale 58 31 very rare (1%) Very frequent (99-80%) HP:0001655
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
8 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
9 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
10 intermittent diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002254
11 pancreatic hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002594
12 pancreatic aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100801
13 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
14 tetralogy of fallot 58 31 very rare (1%) Occasional (29-5%) HP:0001636
15 patent ductus arteriosus 58 31 very rare (1%) Occasional (29-5%) HP:0001643
16 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
17 pulmonary artery stenosis 58 31 very rare (1%) Occasional (29-5%) HP:0004415
18 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
19 transposition of the great arteries 58 31 occasional (7.5%) Occasional (29-5%) HP:0001669
20 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
21 congenital hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000851
22 prolonged partial thromboplastin time 58 31 occasional (7.5%) Occasional (29-5%) HP:0003645
23 hypoplasia of right ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0004762
24 hypoplastic tricuspid valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0011573
25 double outlet left ventricle 58 31 very rare (1%) Occasional (29-5%) HP:0011581
26 inguinal hernia 31 occasional (7.5%) HP:0000023
27 microcephaly 31 occasional (7.5%) HP:0000252
28 microcolon 31 occasional (7.5%) HP:0004388
29 seizure 31 occasional (7.5%) HP:0001250
30 umbilical hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0001537
31 interrupted aortic arch 58 31 very rare (1%) Very rare (<4-1%) HP:0011611
32 intestinal malrotation 58 31 very rare (1%) Very rare (<4-1%) HP:0002566
33 congenital diaphragmatic hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0000776
34 ureteral duplication 58 31 very rare (1%) Very rare (<4-1%) HP:0000073
35 single umbilical artery 58 31 very rare (1%) Very rare (<4-1%) HP:0001195
36 cervical ribs 58 31 very rare (1%) Very rare (<4-1%) HP:0000891
37 aplasia/hypoplasia of the gallbladder 58 31 very rare (1%) Very rare (<4-1%) HP:0011466
38 anterior pituitary agenesis 58 31 very rare (1%) Very rare (<4-1%) HP:0010626
39 biliary atresia 58 31 very rare (1%) Very rare (<4-1%) HP:0005912
40 congenital defect of the pericardium 58 31 very rare (1%) Very rare (<4-1%) HP:0011628
41 mild microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0040196
42 global developmental delay 31 very rare (1%) HP:0001263
43 truncus arteriosus 31 very rare (1%) HP:0001660
44 absent gallbladder 31 very rare (1%) HP:0011467
45 perimembranous ventricular septal defect 31 very rare (1%) HP:0011682
46 colon perforation 31 very rare (1%) HP:0031369
47 aplasia of the left hemidiaphragm 31 very rare (1%) HP:0009112
48 total absence of the pericardium 31 very rare (1%) HP:0011629
49 seizures 58 Occasional (29-5%)
50 diabetes mellitus 31 HP:0000819

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
intrauterine growth retardation

Cardiovascular Vascular:
patent ductus arteriosus
interrupted aortic arch
truncus arteriosus
pulmonary stenosis
hypoplastic pulmonary artery
more
Neurologic Central Nervous System:
developmental delay
seizures (in some patients)
pituitary agenesis (rare)

Genitourinary External Genitalia Male:
inguinal hernia (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Abdomen Gastrointestinal:
intestinal malrotation (rare)
colon perforation (rare)
microcolon (rare)

Chest Ribs Sternum Clavicles And Scapulae:
bilateral cervical ribs (rare)
absent right 12th rib (rare)

Abdomen Pancreas:
pancreatic agenesis or severe hypoplasia

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
patent foramen ovale
ventricular septal defects, muscular
ventricular septal defect, perimembranous
more
Endocrine Features:
hyperglycemia
exocrine pancreatic deficiency
transient hypothyroidism (in some patients)

Abdomen External Features:
umbilical hernia (rare)

Abdomen Biliary Tract:
gallbladder agenesis
biliary atresia (in some patients)

Chest Diaphragm:
diaphragmatic hernia (in some patients)

Genitourinary Ureters:
ureteral duplication (rare)

Abdomen Liver:
hepatic inflammation

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery (rare)

Clinical features from OMIM®:

600001 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Heart Defects, Congenital, and Other Congenital Anomalies:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ABCB11 CYP7A1 CYP7B1 CYP8B1 FABP6 GATA6
2 liver/biliary system MP:0005370 9.28 ABCB11 CYP7A1 CYP8B1 FABP6 GATA6 GPBAR1
Sources

Drugs & Therapeutics for Heart Defects, Congenital, and Other Congenital Anomalies

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Search Clinical Trials , NIH Clinical Center for Heart Defects, Congenital, and Other Congenital Anomalies

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Genetic Tests for Heart Defects, Congenital, and Other Congenital Anomalies

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Genetic tests related to Heart Defects, Congenital, and Other Congenital Anomalies:

# Genetic test Affiliating Genes
1 Pancreatic Agenesis and Congenital Heart Disease 29 GATA6
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Anatomical Context for Heart Defects, Congenital, and Other Congenital Anomalies

