Mortality/Aging - Ontology Report

OMIM:619059

NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543

desmoplakin

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

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

OMIM:610965

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

EXOC8

exocyst complex component 8

OMIM:619076

NCBI chr 1:231,332,753...231,337,852
Ensembl chr 1:231,332,753...231,337,852

fibrinogen alpha chain

NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742

fibrinogen beta chain

NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807

fibrinogen gamma chain

NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967

FHL1

four and a half LIM domains 1

OMIM:300717

NCBI chr X:136,146,702...136,211,359
Ensembl chr X:136,146,702...136,211,359

GFAP

glial fibrillary acidic protein

OMIM:203450

NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937

IL6ST

interleukin 6 cytokine family signal transducer

OMIM:619751

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

MADD

MAP kinase activating death domain

OMIM:619004

NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031

MALT1 paracaspase

NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477

MDFIC

MyoD family inhibitor domain containing

OMIM:620014

NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917

MFSD2A

MFSD2 lysolipid transporter A, lysophospholipid

OMIM:616486

NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968

OAS1

2'-5'-oligoadenylate synthetase 1

OMIM:618042

NCBI chr12:112,906,962...112,933,219
Ensembl chr12:112,905,856...112,933,219

PET100 cytochrome c oxidase chaperone

NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956

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

PSMB8

proteasome 20S subunit beta 8

OMIM:256040

NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679

SATB homeobox 1

NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621

SLC25A22

solute carrier family 25 member 22

OMIM:609304

NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281

sclerostin

NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791

TPI1

triosephosphate isomerase 1

OMIM:615512

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

Death in childhood

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AARS2

alanyl-tRNA synthetase 2, mitochondrial

OMIM:614096

NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347

ABAT

4-aminobutyrate aminotransferase

OMIM:613163

NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575

ABCB11

ATP binding cassette subfamily B member 11

OMIM:601847

NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324

ACAD9

acyl-CoA dehydrogenase family member 9

OMIM:611126

NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003

ACTA1

actin alpha 1, skeletal muscle

OMIM:620265 OMIM:620278

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

actin like 6B

NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448

adenylate cyclase 5

NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090

ALG11

ALG11 alpha-1,2-mannosyltransferase

OMIM:613661

NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232

AP1S1

adaptor related protein complex 1 subunit sigma 1

OMIM:609313

NCBI chr 7:101,154,476...101,161,276
Ensembl chr 7:101,154,456...101,161,596

ARHGEF9

Cdc42 guanine nucleotide exchange factor 9

OMIM:300607

NCBI chr X:63,634,967...63,785,214
Ensembl chr X:63,634,967...63,809,274

autophagy related 7

NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

OMIM:619605

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

ATP5MK

ATP synthase membrane subunit k

OMIM:618683

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

ATP7A

ATPase copper transporting alpha

OMIM:309400

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

ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2

OMIM:604273

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

C18orf32

chromosome 18 open reading frame 32

OMIM:619985

NCBI chr18:49,477,243...49,487,234
Ensembl chr18:49,477,243...49,487,252

C2orf69

chromosome 2 open reading frame 69

OMIM:619423

NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935

CAD

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

OMIM:616457

NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943

CAMSAP1

calmodulin regulated spectrin associated protein 1

OMIM:620316

NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546

CD3G

CD3 gamma subunit of T-cell receptor complex

OMIM:615607

NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161

CLCN3

chloride voltage-gated channel 3

OMIM:619517

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

COX5A

cytochrome c oxidase subunit 5A

OMIM:619064

NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083

CRPPA

CDP-L-ribitol pyrophosphorylase A

OMIM:614643

NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504

DKC1

dyskerin pseudouridine synthase 1

OMIM:301108

NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689

DLD

dihydrolipoamide dehydrogenase

OMIM:246900

NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730

DPH1

diphthamide biosynthesis 1

OMIM:616901

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

DTYMK

deoxythymidylate kinase

OMIM:619847

NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944

EFEMP2

EGF containing fibulin extracellular matrix protein 2

OMIM:614437

NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592

EFL1

elongation factor like GTPase 1

OMIM:617941

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

ELAC2

elaC ribonuclease Z 2

OMIM:615440

NCBI chr17:12,991,612...13,018,027
Ensembl chr17:12,991,612...13,018,065

ELOVL4

ELOVL fatty acid elongase 4

OMIM:614457

NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

OMIM:610758

NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

OMIM:610756

NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918

ERCC6

ERCC excision repair 6, chromatin remodeling factor

OMIM:133540 OMIM:214150

NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538

exosome component 8

NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881

FADD

Fas associated via death domain

OMIM:613759

NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390

FARS2

phenylalanyl-tRNA synthetase 2, mitochondrial

OMIM:614946

NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192

FCHO1

FCH and mu domain containing endocytic adaptor 1

OMIM:619164

NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568

fibrinogen alpha chain

NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742

fibrinogen beta chain

NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807

fibrinogen gamma chain

NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967

FKRP

fukutin related protein

OMIM:613153

NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988

FTO

FTO alpha-ketoglutarate dependent dioxygenase

OMIM:612938

NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512

GAD1

glutamate decarboxylase 1

OMIM:619124

NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151

GFAP

glial fibrillary acidic protein

OMIM:203450

NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937

GFM2

GTP dependent ribosome recycling factor mitochondrial 2

OMIM:618397

NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147

GNPTAB

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

OMIM:252500

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

HEXB

hexosaminidase subunit beta

OMIM:268800

NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase

OMIM:246450

NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620

junctophilin 2

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

KARS1

lysyl-tRNA synthetase 1

OMIM:619147

NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643

keratin 5

NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530

LAMA3

laminin subunit alpha 3

OMIM:619784

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

LAMB2

laminin subunit beta 2

OMIM:609049

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

LAT

linker for activation of T cells

OMIM:617514

NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784

LTBP4

latent transforming growth factor beta binding protein 4

OMIM:613177

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

LYRM7

LYR motif containing 7

OMIM:615838

NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428

MADD

MAP kinase activating death domain

OMIM:619004 OMIM:619005

NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031

MBTPS2

membrane bound transcription factor peptidase, site 2

OMIM:308205

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

MFF

mitochondrial fission factor

OMIM:617086

NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833

MFSD2A

MFSD2 lysolipid transporter A, lysophospholipid

OMIM:616486

NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968

MPI

mannose phosphate isomerase

OMIM:602579

NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219

MRM2

mitochondrial rRNA methyltransferase 2

OMIM:618567

NCBI chr 7:2,234,195...2,242,205
Ensembl chr 7:2,234,195...2,242,205

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-TN

mitochondrially encoded tRNA-Asn (AAU/C)

