Dyspnea - Ontology Report - Rat Genome Database

ATP binding cassette subfamily A member 3

OMIM:610921

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

ABCC9

ATP binding cassette subfamily C member 9

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

ABCG5

ATP binding cassette subfamily G member 5

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

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

ACTC1

actin alpha cardiac muscle 1

OMIM:612098 ORPHA:99103

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

ACVRL1

activin A receptor like type 1

OMIM:600376

NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361

AGR2

anterior gradient 2, protein disulphide isomerase family member

OMIM:620233

NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433

ALAS2

5'-aminolevulinate synthase 2

ORPHA:75563

NCBI chr X:55,009,055...55,030,977
Ensembl chr X:55,009,055...55,030,977

angiogenin

NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971

annexin A11

NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572

apolipoprotein B

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

ARX

aristaless related homeobox

OMIM:308350

NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420

ATRX

ATRX chromatin remodeler

ORPHA:231401

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

ataxin 2

NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676

BANF1

BAF nuclear assembly factor 1

OMIM:614008

NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149

BAP1

BRCA1 associated protein 1

ORPHA:50251

NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008

BMPR2

bone morphogenetic protein receptor type 2

OMIM:178600

NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751

BTNL2

butyrophilin like 2

OMIM:612387 ORPHA:797

NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181

CASR

calcium sensing receptor

OMIM:239200

NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629

CAV1

caveolin 1

OMIM:615343 ORPHA:220393

NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179

CCL26

C-C motif chemokine ligand 26

RGD

PMID:15207712

RGD:4891495

NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896

CCN2

cellular communication network factor 2

ORPHA:220393

NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372

cyclin F

NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854

CCR6

C-C motif chemokine receptor 6

ORPHA:220393

NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141

CDC45

cell division cycle 45

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

CDC6

cell division cycle 6

NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657

CDT1

chromatin licensing and DNA replication factor 1

NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258

CFAP410

cilia and flagella associated protein 410

NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402

CFTR

CF transmembrane conductance regulator

NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971

CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10

NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972

CHMP2B

charged multivesicular body protein 2B

NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556

CITED2

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

ORPHA:99103 ORPHA:99105

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

COL1A2

collagen type I alpha 2 chain

ORPHA:230851

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

COL4A5

collagen type IV alpha 5 chain

ORPHA:1018

NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545

COL4A6

collagen type IV alpha 6 chain

ORPHA:1018

NCBI chr X:108,155,614...108,439,458
Ensembl chr X:108,155,607...108,439,497

COPA

COPI coat complex subunit alpha

OMIM:616414

NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566

COX7B

cytochrome c oxidase subunit 7B

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

CRLF1

cytokine receptor like factor 1

OMIM:272430

NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741

CSF2RB

colony stimulating factor 2 receptor subunit beta

OMIM:614370

NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439

CSPP1

centrosome and spindle pole associated protein 1

OMIM:615636

NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778

D-amino acid oxidase

NCBI chr12:108,880,092...108,901,043
Ensembl chr12:108,858,932...108,901,043

DBH

dopamine beta-hydroxylase

ORPHA:230

NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329

dynactin subunit 1

NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087

DNA2

DNA replication helicase/nuclease 2

OMIM:615156

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

DNAJB4

DnaJ heat shock protein family (Hsp40) member B4

OMIM:620326

NCBI chr 1:77,979,175...78,017,964
Ensembl chr 1:77,979,175...78,017,964

DNAJB6

DnaJ heat shock protein family (Hsp40) member B6

OMIM:603511

NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439

DNASE1L3

deoxyribonuclease 1L3

ORPHA:36412

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

desmocollin 2

NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522

desmoglein 2

NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008

EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4

OMIM:234810 ORPHA:199241

NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591

ELN

elastin

OMIM:123700 ORPHA:3193

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

endoglin

NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658

EPH receptor A4

NCBI chr 2:221,418,027...221,574,202
Ensembl chr 2:221,418,027...221,574,202

EPOR

erythropoietin receptor

ORPHA:90042

NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342

ERBB4

erb-b2 receptor tyrosine kinase 4

NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841

FAM20C

FAM20C golgi associated secretory pathway kinase

ORPHA:1832

NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772

FBP1

fructose-bisphosphatase 1

OMIM:229700 ORPHA:348

NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249

ferredoxin 2

NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015

FIG4

FIG4 phosphoinositide 5-phosphatase

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

filamin A

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

filamin C

NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274

FUS

FUS RNA binding protein

NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,191,605

FZR1

fizzy and cell division cycle 20 related 1

OMIM:620145

NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334

alpha glucosidase

NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881

GATA4

GATA binding protein 4

ORPHA:334 ORPHA:99103

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

GATA5

GATA binding protein 5

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

GATA binding protein 6

ORPHA:334 ORPHA:99103

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

GBA1

glucosylceramidase beta 1

OMIM:230800

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

GJA5

gap junction protein alpha 5

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

galactosidase alpha

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

GLDN

gliomedin

ClinVar Annotator: match by term: Difficult to breathe

PMID:25741868 PMID:28726266

NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005

GLE1

GLE1 RNA export mediator

NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874

GLT8D1

glycosyltransferase 8 domain containing 1

NCBI chr 3:52,694,486...52,705,791
Ensembl chr 3:52,694,486...52,706,032

GMNN

geminin DNA replication inhibitor

NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099

GNAS

GNAS complex locus

ORPHA:79443 ORPHA:79444 ORPHA:94089

NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192

HBB

hemoglobin subunit beta

ORPHA:231214 ORPHA:231226

NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395

HCCS

holocytochrome c synthase

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

HLA-B

major histocompatibility complex, class I, B

ORPHA:36426

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

HLA-DPB1

major histocompatibility complex, class II, DP beta 1

ORPHA:133

NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696

HLA-DRB1

major histocompatibility complex, class II, DR beta 1

OMIM:181000 ORPHA:220393 ORPHA:747 ORPHA:797

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

HNRNPA1

heterogeneous nuclear ribonucleoprotein A1

NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088

IKZF1

IKAROS family zinc finger 1

ORPHA:36426

NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101

importin 8

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

IRAK1

interleukin 1 receptor associated kinase 1

NCBI chr X:154,010,507...154,019,902
Ensembl chr X:154,010,506...154,019,902

IRF5

interferon regulatory factor 5

ORPHA:220393

NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038

ISCU

iron-sulfur cluster assembly enzyme

OMIM:255125

NCBI chr12:108,561,463...108,569,384
Ensembl chr12:108,562,582...108,569,368

junctophilin 2

NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188

KCNA5

potassium voltage-gated channel subfamily A member 5

NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788

KCNE1

potassium voltage-gated channel subfamily E regulatory subunit 1

NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214

KCNE2

potassium voltage-gated channel subfamily E regulatory subunit 2

NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,364,006...34,371,381

KCNJ2

potassium inwardly rectifying channel subfamily J member 2

NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044

KCNJ3

potassium inwardly rectifying channel subfamily J member 3

NCBI chr 2:154,698,695...154,858,354
Ensembl chr 2:154,697,855...154,858,354

KCNJ5

potassium inwardly rectifying channel subfamily J member 5

NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163

KCNJ6

potassium inwardly rectifying channel subfamily J member 6

ORPHA:435628

NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345

KCNQ1

potassium voltage-gated channel subfamily Q member 1

NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105

KIF20A

kinesin family member 20A

ORPHA:75249

NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723

KIT

KIT proto-oncogene, receptor tyrosine kinase

ORPHA:79455

NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783

KLHL24

kelch like family member 24

OMIM:620236

NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519

LAMA3

laminin subunit alpha 3

NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222

LAMB3

laminin subunit beta 3

NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425

LAMC2

laminin subunit gamma 2

NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127

LDLR

low density lipoprotein receptor

NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820

LDLRAP1

low density lipoprotein receptor adaptor protein 1

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

LTBP3

latent transforming growth factor beta binding protein 3

OMIM:617809

NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930

MARS1

methionyl-tRNA synthetase 1

OMIM:615486

NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569

matrin 3

NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671

MGME1

mitochondrial genome maintenance exonuclease 1

OMIM:615084 ORPHA:352447

NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122

MRPL3

mitochondrial ribosomal protein L3

OMIM:614582

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

MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

MT-ND1

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262

MT-ND2

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511

MT-ND3

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404

MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137

MT-ND5

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148

MT-ND6

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673

MT-TK

mitochondrially encoded tRNA-Lys (AAA/G)

ORPHA:1349 ORPHA:255210

NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364

MT-TL1

mitochondrially encoded tRNA-Leu (UUA/G) 1

NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304

MT-TV

mitochondrially encoded tRNA-Val (GUN)

NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670

MT-TW

mitochondrially encoded tRNA-Trp (UGA/G)

NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579

MUC5B

mucin 5B, oligomeric mucus/gel-forming

OMIM:178500

NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172

myosin binding protein C3

ClinVar Annotator: match by term: dyspnoea

HPO
ClinVar

PMID:203979 PMID:2943217 PMID:9536098 PMID:17576681 PMID:20433692 More...

OMIM:115197

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

myosin heavy chain 6

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

MYH7

myosin heavy chain 7

ClinVar Annotator: match by term: dyspnoea

PMID:2793070 PMID:18258667 PMID:24033266 PMID:24111713 PMID:25741868 More...

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

myosin light chain 2

NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443

myosin light chain 4

NCBI chr17:47,189,433...47,227,650
Ensembl chr17:47,200,446...47,223,679

myozenin 2

NCBI chr 4:119,135,832...119,187,789
Ensembl chr 4:119,135,832...119,187,789

myopalladin

NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017

NDUFB11

NADH:ubiquinone oxidoreductase subunit B11

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

NEFH

neurofilament heavy chain

NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390

NEK1

NIMA related kinase 1

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

NKX2-5

NK2 homeobox 5

ORPHA:334 ORPHA:871 ORPHA:99103

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

NK2 homeobox 6

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

NOD2

nucleotide binding oligomerization domain containing 2

ORPHA:90340

NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077

NPPA

natriuretic peptide A

OMIM:615745 ORPHA:1344 ORPHA:334

NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345

nucleoporin 155

NCBI chr 5:37,288,137...37,371,106
Ensembl chr 5:37,288,137...37,371,106

optineurin

NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308

ORC1

origin recognition complex subunit 1

NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423

ORC4

origin recognition complex subunit 4

NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604

ORC6

origin recognition complex subunit 6

OMIM:613803 ORPHA:2554

NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394

PCSK9

proprotein convertase subtilisin/kexin type 9

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

profilin 1

NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061

phosphoglucomutase 1

NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

ORPHA:447

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

PIGT

phosphatidylinositol glycan anchor biosynthesis class T

OMIM:615399

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

PIK3CG

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

severity

DNA:misense mutation, substitution:cds:S1635Y, D2850D (rs17847825, rs2230460 ) (human)

