Abnormality of cardiovascular system morphology - Ontology Report

OMIM:614583

NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847

ACTG2

actin gamma 2, smooth muscle

ORPHA:2604

NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865

ADNP

activity dependent neuroprotector homeobox

ORPHA:404448

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

ANOS1

anosmin 1

ORPHA:478

NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137

ARID1A

AT-rich interaction domain 1A

OMIM:614607

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

ARID1B

AT-rich interaction domain 1B

ORPHA:251056

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

ARNT2

aryl hydrocarbon receptor nuclear translocator 2

ORPHA:3157

NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933

ATP6V1B2

ATPase H+ transporting V1 subunit B2

ORPHA:3473

NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819

B3GALT6

beta-1,3-galactosyltransferase 6

ORPHA:2725

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

BBS12

Bardet-Biedl syndrome 12

ClinVar Annotator: match by term: Cardiovascular malformations

PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526

NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942

BCOR

BCL6 corepressor

ORPHA:568

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

CC2D2A

coiled-coil and C2 domain containing 2A

ORPHA:2318

NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552

CCDC141

coiled-coil domain containing 141

ORPHA:478

NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137

CD96

CD96 molecule

ORPHA:1308

NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750

CEP290

centrosomal protein 290

ORPHA:2318

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

CHD7

chromodomain helicase DNA binding protein 7

ORPHA:478

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

CHN1

chimerin 1

ORPHA:233

NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381

CHRNA7

cholinergic receptor nicotinic alpha 7 subunit

OMIM:612001 ORPHA:199318

NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018

CHST3

carbohydrate sulfotransferase 3

ORPHA:263463

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

CTNND2

catenin delta 2

ORPHA:281

NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446

DCC

DCC netrin 1 receptor

ORPHA:478

NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,903

DEAF1

DEAF1 transcription factor

ORPHA:819

NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118

DHODH

dihydroorotate dehydrogenase (quinone)

ORPHA:246

NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664

DHX37

DEAH-box helicase 37

ORPHA:251510

NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131

DLX5

distal-less homeobox 5

OMIM:183600

NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950

DMRT3

doublesex and mab-3 related transcription factor 3

ORPHA:251510

NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732

DNAH9

dynein axonemal heavy chain 9

ClinVar Annotator: match by term: Cardiovascular malformations
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology

PMID:25741868 PMID:28492532 PMID:30471718

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

DNMT3B

DNA methyltransferase 3 beta

ORPHA:269

NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359

DUSP6

dual specificity phosphatase 6

ORPHA:478

NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501

DUX4

double homeobox 4

ORPHA:269

NCBI chr 4:190,173,774...190,185,911
Ensembl chr 4:190,173,774...190,185,942

DYNC2H1

dynein cytoplasmic 2 heavy chain 1

ORPHA:93271

NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863

DYNC2I1

dynein 2 intermediate chain 1

ORPHA:93271

NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747

DYNC2I2

dynein 2 intermediate chain 2

ORPHA:93271

NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847

EED

embryonic ectoderm development

ORPHA:3447

NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,244,753...86,278,813

EMG1

EMG1 N1-specific pseudouridine methyltransferase

ORPHA:1270

NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,997,428

ERGIC1

endoplasmic reticulum-golgi intermediate compartment 1

OMIM:208100

NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

ORPHA:3103

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

EXT1

exostosin glycosyltransferase 1

ORPHA:502

NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826

EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit

ORPHA:3447

NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321

FA complementation group A

OMIM:227650

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

FA complementation group B

OMIM:314390

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

FA complementation group E

OMIM:600901

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

FA complementation group I

OMIM:609053

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

FEZF1

FEZ family zinc finger 1

ORPHA:478

NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691

FGD1

FYVE, RhoGEF and PH domain containing 1

ORPHA:915

NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234

FGF17

fibroblast growth factor 17

ORPHA:478

NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809

FGF20

fibroblast growth factor 20

ORPHA:1848

NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345

FGF8

fibroblast growth factor 8

ORPHA:478

NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371

FGFR1

fibroblast growth factor receptor 1

OMIM:147950 ORPHA:3157 ORPHA:478

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

FGFR2

fibroblast growth factor receptor 2

OMIM:101400 ORPHA:794 ORPHA:87

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

FGFR3

fibroblast growth factor receptor 3

ORPHA:794

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

FLII

FLII actin remodeling protein

ORPHA:819

NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738

filamin A

ORPHA:75497

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

FLRT3

fibronectin leucine rich transmembrane protein 3

ORPHA:478

NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614

FOXC1

forkhead box C1

ORPHA:782

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

FRAS1

Fraser extracellular matrix complex subunit 1

ORPHA:2052

NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269

FREM2

FRAS1 related extracellular matrix 2

ORPHA:2052

NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131

FRG1

FSHD region gene 1

ORPHA:269

NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,870...189,963,202

FUZ

fuzzy planar cell polarity protein

ORPHA:3027

NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376

GATA4

GATA binding protein 4

ORPHA:251510

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

GATA6

GATA binding protein 6

PMID:22158542 PMID:24385578

ORPHA:2140
ClinVar Annotator: match by term: Cardiovascular malformations

HPO
ClinVar

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

GDF6

growth differentiation factor 6

OMIM:118100

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:317

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

GJB3

gap junction protein beta 3

ORPHA:317

NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369

GJB4

gap junction protein beta 4

ORPHA:317

NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327

GNAQ

G protein subunit alpha q

ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology

PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More...

NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811

GPC4

glypican 4

ORPHA:2662

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

GPC6

glypican 6

ORPHA:93329

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

GREB1L

GREB1 like retinoic acid receptor coactivator

ORPHA:1848

NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112

GRIP1

glutamate receptor interacting protein 1

ORPHA:2052

NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162

H19

H19 imprinted maternally expressed transcript

ORPHA:2128

NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,171...2,001,470

HESX1

HESX homeobox 1

ORPHA:3157 ORPHA:478

NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606

HS6ST1

heparan sulfate 6-O-sulfotransferase 1

ORPHA:478

NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868

HYLS1

HYLS1 centriolar and ciliogenesis associated

ORPHA:2189

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

IFT80

intraflagellar transport 80

ORPHA:93271

NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880

IGF2

insulin like growth factor 2

ORPHA:2128

NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391

IL17RD

interleukin 17 receptor D

ORPHA:478

NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306

IQSEC2

IQ motif and Sec7 domain ArfGEF 2

ORPHA:819

NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350

ITGA8

integrin subunit alpha 8

ORPHA:1848

NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922

KCNH1

potassium voltage-gated channel subfamily H member 1

ORPHA:3473

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

KCNN3

potassium calcium-activated channel subfamily N member 3

ORPHA:3473

NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281

KCNQ1OT1

KCNQ1 opposite strand/antisense transcript 1

ORPHA:2128

NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994

KDSR

3-ketodihydrosphingosine reductase

ORPHA:317

NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228

KIF7

kinesin family member 7

OMIM:200990 ORPHA:2189

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

KLF13

Kruppel like factor 13

OMIM:612001

NCBI chr15:31,326,835...31,435,665
Ensembl chr15:31,326,835...31,435,665

KRAS

KRAS proto-oncogene, GTPase

ORPHA:3339

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

LIG4

DNA ligase 4

ORPHA:235

NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368

LIPT1

lipoyltransferase 1

ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology

PMID:25741868 PMID:28492532

NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157

LONP1

lon peptidase 1, mitochondrial

ORPHA:2140

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

LRP5

LDL receptor related protein 5

ORPHA:2788

NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275

MAFB

MAF bZIP transcription factor B

ORPHA:233

NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236

MAP3K1

mitogen-activated protein kinase kinase kinase 1

ORPHA:251510

NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152

MEFV

MEFV innate immuity regulator, pyrin

ClinVar Annotator: match by term: Cardiovascular malformations

PMID:9668175 PMID:10090880 PMID:10611954 PMID:10612841 PMID:10787450 More...

NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633

MID1

midline 1

OMIM:300000

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

MITD1

microtubule interacting and trafficking domain containing 1

ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology

PMID:25741868 PMID:28492532

NCBI chr 2:99,161,427...99,181,058
Ensembl chr 2:99,161,427...99,181,058

MKKS

MKKS centrosomal shuttling protein

OMIM:236700

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

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

ORPHA:568

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

NDNF

neuron derived neurotrophic factor

ORPHA:478

NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021

NFIX

nuclear factor I X

ORPHA:561

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

NK2 homeobox 5

ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology
ClinVar Annotator: match by term: Cardiovascular malformations

PMID:18414213 PMID:19181906 PMID:28492532

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

NPHP1

nephrocystin 1

ORPHA:220497

NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066

NR0B1

nuclear receptor subfamily 0 group B member 1

ORPHA:251510

NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390

NR5A1

nuclear receptor subfamily 5 group A member 1

ORPHA:251510

NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420

NSD1

nuclear receptor binding SET domain protein 1

susceptibility

associated with Sotos Syndrome;DNA:mutations:cds:
ORPHA:3447

HPO
RGD

PMID:15452385

RGD:11570546

NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213

NSDHL

NAD(P) dependent steroid dehydrogenase-like

OMIM:308050

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

NSUN2

NOP2/Sun RNA methyltransferase 2

ORPHA:235

NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291

OTX2

orthodenticle homeobox 2

ORPHA:3157

NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693

PAX3

paired box 3

ORPHA:894

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

PEX5

peroxisomal biogenesis factor 5

OMIM:214110

NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574

PIK3CA

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

ClinVar Annotator: match by term: Cardiovascular malformations
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

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

PITX2

paired like homeodomain 2

ORPHA:782

NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123

PNPLA6

patatin like phospholipase domain containing 6

ORPHA:2377

NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764

POLR3A

RNA polymerase III subunit A

OMIM:264090

NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,975,149...78,029,515

PROK2

prokineticin 2

ORPHA:478

NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206

PROKR2

prokineticin receptor 2

ORPHA:3157 ORPHA:478

NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954

PTEN

phosphatase and tensin homolog

ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology

PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 More...

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

PTPN11

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Cardiovascular malformations
ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology

PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 More...

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

RAI1

retinoic acid induced 1

OMIM:182290 ORPHA:1713 ORPHA:819

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

RARB

retinoic acid receptor beta

ORPHA:2470

NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932

RB1

RB transcriptional corepressor 1

ORPHA:1587

NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436

RBM10

RNA binding motif protein 10

OMIM:311900

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

RECQL4

RecQ like helicase 4

OMIM:218600

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

RET

ret proto-oncogene

ORPHA:1848

NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351

RIPK4

receptor interacting serine/threonine kinase 4

ORPHA:1234

NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089

RPGRIP1L

RPGRIP1 like

ORPHA:220497

NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938

RPS6KA3

ribosomal protein S6 kinase A3

ORPHA:276630

NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519

SALL4

spalt like transcription factor 4

ORPHA:233

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

SEMA3A

semaphorin 3A

ORPHA:478

NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724

SEMA5A

semaphorin 5A

ORPHA:281

NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075

SF3B4

splicing factor 3b subunit 4

ORPHA:1788 ORPHA:245

NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803

SIN3A

SIN3 transcription regulator family member A

OMIM:613406

NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842

SLC26A2

solute carrier family 26 member 2

ORPHA:93298

NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455

SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

ORPHA:3051

NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624

SMARCA4

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

OMIM:614609

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

SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

OMIM:614608

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

SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1

ORPHA:269

NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017

SMG9

SMG9 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology

PMID:27018474

NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962

SMO

smoothened, frizzled class receptor

OMIM:241800

NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545

SOX10

SRY-box transcription factor 10

ORPHA:478

NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422

SOX2

SRY-box transcription factor 2

ORPHA:3157

NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436

SOX3

SRY-box transcription factor 3

ORPHA:3157

NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069

SOX9

SRY-box transcription factor 9

ORPHA:140 ORPHA:251510

NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416

SP7

Sp7 transcription factor

OMIM:613849

NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315

SPRY4

sprouty RTK signaling antagonist 4

ORPHA:478

NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455

SRD5A3

steroid 5 alpha-reductase 3

ORPHA:324737

NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100

SRY

sex determining region Y

ORPHA:251510

NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682

STRA6

signaling receptor and transporter of retinol STRA6

ORPHA:2470

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

SUZ12

SUZ12 polycomb repressive complex 2 subunit

ORPHA:3447

NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038

TACR3

tachykinin receptor 3

ORPHA:478

NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985

TBX6

T-box transcription factor 6

ORPHA:1797

NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924

TCTN3

tectonic family member 3

ORPHA:2753

NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143

TEK

TEK receptor tyrosine kinase

ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology
ClinVar Annotator: match by term: Cardiovascular malformations

PMID:7783168 PMID:7833915 PMID:8980225 PMID:10369874 PMID:19888299 More...

NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174

TMEM138

transmembrane protein 138

ORPHA:2318

NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890

TMEM216

transmembrane protein 216

ORPHA:2318

NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866

TMEM231

transmembrane protein 231

ORPHA:2318

NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289

TMEM237

transmembrane protein 237

ORPHA:220497 ORPHA:2318

NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570

TRIP11

thyroid hormone receptor interactor 11

ORPHA:93299

NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896

TRPS1

transcriptional repressor GATA binding 1

ORPHA:502

NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673

TUBB

tubulin beta class I

OMIM:156610

NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538

TWIST1

twist family bHLH transcription factor 1

OMIM:101400 ORPHA:794

NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636

UBE3A

ubiquitin protein ligase E3A

ORPHA:238446

NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051

VAMP7

vesicle associated membrane protein 7

ORPHA:251510

NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  X:155,881,345...155,943,769

