Abnormal cardiac septum morphology - Ontology Report

ORPHA:83473

NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079

ASXL1

ASXL transcriptional regulator 1

ORPHA:97297

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

B3GLCT

beta 3-glucosyltransferase

ORPHA:709

NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276

BAZ1B

bromodomain adjacent to zinc finger domain 1B

NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293

BCL6 corepressor

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

BRCA1

BRCA1 DNA repair associated

NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245

BRCA2

BRCA2 DNA repair associated

NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268

BRIP1

BRCA1 interacting DNA helicase 1

NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212

castor zinc finger 1

NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650

cyclin D2

NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353

cyclin Q

NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045

CDC42

cell division cycle 42

MIM:616737

NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360

chromodomain helicase DNA binding protein 7

ORPHA:138

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

CLIP2

CAP-Gly domain containing linker protein 2

NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935

COX7B

cytochrome c oxidase subunit 7B

ORPHA:2556

NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376

complexin 1

NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129

CTBP1

C-terminal binding protein 1

NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333

DACT1

dishevelled binding antagonist of beta catenin 1

ORPHA:857

NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321

DDX3X

DEAD-box helicase 3 X-linked

ORPHA:3338

NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472

DM1 protein kinase

NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453

euchromatic histone lysine methyltransferase 1

ORPHA:96147

NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016

EIF4H

eukaryotic translation initiation factor 4H

NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122

elastin

NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348

FANCA

FA complementation group A

NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977

FA complementation group B

NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255

FANCC

FA complementation group C

NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796

FANCD2

FA complementation group D2

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

FANCE

FA complementation group E

NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104

FANCF

FA complementation group F

NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823

FANCG

FA complementation group G

NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004

FA complementation group I

NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261

FANCL

FA complementation group L

NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410

FANCM

FA complementation group M

NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637

FLNA

filamin A

ORPHA:2484 ORPHA:90652 ORPHA:99811

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

GABRD

gamma-aminobutyric acid type A receptor subunit delta

NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758

GATA binding protein 4

ORPHA:251071

NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002

GTF2I

general transcription factor IIi

NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692

GTF2IRD1

GTF2I repeat domain containing 1

NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605

GTF2IRD2

GTF2I repeat domain containing 2

NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605

HCCS

holocytochrome c synthase

ORPHA:2556

NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086

HNRNPU

heterogeneous nuclear ribonucleoprotein U

ORPHA:238769

NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560

homeobox D13

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

HSPG2

heparan sulfate proteoglycan 2

NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310

KCNAB2

potassium voltage-gated channel subfamily A regulatory beta subunit 2

NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193

lysine demethylase 6A

ORPHA:2322

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

KIF7

kinesin family member 7

MIM:200990

NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086

lysine methyltransferase 2D

ORPHA:2322

NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156

LIM domain kinase 1

NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525

LUZP1

leucine zipper protein 1

NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152

MAD2L2

mitotic arrest deficient 2 like 2

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811

MCTP2

multiple C2 and transmembrane domain containing 2

ORPHA:1596

NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952

METTL27

methyltransferase like 27

NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516

MKS1

MKS transition zone complex subunit 1

MIM:249000

NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605

MMP21

matrix metallopeptidase 21

MIM:616749

NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821

MMP23B

matrix metallopeptidase 23B

NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263

MPL

MPL proto-oncogene, thrombopoietin receptor

ORPHA:3319

NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466

myosin heavy chain 7

NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660

MYMK

myomaker, myoblast fusion factor

MIM:254940

NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612

NCF1

neutrophil cytosolic factor 1

NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315

NDUFB11

NADH:ubiquinone oxidoreductase subunit B11

ORPHA:2556

NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466

NELFA

negative elongation factor complex member A

NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903

NK2 homeobox 1

NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149

NK2 homeobox 5

NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311

NSD2

nuclear receptor binding SET domain protein 2

NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207

NSDHL

NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

MIM:308050

NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729

phosphofurin acidic cluster sorting protein 1

MIM:615009

NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744

PALB2

partner and localizer of BRCA2

NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321

podoplanin

NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957

PIGG

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

ORPHA:2059

NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118

PIK3R2

phosphoinositide-3-kinase regulatory subunit 2

ORPHA:83473

NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540

RNA polymerase I subunit A

ORPHA:1200

NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155

PORCN

porcupine O-acyltransferase

ORPHA:2092

NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814

PR/SET domain 16

NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621

PRKCZ

protein kinase C zeta

NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395

RAD51 recombinase

NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340

RAD51 paralog C

NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611

RNA binding motif protein 8A

ORPHA:3320

NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678

RecQ like helicase 4

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

RERE

arginine-glutamic acid dipeptide repeats

NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921

RFC2

replication factor C subunit 2

NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458

RFWD3

ring finger and WD repeat domain 3

NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

ORPHA:175

NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017

R-spondin 2

NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642

SALL1

spalt like transcription factor 1

ORPHA:857

NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334

semaphorin 3E

NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139

SKI proto-oncogene

NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213

SLX4

SLX4 structure-specific endonuclease subunit

NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606

SMAD family member 4

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045

SPEN

spen family transcriptional repressor

NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456

syntaxin 1A

NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672

TBL2

transducin beta like 2

NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791

TBX4

T-box transcription factor 4

ORPHA:3301

NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110

thrombopoietin

NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968

TMEM270

transmembrane protein 270

NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890

thioredoxin like 4A

NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949

UBE2T

ubiquitin conjugating enzyme E2 T

NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984

UBE4B

ubiquitination factor E4B

NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239

UBR1

ubiquitin protein ligase E3 component n-recognin 1

ORPHA:2315

NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113

VPS37D

VPS37D subunit of ESCRT-I

NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112

Wnt family member 3

NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154

XRCC2

X-ray repair cross complementing 2

NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193

Abnormal atrial septum morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CYP27A1

cytochrome P450 family 27 subfamily A member 1

ORPHA:909

NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293

DVL1

dishevelled segment polarity protein 1

MIM:616331

NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418

Apical muscular ventricular septal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

STAG2

STAG2 cohesin complex component

MIM:301022

NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664

Atrial septal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCC8

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Atrial septal defect
ClinVar Annotator: match by term: Defect in the atrial septum

PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More...

NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894

ABCD4

ATP binding cassette subfamily D member 4

MIM:614857

NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

MIM:617602

NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675

ACADVL

acyl-CoA dehydrogenase very long chain

ORPHA:26793

NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266

ACTA2

actin alpha 2, smooth muscle

MIM:613834

NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339

ACTC1

actin alpha cardiac muscle 1

ClinVar Annotator: match by term: Atrial septum defect
ClinVar Annotator: match by term: Defect in the atrial septum