RGD

PMID:29867955

RGD:38599181

NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980

PITX2

paired like homeodomain 2

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

plakophilin 2

NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798

PNKD

PNKD metallo-beta-lactamase domain containing

ORPHA:98810

NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793

PNPLA2

patatin like phospholipase domain containing 2

ORPHA:565612

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

POMT1

protein O-mannosyltransferase 1

ORPHA:86812

NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806

paraoxonase 1

NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532

paraoxonase 2

NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329

paraoxonase 3

NCBI chr 7:95,359,872...95,396,375
Ensembl chr 7:95,359,872...95,396,375

POT1

protection of telomeres 1

OMIM:620367

NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983

PPARGC1A

PPARG coactivator 1 alpha

NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089

PRKCSH

PRKCSH beta subunit of glucosidase II

OMIM:174050

NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968

peripherin

NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686

PRRT2

proline rich transmembrane protein 2

ORPHA:98810

NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892

RNU4ATAC

RNA, U4atac small nuclear

ORPHA:2636

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

SAT1

spermidine/spermine N1-acetyltransferase 1

NCBI chr X:23,783,173...23,786,210
Ensembl chr X:23,783,173...23,786,210

SCN1B

sodium voltage-gated channel beta subunit 1

ORPHA:334 ORPHA:871

NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449

SCN2B

sodium voltage-gated channel beta subunit 2

NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639

SCN3B

sodium voltage-gated channel beta subunit 3

NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244

sodium voltage-gated channel alpha subunit 4

OMIM:613345 ORPHA:99735

NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918

SCN4B

sodium voltage-gated channel beta subunit 4

NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888

SCN5A

sodium voltage-gated channel alpha subunit 5

OMIM:113900 ORPHA:1344 ORPHA:334 ORPHA:871

NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687

SCNN1A

sodium channel epithelial 1 subunit alpha

NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730

SCNN1B

sodium channel epithelial 1 subunit beta

NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294

SCNN1G

sodium channel epithelial 1 subunit gamma

NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883

SERPINA1

serpin family A member 1

OMIM:613490

NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693

SERPING1

serpin family G member 1

ORPHA:100050

NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171

SFTPA1

surfactant protein A1

OMIM:619611

NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455

SFTPA2

surfactant protein A2

OMIM:178500

NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407

surfactant protein B

NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741

SFTPC

surfactant protein C

OMIM:178500 OMIM:610913

NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479

SLC25A1

solute carrier family 25 member 1

OMIM:615182

NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739

SLC25A4

solute carrier family 25 member 4

OMIM:615418

NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382

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

SLC34A2

solute carrier family 34 member 2

ORPHA:60025

NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748

SLC52A3

solute carrier family 52 member 3

OMIM:211530

NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015

SMARCAL1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

OMIM:242900

NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053

SMC5

structural maintenance of chromosomes 5

OMIM:620185

NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873

SMPD1

sphingomyelin phosphodiesterase 1

OMIM:607616

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

SOD1

superoxide dismutase 1

NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931

SPP1

secreted phosphoprotein 1

NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532

sequestosome 1

NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078

STAT4

signal transducer and activator of transcription 4

NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596

syntaxin 16

NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526

TAF15

TATA-box binding protein associated factor 15

NCBI chr17:35,809,484...35,847,242
Ensembl chr17:35,809,482...35,864,615

TARDBP

TAR DNA binding protein

NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528

TBK1

TANK binding kinase 1

NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114

TBX20

T-box transcription factor 20

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

TBX4

T-box transcription factor 4

ORPHA:261279

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

TERC

telomerase RNA component

OMIM:127550

NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047

TERT

telomerase reverse transcriptase

OMIM:127550 OMIM:178500 OMIM:614742

NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068

TET2

tet methylcytosine dioxygenase 2

ORPHA:98826

NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816

TFG

trafficking from ER to golgi regulator

ORPHA:90117

NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964

TINF2

TERF1 interacting nuclear factor 2

OMIM:127550

NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663

TLL1

tolloid like 1

ORPHA:99103 ORPHA:99106

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

TMEM126B

transmembrane protein 126B

OMIM:618250

NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539

TNNC1

troponin C1, slow skeletal and cardiac type

OMIM:613243

NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041

TNNI3

troponin I3, cardiac type

ORPHA:75249

NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773

TNNT2

troponin T2, cardiac type

OMIM:115195 ORPHA:75249

NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764

TREM2

triggering receptor expressed on myeloid cells 2

NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186

TRMT5

tRNA methyltransferase 5

OMIM:616539

NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170

TRPM4

transient receptor potential cation channel subfamily M member 4

ORPHA:871

NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836

TSC1

TSC complex subunit 1

ORPHA:538

NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874

TSC2

TSC complex subunit 2

ORPHA:538

NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491

TSFM

Ts translation elongation factor, mitochondrial

OMIM:610505

NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071

TTN

titin

ORPHA:178464 ORPHA:334

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

UBE3B

ubiquitin protein ligase E3B

ORPHA:2707

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

ubiquilin 2

NCBI chr X:56,563,627...56,567,868
Ensembl chr X:56,563,627...56,567,868

unc-13 homolog A

NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365

VAPB

VAMP associated protein B and C

NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101

VCP

valosin containing protein

ORPHA:435387 ORPHA:803

NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668

WAS

WASP actin nucleation promoting factor

ORPHA:906

NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431

WIPF1

WAS/WASL interacting protein family member 1

ORPHA:906

NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916

Episodic respiratory distress

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

agrin

NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118

CHAT

choline O-acetyltransferase

NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942

COL13A1

collagen type XIII alpha 1 chain

NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275

MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

MT-ND1

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262

MT-ND2

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511

MT-ND3

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404

MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137

MT-ND5

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148

MT-ND6

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673

MT-TK

mitochondrially encoded tRNA-Lys (AAA/G)

NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364

MT-TL1

mitochondrially encoded tRNA-Leu (UUA/G) 1

NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304

MT-TV

mitochondrially encoded tRNA-Val (GUN)

NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670

MT-TW

mitochondrially encoded tRNA-Trp (UGA/G)

NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579

myosin IXA

NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577

SLC18A3

solute carrier family 18 member A3

NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720

SLC25A1

solute carrier family 25 member 1

NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739

SLC5A7

solute carrier family 5 member 7

NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994

SNAP25

synaptosome associated protein 25

NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258

synaptotagmin 2

NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454

VAMP1

vesicle associated membrane protein 1

NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677

Exertional dyspnea

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP binding cassette subfamily A member 3