VANGL1

VANGL planar cell polarity protein 1

ORPHA:3027

NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224

WDR11

WD repeat domain 11

ORPHA:478

NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524

WDR35

WD repeat domain 35

ORPHA:93271

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

WNT9B

Wnt family member 9B

ORPHA:1848

NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730

WT1

WT1 transcription factor

ORPHA:251510

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

WWOX

WW domain containing oxidoreductase

ORPHA:251510

NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667

ZFPM2

zinc finger protein, FOG family member 2

ORPHA:2140 ORPHA:251510

NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539

ZIC3

Zic family member 3

OMIM:314390

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

ZNF423

zinc finger protein 423

ORPHA:2318

NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919

Abdominal aortic aneurysm

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACTA2

actin alpha 2, smooth muscle

ORPHA:91387

NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339

ELN

elastin

ORPHA:91387

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

FBN1

fibrillin 1

ORPHA:91387

NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721

FOXE3

forkhead box E3

ORPHA:91387

NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052

HEY2

hes related family bHLH transcription factor with YRPW motif 2

ORPHA:91387

NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269

HLA-B

major histocompatibility complex, class I, B

ORPHA:397

NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067

HLA-DRB1

major histocompatibility complex, class II, DR beta 1

ORPHA:397

NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848

LOX

lysyl oxidase

OMIM:617168 ORPHA:91387

NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413

MAT2A

methionine adenosyltransferase 2A

ORPHA:91387

NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281

MFAP5

microfibril associated protein 5

ORPHA:91387

NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888

MTHFR

methylenetetrahydrofolate reductase

DNA:transition:cds:g.677C>T

RGD

PMID:17398378

RGD:6893584

NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455

MYH11

myosin heavy chain 11

ORPHA:91387

NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028

MYLK

myosin light chain kinase

ORPHA:91387

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

NSMCE2

NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase

OMIM:617253

NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120

P4HA2

prolyl 4-hydroxylase subunit alpha 2

ORPHA:397

NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315

PRKG1

protein kinase cGMP-dependent 1

OMIM:615436 ORPHA:91387

NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423

PTPN22

protein tyrosine phosphatase non-receptor type 22

ORPHA:397

NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753

SMAD2

SMAD family member 2

ORPHA:91387

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

SMAD3

SMAD family member 3

OMIM:613795 ORPHA:284984 ORPHA:91387

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

SMAD4

SMAD family member 4

ORPHA:91387

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045

TGFB2

transforming growth factor beta 2

ORPHA:91387

NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619

TGFB3

transforming growth factor beta 3

ORPHA:91387

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

TGFBR1

transforming growth factor beta receptor 1

ORPHA:91387

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

TGFBR2

transforming growth factor beta receptor 2

ORPHA:91387

NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142

Abnormal aortic arch morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ARVCF

ARVCF delta catenin family member

ORPHA:567

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

COMT

catechol-O-methyltransferase

ORPHA:567

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

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

GP1BB

glycoprotein Ib platelet subunit beta

ORPHA:567

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

HIRA

histone cell cycle regulator

ORPHA:567

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

JMJD1C

jumonji domain containing 1C

ORPHA:567

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

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

MEG3

maternally expressed 3

ORPHA:96334

NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031

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

RREB1

ras responsive element binding protein 1

ORPHA:567

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

SEC24C

SEC24 homolog C, COPII coat complex component

ORPHA:567

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

TBX1

T-box transcription factor 1

ORPHA:567

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

UFD1

ubiquitin recognition factor in ER associated degradation 1

ORPHA:567

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

Abnormal aortic morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BRCA1

BRCA1 DNA repair associated

ORPHA:84

NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245

BRCA2

BRCA2 DNA repair associated

ORPHA:84

NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268

BRIP1

BRCA1 interacting helicase 1

ORPHA:84

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

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

ORPHA:84

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

FA complementation group A

ORPHA:84

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

FA complementation group B

ORPHA:84

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

FANCC

FA complementation group C

ORPHA:84

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

FA complementation group D2

ORPHA:84

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

FA complementation group E

ORPHA:84

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

FANCF

FA complementation group F

ORPHA:84

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

FANCG

FA complementation group G

ORPHA:84

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

FA complementation group I

ORPHA:84

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

FANCL

FA complementation group L

ORPHA:84

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

FANCM

FA complementation group M

ORPHA:84

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

GATA4

GATA binding protein 4

ORPHA:251071

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

HDAC4

histone deacetylase 4

ORPHA:1001

NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654

IDS

iduronate 2-sulfatase

ORPHA:217093

NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096

LEMD3

LEM domain containing 3

ORPHA:1306

NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355

MAD2L2

mitotic arrest deficient 2 like 2

ORPHA:84

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,674,480...11,691,650

NXN

nucleoredoxin

ORPHA:1507

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

PALB2

partner and localizer of BRCA2

ORPHA:84

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

RAD51

RAD51 recombinase

ORPHA:84

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

RAD51 paralog C

ORPHA:84

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

RFWD3

ring finger and WD repeat domain 3

ORPHA:84

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

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

SLX4

SLX4 structure-specific endonuclease subunit

ORPHA:84

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

TBX5

T-box transcription factor 5

ORPHA:392

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

UBE2T

ubiquitin conjugating enzyme E2 T

ORPHA:84

NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980

XRCC2

X-ray repair cross complementing 2

ORPHA:84

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

Abnormal aortic valve morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACSL4

acyl-CoA synthetase long chain family member 4

ORPHA:86818

NCBI chr X:109,641,335...109,733,257
Ensembl chr X:109,624,244...109,733,403

AMMECR1

AMMECR nuclear protein 1

ORPHA:86818

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

ARVCF

ARVCF delta catenin family member

ORPHA:567

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

B-Raf proto-oncogene, serine/threonine kinase

OMIM:613707

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

BRCA1

BRCA1 DNA repair associated

ORPHA:84

NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245

BRCA2

BRCA2 DNA repair associated

ORPHA:84

NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268

BRIP1

BRCA1 interacting helicase 1

ORPHA:84

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

CHD7

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

CHRNG

cholinergic receptor nicotinic gamma subunit

ORPHA:2990

NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115

COMT

catechol-O-methyltransferase

ORPHA:567

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

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

ORPHA:84

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

FA complementation group A

ORPHA:84

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

FA complementation group B

ORPHA:84

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

FANCC

FA complementation group C

ORPHA:84

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

FA complementation group D2

ORPHA:84

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

FA complementation group E

ORPHA:84

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

FANCF

FA complementation group F

ORPHA:84

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

FANCG

FA complementation group G

ORPHA:84

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

FA complementation group I

ORPHA:84

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

FANCL

FA complementation group L

ORPHA:84

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

FANCM

FA complementation group M

ORPHA:84

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

FBN1

fibrillin 1

ORPHA:2462

NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721

GLA

galactosidase alpha

ORPHA:324

NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012

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

GP1BB

glycoprotein Ib platelet subunit beta

ORPHA:567

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

HIRA

histone cell cycle regulator

ORPHA:567

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

HLA-B

major histocompatibility complex, class I, B

ORPHA:3287

NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067

IL12B

interleukin 12B

ORPHA:3287

NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863

JMJD1C

jumonji domain containing 1C

ORPHA:567

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

KCNE5

potassium voltage-gated channel subfamily E regulatory subunit 5

ORPHA:86818

NCBI chr X:109,623,700...109,625,172
Ensembl chr X:109,623,700...109,625,172

MAD2L2

mitotic arrest deficient 2 like 2

ORPHA:84

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,674,480...11,691,650

MAP2K2

mitogen-activated protein kinase kinase 2

OMIM:615280

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

MLX

MAX dimerization protein MLX

ORPHA:3287

NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239

MMP21

matrix metallopeptidase 21

OMIM:616749

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

MYH3

myosin heavy chain 3

ORPHA:2990

NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309

PALB2

partner and localizer of BRCA2

ORPHA:84

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

RAD51

RAD51 recombinase

ORPHA:84

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

RAD51 paralog C

ORPHA:84

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

RFWD3

ring finger and WD repeat domain 3

ORPHA:84

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

RPS6KA3

ribosomal protein S6 kinase A3

ORPHA:192

NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519

RREB1

ras responsive element binding protein 1

ORPHA:567

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

SEC24C

SEC24 homolog C, COPII coat complex component

ORPHA:567

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

SEMA3E

semaphorin 3E

ORPHA:138

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

SH2B1

SH2B adaptor protein 1

ORPHA:261197

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

SKI

SKI proto-oncogene

ORPHA:2462

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

SLX4

SLX4 structure-specific endonuclease subunit

ORPHA:84

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

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Abnormality of the aortic valve

PMID:17143282 PMID:17586837 PMID:18854871 PMID:19352411 PMID:21340158 More...