PMID:28492532

MIM:612098

NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589

ACTL6A

actin like 6A

ClinVar Annotator: match by term: Atrial septal defect

PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175

NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407

ADA2

adenosine deaminase 2

NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235

ADAT3

adenosine deaminase tRNA specific 3

ORPHA:363528

NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447

ADNP

activity dependent neuroprotector homeobox

MIM:615873

NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437

AFG2A

AFG2 AAA ATPase homolog A

ORPHA:457351

NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433

AGGF1

angiogenic factor with G-patch and FHA domains 1

ORPHA:90308

NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234

AGO2

argonaute RISC catalytic component 2

MIM:619149

NCBI chr 8:140,520,156...140,642,313
Ensembl chr 8:140,520,156...140,635,633

AHI1

Abelson helper integration site 1

MIM:608629

NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434

ALG9

ALG9 alpha-1,2-mannosyltransferase

MIM:608776 ORPHA:79328

NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581

AMER1

APC membrane recruitment protein 1

MIM:300373

NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708

ankyrin 1

NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741

APC2

APC regulator of WNT signaling pathway 2

ORPHA:821

NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244

ARHGAP31

Rho GTPase activating protein 31

MIM:100300

NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714

ARID1A

AT-rich interaction domain 1A

NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104

ARID1B

AT-rich interaction domain 1B

MIM:135900 ORPHA:1465

NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779

ARID2

AT-rich interaction domain 2

MIM:617808 ORPHA:1465

NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040

arylsulfatase L

NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475

ARVCF

ARVCF delta catenin family member

NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823

ASXL1

ASXL transcriptional regulator 1

MIM:605039

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

ASXL2

ASXL transcriptional regulator 2

MIM:617190

NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487

atrophin 1

NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321

ATP6V1A

ATPase H+ transporting V1 subunit A

MIM:617403

NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056

ATP6V1E1

ATPase H+ transporting V1 subunit E1

MIM:617402

NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749

AUTS2

activator of transcription and developmental regulator AUTS2

ORPHA:352490

NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506

axin 1

NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723

B3GALT6

beta-1,3-galactosyltransferase 6

MIM:271640

NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041

B3GAT3

beta-1,3-glucuronyltransferase 3

NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154

B3GLCT

beta 3-glucosyltransferase

MIM:261540

NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276

BAZ1B

bromodomain adjacent to zinc finger domain 1B

NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293

BBS2

Bardet-Biedl syndrome 2

MIM:615981

NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667

BCL6 corepressor

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

BCR

BCR activator of RhoGEF and GTPase

NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037

BMP2

bone morphogenetic protein 2

ORPHA:261295

NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246

BMPR1A

bone morphogenetic protein receptor type 1A

ORPHA:79076

NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825

BRAF

B-Raf proto-oncogene, serine/threonine kinase

MIM:115150 MIM:163950 MIM:613706 ORPHA:1340

NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929

BRCA1

BRCA1 DNA repair associated

NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245

BRCA2

BRCA2 DNA repair associated

NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268

BRD4

bromodomain containing 4

NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545

BRIP1

BRCA1 interacting DNA helicase 1

NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559

BUB1

BUB1 mitotic checkpoint serine/threonine kinase

ORPHA:1052

NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

MIM:257300 ORPHA:1052

NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123

BUB3

BUB3 mitotic checkpoint protein

ORPHA:1052

NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212

C2CD3

C2 domain containing 3 centriole elongation regulator

MIM:615948

NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210

CARS1

cysteinyl-tRNA synthetase 1

MIM:618891

NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613

Cbl proto-oncogene

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

CCBE1

collagen and calcium binding EGF domains 1

MIM:235510

NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662

CCDC22

coiled-coil domain containing 22

MIM:300963 ORPHA:7

NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520

cyclin Q

NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045

CDC45

cell division cycle 45

MIM:617063

NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612

CDK10

cyclin dependent kinase 10

MIM:617694

NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354

CDK13

cyclin dependent kinase 13

MIM:617360

NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580

CEP290

centrosomal protein 290

MIM:611134

NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099

CEP57

centrosomal protein 57

MIM:614114 ORPHA:1052

NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693

CHD3

chromodomain helicase DNA binding protein 3

MIM:618205

NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760

CHD4

chromodomain helicase DNA binding protein 4

MIM:617159

NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524

chromodomain helicase DNA binding protein 7

ClinVar Annotator: match by term: Atrial septal defect

MIM:214800

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

CHRM3

cholinergic receptor muscarinic 3

ORPHA:2970

NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452

CHST14

carbohydrate sulfotransferase 14

MIM:601776

NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158

CHST3

carbohydrate sulfotransferase 3

NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558

ciliated left-right organizer metallopeptidase

NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989

CITED2

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

MIM:614433

NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648

CLCN3

chloride voltage-gated channel 3

MIM:619512

NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673

CLIP2

CAP-Gly domain containing linker protein 2

NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935

COG6

component of oligomeric golgi complex 6

MIM:614576

NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666

COL1A1

collagen type I alpha 1 chain

MIM:619115

NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632

COL1A2

collagen type I alpha 2 chain

ORPHA:230851

NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227

COL5A2

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Atrial septal defect

NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312

COMT

catechol-O-methyltransferase

NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975

COX7B

cytochrome c oxidase subunit 7B

MIM:300887 MIM:309801

NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376

carboxypeptidase E

NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547

complexin 1

NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129

CREBBP

CREB binding protein

ClinVar Annotator: match by term: Defect in the atrial septum

PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392

MIM:180849 ORPHA:353277 ORPHA:353281

NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713

CRKL

CRK like proto-oncogene, adaptor protein

NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747

CSGALNACT1

chondroitin sulfate N-acetylgalactosaminyltransferase 1

MIM:618870

NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029

CTBP1

C-terminal binding protein 1

MIM:194190 ORPHA:280

NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333

CTCF

CCCTC-binding factor

MIM:615502 ORPHA:363611

NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177

CTU2

cytosolic thiouridylase subunit 2

MIM:618142

NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396

cullin 3

NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397

cut like homeobox 1

NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958

DACT1

dishevelled binding antagonist of beta catenin 1

ORPHA:857

NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321

dynein assembly factor with WD repeats 1

NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344

DBR1

debranching RNA lariats 1

MIM:620510

NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949

DCPS

decapping enzyme, scavenger

MIM:616459

NCBI chr11:126,304,060...126,350,005
Ensembl chr11:126,304,060...126,350,005

DEF6

DEF6 guanine nucleotide exchange factor

MIM:619573

NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771

DHCR7

7-dehydrocholesterol reductase

MIM:270400 ORPHA:818

NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868

DLG5

discs large MAGUK scaffold protein 5

MIM:620703

NCBI chr10:77,790,791...77,940,736
Ensembl chr10:77,790,791...77,926,755

DLK1

delta like non-canonical Notch ligand 1

ORPHA:96334

NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224

DMD

dystrophin

ClinVar Annotator: match by term: Atrial septum defect

NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609

DNAJC19

DnaJ heat shock protein family (Hsp40) member C19

MIM:610198

NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453

DNMT3A

DNA methyltransferase 3 alpha

MIM:615879 ORPHA:404443

NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590

deoxyhypusine hydroxylase

NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674

double PHD fingers 2

NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262

DPH1

diphthamide biosynthesis 1

ORPHA:459061

NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898

DPH2

diphthamide biosynthesis 2

ORPHA:459061

NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369

DPH5

diphthamide biosynthesis 5

MIM:620070

NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088

DPYSL5

dihydropyrimidinase like 5

NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010

EBF3

EBF transcription factor 3

ORPHA:96148

NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053

ECE1

endothelin converting enzyme 1

MIM:613870

NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572

EFTUD2

elongation factor Tu GTP binding domain containing 2

MIM:610536 ORPHA:79113

NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445

euchromatic histone lysine methyltransferase 1

NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016

EIF2AK3

eukaryotic translation initiation factor 2 alpha kinase 3

ORPHA:1667

NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518

EIF4H

eukaryotic translation initiation factor 4H

NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122

elastin

NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907

EOGT

EGF domain specific O-linked N-acetylglucosamine transferase

MIM:615297

NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684

E1A binding protein p300

MIM:180849 ORPHA:353284

NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077

EPG5

ectopic P-granules 5 autophagy tethering factor

MIM:242840

NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329

EPH receptor B4

NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348

ERF

ETS2 repressor factor

ClinVar Annotator: match by term: Atrial septal defect

NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128

ERI1

exoribonuclease 1

MIM:620662 MIM:620663

NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

MIM:268300

NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640

EVC

EvC ciliary complex subunit 1

MIM:225500 ORPHA:289

NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305

EVC2

EvC ciliary complex subunit 2

MIM:225500 ORPHA:289

NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548

EXT2

exostosin glycosyltransferase 2

ORPHA:466926

NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962

FANCA

FA complementation group A

NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977

FA complementation group B

NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255

FANCC

FA complementation group C

NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796

FANCD2

FA complementation group D2

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

FANCE

FA complementation group E

NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104

FANCF

FA complementation group F

MIM:603467 ORPHA:84

NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823

FANCG

FA complementation group G

NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004

FA complementation group I

MIM:609053 ORPHA:84

NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261

FANCL

FA complementation group L

NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410

FANCM

FA complementation group M

NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890

fibrillin 2

NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185

FBXL4

F-box and leucine rich repeat protein 4

MIM:615471

NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006

F-box protein 11

NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498

FGF13

fibroblast growth factor 13

MIM:301058

NCBI chr X:138,614,727...139,205,023
Ensembl chr X:138,614,727...139,222,777

FGFR1

fibroblast growth factor receptor 1

MIM:613001

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

FGFR2

fibroblast growth factor receptor 2

MIM:207410

NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458

FGFR3

fibroblast growth factor receptor 3

ORPHA:1860 ORPHA:93274

NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872

FGFRL1

fibroblast growth factor receptor like 1

NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898

FIG4

FIG4 phosphoinositide 5-phosphatase

ORPHA:3472

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637

fukutin

NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820

folliculin

NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188

filamin A

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

filamin B

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

focadhesin

NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955

forkhead box C1

NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897

FOXF1

forkhead box F1

MIM:265380 ORPHA:210122

NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422

forkhead box P2

NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772

FRMD5

FERM domain containing 5

MIM:620094

NCBI chr15:43,870,764...44,199,473
Ensembl chr15:43,870,761...44,195,271

FTCD

formimidoyltransferase cyclodeaminase

ORPHA:51208

NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579

fucosyltransferase 8

NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121

GATA1

GATA binding protein 1

NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311

GATA binding protein 4

ClinVar Annotator: match by term: Defect in the atrial septum

PMID:25741868 PMID:28492532 PMID:30755392

MIM:607941 MIM:614429

NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002

GATA5

GATA binding protein 5

MIM:617912

NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995

GATA binding protein 6

MIM:600001 ORPHA:2255

NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528

growth differentiation factor 1

MIM:208530

NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158

GJA1

gap junction protein alpha 1

MIM:164200 ORPHA:2248

NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727

GJA5

gap junction protein alpha 5

NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362

GJA8

gap junction protein alpha 8

NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269

GJD2-DT

GJD2 divergent transcript

ClinVar Annotator: match by term: Atrial septum defect
ClinVar Annotator: match by term: Defect in the atrial septum

PMID:28492532

NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,062...34,813,505

GLI1

GLI family zinc finger 1

NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268

GLI3

GLI family zinc finger 3

MIM:175700 ORPHA:672

NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100

GP1BB

glycoprotein Ib platelet subunit beta

NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771

glypican 3

NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100

glypican 4

NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489

glypican 6

NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020

GPX4

glutathione peroxidase 4

MIM:250220

NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791

GTF2I

general transcription factor IIi

NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692

GTF2IRD1

GTF2I repeat domain containing 1

NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605

GTF2IRD2

GTF2I repeat domain containing 2

NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605

H3.3 histone A

NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019

H3.3 histone B

NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893

HAAO

3-hydroxyanthranilate 3,4-dioxygenase

MIM:617660

NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593

HACD1

3-hydroxyacyl-CoA dehydratase 1

MIM:619967

NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374

HCCS

holocytochrome c synthase

NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086

HDAC8

histone deacetylase 8

ClinVar Annotator: match by term: Atrial septal defect

NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101

HEATR3

HEAT repeat containing 3

NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272

HIRA

histone cell cycle regulator

NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450

HNRNPH2

heterogeneous nuclear ribonucleoprotein H2

MIM:300986

NCBI chr X:101,408,222...101,414,133
Ensembl chr X:101,408,222...101,414,133

HNRNPK

heterogeneous nuclear ribonucleoprotein K

ORPHA:352665 ORPHA:453504

NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631

HRAS

HRas proto-oncogene, GTPase

MIM:218040

NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321

HSPA9

heat shock protein family A (Hsp70) member 9

MIM:616854

NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675

IFT172

intraflagellar transport 172

MIM:619471

NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805

IFT27

intraflagellar transport 27

MIM:615996

NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256

IGF1R

insulin like growth factor 1 receptor

MIM:270450

NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530

insulin receptor

NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414

importin 8

NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869

iroquois homeobox 5

NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485

ITPR1

inositol 1,4,5-trisphosphate receptor type 1

MIM:117360

NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506

JAG1

jagged canonical Notch ligand 1

MIM:118450

NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999

JMJD1C

jumonji domain containing 1C

NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850

KANSL1

KAT8 regulatory NSL complex subunit 1

MIM:610443 ORPHA:363958 ORPHA:363965

NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389

KAT6A

lysine acetyltransferase 6A

MIM:616268 ORPHA:457193

NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994

KAT6B

lysine acetyltransferase 6B

MIM:606170 ORPHA:3047 ORPHA:85201

NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624

KAT8

lysine acetyltransferase 8

MIM:618974

NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393

KATNB1

katanin regulatory subunit B1

NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244

KCNH1

potassium voltage-gated channel subfamily H member 1

MIM:611816

NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165

KDM5A

lysine demethylase 5A

MIM:620820

NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320

KDM5B

lysine demethylase 5B

MIM:618109

NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487

lysine demethylase 6A

MIM:147920 MIM:300867 ORPHA:2322

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297

KIF11

kinesin family member 11

ORPHA:2526

NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395

KIF15

kinesin family member 15

ORPHA:261323

NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376

KMT2A

lysine methyltransferase 2A

MIM:605130

NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832

lysine methyltransferase 2D

MIM:147920 MIM:620186 ORPHA:2322

NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794

KRAS

KRAS proto-oncogene, GTPase

MIM:600268 MIM:609942 ORPHA:1340 ORPHA:648

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

LAMA5

laminin subunit alpha 5

MIM:620076

NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312

LARP7

La ribonucleoprotein 7, transcriptional regulator

ORPHA:319671

NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

MIM:194190 ORPHA:280

NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156

LIM domain kinase 1

NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525

LMBRD1

LMBR1 domain containing 1

MIM:277380

NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236

lamin A/C

NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081

LOC114827851

VISTA enhancer hs2155

ClinVar Annotator: match by term: Defect in the atrial septum

PMID:25741868 PMID:28416588 PMID:28492532

NCBI chr14:23,404,568...23,409,443

lon peptidase 1, mitochondrial

MIM:600373

NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572

leucine zipper like post translational regulator 1

MIM:605275 MIM:616564 ORPHA:648

NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032

MAD2L2

mitotic arrest deficient 2 like 2

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811

MAGEL2

MAGE family member L2

ORPHA:398069

NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867

MAP2K1

mitogen-activated protein kinase kinase 1

MIM:163950 MIM:615279 ORPHA:1340

NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656

MAP2K2

mitogen-activated protein kinase kinase 2

ORPHA:1340

NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122

mitogen-activated protein kinase kinase kinase 7

MIM:157800

NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086

MAPK1

mitogen-activated protein kinase 1

MIM:619087 ORPHA:261330

NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680

MAPKAPK5

MAPK activated protein kinase 5

MIM:619869

NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222

MASP1

MBL associated serine protease 1

MIM:257920

NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980

MAX

MYC associated factor X

MIM:620712

NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695

MBTPS2

membrane bound transcription factor peptidase, site 2

MIM:308205

NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423

MED11

mediator complex subunit 11

MIM:620327

NCBI chr17:4,731,428...4,733,607
Ensembl chr17:4,731,428...4,733,608

MED12

mediator complex subunit 12

MIM:301068 MIM:309520 ORPHA:2728 ORPHA:776 ORPHA:93932

NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103

MED23

mediator complex subunit 23

MIM:614249

NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242

MED25

mediator complex subunit 25

MIM:616449 ORPHA:464738

NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383

MEG3

maternally expressed 3

ORPHA:96334

NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031

MEGF8

multiple EGF like domains 8

MIM:614976

NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769

MEIS2

Meis homeobox 2

MIM:600987 ORPHA:261190

NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299

METTL27

methyltransferase like 27

NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516

midline 1

NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654

MKKS

MKKS centrosomal shuttling protein

ORPHA:2473

NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222

MLXIPL

MLX interacting protein like

MIM:194050

NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543

MMP14

matrix metallopeptidase 14

NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041

MMP2

matrix metallopeptidase 2

NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691

MMP21

matrix metallopeptidase 21

MIM:616749

NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821

MN1

MN1 proto-oncogene, transcriptional regulator

ClinVar Annotator: match by term: Atrial septum defect

PMID:25741868 PMID:31834374

NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756

MOGS

mannosyl-oligosaccharide glucosidase

ORPHA:79330

NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410

MPDZ

multiple PDZ domain crumbs cell polarity complex component

MIM:615219

NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692

MRAS

muscle RAS oncogene homolog

MIM:618499 ORPHA:648

NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534

MYH6

myosin heavy chain 6

ClinVar Annotator: match by term: Atrial septum defect
ClinVar Annotator: match by term: Defect in the atrial septum

PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532 More...

NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273

MYH7

myosin heavy chain 7

ClinVar Annotator: match by term: Defect in the atrial septum

ORPHA:1880

NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660

MYLK

myosin light chain kinase

ClinVar Annotator: match by term: Defect in the atrial septum

PMID:21055718 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29543232 More...

NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332

myocardin

NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949

MYRF

myelin regulatory factor

MIM:618280

NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518

N-alpha-acetyltransferase 10, NatA catalytic subunit

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NCF1

neutrophil cytosolic factor 1

NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315

NDE1

nudE neurodevelopment protein 1

NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691

NDUFB11

NADH:ubiquinone oxidoreductase subunit B11

NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466

NDUFB7

NADH:ubiquinone oxidoreductase subunit B7

MIM:620135

NCBI chr19:14,566,078...14,572,066
Ensembl chr19:14,566,078...14,572,066

NEK1

NIMA related kinase 1

MIM:263520

NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632

NEK9

NIMA related kinase 9

MIM:614262

NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344

NELFA

negative elongation factor complex member A

NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903

NF1

neurofibromin 1

MIM:162200 ORPHA:363700

NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116

NFE2L2

NFE2 like bZIP transcription factor 2

MIM:617744

NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756

nuclear factor I X

NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796

NIPA1

NIPA magnesium transporter 1

NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789

NIPA2

NIPA magnesium transporter 2

NCBI chr15:22,838,666...22,868,384
Ensembl chr15:22,838,644...22,869,362

NIPBL

NIPBL cohesin loading factor

MIM:122470 ORPHA:199

NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413

NKAP

NFKB activating protein

MIM:301039

NCBI chr X:119,920,672...119,943,751
Ensembl chr X:119,920,672...119,943,751

NKX2-1

NK2 homeobox 1

MIM:610978 ORPHA:209905

NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149

NKX2-5

NK2 homeobox 5

ClinVar Annotator: match by term: Atrial septum defect
ClinVar Annotator: match by term: Defect in the atrial septum

PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More...

