Details of Disease

Disease Name

Atrial septal defect

interatrial communication; interatrial septal defect; auricular septal defect; interauricular communication; congenital atrial septal defect; atrioseptal defect; atrial septum defect; interauricular septal defect; ASD; Atrial Septal Defects; atrial septal defect

Definition

Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.

Disease Hierarchy

DISMT2VZ: Cardiogenetic disease

DISQ5C5J: Heart septal defect

DISJT76B: Atrial septal defect

Disease Identifiers

MONDO ID

MONDO_0006664

MESH ID

D006344

UMLS CUI

C0018817

MedGen ID

6753

HPO ID

HP:0001631

Orphanet ID

1478

SNOMED CT ID

253366007

General Information of Disease (ID: DISJT76B)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 22 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DMPK	TTZQTY2	Limited	Genetic Variation	[1]
GABRQ	TTXDUR9	Limited	Biomarker	[2]
GRM7	TT0I76D	Limited	Genetic Variation	[3]
MYBPC3	TT9WOBN	Limited	Genetic Variation	[4]
OPRD1	TT27RFC	Limited	Biomarker	[5]
PCSK6	TT75LN9	Limited	Biomarker	[6]
PPP3CA	TTA4LDE	Limited	Genetic Variation	[7]
RTN4	TT7GXMU	Limited	Genetic Variation	[8]
SCN2A	TTLJTUF	Limited	Genetic Variation	[9]
CYP11B2	TT9MNE2	Disputed	Genetic Variation	[10]
SCN4A	TT84DRB	moderate	CausalMutation	[11]
ABL1	TT6B75U	Strong	CausalMutation	[12]
CCN1	TTPK79J	Strong	Genetic Variation	[7]
CDK13	TTRIM0E	Strong	Genetic Variation	[13]
COMT	TTKWFB8	Strong	Genetic Variation	[14]
HAAO	TTWON83	Strong	CausalMutation	[15]
KDM4C	TTV8CRH	Strong	Genetic Variation	[16]
MAP2K1	TTIDAPM	Strong	Biomarker	[17]
NODAL	TTK2O1Q	Strong	Genetic Variation	[18]
NTF3	TTZHKV9	Strong	Biomarker	[19]
PTPN11	TT7WUAV	Strong	Genetic Variation	[20]
TRIP12	TTG2CRH	Strong	Biomarker	[21]
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⏷ Show the Full List of 22 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ASNS	DEXISVQ	Strong	Genetic Variation	[22]
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This Disease Is Related to 55 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Limited	Biomarker	[23]
ACTC1	OTJU04B1	Limited	Genetic Variation	[24]
ADO	OTRLGQ7V	Limited	Biomarker	[25]
ARID4B	OTYLPILE	Limited	Biomarker	[26]
CDKL5	OTGL5HRV	Limited	Biomarker	[27]
CFC1	OT5DHGI8	Limited	Genetic Variation	[28]
CNTNAP3	OTIN65PT	Limited	Biomarker	[29]
DPYSL3	OTINJV20	Limited	Altered Expression	[30]
EBPL	OT59J1GY	Limited	Biomarker	[31]
EFNB1	OT7JJW8P	Limited	Genetic Variation	[32]
FOXL2	OTFRQUYL	Limited	Genetic Variation	[33]
HYDIN	OTY88F5F	Limited	Genetic Variation	[33]
INTU	OTXB13E6	Limited	Biomarker	[34]
ISL1	OTVNVKAX	Limited	Biomarker	[35]
KLRC2	OTT4N86S	Limited	Altered Expression	[36]
LBX2	OTGWRSI2	Limited	Genetic Variation	[37]
MSX2	OT1WDKE1	Limited	Biomarker	[38]
NEXN	OTKB0B0H	Limited	Genetic Variation	[39]
NKX2-5	OTS1SAWM	Limited	Genetic Variation	[40]
OSR1	OTB19LEQ	Limited	Biomarker	[41]
PCDHGA4	OTGFWKEF	Limited	Genetic Variation	[42]
PITX3	OTE2KT8P	Limited	Biomarker	[43]
PLAC8	OT3SYRUJ	Limited	Altered Expression	[44]
PSD	OTUZIXUZ	Limited	Biomarker	[45]
SHROOM3	OTQKC5X2	Limited	Altered Expression	[39]
SIL1	OTDI85I5	Limited	Biomarker	[46]
SLFN14	OTMB4Y3R	Limited	Genetic Variation	[42]
B3GLCT	OTXH6KOQ	moderate	Biomarker	[47]
ELMOD3	OTLBB4DJ	moderate	Biomarker	[48]
LGALS7	OTMSVI7R	moderate	Biomarker	[49]
NUFIP2	OTZBZ224	moderate	Biomarker	[49]
ACTA2	OTEDLG8E	Strong	Genetic Variation	[50]
ARSD	OTAHW9M8	Strong	Genetic Variation	[51]
BMPR1A	OTQOA4ZH	Strong	Genetic Variation	[52]
CNTNAP2	OT48T2ZP	Strong	Biomarker	[53]
EVC	OTRVYMXJ	Strong	Genetic Variation	[54]
FOXE3	OTAUDKC1	Strong	Genetic Variation	[55]
GATA6	OTO2BC0F	Strong	CausalMutation	[56]
HEY2	OTU4J3ZI	Strong	Genetic Variation	[57]
LRPAP1	OT6DVD2Q	Strong	Genetic Variation	[58]
LZTR1	OTIDM6XO	Strong	Genetic Variation	[59]
MSX1	OT5U41ZP	Strong	Biomarker	[60]
MYH6	OT3YNCH1	Strong	Genetic Variation	[33]
MYT1L	OTV45MAS	Strong	Biomarker	[21]
PQBP1	OTXCBEAH	Strong	Biomarker	[61]
SHANK2	OTSQTPFQ	Strong	Biomarker	[62]
SMS	OT8JYKNH	Strong	Biomarker	[63]
STX18	OTW4GF3X	Strong	Biomarker	[60]
SYN2	OTK0DEGH	Strong	Biomarker	[64]
SYTL4	OT7MX5IK	Strong	Genetic Variation	[65]
TBX20	OTMPU2XQ	Strong	Genetic Variation	[66]
TBX5	OT70PISV	Strong	Biomarker	[67]
TLL1	OTK9NM7G	Strong	Biomarker	[18]
TMEM87B	OTXT7BCU	Strong	Genetic Variation	[68]
TTN	OT0LZ058	Strong	Biomarker	[4]
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⏷ Show the Full List of 55 DOT(s)

References

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33	Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).Med Sci Monit. 2018 Mar 5;24:1340-1358. doi: 10.12659/msm.908923.
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