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

TBX1

T-box transcription factor 1

ORPHA:567

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

TMEM70

transmembrane protein 70

ORPHA:1194

NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783

UBE2T

ubiquitin conjugating enzyme E2 T

ORPHA:84

NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980

UFD1

ubiquitin recognition factor in ER associated degradation 1

ORPHA:567

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

XRCC2

X-ray repair cross complementing 2

ORPHA:84

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

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

Abnormal cardiac septum morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AFF4

AF4/FMR2 family member 4

OMIM:616368

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

ALG8

ALG8 alpha-1,3-glucosyltransferase

OMIM:608104

NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660

ALG9

ALG9 alpha-1,2-mannosyltransferase

OMIM:608776

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

ASXL1

ASXL transcriptional regulator 1

ORPHA:97297

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

ATN1

atrophin 1

OMIM:618494

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

B3GLCT

beta 3-glucosyltransferase

ORPHA:709

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

BCOR

BCL6 corepressor

ORPHA:2712

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

CASZ1

castor zinc finger 1

ORPHA:1606

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

CCNQ

cyclin Q

ORPHA:140952

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

CDC42

cell division cycle 42

OMIM:616737

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

CHD7

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

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

DPF2

double PHD fingers 2

OMIM:618027

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

EHMT1

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

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

FUT8

fucosyltransferase 8

OMIM:618005

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

GABRD

gamma-aminobutyric acid type A receptor subunit delta

ORPHA:1606

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

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

HOXD13

homeobox D13

ORPHA:887

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

HSPG2

heparan sulfate proteoglycan 2

ORPHA:1606

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

ORPHA:1606

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

KDM6A

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

OMIM:200990

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

KMT2D

lysine methyltransferase 2D

ORPHA:2322

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

LUZP1

leucine zipper protein 1

ORPHA:1606

NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808

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

MED25

mediator complex subunit 25

OMIM:616449

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

MKS1

MKS transition zone complex subunit 1

OMIM:249000

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

MMP23B

matrix metallopeptidase 23B

ORPHA:1606

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

MYH7

myosin heavy chain 7

ORPHA:437572

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

MYMK

myomaker, myoblast fusion factor

OMIM:254940

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

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

NKX2-1

NK2 homeobox 1

OMIM:610978

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

NK2 homeobox 5

ORPHA:1479

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

NOTCH2

notch receptor 2

OMIM:102500

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

NSDHL

NAD(P) dependent steroid dehydrogenase-like

OMIM:308050

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

PACS1

phosphofurin acidic cluster sorting protein 1

OMIM:615009

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

PACS2

phosphofurin acidic cluster sorting protein 2

OMIM:618067

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

PDPN

podoplanin

ORPHA:1606

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

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

POLR1A

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

PPP2CA

protein phosphatase 2 catalytic subunit alpha

OMIM:618354

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

PRDM16

PR/SET domain 16

ORPHA:1606

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

PRKCZ

protein kinase C zeta

ORPHA:1606

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

PUF60

poly(U) binding splicing factor 60

OMIM:615583

NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352

RBM8A

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

RECQL4

RecQ like helicase 4

ORPHA:1225

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

RERE

arginine-glutamic acid dipeptide repeats

ORPHA:1606

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

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

ORPHA:175

NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017

SEMA3E

semaphorin 3E

ORPHA:138

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

SKI

SKI proto-oncogene

ORPHA:1606

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

SMAD4

SMAD family member 4

ORPHA:2588

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045

SPEN

spen family transcriptional repressor

ORPHA:1606

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

STAG2

stromal antigen 2

OMIM:301022

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

THPO

thrombopoietin

ORPHA:3319

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

TXNL4A

thioredoxin like 4A

ORPHA:1200

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

UBE4B

ubiquitination factor E4B

ORPHA:1606

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

Abnormal cardiac ventricle morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FBN1

fibrillin 1

ORPHA:284979

NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721

Abnormal cardiomyocyte morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

PNPLA2

patatin like phospholipase domain containing 2

ORPHA:565612

NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573

Abnormal carotid artery morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP7A

ATPase copper transporting alpha

ORPHA:565

NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395

BAZ1B

bromodomain adjacent to zinc finger domain 1B

ORPHA:904

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

BCL7B

BAF chromatin remodeling complex subunit BCL7B

ORPHA:904

NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690

BRCA1

BRCA1 DNA repair associated

ORPHA:84

NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245

BRCA2

BRCA2 DNA repair associated

ORPHA:84

NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268

BRIP1

BRCA1 interacting helicase 1

ORPHA:84

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

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

ORPHA:904

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161

CLIP2

CAP-Gly domain containing linker protein 2

ORPHA:904

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

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

ORPHA:904

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

EIF4H

eukaryotic translation initiation factor 4H

ORPHA:904

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

ELN

elastin

ORPHA:904

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

ORPHA:84

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

FA complementation group A

ORPHA:84

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

FA complementation group B

ORPHA:84

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

FANCC

FA complementation group C

ORPHA:84

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

FA complementation group D2

ORPHA:84

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

FA complementation group E

ORPHA:84

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

FANCF

FA complementation group F

ORPHA:84

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

FANCG

FA complementation group G

ORPHA:84

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

FA complementation group I

ORPHA:84

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

FANCL

FA complementation group L

ORPHA:84

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

FANCM

FA complementation group M

ORPHA:84

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

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

ORPHA:904

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

GTF2I

general transcription factor IIi

ORPHA:904

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

GTF2IRD1

GTF2I repeat domain containing 1

ORPHA:904

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

GTF2IRD2

GTF2I repeat domain containing 2

ORPHA:904

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

HOXA1

homeobox A1

DNA:insertion mutation: :175-176insG(human)

RGD

PMID:17875913

RGD:11553821

NCBI chr 7:27,092,993...27,096,000
Ensembl chr 7:27,092,993...27,096,000

LIMK1

LIM domain kinase 1

ORPHA:904

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

MAD2L2

mitotic arrest deficient 2 like 2

ORPHA:84

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,674,480...11,691,650

METTL27

methyltransferase like 27

ORPHA:904

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

MLXIPL

MLX interacting protein like

ORPHA:904

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

MT2A

metallothionein 2A

DNA:snp:5' utr:g.+838C>G

RGD

PMID:17622311

RGD:6483844

NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497

NCF1

neutrophil cytosolic factor 1

ORPHA:904

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

PALB2

partner and localizer of BRCA2

ORPHA:84

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

RAD51

RAD51 recombinase

ORPHA:84

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

RAD51 paralog C

ORPHA:84

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

RFC2

replication factor C subunit 2

ORPHA:904

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

ORPHA:84

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

SLC2A10

solute carrier family 2 member 10

ORPHA:3342

NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347

SLX4

SLX4 structure-specific endonuclease subunit

ORPHA:84

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

STX1A

syntaxin 1A

ORPHA:904

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

TBL2

transducin beta like 2

ORPHA:904

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

TMEM270

transmembrane protein 270

ORPHA:904

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

UBE2T

ubiquitin conjugating enzyme E2 T

ORPHA:84

NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980

VPS37D

VPS37D subunit of ESCRT-I

ORPHA:904

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

XRCC2

X-ray repair cross complementing 2

ORPHA:84

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

Abnormal cerebral artery morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