MIM:614432 ORPHA:2248

NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311

NK2 homeobox 6

NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756

NODAL

nodal growth differentiation factor

MIM:270100

NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951

NONO

non-POU domain containing octamer binding

MIM:300967 ORPHA:466791, RGD:155882461

DNA:nonsense mutation, frameshift mutation, deletion:CDS, exons:p.R365*, p.N466Kfs*13,

HPO
RGD

PMID:27550220

NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522

notch receptor 2

NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779

NPHP3

nephrocystin 3

MIM:208540 MIM:267010

NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432

NRAS

NRAS proto-oncogene, GTPase

MIM:613224 ORPHA:648

NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771

nuclear receptor binding SET domain protein 1

MIM:117550 ORPHA:821

NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213

NSD2

nuclear receptor binding SET domain protein 2

MIM:194190 ORPHA:280

NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207

nucleoredoxin

NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776

OTUD6B

OTU deubiquitinase 6B

MIM:617452 ORPHA:505237

NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095

phosphofurin acidic cluster sorting protein 1

ORPHA:329224

NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744

PACS2

phosphofurin acidic cluster sorting protein 2

MIM:618067

NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147

PALB2

partner and localizer of BRCA2

MIM:610832 ORPHA:84

NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321

paired box 3

NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998

PCGF2

polycomb group ring finger 2

MIM:618371

NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817

pericentrin

NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769

PEX19

peroxisomal biogenesis factor 19

MIM:614886

NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348

PEX2

peroxisomal biogenesis factor 2

MIM:614866

NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044

PGAP2

post-GPI attachment to proteins 2

MIM:614207

NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371

PIEZO1

piezo type mechanosensitive ion channel component 1 (Er blood group)

MIM:616843

NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

MIM:300868

NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554

PIGF

phosphatidylinositol glycan anchor biosynthesis class F

MIM:619356

NCBI chr 2:46,580,937...46,617,041
Ensembl chr 2:46,580,937...46,617,055

PIGG

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

MIM:614080 ORPHA:280633

NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118

PIGO

phosphatidylinositol glycan anchor biosynthesis class O

MIM:614749

NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619

PIGT

phosphatidylinositol glycan anchor biosynthesis class T

ORPHA:369837

NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ORPHA:90308

NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093

PIK3R2

phosphoinositide-3-kinase regulatory subunit 2

MIM:603387

NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540

phospholipase D1

NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950

plexin D1

NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676

POGZ

pogo transposable element derived with ZNF domain

MIM:616364

NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494

POLA1

DNA polymerase alpha 1, catalytic subunit

MIM:301030

NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986

POR

cytochrome p450 oxidoreductase

MIM:207410

NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855

PPFIBP1

PPFIA binding protein 1

MIM:620024

NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564

PPP1CB

protein phosphatase 1 catalytic subunit beta

MIM:617506

NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940

PPP1R21

protein phosphatase 1 regulatory subunit 21

MIM:619383

NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391

PPP2CA

protein phosphatase 2 catalytic subunit alpha

MIM:618354

NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,193,978...134,226,073

PPP2R5D

protein phosphatase 2 regulatory subunit B'delta

ORPHA:457279

NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342

PQBP1

polyglutamine binding protein 1

MIM:309500 ORPHA:93946 ORPHA:93947

NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402

PRIM1

DNA primase subunit 1

MIM:620005

NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374

protein kinase cAMP-activated catalytic subunit alpha

NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084

PRKACB

protein kinase cAMP-activated catalytic subunit beta

NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498

PSMD12

proteasome 26S subunit, non-ATPase 12

MIM:617516

NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605

PTEN

phosphatase and tensin homolog

ORPHA:79076

NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930

protein tyrosine phosphatase non-receptor type 11

MIM:163950 ORPHA:648

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

RAB23

RAB23, member RAS oncogene family

MIM:201000

NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307

RAD21

RAD21 cohesin complex component

NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776

RAD51 recombinase

NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340

RAD51 paralog C

NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

MIM:611553 ORPHA:648

NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201

RAI1

retinoic acid induced 1

ORPHA:477817

NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453

RASA2

RAS p21 protein activator 2

ORPHA:648

NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344

RBM10

RNA binding motif protein 10

MIM:311900 ORPHA:2886

NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813

RNA binding motif protein 8A

MIM:274000

NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678

reelin

NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658

RFC2

replication factor C subunit 2

NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458

RFWD3

ring finger and WD repeat domain 3

NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877

RIT1

Ras like without CAAX 1

MIM:615355 ORPHA:648

NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404

RNA, U4atac small nuclear

MIM:210710

NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007

ROBO4

roundabout guidance receptor 4

MIM:618496

NCBI chr11:124,883,691...124,897,865
Ensembl chr11:124,883,691...124,898,500

ROR2

receptor tyrosine kinase like orphan receptor 2

ORPHA:1507

NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228

RPL10

ribosomal protein L10

MIM:300998 ORPHA:459070

NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168

RPL11

ribosomal protein L11

NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835

RPL15

ribosomal protein L15

NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374

RPL18

ribosomal protein L18

NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184

RPL26

ribosomal protein L26

NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213

RPL27

ribosomal protein L27

MIM:617408 ORPHA:124

NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959

RPL31

ribosomal protein L31

NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032

RPL35

ribosomal protein L35

NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981

RPL35A

ribosomal protein L35a

NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610

ribosomal protein L5

NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924

ribosomal protein L8

NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587

ribosomal protein L9

NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931

RPS10

ribosomal protein S10

NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069

RPS15A

ribosomal protein S15a

NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383

RPS17

ribosomal protein S17

MIM:612527 ORPHA:124

NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459

RPS19

ribosomal protein S19

MIM:105650 ORPHA:124

NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925

RPS20

ribosomal protein S20

NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510

RPS24

ribosomal protein S24

NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813

RPS26

ribosomal protein S26

NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697

RPS27

ribosomal protein S27

NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155

RPS28

ribosomal protein S28

NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340

RPS29

ribosomal protein S29

NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164

ribosomal protein S7

NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920

RAS related

NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143

RAS related 2

NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506

RREB1

ras responsive element binding protein 1

NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980

RTL1

retrotransposon Gag like 1

ORPHA:96334

NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722

RYR1

ryanodine receptor 1

ClinVar Annotator: match by term: Defect in the atrial septum

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273

SALL1

spalt like transcription factor 1

MIM:107480 ORPHA:857

NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334

SALL4

spalt like transcription factor 4

MIM:607323

NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521

SCUBE3

signal peptide, CUB domain and EGF like domain containing 3

MIM:619184

NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079

SEC24C

SEC24 homolog C, COPII coat complex component

NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161

SETBP1

SET binding protein 1

ClinVar Annotator: match by term: Atrial septal defect

MIM:269150

NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510

SH2B1

SH2B adaptor protein 1

ORPHA:261197

NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212

SH3 and PX domains 2B

NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525

SHOC2

SHOC2 leucine rich repeat scaffold protein

MIM:607721

NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307

SIAH1

siah E3 ubiquitin protein ligase 1

MIM:619314

NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402

SIK family kinase 3

NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437

SKIC2

SKI2 subunit of superkiller complex

ORPHA:84064

NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818

SKIC3

SKI3 subunit of superkiller complex

ORPHA:84064

NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050

SLC19A2

solute carrier family 19 member 2

MIM:249270 ORPHA:49827

NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944

SLC25A24

solute carrier family 25 member 24

MIM:612289

NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849

SLC25A36

solute carrier family 25 member 36

MIM:620211

NCBI chr 3:140,941,836...140,980,995
Ensembl chr 3:140,941,830...140,980,995

SLC29A3

solute carrier family 29 member 3

MIM:602782

NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423

SLC35A2

solute carrier family 35 member A2

MIM:300896

NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958

SLC38A3

solute carrier family 38 member 3

MIM:619881

NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486

SLF2

SMC5-SMC6 complex localization factor 2

MIM:620184

NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134

SLX4

SLX4 structure-specific endonuclease subunit

NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606

SMAD family member 2

NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146

SMAD family member 3

NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173

SMAD family member 4

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045

SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: Defect in the atrial septum

MIM:614609 ORPHA:1465

NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426

SMARCB1

SWI/SNF related BAF chromatin remodeling complex subunit B1

NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009

SMARCC2

SWI/SNF related BAF chromatin remodeling complex subunit C2

NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567

SMARCD1

SWI/SNF related BAF chromatin remodeling complex subunit D1

NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707

SMARCE1

SWI/SNF related BAF chromatin remodeling complex subunit E1

MIM:616938 ORPHA:1465

NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654

SMC1A

structural maintenance of chromosomes 1A

MIM:301044 ORPHA:199

NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728

SMC3

structural maintenance of chromosomes 3

MIM:610759 ORPHA:199

NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048

SMG8

SMG8 nonsense mediated mRNA decay factor

MIM:619268

NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239

SMN1

survival of motor neuron 1, telomeric

MIM:253300

NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942

SNRPB

small nuclear ribonucleoprotein polypeptides B and B1

MIM:117650

NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853

sorting nexin 14

NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156

SON

SON DNA and RNA binding protein

MIM:617140 ORPHA:500150

NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

MIM:610733 ORPHA:648, RGD:11063543

associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple

HPO
RGD

PMID:17143285

NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345

SOS2

SOS Ras/Rho guanine nucleotide exchange factor 2

ORPHA:648

NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578

SOX11

SRY-box transcription factor 11

NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385

SOX4

SRY-box transcription factor 4

NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619

SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like

MIM:145420 ORPHA:1519

NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739

SPRED2

sprouty related EVH1 domain containing 2

ORPHA:648

NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637

SRCAP

Snf2 related CREBBP activator protein

MIM:136140 ORPHA:2044

NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409

STAM binding protein

NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659

STRA6

signaling receptor and transporter of retinol STRA6

MIM:601186

NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267

STRADA

STE20 related adaptor alpha

MIM:611087 ORPHA:500533

NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986

syntaxin 1A

NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672

synaptotagmin 1

NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008

SZT2

SZT2 subunit of KICSTOR complex

MIM:615476

NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247

TAF6

TATA-box binding protein associated factor 6

NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841

TALDO1

transaldolase 1

MIM:606003 ORPHA:101028

NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012

taspase 1

NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932

TBC1D24

TBC1 domain family member 24

MIM:220500

NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671

TBL2

transducin beta like 2

NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791

TBX1

T-box transcription factor 1

ORPHA:3384 ORPHA:567

NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593

TBX2

T-box transcription factor 2

MIM:618223

NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466

TBX20

T-box transcription factor 20

susceptibility

MIM:611363, RGD:155882600

DNA:SNPs, haplotype: (rs17675131, rs4720169) (human)