OMIM:610921 ORPHA:2032

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

ABCC9

ATP binding cassette subfamily C member 9

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

ACADM

acyl-CoA dehydrogenase medium chain

ORPHA:42

NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575

ACTA2

actin alpha 2, smooth muscle

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

ACTC1

actin alpha cardiac muscle 1

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

actinin alpha 2

NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631

AGR2

anterior gradient 2, protein disulphide isomerase family member

OMIM:620233

NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433

agrin

NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118

adenylate kinase 9

NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217

ANKRD1

ankyrin repeat domain 1

NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087

ATP11A

ATPase phospholipid transporting 11A

NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168

ATPase 13A3

NCBI chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364

BAG cochaperone 3

NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819

BAG cochaperone 5

NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657

BCL6 corepressor

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

CAP2

cyclase associated actin cytoskeleton regulatory protein 2

NCBI chr 6:17,393,595...17,557,780
Ensembl chr 6:17,393,595...17,557,780

CHRNA1

cholinergic receptor nicotinic alpha 1 subunit

NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935

CHRNB1

cholinergic receptor nicotinic beta 1 subunit

NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710

CHRND

cholinergic receptor nicotinic delta subunit

NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667

CHRNE

cholinergic receptor nicotinic epsilon subunit

NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438

CITED2

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

ORPHA:99103 ORPHA:99105

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

COA8

cytochrome c oxidase assembly factor 8

ORPHA:436271

NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523

COL13A1

collagen type XIII alpha 1 chain

NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275

COLQ

collagen like tail subunit of asymmetric acetylcholinesterase

NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751

crystallin alpha B

NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722

CSF2RB

colony stimulating factor 2 receptor subunit beta

OMIM:614370

NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439

CSRP3

cysteine and glycine rich protein 3

NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571

cytochrome b5 type A

NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973

CYB5R3

cytochrome b5 reductase 3

OMIM:250800 ORPHA:621

NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870

desmin

NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735

dystrophin

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

DNA2

DNA replication helicase/nuclease 2

OMIM:615156 ORPHA:352470

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

docking protein 7

NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473

dolichol kinase

NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603

DPP9

dipeptidyl peptidase 9

NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673

desmoglein 2

NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008

desmoplakin

NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714

EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4

ORPHA:199241

NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591

elastin

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

endoglin

NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658

EPOR

erythropoietin receptor

OMIM:133100 ORPHA:90042

NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342

FAM13A

family with sequence similarity 13 member A

NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398

fibrillin 1

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

FHL2

four and a half LIM domains 2

NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513

FIP1L1

factor interacting with PAPOLA and CPSF1

NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382

fukutin

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

forkhead box E3

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

GATA4

GATA binding protein 4

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

GATA binding protein 6

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

GATAD1

GATA zinc finger domain containing 1

NCBI chr 7:92,447,482...92,495,769
Ensembl chr 7:92,447,482...92,460,075

glycogenin 1

NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775

HAND2

heart and neural crest derivatives expressed 2

NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229

HEY2

hes related family bHLH transcription factor with YRPW motif 2

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

IRF2BP2

interferon regulatory factor 2 binding protein 2

NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178

Janus kinase 2

NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948

junctophilin 2

NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188

LAMA4

laminin subunit alpha 4

NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939

LAMB2

laminin subunit beta 2

NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118

LIM domain binding 3

NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072

LMNA

lamin A/C

OMIM:181350 ORPHA:154 ORPHA:740

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

leiomodin 2

NCBI chr 7:123,655,866...123,664,290
Ensembl chr 7:123,655,866...123,664,290

lysyl oxidase

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

LRP4

LDL receptor related protein 4

NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642

MAT2A

methionine adenosyltransferase 2A

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

MFAP5

microfibril associated protein 5

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

MT-TN

mitochondrially encoded tRNA-Asn (AAU/C)

NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729

MT-TS1

mitochondrially encoded tRNA-Ser (UCN) 1

NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514

MUC5B

mucin 5B, oligomeric mucus/gel-forming

NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172

MUSK

muscle associated receptor tyrosine kinase

NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558

myosin binding protein C3

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

MYH11

myosin heavy chain 11

ORPHA:229 ORPHA:91387

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

MYH6

myosin heavy chain 6

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

MYH7

myosin heavy chain 7

OMIM:255160 ORPHA:154

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

myosin light chain 3

NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,111...46,882,178

MYLK

myosin light chain kinase

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

myopalladin

NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017

NABP1

nucleic acid binding protein 1

NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097

nebulin

NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487

NEXN

nexilin F-actin binding protein

NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895

NK2 homeobox 5

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

nucleophosmin 1

NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810

NUMA1

nuclear mitotic apparatus protein 1

NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693

PARN

poly(A)-specific ribonuclease

NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728

PIEZO2

piezo type mechanosensitive ion channel component 2

OMIM:108145

NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569

plectin

NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734

phospholamban

NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716

PML

PML nuclear body scaffold

NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827

POLG

DNA polymerase gamma, catalytic subunit

NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861

POLG2

DNA polymerase gamma 2, accessory subunit

NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054

PPCS

phosphopantothenoylcysteine synthetase

NCBI chr 1:42,456,341...42,473,417
Ensembl chr 1:42,456,117...42,473,385

PR/SET domain 16

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

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

ORPHA:520 ORPHA:615

NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319

PRKG1

protein kinase cGMP-dependent 1

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

presenilin 1

NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691

presenilin 2

NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726

PYGM

glycogen phosphorylase, muscle associated

ORPHA:368

NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

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

RAPSN

receptor associated protein of the synapse

NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143

RARA

retinoic acid receptor alpha

NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643

RBM20

RNA binding motif protein 20

NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468

RPL3L

ribosomal protein L3 like

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

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961

RTEL1

regulator of telomere elongation helicase 1

NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253

sodium voltage-gated channel alpha subunit 4

NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918

SCN5A

sodium voltage-gated channel alpha subunit 5

NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687

SDHA

succinate dehydrogenase complex flavoprotein subunit A

NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082

SFTPA1

surfactant protein A1

NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455

SFTPA2

surfactant protein A2

NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407

SFTPC

surfactant protein C

NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479

sarcoglycan delta

NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788

SH2B3

SH2B adaptor protein 3

OMIM:133100

NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623

SLC25A4

solute carrier family 25 member 4

NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382

SLC34A2

solute carrier family 34 member 2

ORPHA:60025

NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748

SMAD family member 2

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

SMAD family member 3

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

SMAD family member 4

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

STAT3

signal transducer and activator of transcription 3

NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568

STAT5B

signal transducer and activator of transcription 5B

NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633

STN1

STN1 subunit of CST complex

NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332

SURF1

SURF1 cytochrome c oxidase assembly factor

NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676

TAF1A

TATA-box binding protein associated factor, RNA polymerase I subunit A

NCBI chr 1:222,554,105...222,589,933
Ensembl chr 1:222,557,902...222,589,933

TAFAZZIN

tafazzin, phospholipid-lysophospholipid transacylase

NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726

TBL1X/Y related 1

NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000

TBX20

T-box transcription factor 20

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

titin-cap

NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554

TERC

telomerase RNA component

NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047

TERT

telomerase reverse transcriptase

NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068

TGFB2

transforming growth factor beta 2

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

TGFB3

transforming growth factor beta 3

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

TGFBR1

transforming growth factor beta receptor 1

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

TGFBR2

transforming growth factor beta receptor 2

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

THSD4

thrombospondin type 1 domain containing 4

NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383

TLL1

tolloid like 1

ORPHA:99103 ORPHA:99106

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

thymopoietin

NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351

TNNC1

troponin C1, slow skeletal and cardiac type

OMIM:613243 ORPHA:154

NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041

TNNI3

troponin I3, cardiac type

NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773

TNNT2

troponin T2, cardiac type

NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764

tropomyosin 1

NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915

TRMT5

tRNA methyltransferase 5

OMIM:616539

NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170

titin

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

TWNK

twinkle mtDNA helicase

NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403

TXNRD2

thioredoxin reductase 2

NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820

VCL

vinculin

OMIM:613255 ORPHA:154

NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363

VEZF1

vascular endothelial zinc finger 1

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

ZBTB16

zinc finger and BTB domain containing 16

NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765

ZMPSTE24

zinc metallopeptidase STE24

ORPHA:740

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

Intercostal retractions

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

SOD1

superoxide dismutase 1

susceptibility

DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135)

RGD

PMID:22574884

RGD:8655661

NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931

Nasal flaring

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP binding cassette subfamily A member 3

ORPHA:70587

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

RAP1GDS1

Rap1 GTPase-GDP dissociation stimulator 1

OMIM:620655

NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858

surfactant protein B

NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741

surfactant protein C

NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479

Orthopnea

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCC9

ATP binding cassette subfamily C member 9

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

ACTC1

actin alpha cardiac muscle 1

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

actinin alpha 2

NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631

agrin

NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118

adenylate kinase 9

NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217

ANKRD1

ankyrin repeat domain 1

NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087

BAG cochaperone 3

NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819

BAG cochaperone 5

NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657

CAP2

cyclase associated actin cytoskeleton regulatory protein 2

NCBI chr 6:17,393,595...17,557,780
Ensembl chr 6:17,393,595...17,557,780

CHRNA1

cholinergic receptor nicotinic alpha 1 subunit

NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935

CHRNB1

cholinergic receptor nicotinic beta 1 subunit

NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710

CHRND

cholinergic receptor nicotinic delta subunit

NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667

CHRNE

cholinergic receptor nicotinic epsilon subunit

NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438

CITED2

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

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

COL13A1

collagen type XIII alpha 1 chain

NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275

CRYAB

crystallin alpha B

OMIM:608810 ORPHA:154

NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722

CSRP3

cysteine and glycine rich protein 3

NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571

desmin

NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735

dystrophin

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

docking protein 7

NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473

dolichol kinase

NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603

desmoglein 2

NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008

desmoplakin

NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714

FHL2

four and a half LIM domains 2

NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513

fukutin

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

filamin C

NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274

GATA4

GATA binding protein 4

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

GATA binding protein 6

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

GATAD1

GATA zinc finger domain containing 1

NCBI chr 7:92,447,482...92,495,769
Ensembl chr 7:92,447,482...92,460,075

HAND2

heart and neural crest derivatives expressed 2

NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229

junctophilin 2

NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188

KIF20A

kinesin family member 20A

ORPHA:75249

NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723

LAMA4

laminin subunit alpha 4

NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939

LIM domain binding 3

NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072

lamin A/C

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

leiomodin 2

NCBI chr 7:123,655,866...123,664,290
Ensembl chr 7:123,655,866...123,664,290

LRP4

LDL receptor related protein 4

NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642

MUSK

muscle associated receptor tyrosine kinase

NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558

myosin binding protein C3

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

MYH6

myosin heavy chain 6

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

myosin heavy chain 7

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

myozenin 2

NCBI chr 4:119,135,832...119,187,789
Ensembl chr 4:119,135,832...119,187,789

MYPN

myopalladin

ORPHA:154 ORPHA:75249

NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017

NEXN

nexilin F-actin binding protein

NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895

NK2 homeobox 5

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

phospholamban

NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716

PPCS

phosphopantothenoylcysteine synthetase

NCBI chr 1:42,456,341...42,473,417
Ensembl chr 1:42,456,117...42,473,385

PR/SET domain 16

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

presenilin 1

NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691

presenilin 2

NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

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

RAPSN

receptor associated protein of the synapse

NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143

RBM20

RNA binding motif protein 20

NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,468

RPL3L

ribosomal protein L3 like

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

sodium voltage-gated channel alpha subunit 4

NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918

SCN5A

sodium voltage-gated channel alpha subunit 5

NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687

SDHA

succinate dehydrogenase complex flavoprotein subunit A

NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082

sarcoglycan delta

NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788

TAF1A

TATA-box binding protein associated factor, RNA polymerase I subunit A

NCBI chr 1:222,554,105...222,589,933
Ensembl chr 1:222,557,902...222,589,933

TAFAZZIN

tafazzin, phospholipid-lysophospholipid transacylase

NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726

TBX20

T-box transcription factor 20

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

titin-cap

NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554

tolloid like 1

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

thymopoietin

NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,579...98,550,351

TNNC1

troponin C1, slow skeletal and cardiac type

NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041

TNNI3

troponin I3, cardiac type

ORPHA:154 ORPHA:75249

NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773

TNNT2

troponin T2, cardiac type

ORPHA:154 ORPHA:75249

NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764

tropomyosin 1

NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915

TTN

titin

ORPHA:154 ORPHA:178464

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

TXNRD2

thioredoxin reductase 2

NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820

vinculin

NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363

VEZF1

vascular endothelial zinc finger 1

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

Paroxysmal dyspnea

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACTA2

actin alpha 2, smooth muscle

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

elastin

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

fibrillin 1

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

forkhead box E3

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

GTPBP3

GTP binding protein 3, mitochondrial

ORPHA:444013

NCBI chr19:17,334,982...17,342,731
Ensembl chr19:17,334,920...17,342,731

HEY2

hes related family bHLH transcription factor with YRPW motif 2

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

lysyl oxidase

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

MAT2A

methionine adenosyltransferase 2A

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

MFAP5

microfibril associated protein 5

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

MYH11

myosin heavy chain 11

ORPHA:229 ORPHA:91387

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

MYLK

myosin light chain kinase

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

PRKG1

protein kinase cGMP-dependent 1

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

SMAD family member 2

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

SMAD family member 3

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

SMAD family member 4

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

TGFB2

transforming growth factor beta 2

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

TGFB3

transforming growth factor beta 3

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

TGFBR1

transforming growth factor beta receptor 1

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

TGFBR2

transforming growth factor beta receptor 2

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

THSD4

thrombospondin type 1 domain containing 4

NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383

Respiratory distress

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP binding cassette subfamily A member 3

