HDCA
MCID: HRT039
MIFTS: 48

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

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Heart Defects, Congenital, and Other Congenital Anomalies

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

Name: Heart Defects, Congenital, and Other Congenital Anomalies 56 73 71
Pancreatic Agenesis and Congenital Heart Defects 56 12 73 13 71
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome 12 58 15
Pancreatic Agenesis and Congenital Heart Disease 36 29 6
Pachd 56 12 73
Hdca 56 12 73
Congenital Pancreatic Hypoplasia with Diabetes Mellitus and Congenital Heart Disease 12 52
Yorifuji-Okuno Syndrome 12 58
Yorifuji Okuno Syndrome 52 71
Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease 56
Congenital Pancreatic Agenesis with Diabetes Mellitus and Congenital Heart Disease 73
Hereditary Pancreatic Hypoplasia, Diabetes Mellitus and Congenital Heart Disease 52
Heart Disease, Congenital, and Other Congenital Anomalies 39
Pancreatic Agenesis and Congenital Heart Defects; Pachd 56
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:

56
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:

Orphanet: 58  
Rare endocrine diseases


Summaries for Heart Defects, Congenital, and Other Congenital Anomalies

NIH Rare Diseases : 52 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 . Visit the Orphanet disease page for more resources.

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, liver and lung, 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 : 73 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

Related Diseases for Heart Defects, Congenital, and Other Congenital Anomalies

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, 6q24-related transient neonatal 10.2
2 atp8b1 deficiency 10.2 NR1H4 ABCB11
3 lipid storage disease 10.0 NR1H4 CYP7A1 CCR6
4 cholangitis 10.0 NR1H4 GPBAR1 ABCB11
5 diaphragmatic hernia, congenital 10.0
6 diabetes mellitus, permanent neonatal 1 10.0
7 patent ductus arteriosus 1 10.0
8 diabetes mellitus, permanent neonatal 4 10.0
9 pancreatic agenesis 10.0
10 neonatal diabetes mellitus 10.0
11 ventricular septal defect 10.0
12 heart septal defect 10.0
13 pancreas, dorsal, agenesis of 10.0
14 bile reflux 10.0 NR1H4 GPBAR1
15 cholestasis, progressive familial intrahepatic, 4 9.9 SLC10A2 NR1H4 ABCB11
16 autosomal dominant non-syndromic intellectual disability 3 9.9 UGT2B4 SLC51A ABCB11
17 cholestasis, intrahepatic, of pregnancy, 1 9.9 SLC10A2 NR1H4 ABCB11
18 sclerosing cholangitis 9.9 NR1H4 GPBAR1 ABCB11
19 xanthomatosis 9.9 NR1H4 CYP7B1 CYP7A1
20 functional diarrhea 9.9 SLC10A2 NR1H4 GPBAR1 CYP7A1
21 cerebrotendinous xanthomatosis 9.9 NR1H4 CYP7B1 CYP7A1
22 gallbladder disease 9.9 NR1H4 CCR6 ABCB11
23 intrahepatic cholestasis of pregnancy 9.8 NR1H4 GPBAR1 ABCB11
24 choline deficiency disease 9.8 NR1H4 GPBAR1
25 cholestasis, progressive familial intrahepatic, 5 9.7 NR1H4 NR0B2 ABCB11
26 familial intrahepatic cholestasis 9.6 SLC10A2 NR1H4 FABP6 ABCB11
27 biliary atresia 9.6 SLC10A2 SLC10A1 NR1H4 ABCB11
28 pericholangitis 9.6 SLC51A SLC10A2 SLC10A1 ABCB11
29 primary biliary cirrhosis 9.5 SLC10A1 NR1H4 CYP7A1 ABCB11
30 cholestasis, progressive familial intrahepatic, 3 9.1 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 ABCB11
31 extrahepatic cholestasis 9.0 SLC51B SLC51A SLC10A1 NR1H4 CYP8B1 CYP7A1
32 cholestasis, benign recurrent intrahepatic, 2 9.0 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 CYP7A1
33 cholestasis, progressive familial intrahepatic, 1 9.0 SLC10A2 SLC10A1 NR1H4 NR0B2 CYP7A1 ABCB11
34 cholestasis, benign recurrent intrahepatic, 1 8.9 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 CYP7A1
35 progressive familial intrahepatic cholestasis 8.8 SLC51A SLC10A2 SLC10A1 NR1H4 FABP6 CYP7A1
36 bile acid synthesis defect, congenital, 2 8.8 SLC51B SLC10A1 NR1H4 NR0B2 GPBAR1 CYP7A1
37 cholestasis, progressive familial intrahepatic, 2 8.8 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 CYP8B1
38 biliary tract disease 8.2 SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2 GPBAR1
39 bile duct disease 8.2 SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2 GPBAR1
40 cholangitis, primary sclerosing 8.2 SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2 GPBAR1
41 cholestasis 7.9 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 NR0B2
42 leber plus disease 6.9 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