NDE1

nudE neurodevelopment protein 1

ORPHA:2177

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

Abnormal circle of Willis morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ANGPTL6

angiopoietin like 6

ORPHA:231160

NCBI chr19:10,092,338...10,106,190
Ensembl chr19:10,092,338...10,102,678

COL3A1

collagen type III alpha 1 chain

ORPHA:231160

NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746

ENG

endoglin

ORPHA:231160

NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658

TGFBR3

transforming growth factor beta receptor 3

ORPHA:231160

NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335

THSD1

thrombospondin type 1 domain containing 1

ORPHA:231160

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

Abnormal common carotid artery morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

SON

SON DNA and RNA binding protein

ORPHA:500150

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

Abnormal coronary artery course

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

TKT

transketolase

ORPHA:488618

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

Abnormal coronary artery morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADRB3

adrenoceptor beta 3

no_association

DNA:missense mutation:cds:p.W64R (rs4994)

RGD

PMID:11229427

RGD:5684412

NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599

APOA4

apolipoprotein A4

susceptibility
no_association

PMID:7958503 PMID:10428310

associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H
DNA:mutation:intron:IVS2

RGD

RGD:5685678, RGD:1578442

NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304

MTHFR

methylenetetrahydrofolate reductase

susceptibility

DNA:transition:cds:g.677C>T

RGD

PMID:12387655

RGD:6893453

NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455

PECAM1

platelet and endothelial cell adhesion molecule 1

no_association

PMID:10571959 PMID:10780329 PMID:15488875

DNA:missense mutations:cds:p.L125V, p.S563N
DNA:missense mutation:cds:p.L125V
DNA:missense mutation:cds:p.R643G

RGD

RGD:1598382, RGD:6771225, RGD:6771224

NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776

PLAT

plasminogen activator, tissue type

DNA:snp:enhancer:g.-7351C>T

RGD

PMID:11848437

RGD:1580881

NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709

SERPINE1

serpin family E member 1

susceptibility

DNA:deletion:promoter:g.-676_-674delG

RGD

PMID:12477941

RGD:1626626

NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247

Abnormal coronary artery origin

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LZTR1

leucine zipper like transcription regulator 1

OMIM:605275

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

Abnormal endocardium morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCC6

ATP binding cassette subfamily C member 6

ORPHA:758

NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522

BAZ1B

bromodomain adjacent to zinc finger domain 1B

ORPHA:904

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

BCL7B

BAF chromatin remodeling complex subunit BCL7B

ORPHA:904

NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690

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

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

ORPHA:904

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,025...73,705,161

CLEC7A

C-type lectin domain containing 7A

ORPHA:1334

NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258

CLIP2

CAP-Gly domain containing linker protein 2

ORPHA:904

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

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

ORPHA:904

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

EIF4H

eukaryotic translation initiation factor 4H

ORPHA:904

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

ELN

elastin

ORPHA:904

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

ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

ORPHA:758

NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

ORPHA:904

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

GLA

galactosidase alpha

ORPHA:324

NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012

GTF2I

general transcription factor IIi

ORPHA:904

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

GTF2IRD1

GTF2I repeat domain containing 1

ORPHA:904

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

GTF2IRD2

GTF2I repeat domain containing 2

ORPHA:904

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

HLA-B

major histocompatibility complex, class I, B

ORPHA:3287

NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067

IL12B

interleukin 12B

ORPHA:3287

NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863

IL17F

interleukin 17F

ORPHA:1334

NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,244,500

IL17RA

interleukin 17 receptor A

ORPHA:1334

NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693

IL17RC

interleukin 17 receptor C

ORPHA:1334

NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630

LIMK1

LIM domain kinase 1

ORPHA:904

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

METTL27

methyltransferase like 27

ORPHA:904

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

MLX

MAX dimerization protein MLX

ORPHA:3287

NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239

MLXIPL

MLX interacting protein like

ORPHA:904

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

MYH7

myosin heavy chain 7

ORPHA:1880

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

NCF1

neutrophil cytosolic factor 1

ORPHA:904

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

PTPN11

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

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

RFC2

replication factor C subunit 2

ORPHA:904

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

STX1A

syntaxin 1A

ORPHA:904

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

TBL2

transducin beta like 2

ORPHA:904

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

TMEM270

transmembrane protein 270

ORPHA:904

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

TRAF3IP2

TRAF3 interacting protein 2

ORPHA:1334

NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906

VPS37D

VPS37D subunit of ESCRT-I

ORPHA:904

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

Abnormal heart morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCA3

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: congenital heart defect

NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746

ABCC8

ATP binding cassette subfamily C member 8

ORPHA:99885 ORPHA:99886

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

ADNP

activity dependent neuroprotector homeobox

OMIM:615873

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

ALG9

ALG9 alpha-1,2-mannosyltransferase

OMIM:263210

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

ARID1A

AT-rich interaction domain 1A

OMIM:614607

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

B3GALT6

beta-1,3-galactosyltransferase 6

ORPHA:93359

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

B-Raf proto-oncogene, serine/threonine kinase

RGD

PMID:16474404

RGD:1600471

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

BRF1

BRF1 RNA polymerase III transcription initiation factor subunit

ClinVar Annotator: match by term: Abnormality of cardiac morphology

NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589

CDC42

cell division cycle 42

ORPHA:487796

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

CDK8

cyclin dependent kinase 8

ClinVar Annotator: match by term: congenital heart defect

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

CDKL4

cyclin dependent kinase like 4

ClinVar Annotator: match by term: Abnormally shaped heart

NCBI chr 2:39,168,045...39,247,120
Ensembl chr 2:39,175,646...39,243,957

CDON

cell adhesion associated, oncogene regulated

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335

CEP170B

centrosomal protein 170B

ClinVar Annotator: match by term: Abnormally shaped heart

PMID:23087211 PMID:25741868 PMID:31680349

NCBI chr14:104,864,513...104,896,747
Ensembl chr14:104,865,268...104,896,747

CERS1

ceramide synthase 1

ClinVar Annotator: match by term: Congenital heart defects

PMID:28492532 PMID:28991257

NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727

CHRM3

cholinergic receptor muscarinic 3

OMIM:100100

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

COG7

component of oligomeric golgi complex 7

OMIM:608779

NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189

COL11A2

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Abnormally shaped heart
ClinVar Annotator: match by term: congenital heart defect

PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More...