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MalaCards organs/tissues related to Heart Defects, Congenital, and Other Congenital Anomalies:

40
Heart, Pancreas, Ovary, Pituitary, Colon
Sources

Publications for Heart Defects, Congenital, and Other Congenital Anomalies

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Articles related to Heart Defects, Congenital, and Other Congenital Anomalies:

# Title Authors PMID Year
1
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 6 57
24385578 2014
2
Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation. 57 6
22962692 2012
3
GATA6 haploinsufficiency causes pancreatic agenesis in humans. 6 57
22158542 2011
4
Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome? 57 6
8071961 1994
5
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. 57 61
20082465 2010
6
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay. 61
24310933 2014
Sources

Variations for Heart Defects, Congenital, and Other Congenital Anomalies

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ClinVar genetic disease variations for Heart Defects, Congenital, and Other Congenital Anomalies:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA6 NM_005257.5(GATA6):c.1504_1505del (p.Lys502fs) Deletion Pathogenic 39844 rs587776936 GRCh37: 18:19762792-19762793
GRCh38: 18:22182831-22182832
2 GATA6 NM_005257.5(GATA6):c.1087C>T (p.Gln363Ter) SNV Pathogenic 211063 rs797045593 GRCh37: 18:19752192-19752192
GRCh38: 18:22172231-22172231
3 GATA6 NM_005257.5(GATA6):c.1366C>T (p.Arg456Cys) SNV Pathogenic 30213 rs387906818 GRCh37: 18:19761477-19761477
GRCh38: 18:22181516-22181516
4 GATA6 NM_005257.5(GATA6):c.712G>T (p.Gly238Ter) SNV Pathogenic 156010 rs587777710 GRCh37: 18:19751817-19751817
GRCh38: 18:22171856-22171856
5 GATA6 NM_005257.5(GATA6):c.1072del (p.Val358fs) Deletion Pathogenic 156011 rs1555628863 GRCh37: 18:19752176-19752176
GRCh38: 18:22172215-22172215
6 GATA6 NM_005257.5(GATA6):c.1399G>A (p.Ala467Thr) SNV Pathogenic 30216 rs387906820 GRCh37: 18:19761510-19761510
GRCh38: 18:22181549-22181549
7 GATA6 NM_005257.5(GATA6):c.1396A>G (p.Asn466Asp) SNV Pathogenic 30215 rs387906813 GRCh37: 18:19761507-19761507
GRCh38: 18:22181546-22181546
8 GATA6 NM_005257.5(GATA6):c.1367G>A (p.Arg456His) SNV Pathogenic 30214 rs387906819 GRCh37: 18:19761478-19761478
GRCh38: 18:22181517-22181517
9 GATA6 NM_005257.5(GATA6):c.1448_1455del (p.Met483fs) Deletion Pathogenic 30212 rs587776872 GRCh37: 18:19762736-19762743
GRCh38: 18:22182775-22182782
10 GATA6 NM_005257.5(GATA6):c.1354A>G (p.Thr452Ala) SNV Pathogenic 30211 rs387906817 GRCh37: 18:19761465-19761465
GRCh38: 18:22181504-22181504
11 GATA6 NM_005257.5(GATA6):c.839G>C (p.Gly280Ala) SNV Uncertain significance 540131 rs904519303 GRCh37: 18:19751944-19751944
GRCh38: 18:22171983-22171983
12 GATA6 NM_005257.5(GATA6):c.233T>C (p.Leu78Pro) SNV Uncertain significance 540134 rs1253034411 GRCh37: 18:19751338-19751338
GRCh38: 18:22171377-22171377

UniProtKB/Swiss-Prot genetic disease variations for Heart Defects, Congenital, and Other Congenital Anomalies:

72
# Symbol AA change Variation ID SNP ID
1 GATA6 p.Thr452Ala VAR_067384 rs387906817
2 GATA6 p.Arg456Cys VAR_067385 rs387906818
3 GATA6 p.Arg456His VAR_067386 rs387906819
4 GATA6 p.Asn466Asp VAR_067387 rs387906813
5 GATA6 p.Ala467Thr VAR_067389 rs387906820
6 GATA6 p.Lys473Gln VAR_067390

Sources

Expression for Heart Defects, Congenital, and Other Congenital Anomalies

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Search GEO for disease gene expression data for Heart Defects, Congenital, and Other Congenital Anomalies.
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Pathways for Heart Defects, Congenital, and Other Congenital Anomalies