HPO
RGD

PMID:26675025

NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100

TBX22

T-box transcription factor 22

ORPHA:921

NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774

TBX4

T-box transcription factor 4

ORPHA:261279

NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110

T-box transcription factor 5

MIM:142900 ORPHA:392

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

TGDS

TDP-glucose 4,6-dehydratase

ORPHA:1388

NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242

TGFB3

transforming growth factor beta 3

MIM:615582

NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011

TGFBR1

transforming growth factor beta receptor 1

MIM:609192

NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192

TGFBR2

transforming growth factor beta receptor 2

MIM:610168

NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249

THO complex subunit 6

ORPHA:363444

NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755

THSD1

thrombospondin type 1 domain containing 1

MIM:620244

NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373

TKT

transketolase

MIM:617044 ORPHA:488618

NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052

tolloid like 1

NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457

TMCO1

transmembrane and coiled-coil domains 1

MIM:213980

NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755

TMEM147

transmembrane protein 147

MIM:620075

NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526

TMEM260

transmembrane protein 260

MIM:617478

NCBI chr14:56,579,525...56,663,165
Ensembl chr14:56,488,354...56,650,606

TMEM270

transmembrane protein 270

NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890

TMEM94

transmembrane protein 94

MIM:618316

NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452

TRAF7

TNF receptor associated factor 7

MIM:618164

NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129

TRAIP

TRAF interacting protein

MIM:616777

NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574

TRIO

trio Rho guanine nucleotide exchange factor

MIM:617061

NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128

TRIP13

thyroid hormone receptor interactor 13

ORPHA:1052

NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357

TSR2

TSR2 ribosome maturation factor

NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032

tubulin gamma 1

NCBI chr17:42,609,683...42,615,238
Ensembl chr17:42,609,641...42,615,238

thioredoxin like 4A

NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949

UBE2T

ubiquitin conjugating enzyme E2 T

NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984

UBE3B

ubiquitin protein ligase E3B

MIM:244450

NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705

UBR1

ubiquitin protein ligase E3 component n-recognin 1

MIM:243800

NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113

UBR7

ubiquitin protein ligase E3 component n-recognin 7

MIM:619189

NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215

UFD1

ubiquitin recognition factor in ER associated degradation 1

NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202

UMPS

uridine monophosphate synthetase

MIM:258900

NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273

UPF3B

UPF3B regulator of nonsense mediated mRNA decay

ORPHA:776

NCBI chr X:119,805,311...119,852,963
Ensembl chr X:119,834,022...119,852,998

UQCRC2

ubiquinol-cytochrome c reductase core protein 2

MIM:615160

NCBI chr16:21,953,361...21,983,660
Ensembl chr16:21,953,288...21,983,660

USP9X

ubiquitin specific peptidase 9 X-linked

MIM:300968 ORPHA:480880

NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579

VAC14

VAC14 component of PIKFYVE complex

ORPHA:3472

NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160

VEZF1

vascular endothelial zinc finger 1

MIM:620247

NCBI chr17:57,971,552...57,988,254
Ensembl chr17:57,971,547...57,988,259

VPS33A

VPS33A core subunit of CORVET and HOPS complexes

MIM:617303 ORPHA:505248

NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502

VPS33B

VPS33B late endosome and lysosome associated

MIM:208085

NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603

VPS35L

VPS35 endosomal protein sorting factor like

NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793

VPS37D

VPS37D subunit of ESCRT-I

NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112

WASHC5

WASH complex subunit 5

MIM:220210 ORPHA:7

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

WBP4

WW domain binding protein 4

MIM:620852

NCBI chr13:41,061,509...41,084,006
Ensembl chr13:41,061,509...41,084,006

WD repeat domain 35

NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105

WD repeat domain 37

NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991

WT1

WT1 transcription factor

MIM:608978 ORPHA:3097

NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564

XRCC2

X-ray repair cross complementing 2

NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193

xylosyltransferase 2

NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138

ZBTB7A

zinc finger and BTB domain containing 7A

MIM:619769

NCBI chr19:4,043,303...4,066,899
Ensembl chr19:4,043,303...4,066,899

ZDHHC9

zinc finger DHHC-type palmitoyltransferase 9

ORPHA:776

NCBI chr X:129,803,288...129,843,886
Ensembl chr X:129,803,288...129,843,909

ZEB2

zinc finger E-box binding homeobox 2

MIM:235730

NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057

ZFX

zinc finger protein X-linked

MIM:301118

NCBI chr X:24,148,982...24,216,255
Ensembl chr X:24,149,173...24,216,255

Zic family member 3

NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691

ZMPSTE24

zinc metallopeptidase STE24

MIM:275210 ORPHA:1662

NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180

ZMYM2

zinc finger MYM-type containing 2

MIM:619522

NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829

ZNF341

zinc finger protein 341

MIM:618282

NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269

ZNF699

zinc finger protein 699

MIM:619488

NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838

Atrial septal dilatation

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP6V0A2

ATPase H+ transporting V0 subunit a2

MIM:278250 ORPHA:2834

NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755

COG1

component of oligomeric golgi complex 1

ORPHA:263508

NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507

T-box transcription factor 5

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

Atrioventricular canal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACVR2B

activin A receptor type 2B

MIM:613751

NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142

BRAF

B-Raf proto-oncogene, serine/threonine kinase

ORPHA:500

NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929

BRD4

bromodomain containing 4

MIM:620568

NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545

CCDC22

coiled-coil domain containing 22

NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520

CCDC32

coiled-coil domain containing 32

MIM:619123

NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054

cadherin 2

NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946

CFC1

cryptic, EGF-CFC family member 1

MIM:605376

NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575

chromodomain helicase DNA binding protein 7

RGD

PMID:23677905

RGD:11535046

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

DEF6

DEF6 guanine nucleotide exchange factor

MIM:619573

NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771

DHCR7

7-dehydrocholesterol reductase

ORPHA:818

NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868

DNAH9

dynein axonemal heavy chain 9

MIM:618300

NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748

DPYSL5

dihydropyrimidinase like 5

NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

MIM:617088 ORPHA:289

NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010

euchromatic histone lysine methyltransferase 1

NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016

EVC

EvC ciliary complex subunit 1

NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305

EVC2

EvC ciliary complex subunit 2

NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548

FA complementation group B

MIM:314390

NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255

FOXF1

forkhead box F1

MIM:265380 ORPHA:210122

NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422

GATA binding protein 4

MIM:607941 MIM:614429 ORPHA:251071

NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002

GATA binding protein 6

MIM:614474

NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528

GLI1

GLI family zinc finger 1

NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268

GLI3

GLI family zinc finger 3

ORPHA:672

NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100

intraflagellar transport 56

NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986

KAT6B

lysine acetyltransferase 6B

ORPHA:3047

NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624

lysine demethylase 6A

MIM:300867

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

lon peptidase 1, mitochondrial

MIM:600373

NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572

leucine zipper like post translational regulator 1

MIM:605275

NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032

MMP21

matrix metallopeptidase 21

MIM:616749

NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821

NEK1

NIMA related kinase 1

ORPHA:2751

NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632

NODAL

nodal growth differentiation factor

MIM:270100

NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951

NR2F2

nuclear receptor subfamily 2 group F member 2

MIM:615779

NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263

protein kinase cAMP-activated catalytic subunit alpha

MIM:619142 ORPHA:289

NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084

PRKACB

protein kinase cAMP-activated catalytic subunit beta

MIM:619143 ORPHA:289

NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498

protein kinase D1

NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898

protein tyrosine phosphatase non-receptor type 11

ORPHA:500

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

poly(U) binding splicing factor 60

ORPHA:508488 ORPHA:508498

NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709

RAB34

RAB34, member RAS oncogene family

MIM:620718

NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

ORPHA:500

NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201

RNA binding motif protein 8A

MIM:274000

NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678

SUPT16H

SPT16 homolog, facilitates chromatin remodeling subunit

MIM:619480

NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019

T-box transcription factor 5

ORPHA:392

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

VPS35L

VPS35 endosomal protein sorting factor like

MIM:619135 ORPHA:7

NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793

WASHC5

WASH complex subunit 5

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

WBP4

WW domain binding protein 4

MIM:620852

NCBI chr13:41,061,509...41,084,006
Ensembl chr13:41,061,509...41,084,006

ZIC3

Zic family member 3

MIM:306955 MIM:314390

NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691

Complete atrioventricular canal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACVR2B

activin A receptor type 2B

MIM:613751

NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142

CDC45

cell division cycle 45

MIM:617063

NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612

ciliated left-right organizer metallopeptidase

NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989

GATA binding protein 6

MIM:217095

NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528

growth differentiation factor 1

MIM:208530 MIM:613854

NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158

HYLS1

HYLS1 centriolar and ciliogenesis associated

MIM:236680

NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646

INTU

inturned planar cell polarity protein

MIM:617925

NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737

iroquois homeobox 5

NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485

NK2 homeobox 5

NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311

NK2 homeobox 6

NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756

protein kinase cAMP-activated catalytic subunit alpha

MIM:619142

NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084

protein tyrosine phosphatase non-receptor type 11

MIM:151100

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

poly(U) binding splicing factor 60

ORPHA:508488

NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709

TBX1

T-box transcription factor 1

MIM:217095

NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593

T-box transcription factor 5

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

TRIO

trio Rho guanine nucleotide exchange factor

ORPHA:476126

NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128

WDPCP

WD repeat containing planar cell polarity effector

MIM:217085

NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843

Zic family member 3

NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691

Inlet ventricular septal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

intraflagellar transport 56

NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986

Multiple muscular ventricular septal defects

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

DPH5

diphthamide biosynthesis 5

MIM:620070

NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088

desmoglein 1

NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246

MYCN

MYCN proto-oncogene, bHLH transcription factor

ORPHA:391641

NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007

Muscular ventricular septal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALG12

ALG12 alpha-1,6-mannosyltransferase

ORPHA:79324

NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438

ATP6V0A2

ATPase H+ transporting V0 subunit a2

MIM:278250

NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755

DNAJC19

DnaJ heat shock protein family (Hsp40) member C19

ORPHA:66634

NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774

DPH2

diphthamide biosynthesis 2

MIM:620062

NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369

GATA binding protein 6

MIM:614474

NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528

GET3

guided entry of tail-anchored proteins factor 3, ATPase

MIM:620203

NCBI chr19:12,737,106...12,748,323
Ensembl chr19:12,737,139...12,748,323

GJA5

gap junction protein alpha 5

NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362

GJA8

gap junction protein alpha 8

NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269

GNB2

G protein subunit beta 2

MIM:619503

NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174

mitogen-activated protein kinase kinase kinase 7

MIM:157800

NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086

MYBPC3

myosin binding protein C3

MIM:115197

NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702

MYH7

myosin heavy chain 7

ClinVar Annotator: match by term: Muscular ventricular septal defect

PMID:25741868 PMID:28492532 PMID:29892087 PMID:31737537

NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660

nuclear receptor binding SET domain protein 1

MIM:117550

NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213

nucleoporin 188

NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096

phospholipase D1

NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950

PPP2CA

protein phosphatase 2 catalytic subunit alpha

MIM:618354

NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,193,978...134,226,073

PSMC1

proteasome 26S subunit, ATPase 1

MIM:620071

NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429

RNA, U4atac small nuclear

MIM:210710

NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007

RPL3L

ribosomal protein L3 like

MIM:619371

NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606

SVBP

small vasohibin binding protein

MIM:618569

NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397

T-box transcription factor 5

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

THO complex subunit 6

ORPHA:363444

NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755

WBP11

WW domain binding protein 11

MIM:619227

NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486

Partial atrioventricular canal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CFAP45