Symptoms & Phenotypes for Heart Defects, Congenital, and Other Congenital Anomalies

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

58 31 (show top 50) (show all 52)
# 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 hallmark (90%) 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 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
8 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
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 umbilical hernia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001537
14 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
15 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
16 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
17 intestinal malrotation 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002566
18 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
19 congenital diaphragmatic hernia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000776
20 pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004415
21 ureteral duplication 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000073
22 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
23 single umbilical artery 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001195
24 transposition of the great arteries 58 31 occasional (7.5%) Occasional (29-5%) HP:0001669
25 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
26 congenital hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000851
27 prolonged partial thromboplastin time 58 31 occasional (7.5%) Occasional (29-5%) HP:0003645
28 hypoplasia of right ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0004762
29 hypoplastic tricuspid valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0011573
30 double outlet left ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0011581
31 biliary atresia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0005912
32 inguinal hernia 31 occasional (7.5%) HP:0000023
33 microcephaly 31 occasional (7.5%) HP:0000252
34 microcolon 31 occasional (7.5%) HP:0004388
35 seizure 31 occasional (7.5%) HP:0001250
36 interrupted aortic arch 58 31 very rare (1%) Very rare (<4-1%) HP:0011611
37 cervical ribs 58 31 very rare (1%) Very rare (<4-1%) HP:0000891
38 aplasia/hypoplasia of the gallbladder 58 31 very rare (1%) Very rare (<4-1%) HP:0011466
39 anterior pituitary agenesis 58 31 very rare (1%) Very rare (<4-1%) HP:0010626
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 colon perforation 31 very rare (1%) HP:0031369
43 atrial septal defect 58 31 Very frequent (99-80%) HP:0001631
44 global developmental delay 31 HP:0001263
45 seizures 58 Occasional (29-5%)
46 hernia 58 Frequent (79-30%)
47 abnormality of the skeletal system 31 HP:0000924
48 diabetes mellitus 31 HP:0000819
49 truncus arteriosus 31 HP:0001660
50 hyperglycemia 31 HP:0003074

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 ABCB11 CCR6 CYP7A1 CYP7B1 CYP8B1 FABP6
2 liver/biliary system MP:0005370 9.28 ABCB11 CYP7A1 CYP8B1 FABP6 GATA6 GPBAR1

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

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

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

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

# Genetic test Affiliating Genes
1 Pancreatic Agenesis and Congenital Heart Disease 29 GATA6

Anatomical Context for Heart Defects, Congenital, and Other Congenital Anomalies

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

40
Heart, Liver, Lung, Pancreas, Ovary, Colon, Pituitary

Publications for Heart Defects, Congenital, and Other Congenital Anomalies

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 56
24385578 2014
2
Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation. 56 6
22962692 2012
3
GATA6 haploinsufficiency causes pancreatic agenesis in humans. 6 56
22158542 2011
4
Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome? 56 6
8071961 1994
5
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. 56 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

