Young adult onset - Ontology Report

MIM:231550

NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864

AAGAB

alpha and gamma adaptin binding protein

MIM:148600

NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195

AARS1

alanyl-tRNA synthetase 1

MIM:613287

NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707

AARS2

alanyl-tRNA synthetase 2, mitochondrial

MIM:615889

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

ABCA4

ATP binding cassette subfamily A member 4

MIM:604116

NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148

ABHD12

abhydrolase domain containing 12, lysophospholipase

MIM:612674

NCBI chr20:25,294,743...25,390,835
Ensembl chr20:25,294,742...25,390,835

acrosin

NCBI chr22:50,738,204...50,745,339
Ensembl chr22:50,738,196...50,745,339

ACTA1

actin alpha 1, skeletal muscle

MIM:616852

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

ACTC1

actin alpha cardiac muscle 1

MIM:612098 MIM:613424

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

actin gamma 1

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

actin like 7A

NCBI chr 9:108,862,266...108,863,756
Ensembl chr 9:108,862,266...108,863,756

actinin alpha 2

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

ADGRG2

adhesion G protein-coupled receptor G2

MIM:300985

NCBI chr X:18,989,307...19,122,956
Ensembl chr X:18,989,307...19,122,637

AFG3L2

AFG3 like matrix AAA peptidase subunit 2

MIM:610246

NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227

AIP

aryl hydrocarbon receptor interacting protein

MIM:102200

NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154

adenylate kinase 7

NCBI chr14:96,392,128...96,489,427
Ensembl chr14:96,392,128...96,489,427

AKAP3

A-kinase anchoring protein 3

MIM:620353

NCBI chr12:4,615,518...4,649,051
Ensembl chr12:4,615,508...4,649,051

ALDH18A1

aldehyde dehydrogenase 18 family member A1

MIM:601162

NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

ALDH5A1

aldehyde dehydrogenase 5 family member A1

MIM:271980

NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207

AMACR

alpha-methylacyl-CoA racemase

MIM:614307

NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104

ANLN

anillin, actin binding protein

MIM:616032

NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791

anoctamin 10

NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594

anoctamin 3

NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289

ANO5

anoctamin 5

MIM:611307 MIM:613319

NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567

annexin A5

NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995

AOPEP

aminopeptidase O (putative)