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Pathways related to Heart Defects, Congenital, and Other Congenital Anomalies according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.8 UGT2B7 UGT2B4 SLC10A2 SLC10A1 NR1H4 HDC
2
Cytochrome P450 - arranged by substrate type 65
Show member pathways
 12.96 UGT2B7 UGT2B4 NR1H4 CYP8B1 CYP7B1 CYP7A1
3
Synthesis of bile acids and bile salts 65
Show member pathways
 12.1 SLC10A2 SLC10A1 NR1H4 FABP6 CYP8B1 CYP7B1
4
Statin Pathway - Generalized, Pharmacokinetics 60
Show member pathways
 11.74 UGT2B7 UGT2B4 ABCB11
5
Steroid hormone biosynthesis 36
Show member pathways
 11.5 UGT2B7 UGT2B4 CYP7B1 CYP7A1
6
PPAR signaling pathway 36
11.49 FABP6 CYP8B1 CYP7A1
7
Bile secretion 36
11.28 UGT2B7 UGT2B4 SLC51B SLC51A SLC10A2 SLC10A1
8
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.17 NR1H4 CYP8B1 CYP7A1 ABCB11
9
PPAR Alpha Pathway 1
10.94 CYP8B1 CYP7A1
10
Drug Induction of Bile Acid Pathway 1
10.86 SLC51B SLC51A SLC10A1 NR1H4 CYP7A1 ABCB11
11
Farnesoid X Receptor Pathway 1
10.78 UGT2B4 SLC10A1 NR1H4 NR0B2 CYP8B1 CYP7A1
12
Bupropion Pathway, Pharmacokinetics 60
10.67 UGT2B7 UGT2B4
13
Propranolol Pathway, Pharmacokinetics 60
10.41 UGT2B7 UGT2B4
Sources

GO Terms for Heart Defects, Congenital, and Other Congenital Anomalies

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Cellular components related to Heart Defects, Congenital, and Other Congenital Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10 UGT2B7 UGT2B4 SLC51B SLC51A SLC10A2 SLC10A1
2 endoplasmic reticulum membrane GO:0005789 9.63 UGT2B7 UGT2B4 SLC51A CYP8B1 CYP7B1 CYP7A1
3 basolateral plasma membrane GO:0016323 9.26 SLC51B SLC51A SLC10A1 ABCB11
4 organelle membrane GO:0031090 8.92 UGT2B4 CYP8B1 CYP7B1 CYP7A1

Biological processes related to Heart Defects, Congenital, and Other Congenital Anomalies according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.89 SLC51B SLC51A SLC10A2 SLC10A1 ABCB11
2 response to organic cyclic compound GO:0014070 9.73 SLC10A1 NR0B2 CYP7A1
3 steroid metabolic process GO:0008202 9.72 UGT2B7 CYP7B1 CYP7A1
4 response to ethanol GO:0045471 9.71 SLC10A1 NR0B2 CYP7A1
5 cholesterol metabolic process GO:0008203 9.65 NR0B2 CYP7B1 CYP7A1
6 estrogen metabolic process GO:0008210 9.57 UGT2B7 UGT2B4
7 cholesterol homeostasis GO:0042632 9.56 NR1H4 CYP7B1 CYP7A1 ABCB11
8 cellular glucuronidation GO:0052695 9.52 UGT2B7 UGT2B4
9 bile acid metabolic process GO:0008206 9.51 NR1H4 ABCB11
10 sterol metabolic process GO:0016125 9.5 CYP8B1 CYP7B1 CYP7A1
11 organic substance transport GO:0071702 9.46 SLC51B SLC51A
12 bile acid biosynthetic process GO:0006699 9.46 CYP8B1 CYP7B1 CYP7A1 ABCB11
13 bile acid secretion GO:0032782 9.43 SLC51B SLC51A
14 cellular response to bile acid GO:1903413 9.4 NR1H4 GPBAR1
15 regulation of bile acid biosynthetic process GO:0070857 9.37 NR1H4 CYP7A1
16 bile acid signaling pathway GO:0038183 9.26 SLC10A1 NR1H4 CYP8B1 CYP7A1
17 bile acid and bile salt transport GO:0015721 9.23 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2

Molecular functions related to Heart Defects, Congenital, and Other Congenital Anomalies according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.65 CYP8B1 CYP7B1 CYP7A1
2 iron ion binding GO:0005506 9.61 CYP8B1 CYP7B1 CYP7A1
3 monooxygenase activity GO:0004497 9.54 CYP8B1 CYP7B1 CYP7A1
4 steroid hydroxylase activity GO:0008395 9.52 CYP7B1 CYP7A1
5 glucuronosyltransferase activity GO:0015020 9.51 UGT2B7 UGT2B4
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.5 CYP8B1 CYP7B1 CYP7A1
7 retinoic acid binding GO:0001972 9.49 UGT2B7 UGT2B4
8 UDP-glycosyltransferase activity GO:0008194 9.46 UGT2B7 UGT2B4
9 retinoid X receptor binding GO:0046965 9.4 NR1H4 NR0B2
10 transporter activity GO:0005215 9.33 SLC51B SLC51A ABCB11
11 bile acid:sodium symporter activity GO:0008508 9.26 SLC10A2 SLC10A1
12 bile acid receptor activity GO:0038181 8.96 NR1H4 GPBAR1
13 bile acid transmembrane transporter activity GO:0015125 8.92 SLC51B SLC51A SLC10A1 ABCB11
Sources

Sources for Heart Defects, Congenital, and Other Congenital Anomalies

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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