Variations for Heart Defects, Congenital, and Other Congenital Anomalies

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

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

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

73
# 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

Expression for Heart Defects, Congenital, and Other Congenital Anomalies

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

Pathways for Heart Defects, Congenital, and Other Congenital Anomalies

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
Show member pathways
13.85 UGT2B7 UGT2B4 SLC10A2 SLC10A1 NR1H4 HDC
2
Show member pathways
12.96 UGT2B7 UGT2B4 NR1H4 CYP8B1 CYP7B1 CYP7A1
3
Show member pathways
12.1 SLC10A2 SLC10A1 NR1H4 FABP6 CYP8B1 CYP7B1
4
Show member pathways
11.74 UGT2B7 UGT2B4 ABCB11
5 11.5 FABP6 CYP8B1 CYP7A1
6
Show member pathways
11.5 UGT2B7 UGT2B4 CYP7B1 CYP7A1
7 11.28 UGT2B7 UGT2B4 SLC51B SLC51A SLC10A2 SLC10A1
8 11.17 NR1H4 CYP8B1 CYP7A1 ABCB11
9 10.94 CYP8B1 CYP7A1
10 10.86 SLC51B SLC51A SLC10A1 NR1H4 CYP7A1 ABCB11
11 10.78 UGT2B4 SLC10A1 NR1H4 NR0B2 CYP8B1 CYP7A1
12 10.64 UGT2B7 UGT2B4
13 10.36 UGT2B7 UGT2B4

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

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 9.93 UGT2B7 UGT2B4 SLC51B SLC51A SLC10A2 SLC10A1
2 endoplasmic reticulum membrane GO:0005789 9.43 UGT2B7 UGT2B4 SLC51A CYP8B1 CYP7B1 CYP7A1
3 organelle membrane GO:0031090 9.02 UGT2B7 UGT2B4 CYP8B1 CYP7B1 CYP7A1

Biological processes 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 transmembrane transport GO:0055085 9.91 SLC51B SLC51A SLC10A2 SLC10A1 ABCB11
2 lipid metabolic process GO:0006629 9.83 UGT2B7 NR1H4 FABP6 CYP7B1 CYP7A1
3 steroid metabolic process GO:0008202 9.7 UGT2B7 CYP7B1 CYP7A1
4 cholesterol homeostasis GO:0042632 9.65 NR1H4 CYP7B1 CYP7A1
5 cholesterol metabolic process GO:0008203 9.63 NR0B2 CYP7B1 CYP7A1
6 cellular glucuronidation GO:0052695 9.49 UGT2B7 UGT2B4
7 organic substance transport GO:0071702 9.4 SLC51B SLC51A
8 bile acid secretion GO:0032782 9.37 SLC51B SLC51A
9 sterol metabolic process GO:0016125 9.33 CYP8B1 CYP7B1 CYP7A1
10 cellular response to bile acid GO:1903413 9.32 NR1H4 GPBAR1
11 regulation of bile acid biosynthetic process GO:0070857 9.26 NR1H4 CYP7A1
12 bile acid biosynthetic process GO:0006699 9.26 CYP8B1 CYP7B1 CYP7A1 ABCB11
13 bile acid and bile salt transport GO:0015721 9.1 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 ABCB11

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.65 CYP8B1 CYP7B1 CYP7A1
2 iron ion binding GO:0005506 9.63 CYP8B1 CYP7B1 CYP7A1
3 monooxygenase activity GO:0004497 9.54 CYP8B1 CYP7B1 CYP7A1
4 glucuronosyltransferase activity GO:0015020 9.51 UGT2B7 UGT2B4
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.5 CYP8B1 CYP7B1 CYP7A1
6 retinoic acid binding GO:0001972 9.49 UGT2B7 UGT2B4
7 retinoid X receptor binding GO:0046965 9.43 NR1H4 NR0B2
8 UDP-glycosyltransferase activity GO:0008194 9.4 UGT2B7 UGT2B4
9 transporter activity GO:0005215 9.33 SLC51B SLC51A ABCB11
10 bile acid:sodium symporter activity GO:0008508 9.26 SLC10A2 SLC10A1
11 bile acid receptor activity GO:0038181 8.96 NR1H4 GPBAR1
12 bile acid transmembrane transporter activity GO:0015125 8.8 SLC51B SLC51A SLC10A1

Sources for Heart Defects, Congenital, and Other Congenital Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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