NCBI chr 6:33,162,694...33,193,137
Ensembl chr 6:33,162,681...33,192,499

COL3A1

collagen type III alpha 1 chain

OMIM:618343

NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

ORPHA:2754

NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376

CSNK2A1

casein kinase 2 alpha 1

OMIM:617062

NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835

DCHS1

dachsous cadherin-related 1

ORPHA:314679

NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809

DDB1

damage specific DNA binding protein 1

ClinVar Annotator: match by term: Abnormal heart morphology

NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596

DISP1

dispatched RND transporter family member 1

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995

DLK1

delta like non-canonical Notch ligand 1

ORPHA:254525

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

DLL1

delta like canonical Notch ligand 1

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565

DNAJC21

DnaJ heat shock protein family (Hsp40) member C21

ORPHA:811

NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964

DYNC2H1

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Abnormally shaped heart

PMID:25741868 PMID:29458881 PMID:31680349

NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863

EBP

EBP cholestenol delta-isomerase

ORPHA:401973

NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716

EFL1

elongation factor like GTPase 1

ORPHA:811

NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773

EHMT1

euchromatic histone lysine methyltransferase 1

ORPHA:261652

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

EPHB4

EPH receptor B4

ORPHA:137667

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

ERGIC1

endoplasmic reticulum-golgi intermediate compartment 1

ORPHA:1143

NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792

ESR1

estrogen receptor 1

susceptibility

DNA:SNP:intron:

RGD

PMID:19032828

RGD:8553058

NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619

EXOC6B

exocyst complex component 6B

ORPHA:93359

NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041

FAM149B1

family with sequence similarity 149 member B1

ORPHA:2754

NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504

FA complementation group A

OMIM:227650

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

FA complementation group D2

OMIM:227646

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

FA complementation group E

OMIM:600901

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

FAT4

FAT atypical cadherin 4

ORPHA:314679

NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932

FGF8

fibroblast growth factor 8

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371

FGFR1

fibroblast growth factor receptor 1

ORPHA:220386

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

FGFR2

fibroblast growth factor receptor 2

OMIM:101400

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

filamin A

ORPHA:1826

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

FOXH1

forkhead box H1

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849

FOXP1

forkhead box P1

ORPHA:391372

NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978

FRAS1

Fraser extracellular matrix complex subunit 1

OMIM:219000

NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269

GAS1

growth arrest specific 1

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506

GATA3

GATA binding protein 3

ORPHA:2237

NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198

GATA6

GATA binding protein 6

ClinVar Annotator: match by term: Congenital heart defects

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

GCK

glucokinase

ORPHA:99885

NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170

GDF1

growth differentiation factor 1

ClinVar Annotator: match by term: Congenital heart defects

PMID:28492532 PMID:28991257

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

GLI2

GLI family zinc finger 2

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653

GLI3

GLI family zinc finger 3

OMIM:175700

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

HSPG2

heparan sulfate proteoglycan 2

ORPHA:1865

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

HYLS1

HYLS1 centriolar and ciliogenesis associated

ClinVar Annotator: match by term: Abnormally shaped heart

PMID:25741868 PMID:27055666 PMID:31680349

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

HYMAI

hydatidiform mole associated and imprinted

ORPHA:99886

NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262

INS

insulin

ORPHA:99885

NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221

INTS1

integrator complex subunit 1

OMIM:618571

NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389

ISL1

ISL LIM homeobox 1

ClinVar Annotator: match by term: Abnormally shaped heart

NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730

KCNJ11

potassium inwardly rectifying channel subfamily J member 11

ORPHA:99885 ORPHA:99886

NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331

KIAA0753

ORPHA:2754

NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711

KIF7

kinesin family member 7

ORPHA:2754

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

KMT2C

lysine methyltransferase 2C

ORPHA:261652

NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644

KRAS

KRAS proto-oncogene, GTPase

RGD

PMID:16474404

RGD:1600471

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

LEMD3

LEM domain containing 3

ORPHA:166119

NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355

LMBRD1

LMBR1 domain containing 1

ORPHA:79284

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

LZTR1

leucine zipper like transcription regulator 1

DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human)

RGD

PMID:31825158

RGD:151708718

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

MAP3K7

mitogen-activated protein kinase kinase kinase 7

ORPHA:1826

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

MAP4K3

mitogen-activated protein kinase kinase kinase kinase 3

ClinVar Annotator: match by term: Abnormally shaped heart

NCBI chr 2:39,249,266...39,437,285
Ensembl chr 2:39,249,266...39,437,301

MAPK1

mitogen-activated protein kinase 1

ClinVar Annotator: match by term: Abnormally shaped heart

PMID:25741868 PMID:32721402

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

MED12

mediator complex subunit 12

OMIM:305450

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

MEFV

MEFV innate immuity regulator, pyrin

ClinVar Annotator: match by term: congenital heart defect

PMID:9668175 PMID:10090880 PMID:10611954 PMID:10612841 PMID:10787450 More...

NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633

MEG3

maternally expressed 3

ORPHA:254525

NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031

MID1

midline 1

OMIM:300000

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

MYH6

myosin heavy chain 6

ClinVar Annotator: match by term: Congenital heart defects
ClinVar Annotator: match by term: Abnormally shaped heart

PMID:25326635 PMID:25741868

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

MYRF

myelin regulatory factor

ClinVar Annotator: match by term: Abnormally shaped heart

PMID:25741868 PMID:30532227

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

NEU1

neuraminidase 1

ORPHA:93400

NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905

NK2 homeobox 5

PMID:24033266 PMID:15342699

DNA:mutations:multiple
ClinVar Annotator: match by term: Abnormally shaped heart

ClinVar
RGD

RGD:1581132

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

NODAL

nodal growth differentiation factor

PMID:19064609 PMID:25741868 PMID:31680349

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926
ClinVar Annotator: match by term: Abnormally shaped heart

HPO
ClinVar

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

NONO

non-POU domain containing octamer binding

ClinVar Annotator: match by term: Abnormally shaped heart

PMID:25741868 PMID:27550220 PMID:31680349

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

NOTCH1

notch receptor 1

ClinVar Annotator: match by term: congenital heart defect
ClinVar Annotator: match by term: Abnormally shaped heart
ClinVar Annotator: match by term: Congenital heart defects

PMID:17662764 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28387797 More...

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

OFD1

OFD1 centriole and centriolar satellite protein

OMIM:311200 ORPHA:2754

NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955

PBX1

PBX homeobox 1

OMIM:617641

NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296

PDE6D

phosphodiesterase 6D

ORPHA:2754

NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272

PDX1

pancreatic and duodenal homeobox 1

ORPHA:99885

NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313

PEX2

peroxisomal biogenesis factor 2

OMIM:614866

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

PEX5

peroxisomal biogenesis factor 5

OMIM:214110

NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574

PIGV

phosphatidylinositol glycan anchor biosynthesis class V

OMIM:239300

NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659

PLAGL1

PLAG1 like zinc finger 1

ORPHA:99886

NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599

POGZ

pogo transposable element derived with ZNF domain

ORPHA:468678

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

PRDM6

PR/SET domain 6

ClinVar Annotator: match by term: Abnormally shaped heart

NCBI chr 5:123,089,241...123,194,266
Ensembl chr 5:123,089,241...123,194,266

PTCH1

patched 1

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057

PURA

purine rich element binding protein A

ORPHA:314655

NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619

PUS3

pseudouridine synthase 3

ClinVar Annotator: match by term: Abnormally shaped heart

PMID:25741868 PMID:27055666 PMID:31680349

NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221

RAD51 paralog C

OMIM:613390

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

RAI1

retinoic acid induced 1

OMIM:182290

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

RASA1

RAS p21 protein activator 1

ORPHA:137667

NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931

RASA2

RAS p21 protein activator 2

ClinVar Annotator: match by term: Abnormal heart morphology

PMID:28492532

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

RECQL4

RecQ like helicase 4

OMIM:218600

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

RLIM

ring finger protein, LIM domain interacting

OMIM:300978

NCBI chr X:74,582,976...74,614,624
Ensembl chr X:74,582,976...74,614,624

ROBO1

roundabout guidance receptor 1

ClinVar Annotator: match by term: Abnormally shaped heart
ClinVar Annotator: match by term: Abnormal heart morphology

PMID:25741868 PMID:26489027 PMID:27854360 PMID:28286008 PMID:28492532 More...

NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998

RTL1

retrotransposon Gag like 1

ORPHA:254525

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

RYR2

ryanodine receptor 2

ClinVar Annotator: match by term: Abnormal heart morphology

PMID:25741868 PMID:28492532

NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988

SAA1

serum amyloid A1

ORPHA:85445

NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977

SBDS

SBDS ribosome maturation factor

ORPHA:811

NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,586

SETBP1

SET binding protein 1

ORPHA:798

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

SHH

sonic hedgehog signaling molecule

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463

SIN3A

SIN3 transcription regulator family member A

ORPHA:94065

NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842

SIX3

SIX homeobox 3

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071

SLC7A7

solute carrier family 7 member 7

ORPHA:470

NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820

SMARCA4

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

OMIM:614609

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

SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

OMIM:614608

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

SMC1A

structural maintenance of chromosomes 1A

ORPHA:220386

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

SMO

smoothened, frizzled class receptor

OMIM:241800

NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Abnormally shaped heart

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

SOX9

SRY-box transcription factor 9

OMIM:114290

NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416

SRP54

signal recognition particle 54

ORPHA:811

NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686

STAG2

stromal antigen 2

ORPHA:93925

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

STAT3

signal transducer and activator of transcription 3

ORPHA:99885

NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540

STIL

STIL centriolar assembly protein

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892

TAF1

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: congenital heart defect

PMID:26637982 PMID:32396742 PMID:33098347

NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,222...71,532,374

TBX5

T-box transcription factor 5

ClinVar Annotator: match by term: Abnormally shaped heart

PMID:10077612 PMID:10077762 PMID:12499378 PMID:12789647 PMID:16380715 More...

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

TCOF1

treacle ribosome biogenesis factor 1

OMIM:154500

NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308

TCTN3

tectonic family member 3

ORPHA:2754

NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143

TDGF1

teratocarcinoma-derived growth factor 1

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457

TGIF1

TGFB induced factor homeobox 1

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978

TMEM216

transmembrane protein 216

ORPHA:2754

NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866

TOPORS

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

ORPHA:2754

NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586

TWIST1

twist family bHLH transcription factor 1

OMIM:101400

NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636

ZEB2

zinc finger E-box binding homeobox 2

OMIM:235730

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

ZFP57

ZFP57 zinc finger protein

ORPHA:99886

NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155

ZIC2

Zic family member 2

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765

ZRSR2

zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2

ClinVar Annotator: match by term: Abnormally shaped heart

PMID:25679214 PMID:25741868 PMID:31680349

NCBI chr X:15,790,484...15,823,260
Ensembl chr X:15,790,156...15,830,694

Abnormal heart valve morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCC9

ATP binding cassette subfamily C member 9

ORPHA:1517

NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543

ARF1

ADP ribosylation factor 1

ORPHA:98892

NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,660...228,099,212

ARFGEF2

ADP ribosylation factor guanine nucleotide exchange factor 2

ORPHA:98892

NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693

ARSB

arylsulfatase B

OMIM:253200

NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087

BIN1

bridging integrator 1

ORPHA:169186

NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288

B-Raf proto-oncogene, serine/threonine kinase

ORPHA:1340

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

CASZ1

castor zinc finger 1

ORPHA:1606

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

CHST14

carbohydrate sulfotransferase 14

ORPHA:2953

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

CPLX1

complexin 1

ORPHA:280

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

CTBP1

C-terminal binding protein 1

ORPHA:280

NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,249,953

DNASE1L3

deoxyribonuclease 1 like 3

ORPHA:36412

NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697

DSE

dermatan sulfate epimerase

ORPHA:2953

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

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

ORPHA:289

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

ERMARD

ER membrane associated RNA degradation

ORPHA:98892

NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600

EVC

EvC ciliary complex subunit 1

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

ORPHA:289

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

filamin A

ORPHA:90652 ORPHA:98892

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

ORPHA:1606

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

GALNS

galactosamine (N-acetyl)-6-sulfatase

OMIM:253000

NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970

GLB1

galactosidase beta 1

OMIM:230500

NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202

GLI1

GLI family zinc finger 1

ORPHA:289

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

GUSB

glucuronidase beta

OMIM:253220

NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215

HSPG2

heparan sulfate proteoglycan 2

ORPHA:1606

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

IDS

iduronate 2-sulfatase

OMIM:309900

NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096

IDUA

alpha-L-iduronidase

ORPHA:93473 ORPHA:93476

NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564

KCNAB2

potassium voltage-gated channel subfamily A regulatory beta subunit 2

ORPHA:1606

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

KCNJ8

potassium inwardly rectifying channel subfamily J member 8

ORPHA:1517

NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600

KRAS

KRAS proto-oncogene, GTPase

ORPHA:1340

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

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

ORPHA:280

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

LUZP1

leucine zipper protein 1

ORPHA:1606

NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808

MAP1B

microtubule associated protein 1B

ORPHA:98892

NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565

MAP2K1

mitogen-activated protein kinase kinase 1

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

MMP23B

matrix metallopeptidase 23B

ORPHA:1606

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

NEDD4L

NEDD4 like E3 ubiquitin protein ligase

ORPHA:98892

NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540

NELFA

negative elongation factor complex member A

ORPHA:280

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

NKX2-6

NK2 homeobox 6

ORPHA:3384

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

NSD2

nuclear receptor binding SET domain protein 2

ORPHA:280

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

PDPN

podoplanin

ORPHA:1606

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

ORPHA:280

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

PLXND1

plexin D1

ORPHA:3384

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

PRDM16

PR/SET domain 16

ORPHA:1606

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

PRKCZ

protein kinase C zeta

ORPHA:1606

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

RERE

arginine-glutamic acid dipeptide repeats

ORPHA:1606

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

RYR1

ryanodine receptor 1

ORPHA:169186

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

SKI

SKI proto-oncogene

ORPHA:1606

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

SMPD1

sphingomyelin phosphodiesterase 1

ORPHA:77293

NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998

SPEG

striated muscle enriched protein kinase

ORPHA:169186

NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629

SPEN

spen family transcriptional repressor

ORPHA:1606

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

TMTC3

transmembrane O-mannosyltransferase targeting cadherins 3

ORPHA:98892

NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887

TTN

titin

ORPHA:169186

NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802

UBE4B

ubiquitination factor E4B

ORPHA:1606

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

Abnormal inferior vena cava morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CCDC103