OMIM:220110

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

MT-TS1

mitochondrially encoded tRNA-Ser (UCN) 1

OMIM:220110

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

metaxin 2

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

NADK2

NAD kinase 2, mitochondrial

OMIM:616034

NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279

NAD(P)HX dehydratase

NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996

NAD(P)HX epimerase

NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,756...156,609,507

NDUFB8

NADH:ubiquinone oxidoreductase subunit B8

OMIM:618252

NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,740...100,530,000

NDUFS7

NADH:ubiquinone oxidoreductase core subunit S7

OMIM:618224

NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589

NDUFV1

NADH:ubiquinone oxidoreductase core subunit V1

OMIM:618225

NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554

nebulin

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

nuclear factor I X

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

NHLRC2

NHL repeat containing 2

OMIM:618278

NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194

NOP10

NOP10 ribonucleoprotein

OMIM:620425

NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180

NPC2

NPC intracellular cholesterol transporter 2

OMIM:607625

NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177

nucleoporin 214

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

OAS1

2'-5'-oligoadenylate synthetase 1

OMIM:618042

NCBI chr12:112,906,962...112,933,219
Ensembl chr12:112,905,856...112,933,219

OGDH

oxoglutarate dehydrogenase

OMIM:203740

NCBI chr 7:44,606,627...44,709,066
Ensembl chr 7:44,606,572...44,709,066

PAM16

presequence translocase associated motor 16

OMIM:613320

NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607

PET100 cytochrome c oxidase chaperone

NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956

PEX1

peroxisomal biogenesis factor 1

OMIM:214100

NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520

PEX2

peroxisomal biogenesis factor 2

OMIM:614867

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

PIGY

phosphatidylinositol glycan anchor biosynthesis class Y

OMIM:616809

NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776

PLCB3

phospholipase C beta 3

OMIM:618961

NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,530...64,269,150

phosphomannomutase 2

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

POT1

protection of telomeres 1

OMIM:620368

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

PPCS

phosphopantothenoylcysteine synthetase

OMIM:618189

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

PQBP1

polyglutamine binding protein 1

OMIM:309500

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

PRPS1

phosphoribosyl pyrophosphate synthetase 1

OMIM:300661

NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993

PTPRC

protein tyrosine phosphatase receptor type C

OMIM:619924

NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,757,476

RAB27A

RAB27A, member RAS oncogene family

OMIM:607624

NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113

RARS2

arginyl-tRNA synthetase 2, mitochondrial

OMIM:611523

NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028

RBMX

RNA binding motif protein X-linked

OMIM:309555

NCBI chr X:136,869,192...136,880,725
Ensembl chr X:136,848,004...136,880,764

RAD50 interactor 1

NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,169...105,567,677

required for meiotic nuclear division 1 homolog

NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158

RNASEH2A

ribonuclease H2 subunit A

OMIM:610333

NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640

RNASEH2C

ribonuclease H2 subunit C

OMIM:610329

NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818

RNU4ATAC

RNA, U4atac small nuclear

OMIM:210710

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

RRAGC

Ras related GTP binding C

OMIM:620609

NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772

SCN1B

sodium voltage-gated channel beta subunit 1

OMIM:617350

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

SCYL2

SCY1 like pseudokinase 2

OMIM:618766

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

SEC31A

SEC31 homolog A, COPII coat complex component

OMIM:618651

NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166

SERPINH1

serpin family H member 1

OMIM:613848

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

SLC17A5

solute carrier family 17 member 5

OMIM:269920

NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992

SLC25A22

solute carrier family 25 member 22

OMIM:609304

NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281

SLC33A1

solute carrier family 33 member 1

OMIM:614482

NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456

SLC52A3

solute carrier family 52 member 3

OMIM:211530

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

SMARCD2

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

OMIM:617475

NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065

SMN1

survival of motor neuron 1, telomeric

OMIM:253300

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

SNAP29

synaptosome associated protein 29

OMIM:609528

NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214

STT3B

STT3 oligosaccharyltransferase complex catalytic subunit B

OMIM:615597

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

OMIM:245400

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

OMIM:220110

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

TIMMDC1

translocase of inner mitochondrial membrane domain containing 1

OMIM:618251

NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090

thymidine kinase 2

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

TMEM70

transmembrane protein 70

OMIM:614052

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

TNFRSF11A

TNF receptor superfamily member 11a

OMIM:612301

NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288

TPP2

tripeptidyl peptidase 2

OMIM:619220

NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958

TSEN2

tRNA splicing endonuclease subunit 2

OMIM:612389

NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549

TSEN54

tRNA splicing endonuclease subunit 54

OMIM:277470

NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735

TSFM

Ts translation elongation factor, mitochondrial

OMIM:610505

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

TTC7A

tetratricopeptide repeat domain 7A

OMIM:243150

NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137

UBR1

ubiquitin protein ligase E3 component n-recognin 1

OMIM:243800

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

VPS33A

VPS33A core subunit of CORVET and HOPS complexes

OMIM:617303

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

VPS50

VPS50 subunit of EARP/GARPII complex

OMIM:619685

NCBI chr 7:93,232,366...93,361,123
Ensembl chr 7:93,232,340...93,361,123

WT1 transcription factor

OMIM:608978

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

ZNFX1

zinc finger NFX1-type containing 1

OMIM:619644

NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426

Death in early adulthood

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

actin beta

NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902

APP

amyloid beta precursor protein

ORPHA:100006

NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128

BAZ1B

bromodomain adjacent to zinc finger domain 1B

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

BCL7B

BAF chromatin remodeling complex subunit BCL7B

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

BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ORPHA:53693

NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

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

CLIP2

CAP-Gly domain containing linker protein 2

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

cystatin C

NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

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

desmoplakin

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

EIF4H

eukaryotic translation initiation factor 4H

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

elastin

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

EPCAM

epithelial cell adhesion molecule

NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601

FAN1

FANCD2 and FANCI associated nuclease 1

NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

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

GTF2I

general transcription factor IIi

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

GTF2IRD1

GTF2I repeat domain containing 1

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

GTF2IRD2

GTF2I repeat domain containing 2

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

KRAS

KRAS proto-oncogene, GTPase

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

LAMC2

laminin subunit gamma 2

OMIM:619786

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

LIM domain kinase 1

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

LOC114827850

VISTA enhancer hs2149

ClinVar Annotator: match by term: Death in early adulthood

PMID:203862 PMID:08673105 PMID:9724616 PMID:10948063 PMID:11102452 More...