OMIM:610921

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

ABCC6

ATP binding cassette subfamily C member 6

ORPHA:51608

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

ACADS

acyl-CoA dehydrogenase short chain

ORPHA:26792

NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008

ACADVL

acyl-CoA dehydrogenase very long chain

ORPHA:26793

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

ACTA1

actin alpha 1, skeletal muscle

OMIM:620278

NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104

ADAMTS13

ADAM metallopeptidase with thrombospondin type 1 motif 13

OMIM:274150

NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402

adenylate cyclase 6

NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089

ADNP

activity dependent neuroprotector homeobox

ORPHA:404448

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

AIFM1

apoptosis inducing factor mitochondria associated 1

ORPHA:238329

NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879

ALG12

ALG12 alpha-1,6-mannosyltransferase

OMIM:607143

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

ALK

ALK receptor tyrosine kinase

NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586

ALMS1

ALMS1 centrosome and basal body associated protein

ORPHA:64

NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166

ASAH1

N-acylsphingosine amidohydrolase 1

ORPHA:333

NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591

ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497

ATP5F1A

ATP synthase F1 subunit alpha

NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334

ATP5F1D

ATP synthase F1 subunit delta

NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825

ATP5F1E

ATP synthase F1 subunit epsilon

NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345

ATP5MK

ATP synthase membrane subunit k

NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492

ATP6V1B2

ATPase H+ transporting V1 subunit B2

ORPHA:79500

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

ATPAF1

ATP synthase mitochondrial F1 complex assembly factor 1

NCBI chr 1:46,632,737...46,668,557
Ensembl chr 1:46,632,737...46,673,867

ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2

NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209

B3GALT6

beta-1,3-galactosyltransferase 6

ORPHA:536467

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

BAP1

BRCA1 associated protein 1

ORPHA:50251

NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008

BMPER

BMP binding endothelial regulator

OMIM:608022 ORPHA:66637

NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427

bolA family member 3

NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912

biotinidase

NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311

CACNA1A

calcium voltage-gated channel subunit alpha1 A

NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025

CDC45

cell division cycle 45

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

CDC6

cell division cycle 6

NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657

CDT1

chromatin licensing and DNA replication factor 1

NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258

CHAT

choline O-acetyltransferase

OMIM:254210

NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942

CHRNE

cholinergic receptor nicotinic epsilon subunit

OMIM:605809

NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438

CLCNKB

chloride voltage-gated channel Kb

ORPHA:358

NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311

CLPB

ClpB family mitochondrial disaggregase

OMIM:616271

NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680

CNTNAP1

contactin associated protein 1

ORPHA:2680

NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993

COL25A1

collagen type XXV alpha 1 chain

ORPHA:1143

NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752

COL2A1

collagen type II alpha 1 chain

OMIM:151210 OMIM:156550 OMIM:183900

NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554

COLQ

collagen like tail subunit of asymmetric acetylcholinesterase

NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751

COQ7

coenzyme Q7, hydroxylase

OMIM:616733

NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095

COX7B

cytochrome c oxidase subunit 7B

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

CREB binding protein

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

CSF2RA

colony stimulating factor 2 receptor subunit alpha

ORPHA:264675

NCBI chr  X:1,268,814...1,325,218
NCBI chr  Y:1,268,814...1,325,218
Ensembl chr  Y:1,268,800...1,310,381
Ensembl chr  X:1,268,800...1,310,381

CSF2RB

colony stimulating factor 2 receptor subunit beta

ORPHA:264675

NCBI chr22:36,913,628...36,940,439
Ensembl chr22:36,913,628...36,940,439

DES

desmin

ClinVar Annotator: match by term: Respiratory distress

PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 More...

NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735

DEAH-box helicase 16

NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006

DISC1

DISC1 scaffold protein

ORPHA:171703

NCBI chr 1:231,626,790...232,041,272
Ensembl chr 1:231,626,790...232,041,272

DM1 protein kinase

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

DNAAF3

dynein axonemal assembly factor 3

OMIM:606763

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

DNAJC21

DnaJ heat shock protein family (Hsp40) member C21

OMIM:260400

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

DPM1

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

OMIM:608799

NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140

DPM2

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

OMIM:615042 ORPHA:329178

NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

OMIM:617088

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

ectodysplasin A

NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472

endothelin 1

NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194

EFTUD2

elongation factor Tu GTP binding domain containing 2

OMIM:610536

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

ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

ORPHA:51608

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

eomesodermin

NCBI chr 3:27,715,953...27,722,713
Ensembl chr 3:27,715,949...27,722,711

EP300

E1A binding protein p300

OMIM:180849

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

EPH receptor B4

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

ERF

ETS2 repressor factor

OMIM:617180

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

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

ETFA

electron transfer flavoprotein subunit alpha

OMIM:231680

NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730

ETFB

electron transfer flavoprotein subunit beta

OMIM:231680

NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388

ETFDH

electron transfer flavoprotein dehydrogenase

OMIM:231680

NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742

FAM20C

FAM20C golgi associated secretory pathway kinase

ORPHA:1832

NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772

FBP1

fructose-bisphosphatase 1

ORPHA:348

NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249

FGFR1

fibroblast growth factor receptor 1

OMIM:166250

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:123790 ORPHA:1555 ORPHA:93259 ORPHA:93260