cilia and flagella associated protein 45

MIM:619608

NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165

CRELD1

cysteine rich with EGF like domains 1

MIM:606217

NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413

deoxyhypusine hydroxylase

NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674

GCSH

glycine cleavage system protein H

MIM:620423

NCBI chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395

IFT27

intraflagellar transport 27

MIM:615996

NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256

RNA polymerase I subunit A

MIM:616462

NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155

Patent foramen ovale

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACADVL

acyl-CoA dehydrogenase very long chain

ORPHA:26793

NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266

AFF4

ALF transcription elongation factor 4

MIM:616368 ORPHA:444077

NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634

AGO2

argonaute RISC catalytic component 2

MIM:619149

NCBI chr 8:140,520,156...140,642,313
Ensembl chr 8:140,520,156...140,635,633

ALG12

ALG12 alpha-1,6-mannosyltransferase

MIM:607143 ORPHA:79324

NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438

AMMECR1

AMMECR nuclear protein 1

MIM:300990

NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318

ANAPC7

anaphase promoting complex subunit 7

MIM:619699

NCBI chr12:110,372,900...110,403,708
Ensembl chr12:110,372,900...110,403,730

ASCC1

activating signal cointegrator 1 complex subunit 1

MIM:616867

NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134

atrophin 1

NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321

ATP6V1E1

ATPase H+ transporting V1 subunit E1

MIM:617402

NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749

B3GAT3

beta-1,3-glucuronyltransferase 3

NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154

BICRA

BRD4 interacting chromatin remodeling complex associated protein

MIM:619325

NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277

CACNA1C

calcium voltage-gated channel subunit alpha1 C

MIM:601005

NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950

CACNA1D

calcium voltage-gated channel subunit alpha1 D

MIM:615474

NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733

cyclin Q

NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045

CDC42BPB

CDC42 binding protein kinase beta

MIM:619841

NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549

CDK8

cyclin dependent kinase 8

MIM:618748

NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982

CEP295

centrosomal protein 295

MIM:620767

NCBI chr11:93,661,682...93,730,358
Ensembl chr11:93,661,682...93,730,358

CHMP1A

charged multivesicular body protein 1A

MIM:614961

NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738

CHST3

carbohydrate sulfotransferase 3

NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558

ciliated left-right organizer metallopeptidase

NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989

calaxin

NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311

COL11A1

collagen type XI alpha 1 chain

MIM:228520

NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872

CREBBP

CREB binding protein

MIM:180849 ORPHA:353277

NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713

CSGALNACT1

chondroitin sulfate N-acetylgalactosaminyltransferase 1

MIM:618870

NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029

dynein assembly factor with WD repeats 1

NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344

DEAD-box helicase 6

NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164

DNA2

DNA replication helicase/nuclease 2

MIM:615156

NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121

double PHD fingers 2

NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262

DSE

dermatan sulfate epimerase

MIM:615539

NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861

DVL3

dishevelled segment polarity protein 3

MIM:616894

NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614

euchromatic histone lysine methyltransferase 1

NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016

E1A binding protein p300

MIM:180849 ORPHA:353284

NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077

ESAM

endothelial cell adhesion molecule

MIM:620371

NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290

FA complementation group I

MIM:609053

NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261

FBXL4

F-box and leucine rich repeat protein 4

MIM:615471

NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006

FBXW11

F-box and WD repeat domain containing 11

MIM:618914

NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873

FIG4

FIG4 phosphoinositide 5-phosphatase

MIM:216340

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

folliculin

NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188

FLNA

filamin A

ClinVar Annotator: match by term: Patent foramen ovale

ORPHA:88630

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

focadhesin

NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955

forkhead box F1

NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422

FRA10AC1

FRA10A associated CGG repeat 1

MIM:620113

NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592

GATA binding protein 6

MIM:600001 ORPHA:2255

NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528

GNB5

G protein subunit beta 5

MIM:617182 ORPHA:542306

NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,100...52,191,392

GNPTAB

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

ORPHA:576

NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959

HACD1

3-hydroxyacyl-CoA dehydratase 1

MIM:619967

NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374

HSPA9

heat shock protein family A (Hsp70) member 9

MIM:616854

NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675

intraflagellar transport 56

NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986

IGF1R

insulin like growth factor 1 receptor

MIM:270450

NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530

importin 8

NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869

KATNB1

katanin regulatory subunit B1

NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244

KDM1A

lysine demethylase 1A

ORPHA:477993

NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689

lysine demethylase 6A

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

lysine methyltransferase 2D

MIM:147920 MIM:620186

NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794

KRAS

KRAS proto-oncogene, GTPase

MIM:609942

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

lamin B1

NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020

LOC107988032

Xq28 proximal FLNA-EMD recombination region

ClinVar Annotator: match by term: Patent foramen ovale

NCBI chr X:154,335,912...154,349,572

lon peptidase 1, mitochondrial

MIM:600373

NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572

LTBP4

latent transforming growth factor beta binding protein 4

MIM:613177

NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818

leucine zipper like post translational regulator 1

MIM:605275

NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032

mitogen-activated protein kinase kinase kinase 7

MIM:157800 MIM:617137

NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086

MAX

MYC associated factor X

MIM:620712

NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695

MED11

mediator complex subunit 11

MIM:620327

NCBI chr17:4,731,428...4,733,607
Ensembl chr17:4,731,428...4,733,608

MED12

mediator complex subunit 12

MIM:301068

NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103

MED13L

mediator complex subunit 13L

MIM:616789 ORPHA:369891

NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693

midline 1

NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654

MRPL3

mitochondrial ribosomal protein L3

MIM:614582

NCBI chr 3:131,462,212...131,502,971
Ensembl chr 3:131,462,212...131,502,983

metaxin 2

NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025

N-alpha-acetyltransferase 10, NatA catalytic subunit

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NCAPG2

non-SMC condensin II complex subunit G2

MIM:618460

NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804

NDE1

nudE neurodevelopment protein 1

NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691

neurofibromin 1

NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116

NIPBL

NIPBL cohesin loading factor

MIM:122470

NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413

NK2 homeobox 1

NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149

NK2 homeobox 5

NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311

NONO

non-POU domain containing octamer binding

MIM:300967 ORPHA:466791

NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522

notch receptor 1

NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048

NRAS

NRAS proto-oncogene, GTPase

MIM:613224

NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Patent foramen ovale

PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:18414213 More...

NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213

occludin

NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104

phosphofurin acidic cluster sorting protein 1

MIM:615009 ORPHA:329224

NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744

PHGDH

phosphoglycerate dehydrogenase

MIM:256520

NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

ORPHA:280633

NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118

PKDCC

protein kinase domain containing, cytoplasmic

MIM:618821

NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517

phospholipase D1

NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950

POGZ

pogo transposable element derived with ZNF domain

MIM:616364

NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494

RNA polymerase I subunit A

MIM:616462

NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155

PPP1CB

protein phosphatase 1 catalytic subunit beta

MIM:617506

NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940

PPP1R13L

protein phosphatase 1 regulatory subunit 13 like

MIM:620519

NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349

PPP2R5D

protein phosphatase 2 regulatory subunit B'delta

ORPHA:457279

NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342

PRIM1

DNA primase subunit 1

MIM:620005

NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374

proline rich 12

NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439

RAC1

Rac family small GTPase 1

ORPHA:500159

NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967

RAI1

retinoic acid induced 1

ORPHA:477817

NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453

reelin

NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658

RERE

arginine-glutamic acid dipeptide repeats

MIM:616975

NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921

RIPK4

receptor interacting serine/threonine kinase 4

MIM:263650

NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089

RNF213

ring finger protein 213

ClinVar Annotator: match by term: Patent foramen ovale

NCBI chr17:80,260,852...80,398,794
Ensembl chr17:80,260,852...80,398,794

RNF213-AS1

RNF213 antisense RNA 1

ClinVar Annotator: match by term: Patent foramen ovale

NCBI chr17:80,351,830...80,415,168
Ensembl chr17:80,351,828...80,415,168

RNA, U4atac small nuclear

MIM:210710

NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007

ROBO1

roundabout guidance receptor 1

MIM:620305

NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998

RPL3L

ribosomal protein L3 like

MIM:619371

NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606

RSPRY1

ring finger and SPRY domain containing 1

ORPHA:457395

NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469

SCUBE3

signal peptide, CUB domain and EGF like domain containing 3

MIM:619184

NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079

SDHD

succinate dehydrogenase complex subunit D

MIM:619167

NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016

SETD1A

SET domain containing 1A, histone lysine methyltransferase

MIM:618832

NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,294...30,984,664

SH3 and PX domains 2B

NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525

SMAD family member 6

NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849

SMC3

structural maintenance of chromosomes 3

MIM:610759

NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048

SMG8

SMG8 nonsense mediated mRNA decay factor

MIM:619268

NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239

SNRPN

small nuclear ribonucleoprotein polypeptide N

ORPHA:177907

NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723

STAG2

STAG2 cohesin complex component

MIM:301043

NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664

STAM binding protein

NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659

STAT1

signal transducer and activator of transcription 1

ORPHA:391487

NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960

STK4

serine/threonine kinase 4

MIM:614868

NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,084,214

SUCLG1

succinate-CoA ligase GDP/ADP-forming subunit alpha

ORPHA:17

NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045

transaldolase 1

NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012

taspase 1

NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932

TBX20

T-box transcription factor 20

MIM:611363

NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100

T-box transcription factor 5

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

TGFB3

transforming growth factor beta 3

MIM:615582

NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011

TGFBR2

transforming growth factor beta receptor 2

MIM:610168

NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249

THSD1

thrombospondin type 1 domain containing 1

MIM:620244

NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373

TKT

transketolase

MIM:617044 ORPHA:488618

NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052

TMEM147

transmembrane protein 147

MIM:620075

NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526

TMEM94

transmembrane protein 94

MIM:618316

NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452

TRIP4

thyroid hormone receptor interactor 4

MIM:616866

NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303

TRPM4

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: Patent foramen ovale

NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836

TRRAP

transformation/transcription domain associated protein

MIM:618454

NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831

TSFM

Ts translation elongation factor, mitochondrial

MIM:610505

NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071

TWIST1

twist family bHLH transcription factor 1

MIM:617746

NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636

UBE2A

ubiquitin conjugating enzyme E2 A

ORPHA:163956

NCBI chr X:119,574,563...119,584,423
Ensembl chr X:119,474,802...119,591,083

UBR7

ubiquitin protein ligase E3 component n-recognin 7

MIM:619189

NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215

UFC1

ubiquitin-fold modifier conjugating enzyme 1

MIM:618076

NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856

VPS33A

VPS33A core subunit of CORVET and HOPS complexes

ORPHA:505248

NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502

VPS33B

VPS33B late endosome and lysosome associated

MIM:208085

NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603

WD repeat domain 35

NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105

WD repeat domain 37

NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991

WLS

Wnt ligand secretion mediator

MIM:619648

NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120

YY1

YY1 transcription factor

MIM:617557 ORPHA:506358

NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788

Zic family member 3

NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691

ZNF699

zinc finger protein 699

MIM:619488

NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838

Perimembranous ventricular septal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALG8

ALG8 alpha-1,3-glucosyltransferase

MIM:608104

NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660

ATRX

ATRX chromatin remodeler

MIM:301040

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

BMP2

bone morphogenetic protein 2

MIM:617877

NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246

calmodulin 3

NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782

CHD3

chromodomain helicase DNA binding protein 3

MIM:618205

NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760

CITED2

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

MIM:614431

NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648

calaxin

NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311

COG7

component of oligomeric golgi complex 7

MIM:608779

NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189

CREB binding protein

NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713

E1A binding protein p300

MIM:180849

NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077

exoribonuclease 1

NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746

fumarate hydratase

MIM:606812

NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799

GATA binding protein 6

MIM:600001

NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528

GJA5

gap junction protein alpha 5

NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362

GJA8

gap junction protein alpha 8

NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269

LSM1

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Perimembranous ventricular septal defect

PMID:25741868 PMID:31010896

NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730

Meis homeobox 2

NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299

myosin heavy chain 7

NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660

N-alpha-acetyltransferase 10, NatA catalytic subunit

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NDUFB7

NADH:ubiquinone oxidoreductase subunit B7

MIM:620135

NCBI chr19:14,566,078...14,572,066
Ensembl chr19:14,566,078...14,572,066

NDUFC2

NADH:ubiquinone oxidoreductase subunit C2

MIM:619170

NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862

nucleoporin 188

NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096

poly(U) binding splicing factor 60

ORPHA:508498

NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709

RAD21

RAD21 cohesin complex component

MIM:611376

NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776

SEC31A

SEC31 homolog A, COPII coat complex component

MIM:618651

NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166

T-box transcription factor 5

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

THO complex subunit 6

ORPHA:363444

NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755

Primum atrial septal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CFAP45

cilia and flagella associated protein 45

MIM:619608

NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

MIM:615272

NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348

GATA binding protein 4

MIM:614430

NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002

intraflagellar transport 56

NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986

Secundum atrial septal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACTC1

actin alpha cardiac muscle 1

MIM:612794

NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589

adenosine kinase

NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963

ATIC

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

MIM:608688

NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773

ATP2B1

ATPase plasma membrane Ca2+ transporting 1

MIM:619910

NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366

ATP9A

ATPase phospholipid transporting 9A (putative)

MIM:620242

NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390

BUB1

BUB1 mitotic checkpoint serine/threonine kinase

MIM:620183

NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063

CEP295

centrosomal protein 295

MIM:620767

NCBI chr11:93,661,682...93,730,358
Ensembl chr11:93,661,682...93,730,358

chromodomain helicase DNA binding protein 7

MIM:214800

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

COG7

component of oligomeric golgi complex 7

MIM:608779

NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189

deoxyhypusine hydroxylase

NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674

EIF4A2

eukaryotic translation initiation factor 4A2

MIM:620455

NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897

FILIP1

filamin A interacting protein 1

MIM:620775

NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800

FLII

FLII actin remodeling protein

MIM:620635

NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738

G6PC3

glucose-6-phosphatase catalytic subunit 3

MIM:612541

NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151

GATA binding protein 6

MIM:614475

NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528

growth differentiation factor 1

MIM:613854

NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158

GET3

guided entry of tail-anchored proteins factor 3, ATPase

MIM:620203

NCBI chr19:12,737,106...12,748,323
Ensembl chr19:12,737,139...12,748,323

H4C3

H4 clustered histone 3

MIM:619758

NCBI chr 6:26,103,933...26,104,337
Ensembl chr 6:26,103,933...26,104,337

H4C9

H4 clustered histone 9

MIM:619951

NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,140,640

HEATR3

HEAT repeat containing 3

MIM:620072

NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272

IDH1

isocitrate dehydrogenase (NADP(+)) 1

ORPHA:99646

NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074

intraflagellar transport 56

NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986

KAT6A

lysine acetyltransferase 6A

MIM:616268

NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994

KDM5B

lysine demethylase 5B

MIM:618109

NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487

lysine demethylase 6A

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

lysine methyltransferase 2D

NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794

Meis homeobox 2

NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299

METTL5

methyltransferase 5, N6-adenosine

MIM:618665

NCBI chr 2:169,811,757...169,824,905
Ensembl chr 2:169,810,081...169,824,931

myosin heavy chain 6

NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273

N-alpha-acetyltransferase 10, NatA catalytic subunit

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

neurofibromin 1

NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116

NK2 homeobox 5

NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311

NR2F2

nuclear receptor subfamily 2 group F member 2

MIM:618901

NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263

PGAP1

post-GPI attachment to proteins inositol deacylase 1

MIM:615802

NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796

PKD1

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type

NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898

POLR3A

RNA polymerase III subunit A

MIM:264090

NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522

PR/SET domain 13

NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578

PRRX1

paired related homeobox 1

MIM:202650

NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421

PTF1A

pancreas associated transcription factor 1a

MIM:609069

NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type

PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More...