NCBI chr12:110,918,953...110,921,387

METTL27

methyltransferase like 27

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

mutL homolog 1

NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896

mutL homolog 3

NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532

MLXIPL

MLX interacting protein like

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

mutS homolog 2

NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146

mutS homolog 6

NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063

myosin heavy chain 7

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

MYL2

myosin light chain 2

ClinVar Annotator: match by term: Death in early adulthood

PMID:203862 PMID:08673105 PMID:9724616 PMID:10948063 PMID:11102452 More...

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

NCF1

neutrophil cytosolic factor 1

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

PIK3CA

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

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

PMS1

PMS1 homolog 1, mismatch repair system component

NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629

PMS2

PMS1 homolog 2, mismatch repair system component

NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130

POLG

DNA polymerase gamma, catalytic subunit

OMIM:603041

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

POLR3A

RNA polymerase III subunit A

OMIM:607694

NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522

POLR3B

RNA polymerase III subunit B

OMIM:607694

NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198

RFC2

replication factor C subunit 2

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

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

SCN1B

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Death in early adulthood

PMID:19808477 PMID:24033266 PMID:24055113 PMID:25741868 PMID:27435932 More...

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

SCN4A

sodium voltage-gated channel alpha subunit 4

ORPHA:682

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

SCN5A

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Death in early adulthood

PMID:11997281 PMID:14760488 PMID:15840476 PMID:18071069 PMID:19716085 More...

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

SLC9A6

solute carrier family 9 member A6

ORPHA:85278

NCBI chr X:135,973,837...136,047,269
Ensembl chr X:135,973,841...136,047,269

syntaxin 1A

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

TBL2

transducin beta like 2

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

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

TMEM270

transmembrane protein 270

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

TYMP

thymidine phosphorylase

OMIM:603041

NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032

VPS37D

VPS37D subunit of ESCRT-I

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

VPS4A

vacuolar protein sorting 4 homolog A

OMIM:619273

NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,350...69,326,939

ZMPSTE24

zinc metallopeptidase STE24

OMIM:608612

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

Death in infancy

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AARS2

alanyl-tRNA synthetase 2, mitochondrial

OMIM:614096

NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347

ABCA12

ATP binding cassette subfamily A member 12

OMIM:242500

NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626

ABCA3

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

ACAD9

acyl-CoA dehydrogenase family member 9

OMIM:611126

NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003

ACADVL

acyl-CoA dehydrogenase very long chain

OMIM:201475

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

acyl-CoA oxidase 1

NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177

ACTA1

actin alpha 1, skeletal muscle

OMIM:620265 OMIM:620278

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

ACTG2

actin gamma 2, smooth muscle

ORPHA:2241

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

adenylate cyclase 6

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

AFF3

ALF transcription elongation factor 3

OMIM:619297

NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428

AIMP1

aminoacyl tRNA synthetase complex interacting multifunctional protein 1

OMIM:260600

NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456

AIMP2

aminoacyl tRNA synthetase complex interacting multifunctional protein 2

OMIM:618006

NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834

ALG1

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

OMIM:608540

NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379

ALG14

ALG14 UDP-N-acetylglucosaminyltransferase subunit

OMIM:619036

NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951

ALG8

ALG8 alpha-1,3-glucosyltransferase

OMIM:608104

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

ALPL

alkaline phosphatase, biomineralization associated

OMIM:241500

NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410

ANK2

ankyrin 2

ClinVar Annotator: match by term: Lethal in infancy

PMID:15075330 PMID:15178757 PMID:16253912 PMID:18782775 PMID:22581653 More...

NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221

ANTXR2

ANTXR cell adhesion molecule 2

ORPHA:2028

NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454

AP1S1

adaptor related protein complex 1 subunit sigma 1

OMIM:609313

NCBI chr 7:101,154,476...101,161,276
Ensembl chr 7:101,154,456...101,161,596

ARX

aristaless related homeobox

ORPHA:452

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

ASCL1

achaete-scute family bHLH transcription factor 1

ORPHA:99803

NCBI chr12:102,957,674...102,960,513
Ensembl chr12:102,957,674...102,960,513

ASXL3

ASXL transcriptional regulator 3

OMIM:615485

NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

OMIM:619605

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

ATP6AP1

ATPase H+ transporting accessory protein 1

OMIM:300972

NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516

ATRX

ATRX chromatin remodeler

ORPHA:847

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

BMPR1B

bone morphogenetic protein receptor type 1B

ORPHA:2098

NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448

bolA family member 3

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

BRAT1

BRCA1 associated ATM activator 1

OMIM:614498

NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694

C2orf69

chromosome 2 open reading frame 69

OMIM:619423

NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935

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

CD3G

CD3 gamma subunit of T-cell receptor complex

OMIM:615607

NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161

CD96 molecule

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

CDC40

cell division cycle 40

OMIM:619302

NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275

CDK5

cyclin dependent kinase 5

OMIM:616342

NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897

CDON

cell adhesion associated, oncogene regulated

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

CLCF1

cardiotrophin like cytokine factor 1

ORPHA:1545

NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177

contactin 1

NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415

Coenzyme A synthase

NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277

COG6

component of oligomeric golgi complex 6

OMIM:614576

NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665

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

COX10

cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10

OMIM:619046

NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736

COX11

cytochrome c oxidase copper chaperone COX11

OMIM:620275

NCBI chr17:54,951,902...54,968,785
Ensembl chr17:54,951,902...54,968,703

COX16

cytochrome c oxidase assembly factor COX16

OMIM:619355

NCBI chr14:70,325,081...70,359,683
Ensembl chr14:70,325,081...70,416,984

COX5A

cytochrome c oxidase subunit 5A

OMIM:619064

NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083

CPT2

carnitine palmitoyltransferase 2

OMIM:608836

NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197

CRIPT

CXXC repeat containing interactor of PDZ3 domain

OMIM:615789

NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,630,176

CRLF1

cytokine receptor like factor 1

ORPHA:1545

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

CRLS1

cardiolipin synthase 1

OMIM:620167

NCBI chr20:6,005,938...6,040,053
Ensembl chr20:6,006,093...6,040,053

CRPPA

CDP-L-ribitol pyrophosphorylase A

OMIM:614643

NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504

CRTAP

cartilage associated protein

OMIM:610682

NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773

crystallin alpha B

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

doublecortin

NCBI chr X:111,293,779...111,412,192
Ensembl chr X:111,293,779...111,412,429

DHCR7

7-dehydrocholesterol reductase

OMIM:270400

NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868

DLL3

delta like canonical Notch ligand 3

OMIM:277300

NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481

dynamin 1 like

NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650

dynamin 2

NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488

dolichol kinase

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

DPH1

diphthamide biosynthesis 1

OMIM:616901

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

DPH5

diphthamide biosynthesis 5

OMIM:620070

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

DPM2

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

OMIM:615042

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

DPYSL5

dihydropyrimidinase like 5

ORPHA:7

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

DYNLT2B

dynein light chain Tctex-type 2B

OMIM:617405

NCBI chr 3:196,291,219...196,318,240
Ensembl chr 3:196,291,219...196,318,299

ECHS1

enoyl-CoA hydratase, short chain 1

OMIM:616277

NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354

EFL1

elongation factor like GTPase 1

OMIM:617941

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

ELAC2

elaC ribonuclease Z 2

OMIM:615440

NCBI chr17:12,991,612...13,018,027
Ensembl chr17:12,991,612...13,018,065

EMG1

EMG1 N1-specific pseudouridine methyltransferase

ORPHA:1270

NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936

EPCAM

epithelial cell adhesion molecule

NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601

EPG5

ectopic P-granules 5 autophagy tethering factor

ORPHA:1493

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

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

ORPHA:1466

NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

OMIM:601675 ORPHA:1466

NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918

ERCC5

ERCC excision repair 5, endonuclease

ORPHA:1466

NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995

ERCC6

ERCC excision repair 6, chromatin remodeling factor

ORPHA:1466

NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538

ETHE1

ETHE1 persulfide dioxygenase

OMIM:602473

NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230

EXTL3

exostosin like glycosyltransferase 3

OMIM:617425

NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561

FAM111A

FAM111 trypsin like peptidase A

OMIM:602361

NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039

FAM20C

FAM20C golgi associated secretory pathway kinase

OMIM:259775

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

FAN1

FANCD2 and FANCI associated nuclease 1

NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108

FANCB

FA complementation group B

OMIM:300514

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

FARS2

phenylalanyl-tRNA synthetase 2, mitochondrial

OMIM:614946

NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192

fibrinogen alpha chain

NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742

fibrinogen beta chain

NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807

FGFR3

fibroblast growth factor receptor 3

OMIM:100800

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

fibrinogen gamma chain

NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967

FLI1

Fli-1 proto-oncogene, ETS transcription factor

ORPHA:2308

NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267

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

FXR1

FMR1 autosomal homolog 1

OMIM:618822

NCBI chr 3:180,912,670...180,982,753
Ensembl chr 3:180,868,141...180,982,753

GATC

glutamyl-tRNA amidotransferase subunit C

OMIM:618839

NCBI chr12:120,446,444...120,463,749
Ensembl chr12:120,446,444...120,463,749

GBA1

glucosylceramidase beta 1

OMIM:230900 ORPHA:85212

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

GDF5

growth differentiation factor 5

OMIM:200700 ORPHA:2098

NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746

GFAP

glial fibrillary acidic protein

OMIM:203450

NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937

galactosidase beta 1

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

GLDC

glycine decarboxylase

OMIM:605899

NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,467...6,645,729

glypican 3

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

glypican 4

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

GPD1L

glycerol-3-phosphate dehydrogenase 1 like

ClinVar Annotator: match by term: Death in infancy

PMID:11839626 PMID:17967977 PMID:19666841 PMID:19745168 PMID:20724705 More...

NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709

GPR161

G protein-coupled receptor 161

NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667

GRIP1

glutamate receptor interacting protein 1

ORPHA:2052

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

GRM7

glutamate metabotropic receptor 7

OMIM:618922

NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533

HADHB

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

OMIM:620300

NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465

HDAC6

histone deacetylase 6

ORPHA:163966

NCBI chr X:48,801,398...48,824,982
Ensembl chr X:48,801,377...48,824,982

HESX homeobox 1

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

HSD17B4

hydroxysteroid 17-beta dehydrogenase 4

severity

DNA:mutations:multiple

RGD

PMID:16385454

RGD:10411884

NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199

HSPG2

heparan sulfate proteoglycan 2

ORPHA:800

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

HTRA2

HtrA serine peptidase 2

OMIM:617248

NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350

alpha-L-iduronidase

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

IKBKB

inhibitor of nuclear factor kappa B kinase subunit beta

OMIM:615592

NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460

ISCA2

iron-sulfur cluster assembly 2

ClinVar Annotator: match by term: Death in infancy

PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29122497 More...