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

FGFR3

fibroblast growth factor receptor 3

OMIM:100800 OMIM:616482

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

forkhead box F1

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

forkhead box P3

NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800

alpha glucosidase

NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881

galactosylceramidase

NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665

GATA binding protein 6

ORPHA:2140 ORPHA:2255

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

GBA1

glucosylceramidase beta 1

OMIM:608013 ORPHA:77260

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

GJB2

gap junction protein beta 2

ClinVar Annotator: match by term: Respiratory distress

PMID:17666888 PMID:25741868 PMID:30755392

NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938

GMNN

geminin DNA replication inhibitor

NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099

GNAI3

G protein subunit alpha i3

ORPHA:137888

NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195

GOSR2

golgi SNAP receptor complex member 2

OMIM:620166

NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919

HCCS

holocytochrome c synthase

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

HLCS

holocarboxylase synthetase

ORPHA:79242

NCBI chr21:36,748,625...36,990,211
Ensembl chr21:36,748,626...36,990,236

HMGCR

3-hydroxy-3-methylglutaryl-CoA reductase

OMIM:620375

NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001

IDH1

isocitrate dehydrogenase (NADP(+)) 1

ORPHA:99646

NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074

IFIH1

interferon induced with helicase C domain 1

OMIM:619773

NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684

interferon gamma

NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740

IFT52

intraflagellar transport 52

OMIM:617102

NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299

IFT81

intraflagellar transport 81

OMIM:617895

NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793

IGHMBP2

immunoglobulin mu DNA binding protein 2

ClinVar Annotator: match by term: Respiratory distress

PMID:14681881 PMID:25326637 PMID:25439726 PMID:25568292 PMID:25741868 More...

NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602

IL1RN

interleukin 1 receptor antagonist

OMIM:612852

NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016

IL6ST

interleukin 6 cytokine family signal transducer

OMIM:619751 ORPHA:3206

NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022

ITGA3

integrin subunit alpha 3

OMIM:614748

NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481

KAT6A

lysine acetyltransferase 6A

OMIM:616268

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

KATNB1

katanin regulatory subunit B1

ORPHA:89844

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

KCNA1

potassium voltage-gated channel subfamily A member 1

ORPHA:37612

NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256

KLHL7

kelch like family member 7

OMIM:617055

NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914

keratin 16

NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899

keratin 17

NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842

keratin 6A

NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257

keratin 6B

NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146

LAMA3

laminin subunit alpha 3

NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222

LAMB2

laminin subunit beta 2

NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118

LAMB3

laminin subunit beta 3

NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425

LAMC2

laminin subunit gamma 2

NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127

LGI4

leucine rich repeat LGI family member 4

ORPHA:2680

NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451

LIFR

LIF receptor subunit alpha

ORPHA:3206

NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354

lin-28 homolog B

NCBI chr 6:104,937,026...105,083,332
Ensembl chr 6:104,936,616...105,083,332

lamin A/C

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

LIM domain only 1

NCBI chr11:8,224,309...8,268,787
Ensembl chr11:8,224,309...8,268,716

LONP1

lon peptidase 1, mitochondrial

ORPHA:2140

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

LRP12

LDL receptor related protein 12

OMIM:164310

NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258

LYRM4

LYR motif containing 4

OMIM:615595

NCBI chr 6:5,031,753...5,260,950
Ensembl chr 6:5,103,629...5,260,950

MAPT

microtubule associated protein tau

ORPHA:240085 ORPHA:240103

NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334

MEGF10

multiple EGF like domains 10

OMIM:614399

NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737

MGAT2

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

ORPHA:79329

NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481

MMAA

metabolism of cobalamin associated A

OMIM:251100

NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033

MMAB

metabolism of cobalamin associated B

OMIM:251110

NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580

MMACHC

metabolism of cobalamin associated C

ORPHA:79282

NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382

MMUT

methylmalonyl-CoA mutase

OMIM:251000 ORPHA:289916 ORPHA:79312

NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253

MOGS

mannosyl-oligosaccharide glucosidase

ORPHA:79330

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

MPC1

mitochondrial pyruvate carrier 1

OMIM:614741

NCBI chr 6:166,364,919...166,382,940
Ensembl chr 6:166,364,919...166,383,013

MPV17

mitochondrial inner membrane protein MPV17

OMIM:256810

NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680

MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

MT-ATP8

mitochondrially encoded ATP synthase membrane subunit 8

NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572

MT-TE

mitochondrially encoded tRNA-Glu (GAA/G)

ORPHA:254864 ORPHA:2596

NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742

MT-TN

mitochondrially encoded tRNA-Asn (AAU/C)

NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729

MT-TS1

mitochondrially encoded tRNA-Ser (UCN) 1

NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514

MTHFR

methylenetetrahydrofolate reductase

susceptibility

associated with Kidney Failure, Chronic;DNA:transition:cds:g.677C>T (rs1801133)

RGD

PMID:19272686

RGD:6893548

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

myotubularin 1

NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143

MTR

5-methyltetrahydrofolate-homocysteine methyltransferase

OMIM:250940

NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278

myosin binding protein C3

OMIM:115197

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

MYCN

MYCN proto-oncogene, bHLH transcription factor

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

NAGS

N-acetylglutamate synthase

OMIM:237310 ORPHA:927

NCBI chr17:44,004,622...44,009,068
Ensembl chr17:44,004,622...44,009,068

NDE1

nudE neurodevelopment protein 1

ORPHA:89844

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

NDUFA8

NADH:ubiquinone oxidoreductase subunit A8

OMIM:619272

NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779

NDUFB11

NADH:ubiquinone oxidoreductase subunit B11

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

NEMF

nuclear export mediator factor

OMIM:619099

NCBI chr14:49,782,083...49,852,788
Ensembl chr14:49,782,083...49,852,821

N-glycanase 1

NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039

NKX2-1

NK2 homeobox 1

OMIM:610978 ORPHA:209905

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

nucleoporin 214

NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663

ORC1

origin recognition complex subunit 1

OMIM:224690 ORPHA:2554

NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423

ORC4

origin recognition complex subunit 4

NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604

ORC6

origin recognition complex subunit 6

NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394

OTX2

orthodenticle homeobox 2

ORPHA:990

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

PHOX2B

paired like homeobox 2B

NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725

PIK3CG

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

severity

DNA:misense mutation, substitution:cds:S1635Y, D2850D (rs17847825, rs2230460 ) (human)