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

RPL11

ribosomal protein L11

MIM:612562

NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835

RRAGC

Ras related GTP binding C

MIM:620609

NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772

SH3 and PX domains 2B

NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525

SHMT2

serine hydroxymethyltransferase 2

MIM:619121

NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935

STK4

serine/threonine kinase 4

MIM:614868

NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,084,214

T-box transcription factor 5

ClinVar Annotator: match by term: Secundum atrial septal defect

PMID:25741868 PMID:29555671

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

TRIP4

thyroid hormone receptor interactor 4

MIM:616866

NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303

USP18

ubiquitin specific peptidase 18

MIM:617397

NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397

ZNF668

zinc finger protein 668

MIM:620194

NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240

Sinus venosus atrial septal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

dynein assembly factor with WD repeats 1

NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344

T-box transcription factor 5

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

Subarterial ventricular septal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

IDH1

isocitrate dehydrogenase (NADP(+)) 1

ORPHA:99646

NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074

Unbalanced atrioventricular canal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CFAP53

cilia and flagella associated protein 53

MIM:614779

NCBI chr18:50,227,193...50,266,495
Ensembl chr18:50,227,193...50,266,495

DNAH9

dynein axonemal heavy chain 9

MIM:618300

NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748

intraflagellar transport 56

NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986

PKD1L1

polycystin 1 like 1, transient receptor potential channel interacting

MIM:617205

NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466

plexin D1

NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676

SMAD family member 2

NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146

Unroofed coronary sinus

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

T-box transcription factor 5

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

Ventricular septal defect

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AARS1

alanyl-tRNA synthetase 1

NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

MIM:617602

NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675

ACADVL

acyl-CoA dehydrogenase very long chain

ORPHA:26793

NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266

ACVR2B

activin A receptor type 2B

MIM:613751

NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142

ADA2

adenosine deaminase 2

NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235

ADAMTS10

ADAM metallopeptidase with thrombospondin type 1 motif 10

MIM:277600 ORPHA:3449

NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735

ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif 17

ORPHA:3449

NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005

AFF4

ALF transcription elongation factor 4

MIM:616368 ORPHA:444077

NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634

AKT3

AKT serine/threonine kinase 3

ORPHA:83473

NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079

ALDH1A2

aldehyde dehydrogenase 1 family member A2

MIM:620025

NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866

ALG9

ALG9 alpha-1,2-mannosyltransferase

ORPHA:79328

NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581

ALKBH8

alkB homolog 8, tRNA methyltransferase

MIM:618504

NCBI chr11:107,502,727...107,565,735
Ensembl chr11:107,502,727...107,565,742

AMER1

APC membrane recruitment protein 1

MIM:300373

NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708

ANKRD11

ankyrin repeat domain containing 11

ORPHA:261250

NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561

APC2

APC regulator of WNT signaling pathway 2

ORPHA:821

NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244

archain 1

NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033

ARHGAP31

Rho GTPase activating protein 31

MIM:100300

NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714

ARID1A

AT-rich interaction domain 1A

NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104

ARID1B

AT-rich interaction domain 1B

MIM:135900 ORPHA:1465

NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779

ARID2

AT-rich interaction domain 2

NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040

arylsulfatase L

NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475

ARVCF

ARVCF delta catenin family member

NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823

ARX

aristaless related homeobox

ORPHA:1934 ORPHA:452

NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420

ASXL1

ASXL transcriptional regulator 1

MIM:605039

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

atrophin 1

NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321

ATP6V1A

ATPase H+ transporting V1 subunit A

MIM:617403

NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056

ATRX

ATRX chromatin remodeler

MIM:301040

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

axin 1

NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723

B3GALT6

beta-1,3-galactosyltransferase 6

MIM:271640

NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041

B3GLCT

beta 3-glucosyltransferase

MIM:261540

NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276

BAP1

BRCA1 associated deubiquitinase 1

MIM:619762

NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008

BAZ1B

bromodomain adjacent to zinc finger domain 1B

NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293

BCL6 corepressor

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

BCR

BCR activator of RhoGEF and GTPase

NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037

BRAF

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Ventricular septal defect

PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More...