NCBI chr14:74,493,765...74,497,106
Ensembl chr14:74,493,756...74,497,106

ITGB4

integrin subunit beta 4

OMIM:226730

NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818

ITPA

inosine triphosphatase

OMIM:616647

NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870

JAM3

junctional adhesion molecule 3

OMIM:613730

NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001

junctophilin 2

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

KIF20A

kinesin family member 20A

OMIM:619433

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

KLHL40

kelch like family member 40

OMIM:615348

NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544

KRAS

KRAS proto-oncogene, GTPase

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

keratin 5

NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530

LAMA3

laminin subunit alpha 3

OMIM:226700 OMIM:619784

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

LAMB3

laminin subunit beta 3

OMIM:226700

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

LAMC2

laminin subunit gamma 2

OMIM:226700 OMIM:619786

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

LAT

linker for activation of T cells

OMIM:617514

NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784

LIM homeobox 4

NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984

LIFR

LIF receptor subunit alpha

OMIM:601559

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

LIPA

lipase A, lysosomal acid type

OMIM:278000 OMIM:620151

NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557

lipoyltransferase 1

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

LIPT2

lipoyl(octanoyl) transferase 2

OMIM:617668

NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724

lamin A/C

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

leiomodin 1

NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548

leiomodin 3

NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032

LRPPRC

leucine rich pentatricopeptide repeat containing

OMIM:220111

NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226

LTBP4

latent transforming growth factor beta binding protein 4

OMIM:613177

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

LTC4S

leukotriene C4 synthase

OMIM:614037

NCBI chr 5:179,793,986...179,796,647
Ensembl chr 5:179,793,980...179,796,647

MADD

MAP kinase activating death domain

OMIM:619004

NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031

MBTPS2

membrane bound transcription factor peptidase, site 2

OMIM:308205

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

MESP2

mesoderm posterior bHLH transcription factor 2

OMIM:277300

NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754

mutL homolog 1

NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896

mutL homolog 3

NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532

MPDU1

mannose-P-dolichol utilization defect 1

OMIM:609180

NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789

MRPL44

mitochondrial ribosomal protein L44

OMIM:615395

NCBI chr 2:223,950,854...223,967,714
Ensembl chr 2:223,957,463...223,967,714

MRPS22

mitochondrial ribosomal protein S22

OMIM:611719

NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497

MRPS34

mitochondrial ribosomal protein S34

OMIM:617664

NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150

mutS homolog 2

NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146

mutS homolog 6

NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063

MYH11

myosin heavy chain 11

ORPHA:2241

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

myosin light chain 1

NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174

MYL2

myosin light chain 2

ClinVar Annotator: match by term: Death in infancy

HPO
ClinVar

PMID:8673105 PMID:11102452 PMID:11748309 PMID:12668451 PMID:14594949 More...