coiled-coil domain containing 103

ORPHA:244

NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390

CCDC39

coiled-coil domain containing 39

ORPHA:244

NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942

CCDC40

coiled-coil domain containing 40

ORPHA:244

NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613

CCDC65

coiled-coil domain containing 65

ORPHA:244

NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840

CCNO

cyclin O

ORPHA:244

NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608

CFAP221

cilia and flagella associated protein 221

ORPHA:244

NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251

CFAP298

cilia and flagella associated protein 298

ORPHA:244

NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603

CFAP300

cilia and flagella associated protein 300

ORPHA:244

NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554

DNAAF1

dynein axonemal assembly factor 1

ORPHA:244

NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767

DNAAF11

dynein axonemal assembly factor 11

ORPHA:244

NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592

DNAAF2

dynein axonemal assembly factor 2

ORPHA:244

NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244

DNAAF3

dynein axonemal assembly factor 3

ORPHA:244

NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722

DNAAF4

dynein axonemal assembly factor 4

ORPHA:244

NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234

DNAAF5

dynein axonemal assembly factor 5

ORPHA:244

NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475

DNAAF6

dynein axonemal assembly factor 6

ORPHA:244

NCBI chr X:107,206,611...107,244,247
Ensembl chr X:107,206,611...107,244,247

DNAH1

dynein axonemal heavy chain 1

ORPHA:244

NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492

DNAH11

dynein axonemal heavy chain 11

ORPHA:244

NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839

DNAH5

dynein axonemal heavy chain 5

ORPHA:244

NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818

DNAH9

dynein axonemal heavy chain 9

ORPHA:244

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

DNAI1

dynein axonemal intermediate chain 1

ORPHA:244

NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988

DNAI2

dynein axonemal intermediate chain 2

ORPHA:244

NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884

DNAJB13

DnaJ heat shock protein family (Hsp40) member B13

ORPHA:244

NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366

DNAL1

dynein axonemal light chain 1

ORPHA:244

NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732

DRC1

dynein regulatory complex subunit 1

ORPHA:244

NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711

FOXJ1

forkhead box J1

ORPHA:244

NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245

GAS2L2

growth arrest specific 2 like 2

ORPHA:244

NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239

GAS8

growth arrest specific 8

ORPHA:244

NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975

HYDIN

HYDIN axonemal central pair apparatus protein

ORPHA:244

NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722

LRRC56

leucine rich repeat containing 56

ORPHA:244

NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912

MCIDAS

multiciliate differentiation and DNA synthesis associated cell cycle protein

ORPHA:244

NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315

NEK10

NIMA related kinase 10

ORPHA:244

NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460

NME8

NME/NM23 family member 8

ORPHA:244

NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397

ODAD1

outer dynein arm docking complex subunit 1

ORPHA:244

NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971

ODAD2

outer dynein arm docking complex subunit 2

ORPHA:244

NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079

ODAD3

outer dynein arm docking complex subunit 3

ORPHA:244

NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782

ODAD4

outer dynein arm docking complex subunit 4

ORPHA:244

NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503

OFD1

OFD1 centriole and centriolar satellite protein

ORPHA:244

NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955

RPGR

retinitis pigmentosa GTPase regulator

ORPHA:244

NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544

RSPH1

radial spoke head component 1

ORPHA:244

NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246

RSPH3

radial spoke head 3

ORPHA:244

NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202

RSPH4A

radial spoke head component 4A

ORPHA:244

NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985

RSPH9

radial spoke head component 9

ORPHA:244

NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600

SPAG1

sperm associated antigen 1

ORPHA:244

NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278

SPEF2

sperm flagellar 2

ORPHA:244

NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611

STK36

serine/threonine kinase 36

ORPHA:244

NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716

TTC12

tetratricopeptide repeat domain 12

ORPHA:244

NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544

ZMYND10

zinc finger MYND-type containing 10

ORPHA:244

NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732

Abnormal internal carotid artery morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCG5

ATP binding cassette subfamily G member 5

ORPHA:391665

NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865

ABCG8

ATP binding cassette subfamily G member 8

ORPHA:391665

NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988

APOB

apolipoprotein B

ORPHA:391665

NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073

LDLR

low density lipoprotein receptor

ORPHA:391665

NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,462...11,133,820

LDLRAP1

low density lipoprotein receptor adaptor protein 1

ORPHA:391665

NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886

NDE1

nudE neurodevelopment protein 1

ORPHA:2177

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

NF1

neurofibromin 1

ORPHA:97685

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

PCSK9

proprotein convertase subtilisin/kexin type 9

ORPHA:391665

NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852

Abnormal left ventricle morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

PRDM16

PR/SET domain 16

OMIM:615373

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

Abnormal left ventricular outflow tract morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALG9

ALG9 alpha-1,2-mannosyltransferase

ORPHA:79328

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

GATA5

GATA binding protein 5

ORPHA:402075

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

NK2 homeobox 5

ORPHA:402075

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

NOTCH1

notch receptor 1

ORPHA:402075

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

SMAD6

SMAD family member 6

ORPHA:402075

NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849

Abnormal lymphatic vessel morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CD40

CD40 molecule

associated with breast cancer, DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485)

RGD

PMID:21912605

RGD:8547780

NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863

CLU

clusterin

associated with breast cancer, DNA:snp:promoter:g.27611345C>G (rs9331888)

RGD

PMID:22037783

RGD:8963167

NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700

COMT

catechol-O-methyltransferase

associated with breast cancer, DNA:missense mutation:cds:p.V108/158M

RGD

PMID:10755383

RGD:8662330

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

FGFR2

fibroblast growth factor receptor 2

associated with breast cancer, DNA:snp:intron:c.109+7033T>A (rs1219648)

RGD

PMID:20640597

RGD:7394846

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

MMP3

matrix metallopeptidase 3

associated with breast cancer, DNA:deletion:promoter:-1170_-1172delA

RGD

PMID:15161710

RGD:8662937

NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609

RASA1

RAS p21 protein activator 1

ORPHA:90307

NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931

Abnormal mitral valve morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACTC1

actin alpha cardiac muscle 1

ORPHA:99103

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

B-Raf proto-oncogene, serine/threonine kinase

OMIM:613707

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

CCDC22

coiled-coil domain containing 22

ORPHA:7

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

CITED2

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

ORPHA:99103

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

GATA4

GATA binding protein 4

ORPHA:99103

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

GATA6

GATA binding protein 6

ORPHA:99103

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

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

HLA-DRB1

major histocompatibility complex, class II, DR beta 1

susceptibility

DNA:polymorphism:cds:HLA-DRB1*13

RGD

PMID:16426242

RGD:5147643

NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848

IDS

iduronate 2-sulfatase

ORPHA:217093

NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096

MYH6

myosin heavy chain 6

ORPHA:99103

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

NK2 homeobox 5

ORPHA:99103

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

RPS6KA3

ribosomal protein S6 kinase A3

ORPHA:192

NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519

TBX20

T-box transcription factor 20

ORPHA:99103

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

TLL1

tolloid like 1

ORPHA:99103

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

WASHC5

WASH complex subunit 5

ORPHA:7

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

Abnormal morphology of right ventricular trabeculae

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

JUP

junction plakoglobin

OMIM:601214

NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931

Abnormal morphology of the great vessels

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

TELO2

telomere maintenance 2

ORPHA:488642