MIM:163950

NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929

BRD4

bromodomain containing 4

MIM:620568 ORPHA:199

NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545

BRF1

BRF1 general transcription factor IIIB subunit

MIM:616202 ORPHA:444072

NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212

C2CD3

C2 domain containing 3 centriole elongation regulator

MIM:615948 ORPHA:434179

NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210

CACNA1C

calcium voltage-gated channel subunit alpha1 C

MIM:601005

NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950

CACNA1D

calcium voltage-gated channel subunit alpha1 D

MIM:615474 ORPHA:369929

NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733

CAMK2A

calcium/calmodulin dependent protein kinase II alpha

MIM:617798

NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093

CANT1

calcium activated nucleotidase 1

ORPHA:1425

NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867

CARS1

cysteinyl-tRNA synthetase 1

NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613

CASK

calcium/calmodulin dependent serine protein kinase

NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554

CCBE1

collagen and calcium binding EGF domains 1

MIM:235510

NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662

CCDC174

coiled-coil domain containing 174

MIM:616816

NCBI chr 3:14,651,762...14,672,655
Ensembl chr 3:14,651,762...14,672,659

CCDC22

coiled-coil domain containing 22

MIM:300963 ORPHA:7

NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520

CCDC32

coiled-coil domain containing 32

MIM:619123

NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054

CCDC47

coiled-coil domain containing 47

MIM:618268

NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351

cyclin D2

NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353

CD96 molecule

NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996

CDC45

cell division cycle 45

MIM:617063

NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612

CDK13

cyclin dependent kinase 13

MIM:617360

NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580

CDK8

cyclin dependent kinase 8

MIM:618748

NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982

CDKL5

cyclin dependent kinase like 5

NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629

CEP290

centrosomal protein 290

MIM:611134

NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099

CEP57

centrosomal protein 57

MIM:614114

NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693

CHD4

chromodomain helicase DNA binding protein 4

MIM:617159

NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524

chromodomain helicase DNA binding protein 7

MIM:214800

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

CHMP1A

charged multivesicular body protein 1A

MIM:614961

NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738

CHRM3

cholinergic receptor muscarinic 3

ORPHA:2970

NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452

CHST3

carbohydrate sulfotransferase 3

MIM:143095

NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558

ciliated left-right organizer metallopeptidase

NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989

CKAP2L

cytoskeleton associated protein 2 like

MIM:272440 ORPHA:3255

NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664

CLIP2

CAP-Gly domain containing linker protein 2

NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935

COG6

component of oligomeric golgi complex 6

MIM:614576

NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666

COL1A2

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Ventricular septal defect

PMID:28492532 PMID:30311386

NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227

COMT

catechol-O-methyltransferase

NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975

coenzyme Q4

NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072

COX7B

cytochrome c oxidase subunit 7B

NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376

complexin 1

NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129

CRB2

crumbs cell polarity complex component 2

MIM:219730

NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324

CREBBP

CREB binding protein

MIM:180849 ORPHA:353277 ORPHA:353281

NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713

CRKL

CRK like proto-oncogene, adaptor protein

NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747

CSGALNACT1

chondroitin sulfate N-acetylgalactosaminyltransferase 1

MIM:618870 ORPHA:1425

NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029

CTBP1

C-terminal binding protein 1

NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333

CCCTC-binding factor

NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177

CTU2

cytosolic thiouridylase subunit 2

MIM:618142

NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396

cut like homeobox 1

NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958

CWC27

CWC27 spliceosome associated cyclophilin

MIM:250410 ORPHA:166035

NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412

dynein assembly factor with WD repeats 1

NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344

DDX11

DEAD/H-box helicase 11

MIM:613398

NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799

DEAD-box helicase 59

NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907

DGCR2

DiGeorge syndrome critical region gene 2

NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454

DGCR6

DiGeorge syndrome critical region gene 6

NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238

DGCR8

DGCR8 microprocessor complex subunit

NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877

DHCR7

7-dehydrocholesterol reductase

MIM:270400 ORPHA:818

NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868

DLG5

discs large MAGUK scaffold protein 5

MIM:620703

NCBI chr10:77,790,791...77,940,736
Ensembl chr10:77,790,791...77,926,755

DLK1

delta like non-canonical Notch ligand 1

ORPHA:254534 ORPHA:96334

NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224

DLL4

delta like canonical Notch ligand 4

MIM:616589

NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073

Dmx like 2

NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453

DNMT3A

DNA methyltransferase 3 alpha

MIM:615879

NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590

deoxyhypusine hydroxylase

NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674

DPF2

double PHD fingers 2

MIM:618027 ORPHA:1465

NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262

DPH1

diphthamide biosynthesis 1

MIM:616901

NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898

DPH2

diphthamide biosynthesis 2

ClinVar Annotator: match by term: Ventricular septal defect

PMID:32576952

NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369

DPYSL5

dihydropyrimidinase like 5

NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351

dystonin

NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830

dystrobrevin alpha

NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844

DVL1

dishevelled segment polarity protein 1

MIM:616331

NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418

DVL3

dishevelled segment polarity protein 3

MIM:616894

NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614

DYNC2I1

dynein 2 intermediate chain 1

MIM:615503

NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010

DYRK1A

dual specificity tyrosine phosphorylation regulated kinase 1A

ORPHA:268261 ORPHA:464311

NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358

ECE1

endothelin converting enzyme 1

MIM:613870

NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572

ECHS1

enoyl-CoA hydratase, short chain 1

MIM:616277

NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354

EFTUD2

elongation factor Tu GTP binding domain containing 2

MIM:610536

NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445

euchromatic histone lysine methyltransferase 1

NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016

EIF4H

eukaryotic translation initiation factor 4H

NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122

ELN

elastin

MIM:123700 MIM:194050 ORPHA:904

NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907

EOGT

EGF domain specific O-linked N-acetylglucosamine transferase

MIM:615297

NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684

E1A binding protein p300

MIM:180849 ORPHA:353284

NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077

ERBB3

erb-b2 receptor tyrosine kinase 3

MIM:607598

NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918

ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit

NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166

ERF

ETS2 repressor factor

ClinVar Annotator: match by term: Ventricular septal defect

NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128

exoribonuclease 1

NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

MIM:268300

NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640

ESS2

ess-2 splicing factor homolog

NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684

EVC

EvC ciliary complex subunit 1

NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305

EVC2

EvC ciliary complex subunit 2

NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548

EXOC2

exocyst complex component 2

MIM:619306

NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139

EXT2

exostosin glycosyltransferase 2

MIM:616682

NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962

FADD

Fas associated via death domain

MIM:613759 ORPHA:306550

NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390

FA complementation group B

MIM:300514

NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255

FANCC

FA complementation group C

MIM:227645

NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796

FA complementation group I

MIM:609053

NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261

FBN1

fibrillin 1

MIM:608328 ORPHA:3449

NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721

fibrillin 2

NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185

FGFR1

fibroblast growth factor receptor 1

MIM:613001

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

FGFR2

fibroblast growth factor receptor 2

MIM:101200

NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458

FGFRL1

fibroblast growth factor receptor like 1

NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898

FIBP

FGF1 intracellular binding protein

MIM:617107 ORPHA:500095

NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531

FIG4

FIG4 phosphoinositide 5-phosphatase

MIM:216340 ORPHA:3472

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

FILIP1

filamin A interacting protein 1

MIM:620775

NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637

FLI1

Fli-1 proto-oncogene, ETS transcription factor

ORPHA:2308

NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267

FLNA

filamin A

ClinVar Annotator: match by term: Ventriculoseptal defect

PMID:28492532

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

filamin B

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

focadhesin

NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955

forkhead box C2

NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728

FOXF1

forkhead box F1

ClinVar Annotator: match by term: Ventricular septal defect

MIM:265380 ORPHA:210122

NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422

FOXP4

forkhead box P4

ClinVar Annotator: match by term: Ventricular septal defect

NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384

FRA10AC1

FRA10A associated CGG repeat 1

MIM:620113

NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592

FTO

FTO alpha-ketoglutarate dependent dioxygenase

MIM:612938

NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512

GATA1

GATA binding protein 1

NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311

GATA binding protein 4

ClinVar Annotator: match by term: Ventricular septal defect

PMID:25741868 PMID:28492532 PMID:30755392

MIM:607941 MIM:614429

NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002

GATA5

GATA binding protein 5

MIM:617912

NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995

GATA binding protein 6

MIM:600001 ORPHA:2255

NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528

growth differentiation factor 1

MIM:208530 MIM:613854

NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158

GDF3

growth differentiation factor 3

ORPHA:2345

NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775

GDF6

growth differentiation factor 6

ORPHA:2345

NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806

GJA1

gap junction protein alpha 1

ORPHA:2710

NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727

GLI1

GLI family zinc finger 1

NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268

GLI3

GLI family zinc finger 3

MIM:146510 ORPHA:672

NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100

GNAO1

G protein subunit alpha o1

NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444

GNB2

G protein subunit beta 2

MIM:619503

NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174

GP1BB

glycoprotein Ib platelet subunit beta

NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771

glypican 3

NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100

glypican 4

NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489

glypican 6

NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020

GRIN1

glutamate ionotropic receptor NMDA type subunit 1

NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756

GRM7

glutamate metabotropic receptor 7

NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533

GTF2E2

general transcription factor IIE subunit 2

NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236

GTF2H5

general transcription factor IIH subunit 5

NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344

GTF2I

general transcription factor IIi

NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692

GTF2IRD1

GTF2I repeat domain containing 1

NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605

GTF2IRD2

GTF2I repeat domain containing 2

NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605

HCCS

holocytochrome c synthase

NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086

HDAC8

histone deacetylase 8

NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101

HEATR3

HEAT repeat containing 3

NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272

HIRA

histone cell cycle regulator

NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450

HNRNPK

heterogeneous nuclear ribonucleoprotein K

ORPHA:352665 ORPHA:453504

NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631

HNRNPR

heterogeneous nuclear ribonucleoprotein R

MIM:620073

NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336

homeobox A13

NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091

HRAS

HRas proto-oncogene, GTPase

MIM:218040 ORPHA:3071

NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321

HYLS1

HYLS1 centriolar and ciliogenesis associated

MIM:236680

NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646

HYMAI

hydatidiform mole associated and imprinted

ORPHA:96191

NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262

IFT172

intraflagellar transport 172

MIM:615630

NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805

IFT27

intraflagellar transport 27

MIM:615996

NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256

intraflagellar transport 56

NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986

IFT81

intraflagellar transport 81

MIM:617895

NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793

IGBP1

immunoglobulin binding protein 1

MIM:300472 ORPHA:52055

NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324

IGF1R

insulin like growth factor 1 receptor

MIM:270450

NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530

insulin receptor

NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414

importin 8

NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869

JAG1

jagged canonical Notch ligand 1

MIM:118450 MIM:617992

NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999

JAM3

junctional adhesion molecule 3

MIM:613730

NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001

JMJD1C

jumonji domain containing 1C

NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850

KANSL1

KAT8 regulatory NSL complex subunit 1

MIM:610443 ORPHA:363958 ORPHA:363965

NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389

KAT5

lysine acetyltransferase 5

MIM:619103

NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604

KAT6A

lysine acetyltransferase 6A

MIM:616268 ORPHA:457193

NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994

KAT6B

lysine acetyltransferase 6B

MIM:606170 ORPHA:3047

NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624

KAT8

lysine acetyltransferase 8

MIM:618974

NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393

KCNA1

potassium voltage-gated channel subfamily A member 1

NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256

KDM3B

lysine demethylase 3B

MIM:618846

NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028

KDM5A

lysine demethylase 5A

MIM:620820

NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320

lysine demethylase 6A

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

KIFBP

kinesin family binding protein

MIM:609460

NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544

KLHL41

kelch like family member 41

MIM:615731

NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258

lysine methyltransferase 2D

NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794

KRAS

KRAS proto-oncogene, GTPase

MIM:609942

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

LARS2

leucyl-tRNA synthetase 2, mitochondrial

MIM:617021

NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726

lamin B receptor

NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156

LIM domain kinase 1

NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525

LOC126805726

CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554

ClinVar Annotator: match by term: Ventricular septal defect

PMID:32576952

NCBI chr 1:43,971,353...43,972,882

lon peptidase 1, mitochondrial

MIM:600373 ORPHA:1458 ORPHA:79243

NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572

LRP2

LDL receptor related protein 2

MIM:222448 ORPHA:2143

NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534

LRP5

LDL receptor related protein 5

MIM:259770

NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275

LTBP2

latent transforming growth factor beta binding protein 2

ORPHA:3449

NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378

leucine zipper like post translational regulator 1

MIM:605275 MIM:616564

NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032

MACF1

microtubule actin crosslinking factor 1

MIM:618325

NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177

MAP2K1

mitogen-activated protein kinase kinase 1

MIM:163950 MIM:615279

NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656

mitogen-activated protein kinase kinase kinase 7

MIM:157800

NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086

MAPK1

mitogen-activated protein kinase 1

NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680

MASP1

MBL associated serine protease 1

MIM:257920

NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980

MED12

mediator complex subunit 12

MIM:301068 MIM:309520

NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103

MED13L

mediator complex subunit 13L

ORPHA:369891

NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693

MED23

mediator complex subunit 23

MIM:614249

NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242

MED25

mediator complex subunit 25

MIM:616449 ORPHA:464738

NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383

MEG3

maternally expressed 3

ORPHA:254534 ORPHA:96334

NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031

MEIS2

Meis homeobox 2

MIM:600987 ORPHA:261190

NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299

MEOX1

mesenchyme homeobox 1

MIM:214300 ORPHA:2345

NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922

METTL27

methyltransferase like 27

NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516

MGAT2

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

MIM:212066 ORPHA:79329

NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481

MGP

matrix Gla protein

MIM:245150 ORPHA:85202

NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857

MICU1

mitochondrial calcium uptake 1

MIM:615673

NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131

MID1

midline 1

MIM:300000 ORPHA:2745

NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654

MIR17HG

miR-17-92a-1 cluster host gene

ORPHA:391646

NCBI chr13:91,347,687...91,354,577
Ensembl chr13:91,347,686...91,397,592

MKKS

MKKS centrosomal shuttling protein

ORPHA:2473

NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222

MLXIPL

MLX interacting protein like

MIM:194050

NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543

MMP14

matrix metallopeptidase 14

NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041

MMP2

matrix metallopeptidase 2

NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691

MPLKIP

M-phase specific PLK1 interacting protein

MIM:234050 ORPHA:33364

NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622

MT-CYB

mitochondrially encoded cytochrome b

ORPHA:137675

NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887

MTFMT

mitochondrial methionyl-tRNA formyltransferase

MIM:614947

NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639

MYCN

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Ventricular septal defect

MIM:164280 MIM:620748

NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007

myosin heavy chain 3

NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309

myocardin

NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949

MYRF

myelin regulatory factor

MIM:618280

NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518

N-alpha-acetyltransferase 10, NatA catalytic subunit

MIM:300855 ORPHA:276432

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NAA20

N-alpha-acetyltransferase 20, NatB catalytic subunit

MIM:619717

NCBI chr20:20,017,290...20,033,655
Ensembl chr20:20,017,310...20,033,655

NAE1

NEDD8 activating enzyme E1 subunit 1

MIM:620210

NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256

NCF1

neutrophil cytosolic factor 1

NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315

NDUFB11

NADH:ubiquinone oxidoreductase subunit B11

NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466

NEDD4L

NEDD4 like E3 ubiquitin protein ligase

MIM:617201

NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540

NEK1

NIMA related kinase 1

MIM:263520

NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632

NEK9

NIMA related kinase 9

MIM:614262 MIM:617022

NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344

NEUROD2

neuronal differentiation 2

NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777

NF1

neurofibromin 1

MIM:162200 ORPHA:363700

NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116

NFIX

nuclear factor I X

MIM:602535 ORPHA:447980

NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796

NIPA1

NIPA magnesium transporter 1

NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789

NIPA2

NIPA magnesium transporter 2

NCBI chr15:22,838,666...22,868,384
Ensembl chr15:22,838,644...22,869,362

NIPBL

NIPBL cohesin loading factor

MIM:122470 ORPHA:199

NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413

NKAP

NFKB activating protein

MIM:301039

NCBI chr X:119,920,672...119,943,751
Ensembl chr X:119,920,672...119,943,751

NKX2-1

NK2 homeobox 1

MIM:610978 ORPHA:209905

NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149

NKX2-5

NK2 homeobox 5

MIM:108900 MIM:614432 MIM:614435, RGD:1581133

DNA:missense mutations:cds:multiple

HPO
RGD

PMID:11714651

NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311

NKX2-6

NK2 homeobox 6

susceptibility

ORPHA:3384, RGD:155882444

DNA:missense mutation:CDS:p.K152Q

HPO
RGD

PMID:25380965

NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756

NODAL

nodal growth differentiation factor

MIM:270100

NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951

NONO

non-POU domain containing octamer binding

MIM:300967 ORPHA:466791

NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522

notch receptor 1

NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048

notch receptor 2

NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779

NOTCH3

notch receptor 3

MIM:130720 ORPHA:2789

NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995

NR2F2

nuclear receptor subfamily 2 group F member 2

MIM:615779 MIM:618901

NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263

nuclear receptor binding SET domain protein 1

MIM:117550 ORPHA:821

NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213

NSD2

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Ventricular septal defect

NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207

NUP107

nucleoporin 107

MIM:616730 MIM:618348

NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809

nucleoredoxin

NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776

ODAD1

outer dynein arm docking complex subunit 1

MIM:615067

NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971

ODAD3

outer dynein arm docking complex subunit 3

MIM:616037

NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782

OTU deubiquitinase 5

NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386

OTUD6B

OTU deubiquitinase 6B

MIM:617452 ORPHA:505237

NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095

phosphofurin acidic cluster sorting protein 1

ORPHA:329224

NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744

PACS2

phosphofurin acidic cluster sorting protein 2

MIM:618067

NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147

PAH

phenylalanine hydroxylase

ORPHA:2209

NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410

PALB2

partner and localizer of BRCA2

MIM:610832

NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321

PDHA1

pyruvate dehydrogenase E1 subunit alpha 1

ORPHA:79243

NCBI chr X:19,343,927...19,361,718
Ensembl chr X:19,343,893...19,361,718

PEX1

peroxisomal biogenesis factor 1

MIM:214100 ORPHA:912

NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520

PEX10

peroxisomal biogenesis factor 10

NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797

PEX11B

peroxisomal biogenesis factor 11 beta

NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717

PEX12

peroxisomal biogenesis factor 12

NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863

PEX13

peroxisomal biogenesis factor 13

NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990

PEX14

peroxisomal biogenesis factor 14

NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758

PEX16

peroxisomal biogenesis factor 16

MIM:614876 ORPHA:912

NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812

PEX19

peroxisomal biogenesis factor 19

NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348

PEX2

peroxisomal biogenesis factor 2

MIM:614866 ORPHA:912

NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044

PEX26

peroxisomal biogenesis factor 26

NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396

PEX3

peroxisomal biogenesis factor 3

NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616

PEX5

peroxisomal biogenesis factor 5

NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574

PEX6

peroxisomal biogenesis factor 6

NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181

phosphoglucomutase 1

NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245

PHGDH

phosphoglycerate dehydrogenase

MIM:256520

NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218

PI4KA

phosphatidylinositol 4-kinase alpha

ORPHA:436252

NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417

PIEZO2

piezo type mechanosensitive ion channel component 2

ORPHA:2461

NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569

PIGL

phosphatidylinositol glycan anchor biosynthesis class L

MIM:280000 ORPHA:3474

NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797

PIGP

phosphatidylinositol glycan anchor biosynthesis class P

NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170

PIGQ

phosphatidylinositol glycan anchor biosynthesis class Q

NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

MIM:602501

NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093

PIK3R2

phosphoinositide-3-kinase regulatory subunit 2

MIM:603387 ORPHA:83473

NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540

PKD1L1

polycystin 1 like 1, transient receptor potential channel interacting

MIM:617205

NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466

PLAGL1

PLAG1 like zinc finger 1

ORPHA:96191

NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599

PLCH1

phospholipase C eta 1

MIM:619895

NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071

phospholipase D1

NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950

plexin D1

NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676

PNKP

polynucleotide kinase 3'-phosphatase

NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351

POLA1

DNA polymerase alpha 1, catalytic subunit

MIM:301030

NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986

RNA polymerase I subunit A

MIM:616462

NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155

PORCN

porcupine O-acyltransferase

ORPHA:2092

NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814

PPFIBP1

PPFIA binding protein 1

MIM:620024

NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564

PPM1D

protein phosphatase, Mg2+/Mn2+ dependent 1D

MIM:617450

NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,600,193...60,666,280

PPP1CB

protein phosphatase 1 catalytic subunit beta

MIM:617506

NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940

PPP1R13L

protein phosphatase 1 regulatory subunit 13 like

MIM:620519

NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349

PPP2R5D

protein phosphatase 2 regulatory subunit B'delta

ORPHA:457279

NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342

PQBP1

polyglutamine binding protein 1

MIM:309500

NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402

PR/SET domain 13

NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578

protein kinase cAMP-activated catalytic subunit alpha

NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084

PRKACB

protein kinase cAMP-activated catalytic subunit beta

NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498

PSMD12

proteasome 26S subunit, non-ATPase 12

MIM:617516

NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605

protein tyrosine phosphatase non-receptor type 11

susceptibility

DNA:snp:intron:c.757-4333A>G (rs11066320)