OMIM:619424

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

MYLK

myosin light chain kinase

ORPHA:2241

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

myosin VB

NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164

NADK2

NAD kinase 2, mitochondrial

OMIM:616034

NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279

NAD synthetase 1

NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107

NDUFA2

NADH:ubiquinone oxidoreductase subunit A2

OMIM:618235

NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771

NDUFAF3

NADH:ubiquinone oxidoreductase complex assembly factor 3

OMIM:618240

NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495

NDUFS4

NADH:ubiquinone oxidoreductase subunit S4

OMIM:252010

NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338

NDUFV2

NADH:ubiquinone oxidoreductase core subunit V2

OMIM:618229

NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345

nebulin

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

NFS1

NFS1 cysteine desulfurase

OMIM:619386

NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355

NFU1

NFU1 iron-sulfur cluster scaffold

OMIM:605711

NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628

NPC2

NPC intracellular cholesterol transporter 2

OMIM:607625

NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177

NR1H4

nuclear receptor subfamily 1 group H member 4

OMIM:617049

NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414

NRAS

NRAS proto-oncogene, GTPase

OMIM:249400

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

NSF

N-ethylmaleimide sensitive factor, vesicle fusing ATPase

OMIM:619340

NCBI chr17:46,590,669...46,757,464
Ensembl chr17:46,590,669...46,757,679

nucleoporin 214

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

nucleoredoxin

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

OAS1

2'-5'-oligoadenylate synthetase 1

OMIM:618042

NCBI chr12:112,906,962...112,933,219
Ensembl chr12:112,905,856...112,933,219

OCRL

OCRL inositol polyphosphate-5-phosphatase

ORPHA:534

NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561

ORAI1

ORAI calcium release-activated calcium modulator 1

OMIM:612782

NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218

ORC1

origin recognition complex subunit 1

OMIM:224690

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

PAM16

presequence translocase associated motor 16

OMIM:613320

NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607

PET100 cytochrome c oxidase chaperone

NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956

PEX1

peroxisomal biogenesis factor 1

NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520

PEX10

peroxisomal biogenesis factor 10

NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797

PEX11B

peroxisomal biogenesis factor 11 beta

NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717

PEX12

peroxisomal biogenesis factor 12

NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863

PEX13

peroxisomal biogenesis factor 13

NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990

PEX14

peroxisomal biogenesis factor 14

NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758

PEX16

peroxisomal biogenesis factor 16

OMIM:614876 ORPHA:912

NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812

PEX19

peroxisomal biogenesis factor 19

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

PEX2

peroxisomal biogenesis factor 2

OMIM:614866 ORPHA:912

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

PEX26

peroxisomal biogenesis factor 26

OMIM:614872 ORPHA:912

NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396

PEX3

peroxisomal biogenesis factor 3

OMIM:614882 ORPHA:912

NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616

PEX5

peroxisomal biogenesis factor 5

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

PEX6

peroxisomal biogenesis factor 6

OMIM:614862 ORPHA:912

NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181

PHOX2B

paired like homeobox 2B

ORPHA:99803

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

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

OMIM:300868

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

PIGB

phosphatidylinositol glycan anchor biosynthesis class B

OMIM:618580

NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648

PIGY

phosphatidylinositol glycan anchor biosynthesis class Y

OMIM:616809

NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776

PIK3CA

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

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

plectin

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

PLVAP

plasmalemma vesicle associated protein

OMIM:618183

NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342

plexin D1

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

phosphomannomutase 2

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

PMS1

PMS1 homolog 1, mismatch repair system component

NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629

PMS2

PMS1 homolog 2, mismatch repair system component

NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130

POMT2

protein O-mannosyltransferase 2

OMIM:613150

NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883

PPCS

phosphopantothenoylcysteine synthetase

OMIM:618189

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

PPIL1

peptidylprolyl isomerase like 1

OMIM:619301

NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803

PQBP1

polyglutamine binding protein 1

ORPHA:93946

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

PROKR2

prokineticin receptor 2

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

PRPS1

phosphoribosyl pyrophosphate synthetase 1

OMIM:301835

NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993

PSAP

prosaposin

OMIM:611721 OMIM:611722 ORPHA:139406

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

PSAT1

phosphoserine aminotransferase 1

OMIM:610992

NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093

PTF1A

pancreas associated transcription factor 1a

OMIM:609069

NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245

QRSL1

glutaminyl-tRNA amidotransferase subunit QRSL1

OMIM:618835

NCBI chr 6:106,629,578...106,668,417
Ensembl chr 6:106,629,578...106,668,417

RAD51 paralog C

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

RBM8A

RNA binding motif protein 8A

OMIM:274000

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

ret proto-oncogene

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

REV3L

REV3 like, DNA directed polymerase zeta catalytic subunit

ORPHA:570

NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715

required for meiotic nuclear division 1 homolog

NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158

RNU4ATAC

RNA, U4atac small nuclear

OMIM:210710

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

ROBO1

roundabout guidance receptor 1

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

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

RPL3L

ribosomal protein L3 like

OMIM:619371

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

RYR2

ryanodine receptor 2

ClinVar Annotator: match by term: Death in infancy

PMID:19926015 PMID:20157052 PMID:22374134 PMID:22515980 PMID:22677073 More...

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

SCN3B

sodium voltage-gated channel beta subunit 3

ClinVar Annotator: match by term: Death in infancy

PMID:23257389 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27435932 More...

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

SCN4A

sodium voltage-gated channel alpha subunit 4

ORPHA:682

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

SCN5A

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Death in infancy

PMID:11901046 PMID:11997281 PMID:14753626 PMID:14760488 PMID:15840476 More...

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

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

OMIM:618766

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

surfactant protein B

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

SIK1

salt inducible kinase 1

OMIM:616341

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

SLC25A19

solute carrier family 25 member 19

ORPHA:99742

NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510

SLC25A24

solute carrier family 25 member 24

OMIM:612289

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

SLC25A4

solute carrier family 25 member 4

OMIM:617184

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

SLC25A46

solute carrier family 25 member 46

OMIM:619303

NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161

SLC26A2

solute carrier family 26 member 2

OMIM:256050

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

SMARCD2

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

OMIM:617475

NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065

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

SMOC1

SPARC related modular calcium binding 1

ORPHA:1106

NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366

SMPD4

sphingomyelin phosphodiesterase 4

OMIM:618622

NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750

SNRPB

small nuclear ribonucleoprotein polypeptides B and B1

ORPHA:1393

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

SNTA1

syntrophin alpha 1

susceptibility

DNA:missense mutations:cds:multiple

RGD

PMID:20009079

RGD:6771369

NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763

STAT2

signal transducer and activator of transcription 2

OMIM:618886

NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203

syntaxin 3

NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882

SUCLG1

succinate-CoA ligase GDP/ADP-forming subunit alpha

OMIM:245400

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

sulfite oxidase

NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641

TFAM

transcription factor A, mitochondrial

OMIM:617156

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

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

TMEM260

transmembrane protein 260

OMIM:617478

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

TMEM70

transmembrane protein 70

ORPHA:1194

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

TNFRSF11A

TNF receptor superfamily member 11a

OMIM:612301

NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288

TOR1A

torsin family 1 member A

OMIM:618947

NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244

TPI1

triosephosphate isomerase 1

OMIM:615512

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

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

OMIM:613070

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

TSEN2

tRNA splicing endonuclease subunit 2

OMIM:612389

NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549

TSEN54

tRNA splicing endonuclease subunit 54

OMIM:225753

NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735

TSFM

Ts translation elongation factor, mitochondrial

OMIM:610505

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

TSPY like 1

NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930

TTC7A

tetratricopeptide repeat domain 7A

OMIM:243150

NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137

TUFM

Tu translation elongation factor, mitochondrial

OMIM:610678

NCBI chr16:28,842,411...28,846,348
Ensembl chr16:28,842,411...28,846,348

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

VIPAS39

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

OMIM:613404

NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952

VPS33B

VPS33B late endosome and lysosome associated

OMIM:208085

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

VPS35L

VPS35 endosomal protein sorting factor like

OMIM:619135 ORPHA:7

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

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

WD repeat domain 11

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

WT1 transcription factor

OMIM:608978

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

ZMIZ2

zinc finger MIZ-type containing 2

ClinVar Annotator: match by term: Death in infancy

NCBI chr 7:44,748,571...44,769,881
Ensembl chr 7:44,748,581...44,769,881

ZNFX1

zinc finger NFX1-type containing 1

OMIM:619644

NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426

Death in middle age

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

myosin heavy chain 6

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

TNNI3

troponin I3, cardiac type

OMIM:613286

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

Miscarriage

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

albumin

NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482

BIN1

bridging integrator 1

ORPHA:169189

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

CLN8

CLN8 transmembrane ER and ERGIC protein

ORPHA:1947

NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711

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

dynamin 2

NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488

endoglin

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

FCGR3B

Fc gamma receptor IIIb

ORPHA:464370

NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963

fibrinogen alpha chain

ORPHA:98880

NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742

fibrinogen beta chain

ORPHA:98880

NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807

fibrinogen gamma chain

ORPHA:98880

NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967

GP6

glycoprotein VI platelet

PMID:28041267 PMID:26308704 PMID:22901851

Sticky platelet syndrome associated with Spontaneous Abortion;DNA:missense mutations:CDS:p.H322N, p.A249T, p.E237K (rs1671152, rs2304167, rs1654416)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNP:exon:g.55526345G>T (rs1671152)
Sticky platelet syndrome associated with Spontaneous Abortion;DNA:SNPs:introns, exon:g.55527189T>G, g.55535881G>A, g.55536595A>G (rs1671153, rs1654419, rs1613662)