RGD

PMID:29867955

RGD:38599181

NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980

PLCB4

phospholipase C beta 4

OMIM:614669 ORPHA:137888

NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593

phosphomannomutase 2

NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534

PMP22

peripheral myelin protein 22

ClinVar Annotator: match by term: Shortness of breath

PMID:25741868

NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292

POMT1

protein O-mannosyltransferase 1

ORPHA:86812

NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806

PPP1R21

protein phosphatase 1 regulatory subunit 21

OMIM:619383

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

PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2

OMIM:261740

NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214

PRRX1

paired related homeobox 1

OMIM:202650 ORPHA:990

NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421

prosaposin

NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251

PUF60

poly(U) binding splicing factor 60

ORPHA:508488

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

PURA

purine rich element binding protein A

ORPHA:314655 ORPHA:438216

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

RALGAPA1

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Respiratory distress

PMID:32004447

NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304

REEP1

receptor accessory protein 1

OMIM:620011

NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083

reelin

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

RNF13

ring finger protein 13

ORPHA:544503

NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139

RPS26

ribosomal protein S26

OMIM:613309

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

RPS28

ribosomal protein S28

OMIM:606164

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

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

OMIM:612075

NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961

RUNX2

RUNX family transcription factor 2

OMIM:119600

NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349

SBDS

SBDS ribosome maturation factor

OMIM:260400

NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693

sodium voltage-gated channel alpha subunit 4

OMIM:620369

NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918

SCO2

synthesis of cytochrome C oxidase 2

OMIM:604377

NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461

SCYL2

SCY1 like pseudokinase 2

ORPHA:1143

NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715

SDCCAG8

SHH signaling and ciliogenesis regulator SDCCAG8

OMIM:615993

NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091

SDHA

succinate dehydrogenase complex flavoprotein subunit A

OMIM:613642

NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082

SERPING1

serpin family G member 1

ORPHA:100050

NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171

SERPINH1

serpin family H member 1

OMIM:613848

NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783

SETBP1

SET binding protein 1

ORPHA:798

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

SFTPC

surfactant protein C

ClinVar Annotator: match by term: Respiratory distress

HPO
ClinVar

PMID:25741868

OMIM:610913

NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479

SIK1

salt inducible kinase 1

OMIM:616341

NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131

SLC12A3

solute carrier family 12 member 3

ORPHA:358

NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850

SLC1A3

solute carrier family 1 member 3

NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334

SLC22A5

solute carrier family 22 member 5

OMIM:212140

NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613

SLC25A3

solute carrier family 25 member 3

ORPHA:91130

NCBI chr12:98,593,686...98,606,367
Ensembl chr12:98,593,591...98,606,379

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

SLC31A1

solute carrier family 31 member 1

OMIM:620306

NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492

SLC35A1

solute carrier family 35 member A1

ORPHA:238459

NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336

SLC52A3

solute carrier family 52 member 3

OMIM:211530

NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015

SNRPN

small nuclear ribonucleoprotein polypeptide N

ORPHA:177907

NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723

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

OMIM:260400

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

SSR4

signal sequence receptor subunit 4

OMIM:300934

NCBI chr X:153,794,159...153,798,512
Ensembl chr X:153,793,516...153,798,499

STAT5B

signal transducer and activator of transcription 5B

OMIM:245590

NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633

STT3B

STT3 oligosaccharyltransferase complex catalytic subunit B

OMIM:615597 ORPHA:370924

NCBI chr 3:31,532,925...31,637,616
Ensembl chr 3:31,532,638...31,637,616

SUCLG1

succinate-CoA ligase GDP/ADP-forming subunit alpha

ORPHA:17

NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045

SURF1

SURF1 cytochrome c oxidase assembly factor

NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676

SYT2

synaptotagmin 2

ClinVar Annotator: match by term: Respiratory distress

NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454

TBC1D24

TBC1 domain family member 24

ORPHA:79500

NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560

TFAM

transcription factor A, mitochondrial

OMIM:617156

NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220

thymidine kinase 2

NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544

TOP2A

DNA topoisomerase II alpha

NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896

tumor protein p73

NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201

TPI1

triosephosphate isomerase 1

OMIM:615512

NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948

TRAK1

trafficking kinesin protein 1

OMIM:618201

NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890

TRIP11

thyroid hormone receptor interactor 11

OMIM:184260 ORPHA:166272

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

TRMT10C

tRNA methyltransferase 10C, mitochondrial RNase P subunit

OMIM:616974

NCBI chr 3:101,561,868...101,566,446
Ensembl chr 3:101,561,868...101,566,446

TRMU

tRNA mitochondrial 2-thiouridylase

ORPHA:254864

NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340

TRPV6

transient receptor potential cation channel subfamily V member 6

OMIM:618188

NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745

TSC1

TSC complex subunit 1

ORPHA:805

NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874

TSC2

TSC complex subunit 2

ORPHA:805

NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491

TUBB4A

tubulin beta 4A class IVa

ORPHA:98805

NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848

UBA1

ubiquitin like modifier activating enzyme 1

ORPHA:1145

NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128

UBE3B

ubiquitin protein ligase E3B

ORPHA:2707

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

USP9X

ubiquitin specific peptidase 9 X-linked

OMIM:300968 ORPHA:480880

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

VPS33A

VPS33A core subunit of CORVET and HOPS complexes

OMIM:617303 ORPHA:505248

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

WD repeat domain 45B

NCBI chr17:82,614,562...82,648,444
Ensembl chr17:82,614,562...82,648,553

XPNPEP2

X-prolyl aminopeptidase 2

ORPHA:100057

NCBI chr X:129,738,979...129,769,536
Ensembl chr X:129,738,949...129,769,536

YARS2

tyrosyl-tRNA synthetase 2

OMIM:613561

NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897

ZFPM2

zinc finger protein, FOG family member 2