HPO
RGD

PMID:22503907

MIM:163950, RGD:12743641

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

poly(U) binding splicing factor 60

MIM:615583 ORPHA:508488 ORPHA:508498

NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709

RAB23

RAB23, member RAS oncogene family

MIM:201000

NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307

RAB34

RAB34, member RAS oncogene family

MIM:620718

NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429

RAC1

Rac family small GTPase 1

MIM:617751 ORPHA:500159

NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967

RAD21

RAD21 cohesin complex component

NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776

RAI1

retinoic acid induced 1

ORPHA:477817

NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453

RAP1B

RAP1B, member of RAS oncogene family

MIM:620654

NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901

RARB

retinoic acid receptor beta

MIM:615524

NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932

RNA binding motif protein 8A

MIM:274000

NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678

RERE

arginine-glutamic acid dipeptide repeats

MIM:616975 ORPHA:494344

NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921

RFC2

replication factor C subunit 2

NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458

regulatory factor X7

NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082

RIT1

Ras like without CAAX 1

MIM:615355

NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404

RNF113A

ring finger protein 113A

NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733

RNU4-2

RNA, U4 small nuclear 2

MIM:620851

NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903

RNA, U4atac small nuclear

MIM:210710 MIM:616651

NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007

ROR2

receptor tyrosine kinase like orphan receptor 2

MIM:113000 ORPHA:1507

NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228

RPL10

ribosomal protein L10

MIM:300998 ORPHA:459070

NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168

RPL11

ribosomal protein L11

MIM:612562 ORPHA:124

NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835

RPL15

ribosomal protein L15

MIM:615550 ORPHA:124

NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374

RPL18

ribosomal protein L18

NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184

RPL26

ribosomal protein L26

NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213

RPL27

ribosomal protein L27

NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959

RPL31

ribosomal protein L31

NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032

RPL35

ribosomal protein L35

NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981

RPL35A

ribosomal protein L35a

MIM:612528 ORPHA:124

NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610

ribosomal protein L5

NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924

ribosomal protein L8

NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587

ribosomal protein L9

NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931

RPS10

ribosomal protein S10

NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069

RPS15A

ribosomal protein S15a

NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383

RPS17

ribosomal protein S17

NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459

RPS19

ribosomal protein S19

MIM:105650 ORPHA:124

NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925

RPS20

ribosomal protein S20

NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510

RPS24

ribosomal protein S24

NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813

RPS26

ribosomal protein S26

MIM:613309 ORPHA:124

NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697

RPS27

ribosomal protein S27

NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155

RPS28

ribosomal protein S28

NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340

RPS29

ribosomal protein S29

NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164

ribosomal protein S7

NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920

RRAGC

Ras related GTP binding C

MIM:620609

NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772

RAS related 2

NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506

RREB1

ras responsive element binding protein 1

NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980

R-spondin 2

NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642

RTL1

retrotransposon Gag like 1

ORPHA:254534 ORPHA:96334

NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722

RYR1

ryanodine receptor 1

ClinVar Annotator: match by term: Ventricular septal defect

PMID:16835904 PMID:24033266 PMID:25741868

MIM:619542

NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273

SALL1

spalt like transcription factor 1

MIM:107480

NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334

SALL4

spalt like transcription factor 4

DNA:missense mutations:cds:p.R196W, p.S797C

HPO
RGD

PMID:19619907

MIM:607323, RGD:11556206

NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521

SATB homeobox 1

NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621

SATB homeobox 2

NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266

SCAF4

SR-related CTD associated factor 4

MIM:620511

NCBI chr21:31,671,000...31,732,118
Ensembl chr21:31,671,000...31,732,118

SCN1B

sodium voltage-gated channel beta subunit 1

NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449

SCN2A

sodium voltage-gated channel alpha subunit 2

NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310

SEC24C

SEC24 homolog C, COPII coat complex component

NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161

SETD5

SET domain containing 5

ORPHA:404440

NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240

SF3B2

splicing factor 3b subunit 2

MIM:164210

NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308

SF3B4

splicing factor 3b subunit 4

MIM:154400

NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803

SH3 and PX domains 2B

NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525

SHANK3

SH3 and multiple ankyrin repeat domains 3

MIM:606232

NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212

SHOC2

SHOC2 leucine rich repeat scaffold protein

MIM:607721

NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307

SIK1

salt inducible kinase 1

NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131

SIX homeobox 6

NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850

SKIC2

SKI2 subunit of superkiller complex

ORPHA:84064

NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818

SKIC3

SKI3 subunit of superkiller complex

MIM:222470 ORPHA:84064

NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050

SLC12A2

solute carrier family 12 member 2

MIM:619083

NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677

SLC19A2

solute carrier family 19 member 2

MIM:249270 ORPHA:49827

NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944

SLC25A22

solute carrier family 25 member 22

NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281

SLC29A3

solute carrier family 29 member 3

MIM:602782 ORPHA:1782

NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423

SLC32A1

solute carrier family 32 member 1

NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372

SLC37A4

solute carrier family 37 member 4

MIM:619525

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

SLF2

SMC5-SMC6 complex localization factor 2

MIM:620184

NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134

SMAD family member 2

NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146

SMAD family member 4

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045

SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: Ventricular septal defect

MIM:614609 ORPHA:1465

NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426

SMARCB1

SWI/SNF related BAF chromatin remodeling complex subunit B1

NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009

SMARCC2

SWI/SNF related BAF chromatin remodeling complex subunit C2

NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567

SMARCD1

SWI/SNF related BAF chromatin remodeling complex subunit D1

NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707

SMARCE1

SWI/SNF related BAF chromatin remodeling complex subunit E1

NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654

SMC1A

structural maintenance of chromosomes 1A

MIM:301044 ORPHA:199

NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728

SMC3

structural maintenance of chromosomes 3

MIM:610759 ORPHA:199

NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048

SMG8

SMG8 nonsense mediated mRNA decay factor

MIM:619268

NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239

SMG9

SMG9 nonsense mediated mRNA decay factor

MIM:616920 MIM:619995

NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962

SMN1

survival of motor neuron 1, telomeric

MIM:253300

NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942

SNRPB

small nuclear ribonucleoprotein polypeptides B and B1

MIM:117650 ORPHA:1393

NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853

SON

SON DNA and RNA binding protein

MIM:617140

NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

MIM:610733

NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345

SOS2

SOS Ras/Rho guanine nucleotide exchange factor 2

MIM:616559

NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578

SOX11

SRY-box transcription factor 11

NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385

SOX2

SRY-box transcription factor 2

MIM:206900 ORPHA:77298

NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436

SOX4

SRY-box transcription factor 4

MIM:618506 ORPHA:1465

NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619

SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like

MIM:145420 ORPHA:1519

NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739

SPEN

spen family transcriptional repressor

MIM:619312

NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456

SPTBN1

spectrin beta, non-erythrocytic 1

MIM:619475

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446

STAG1

STAG1 cohesin complex component

MIM:617635

NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403

STAG2

STAG2 cohesin complex component

MIM:301043

NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664

STAM binding protein

NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659

STRA6

signaling receptor and transporter of retinol STRA6

MIM:601186

NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267

syntaxin 1A

NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672

syntaxin 5

NCBI chr11:62,806,860...62,832,051
Ensembl chr11:62,806,860...62,832,051

TAB2

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

MIM:614980

NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613

TAF6

TATA-box binding protein associated factor 6

NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841

transaldolase 1

NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012

TAO kinase 1

NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903

TAPT1

transmembrane anterior posterior transformation 1

MIM:616897

NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410

TARS1

threonyl-tRNA synthetase 1

NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091

taspase 1

NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932

TBC1D24

TBC1 domain family member 24

MIM:220500

NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671

TBCK

TBC1 domain containing kinase

ORPHA:488632

NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683

TBL2

transducin beta like 2

NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791

TBX1

T-box transcription factor 1

MIM:188400 MIM:192430 ORPHA:1727 ORPHA:3384 ORPHA:567, RGD:155631302

DNA:SNP:promoter:g.4199C>T

HPO
RGD

PMID:22801995

NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593

TBX3

T-box transcription factor 3

MIM:181450 ORPHA:3138

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

T-box transcription factor 5

MIM:142900 ORPHA:392

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

TCF21

transcription factor 21

susceptibility

DNA:SNPs:3'UTR: (rs12190287) (human)

RGD

PMID:28346832

RGD:329337362

NCBI chr 6:133,889,113...133,895,537
Ensembl chr 6:133,889,113...133,895,553

TCIRG1

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

ORPHA:1782

NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895

TCTN3

tectonic family member 3

MIM:614815

NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143

TET3

tet methylcytosine dioxygenase 3

MIM:618798

NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,177

TFAP2B

transcription factor AP-2 beta

ORPHA:46627

NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619

TGDS

TDP-glucose 4,6-dehydratase

MIM:616145 ORPHA:1388

NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242

TGFB3

transforming growth factor beta 3

MIM:615582

NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011

THO complex subunit 6

MIM:613680

NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755

TIAM1

TIAM Rac1 associated GEF 1

MIM:619908

NCBI chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977

TKT

transketolase

MIM:617044 ORPHA:488618

NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052

TMEM237

transmembrane protein 237

MIM:614424

NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570

TMEM260

transmembrane protein 260

MIM:617478

NCBI chr14:56,579,525...56,663,165
Ensembl chr14:56,488,354...56,650,606

TMEM270

transmembrane protein 270

NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890

TMEM53

transmembrane protein 53

MIM:619727

NCBI chr 1:44,653,247...44,674,481
Ensembl chr 1:44,635,238...44,674,481

TMEM94

transmembrane protein 94

MIM:618316

NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452

TNFRSF11A

TNF receptor superfamily member 11a

ORPHA:1782

NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

TPR

translocated promoter region, nuclear basket protein

MIM:620393

NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693

TRAF7

TNF receptor associated factor 7

MIM:618164

NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129

TRAIP

TRAF interacting protein

MIM:616777

NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574

TRIM8

tripartite motif containing 8

NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789

TRIO

trio Rho guanine nucleotide exchange factor

MIM:617061

NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128

TRRAP

transformation/transcription domain associated protein

MIM:618454

NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831

TSR2

TSR2 ribosome maturation factor

NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032

TTC7A

tetratricopeptide repeat domain 7A

MIM:243150 ORPHA:436252

NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137

tubulin gamma 1

NCBI chr17:42,609,683...42,615,238
Ensembl chr17:42,609,641...42,615,238

thioredoxin like 4A

NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949

UBE2A

ubiquitin conjugating enzyme E2 A

ORPHA:163956

NCBI chr X:119,574,563...119,584,423
Ensembl chr X:119,474,802...119,591,083

UBE3B

ubiquitin protein ligase E3B

MIM:244450

NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705

UBR1

ubiquitin protein ligase E3 component n-recognin 1

MIM:243800

NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113

UBR7

ubiquitin protein ligase E3 component n-recognin 7

MIM:619189

NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215

UFD1

ubiquitin recognition factor in ER associated degradation 1

NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202

UMPS

uridine monophosphate synthetase

MIM:258900

NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273

UQCRFS1

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

MIM:618775

NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151

VAC14

VAC14 component of PIKFYVE complex

ORPHA:3472

NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160

VIPAS39

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

MIM:613404

NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952

VPS13B

vacuolar protein sorting 13 homolog B

ORPHA:193

NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580

VPS33B

VPS33B late endosome and lysosome associated

MIM:208085

NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603

VPS35L

VPS35 endosomal protein sorting factor like

NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793

VPS37D

VPS37D subunit of ESCRT-I

NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112

WAC

WW domain containing adaptor with coiled-coil

ORPHA:284169

NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112

WASHC5

WASH complex subunit 5

MIM:220210 ORPHA:7

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

WBP4

WW domain binding protein 4

MIM:620852

NCBI chr13:41,061,509...41,084,006
Ensembl chr13:41,061,509...41,084,006

WDR26

WD repeat domain 26

MIM:617616 ORPHA:513456

NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033

WD repeat domain 37

NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991

WNT4

Wnt family member 4

MIM:611812 ORPHA:139466

NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969

WT1

WT1 transcription factor

MIM:608978 ORPHA:3097

NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564

xylosyltransferase 1

NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960

xylosyltransferase 2

NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138

YARS1

tyrosyl-tRNA synthetase 1

MIM:619418

NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031

YY1AP1

YY1 associated protein 1

ORPHA:79094

NCBI chr 1:155,659,442...155,688,996
Ensembl chr 1:155,659,446...155,689,334

ZBTB7A

zinc finger and BTB domain containing 7A

MIM:619769

NCBI chr19:4,043,303...4,066,899
Ensembl chr19:4,043,303...4,066,899

ZEB2

zinc finger E-box binding homeobox 2

MIM:235730 ORPHA:261552

NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057

ZFX

zinc finger protein X-linked

MIM:301118

NCBI chr X:24,148,982...24,216,255
Ensembl chr X:24,149,173...24,216,255

Zic family member 3

NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691

ZMYM2

zinc finger MYM-type containing 2

MIM:619522

NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829

ZNF462

zinc finger protein 462

MIM:618619

NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634

ZNF699

zinc finger protein 699

MIM:619488

NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838

Ventricular septal hypertrophy

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

alpha kinase 3

NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479

BSCL2

BSCL2 lipid droplet biogenesis associated, seipin

MIM:269700

NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845

CSRP3

cysteine and glycine rich protein 3

MIM:612124

NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571

galactosidase alpha

NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012

glycogenin 1

NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775

LEMD2

LEM domain nuclear envelope protein 2

MIM:619322

NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130

MAP2K2

mitogen-activated protein kinase kinase 2

MIM:615280

NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122

MTFMT

mitochondrial methionyl-tRNA formyltransferase

MIM:614947

NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639

MYBPC3

myosin binding protein C3

MIM:115197

NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702

myosin light chain 2

NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434

myopalladin

NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017

SYNE1

spectrin repeat containing nuclear envelope protein 1

MIM:612998

NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801

TNNT2

troponin T2, cardiac type