RGD

RGD:401794417, RGD:11537847, RGD:401794455

NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264

HBB

hemoglobin subunit beta

ORPHA:2133

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

homeobox A13

NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091

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

Janus kinase 2

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

MEG3

maternally expressed 3

ORPHA:96334

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

matrix Gla protein

NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857

MPL

MPL proto-oncogene, thrombopoietin receptor

ORPHA:71493

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

MTMR14

myotubularin related protein 14

ORPHA:169189

NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393

myogenic factor 6

NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474

NLRP7

NLR family pyrin domain containing 7

OMIM:231090

NCBI chr19:54,923,515...54,966,243
Ensembl chr19:54,923,509...54,966,312

NSD2

nuclear receptor binding SET domain protein 2

OMIM:619695

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

perilipin 1

NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427

plexin D1

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

RAD51 paralog C

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

REC114

REC114 meiotic recombination protein

OMIM:619176

NCBI chr15:73,443,164...73,560,013
Ensembl chr15:73,443,164...73,560,013

RHAG

Rh associated glycoprotein

ORPHA:71275

NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839

RHCE

Rh blood group CcEe antigens

ORPHA:71275

NCBI chr 1:25,362,249...25,430,203
Ensembl chr 1:25,362,249...25,430,192

RHD

Rh blood group D antigen

ORPHA:71275

NCBI chr 1:25,272,486...25,330,445
Ensembl chr 1:25,272,393...25,330,445

RTL1

retrotransposon Gag like 1

ORPHA:96334

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

ryanodine receptor 1

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

SERPINC1

serpin family C member 1

ORPHA:82

NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327

SERPINE1

serpin family E member 1

ORPHA:465

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

thrombopoietin

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

WRN

WRN RecQ like helicase

ORPHA:902

NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138

Neonatal death

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AARS2

alanyl-tRNA synthetase 2, mitochondrial

OMIM:614096

NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347

ABCA12

ATP binding cassette subfamily A member 12

OMIM:242500

NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626

ABCA3

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

ACTA1

actin alpha 1, skeletal muscle

OMIM:620265

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

adenylate cyclase 6

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

ALG8

ALG8 alpha-1,3-glucosyltransferase

OMIM:608104

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

AP1S1

adaptor related protein complex 1 subunit sigma 1

OMIM:609313

NCBI chr 7:101,154,476...101,161,276
Ensembl chr 7:101,154,456...101,161,596

ATAD3A

ATPase family AAA domain containing 3A

OMIM:618810

NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

OMIM:619602

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

ATP5F1A

ATP synthase F1 subunit alpha

OMIM:615228

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

BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

OMIM:124000

NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443

CDK5

cyclin dependent kinase 5

OMIM:616342

NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897

CEP55

centrosomal protein 55

OMIM:236500

NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092

CNOT1

CCR4-NOT transcription complex subunit 1

OMIM:618500

NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885

CNTNAP1

contactin associated protein 1

OMIM:618186

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

CRLS1

cardiolipin synthase 1

OMIM:620167

NCBI chr20:6,005,938...6,040,053
Ensembl chr20:6,006,093...6,040,053

cathepsin D

NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573

DONSON

DNA replication fork stabilization factor DONSON

OMIM:251230

NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706

desmoplakin

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

EDNRB

endothelin receptor type B

OMIM:600501

NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529

EFEMP2

EGF containing fibulin extracellular matrix protein 2

OMIM:614437

NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592

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

ClinVar Annotator: match by term: Neonatal death

ClinVar
HPO

PMID:25558065

OMIM:259775

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

FANCB

FA complementation group B

OMIM:314390

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

FBN2

fibrillin 2

ClinVar Annotator: match by term: Neonatal death

PMID:25558065

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

fibrinogen alpha chain

NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742

fibrinogen beta chain

NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807

FGFR3

fibroblast growth factor receptor 3

OMIM:187600 OMIM:187601 OMIM:616482

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

fibrinogen gamma chain

NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967

FLNB

filamin B

OMIM:108720 OMIM:112310

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

forkhead box F1

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

GAD1

glutamate decarboxylase 1

OMIM:619124

NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151

GATC

glutamyl-tRNA amidotransferase subunit C

OMIM:618839

NCBI chr12:120,446,444...120,463,749
Ensembl chr12:120,446,444...120,463,749

GBA1

glucosylceramidase beta 1

OMIM:608013 ORPHA:85212

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

GET3

guided entry of tail-anchored proteins factor 3, ATPase

OMIM:620203

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

GLE1

GLE1 RNA export mediator

OMIM:253310 OMIM:611890

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

GLI3

GLI family zinc finger 3

OMIM:146510

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

GLUL

glutamate-ammonia ligase

OMIM:610015

NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206

gephyrin

NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803

HADHB

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

OMIM:620300

NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465

HSPG2

heparan sulfate proteoglycan 2

OMIM:224410

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

HTRA2

HtrA serine peptidase 2

OMIM:617248

NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350

IFT56

intraflagellar transport 56

OMIM:619534

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

IL6ST

interleukin 6 cytokine family signal transducer

OMIM:619751

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

INTU

inturned planar cell polarity protein

OMIM:617925

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

ITGA6

integrin subunit alpha 6

OMIM:619817

NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,427,354...172,506,459

JAM3

junctional adhesion molecule 3

OMIM:613730

NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001

LAMC3

laminin subunit gamma 3

ClinVar Annotator: match by term: Neonatal death

PMID:25741868 PMID:28492532 PMID:33639934

NCBI chr 9:131,009,174...131,094,473
Ensembl chr 9:131,009,174...131,094,473

lamin B receptor

NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925

leiomodin 1

NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548

leiomodin 2

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

leiomodin 3

NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032

MBTPS2

membrane bound transcription factor peptidase, site 2

OMIM:308205 ORPHA:85284

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

MDFIC

MyoD family inhibitor domain containing

OMIM:620014

NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917

MOCS2

molybdenum cofactor synthesis 2

OMIM:252160

NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063

MRPS16

mitochondrial ribosomal protein S16

OMIM:610498

NCBI chr10:73,248,849...73,252,644
Ensembl chr10:73,248,843...73,252,693

MT-TV

mitochondrially encoded tRNA-Val (GUN)

ClinVar Annotator: match by term: Neonatal death

PMID:11799391 PMID:17886296 PMID:18400783 PMID:25652200 PMID:31965079

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

NDUFAF4

NADH:ubiquinone oxidoreductase complex assembly factor 4

OMIM:618237

NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891

NDUFB10

NADH:ubiquinone oxidoreductase subunit B10

OMIM:619003

NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975

NDUFB11

NADH:ubiquinone oxidoreductase subunit B11

OMIM:301021

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

NDUFS6

NADH:ubiquinone oxidoreductase subunit S6

OMIM:618232

NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048

nebulin

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

NFU1

NFU1 iron-sulfur cluster scaffold

OMIM:605711

NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628

nephrocystin 3

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

nucleoporin 88

NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164

PAICS

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

OMIM:619859

NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578

PET100 cytochrome c oxidase chaperone

NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956

PEX10

peroxisomal biogenesis factor 10

OMIM:614870

NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797

PEX14

peroxisomal biogenesis factor 14

OMIM:614887

NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758

PHGDH

phosphoglycerate dehydrogenase

OMIM:256520

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

PIP5K1C

phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

OMIM:611369

NCBI chr19:3,630,183...3,700,468
Ensembl chr19:3,630,183...3,700,468

PKHD1

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

OMIM:263200

NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613

plectin

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

plastin 3

NCBI chr X:115,561,174...115,650,861
Ensembl chr X:115,561,174...115,650,861

POMGNT2

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

ClinVar Annotator: match by term: Neonatal death

PMID:22958903 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31130284

NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085

PPFIBP1

PPFIA binding protein 1

OMIM:620024

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

QRSL1

glutaminyl-tRNA amidotransferase subunit QRSL1

OMIM:618835

NCBI chr 6:106,629,578...106,668,417
Ensembl chr 6:106,629,578...106,668,417

RAD51 paralog C

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

RARB

retinoic acid receptor beta

OMIM:615524

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

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

required for meiotic nuclear division 1 homolog

NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158

SCN4A

sodium voltage-gated channel alpha subunit 4

OMIM:620351

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

SDHD

succinate dehydrogenase complex subunit D

OMIM:619167

NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016

surfactant protein B

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

SLC25A24

solute carrier family 25 member 24

OMIM:612289

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

SLC25A4

solute carrier family 25 member 4

OMIM:617184

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

SPDL1

spindle apparatus coiled-coil protein 1

ClinVar Annotator: match by term: Neonatal death

PMID:25558065

NCBI chr 5:169,583,773...169,604,778
Ensembl chr 5:169,583,636...169,604,778

STRA6

signaling receptor and transporter of retinol STRA6

OMIM:601186

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

SUCLG1

succinate-CoA ligase GDP/ADP-forming subunit alpha

OMIM:245400

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

TARS2

threonyl-tRNA synthetase 2, mitochondrial

OMIM:615918

NCBI chr 1:150,487,419...150,507,602
Ensembl chr 1:150,487,414...150,507,602

TBXT

T-box transcription factor T

OMIM:615709

NCBI chr 6:166,157,656...166,168,655
Ensembl chr 6:166,157,656...166,168,700

THSD1

thrombospondin type 1 domain containing 1

OMIM:620244

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

TMEM70

transmembrane protein 70

OMIM:614052

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

WDR81

WD repeat domain 81

ClinVar Annotator: match by term: Neonatal death

PMID:25558065 PMID:25741868 PMID:25741916 PMID:28556411

NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599

WT1 transcription factor

OMIM:194080 OMIM:608978

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

Zic family member 3

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

ZMPSTE24

zinc metallopeptidase STE24

OMIM:275210

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

Prenatal death

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

nucleoporin 88

NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164

Stillbirth

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALPL

alkaline phosphatase, biomineralization associated

OMIM:241500

NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410

CALCRL

calcitonin receptor like receptor

OMIM:618773

NCBI chr 2:187,341,964...187,448,252
Ensembl chr 2:187,341,964...187,448,460

CDK8

cyclin dependent kinase 8

ClinVar Annotator: match by term: Stillbirth

PMID:25741868

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

centromere protein F

NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574

CEP120

centrosomal protein 120

OMIM:616300

NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592

CEP55

centrosomal protein 55

OMIM:236500

NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092

COL11A1

collagen type XI alpha 1 chain

OMIM:228520

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

COL2A1

collagen type II alpha 1 chain

OMIM:151210 OMIM:200610

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

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

OMIM:268300

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

FLNA

filamin A

OMIM:304120 OMIM:309350

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

filamin B

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

GBA1

glucosylceramidase beta 1

ORPHA:85212

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

GDF5

growth differentiation factor 5

OMIM:200700

NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746

GRIP1

glutamate receptor interacting protein 1

OMIM:617667

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

HYLS1

HYLS1 centriolar and ciliogenesis associated

OMIM:236680

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

IL6ST

interleukin 6 cytokine family signal transducer

OMIM:619751

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

lamin B receptor

NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925

LGI4

leucine rich repeat LGI family member 4

OMIM:617468

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

MUSK

muscle associated receptor tyrosine kinase

OMIM:208150

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

NEK8

NIMA related kinase 8

OMIM:615415

NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455

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

OSTM1

osteoclastogenesis associated transmembrane protein 1

OMIM:259720

NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854

PHGDH

phosphoglycerate dehydrogenase

OMIM:256520

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

PITX1

paired like homeodomain 1

OMIM:119800

NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813

POR

cytochrome p450 oxidoreductase

ORPHA:95699

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

PTH1R

parathyroid hormone 1 receptor

OMIM:215045

NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799

required for meiotic nuclear division 1 homolog

NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158

RNU4ATAC

RNA, U4atac small nuclear

OMIM:210710

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

SLC26A2

solute carrier family 26 member 2

OMIM:256050 OMIM:600972

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

SLC35D1

solute carrier family 35 member D1

OMIM:269250

NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148

TRIP11

thyroid hormone receptor interactor 11

OMIM:200600

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

WT1 transcription factor

OMIM:608978

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

ZMPSTE24

zinc metallopeptidase STE24