MIM:619565

NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793

APC

APC regulator of WNT signaling pathway

MIM:135290

NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239

APOA1

apolipoprotein A1

MIM:618463 MIM:620657

NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622

APPL1

adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1

MIM:616511

NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105

ARHGEF18

Rho/Rac guanine nucleotide exchange factor 18

MIM:617433

NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485

ARL2BP

ARF like GTPase 2 binding protein

MIM:615434

NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635

ARMC12

armadillo repeat containing 12

MIM:620744

NCBI chr 6:35,731,524...35,749,079
Ensembl chr 6:35,737,032...35,749,079

ASTL

astacin like metalloendopeptidase

MIM:619643

NCBI chr 2:96,122,818...96,138,564
Ensembl chr 2:96,122,818...96,138,502

atlastin GTPase 1

NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017

atlastin GTPase 3

NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921

atrophin 1

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

ATP11A

ATPase phospholipid transporting 11A

MIM:619810

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

ATP13A2

ATPase cation transporting 13A2

MIM:606693

NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

MIM:602481

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

MIM:128235

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

ATP6V0A1

ATPase H+ transporting V0 subunit a1

MIM:619971

NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582

ATP7B

ATPase copper transporting beta

MIM:277900

NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125

ataxin 10

NCBI chr22:45,671,834...45,845,307
Ensembl chr22:45,671,798...45,845,307

ataxin 2

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

aurora kinase C

NCBI chr19:57,231,023...57,235,548
Ensembl chr19:57,231,009...57,235,548

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

BAP1

BRCA1 associated deubiquitinase 1

MIM:614327

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

BBS2

Bardet-Biedl syndrome 2

MIM:616562

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

BLK

BLK proto-oncogene, Src family tyrosine kinase

MIM:613375

NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599

BMPR2

bone morphogenetic protein receptor type 2

MIM:178600

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

BPY2

basic charge Y-linked 2

NCBI chr Y:22,984,263...23,005,465
Ensembl chr Y:22,973,819...23,005,465

BRCA2

BRCA2 DNA repair associated

MIM:612555

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

BRDT

bromodomain testis associated

MIM:617644

NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426

C14orf39

chromosome 14 open reading frame 39

MIM:619202

NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543

C19orf12

chromosome 19 open reading frame 12

MIM:614298

NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789

C2CD6

C2 calcium dependent domain containing 6

MIM:619805

NCBI chr 2:201,487,421...201,619,178
Ensembl chr 2:201,487,421...201,619,178

CACNA1A

calcium voltage-gated channel subunit alpha1 A

MIM:141500 MIM:183086

NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489

CACNB4

calcium voltage-gated channel auxiliary subunit beta 4

MIM:613855

NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167

calpain 1

NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006

calpain 3

NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949

CAPNS1

calpain small subunit 1

MIM:620777

NCBI chr19:36,140,066...36,150,353
Ensembl chr19:36,139,953...36,150,353

CASK

calcium/calmodulin dependent serine protein kinase

MIM:300908

NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554

calsequestrin 2

NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921

CASR

calcium sensing receptor

MIM:601198

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

CATIP

ciliogenesis associated TTC17 interacting protein

MIM:619379

NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,369,962

CATSPER1

cation channel sperm associated 1

MIM:612997

NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479

CATSPER2

cation channel sperm associated 2

MIM:612997

NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118

CAV1

caveolin 1

MIM:606721 MIM:615343

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

CBFB

core-binding factor subunit beta

MIM:620099

NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058

CC2D2A

coiled-coil and C2 domain containing 2A

MIM:619845

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

CCDC146

coiled-coil domain containing 146

MIM:620850

NCBI chr 7:77,122,615...77,295,204
Ensembl chr 7:77,122,434...77,329,533

CCDC34

coiled-coil domain containing 34

MIM:620084

NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234

CCDC39

coiled-coil domain 39 molecular ruler complex subunit

MIM:613807

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

CCDC62

coiled-coil domain containing 62

MIM:619803

NCBI chr12:122,774,572...122,827,528
Ensembl chr12:122,774,526...122,827,528

calicin

NCBI chr 9:36,169,388...36,171,334
Ensembl chr 9:36,169,388...36,171,334

cyclin D1

NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474

CD164 molecule

NCBI chr 6:109,366,514...109,382,467
Ensembl chr 6:109,366,514...109,382,467

CDC20

cell division cycle 20

MIM:620276

NCBI chr 1:43,358,981...43,363,203
Ensembl chr 1:43,358,981...43,363,203

cadherin 2

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

CDY1

chromodomain Y-linked 1

NCBI chr Y:25,622,115...25,625,511
Ensembl chr Y:25,622,117...25,624,902

CDY2A

chromodomain Y-linked 2A

NCBI chr Y:18,025,787...18,027,746
Ensembl chr Y:18,025,787...18,027,746

CEL

carboxyl ester lipase

MIM:609812

NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861

CEP78

centrosomal protein 78

MIM:617236

NCBI chr 9:78,236,075...78,279,690
Ensembl chr 9:78,236,062...78,279,690

CFAP251

cilia and flagella associated protein 251

MIM:618152

NCBI chr12:121,918,592...122,003,919
Ensembl chr12:121,918,592...122,003,927

CFAP43

cilia and flagella associated protein 43

MIM:617592

NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364

CFAP44

cilia and flagella associated protein 44

MIM:617593

NCBI chr 3:113,286,930...113,441,514
Ensembl chr 3:113,286,930...113,441,610

CFAP61

cilia and flagella associated protein 61

MIM:620409

NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703

complement factor I

NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150

CHD8

chromodomain helicase DNA binding protein 8

MIM:615032

NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126

checkpoint kinase 1

NCBI chr11:125,625,136...125,681,124
Ensembl chr11:125,625,163...125,676,255

CIB1

calcium and integrin binding 1

MIM:618267

NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047

CLCN1

chloride voltage-gated channel 1

MIM:255700

NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083

claudin 16

NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138

CLN6

CLN6 transmembrane ER protein

MIM:204300

NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211

CMPK2

cytidine/uridine monophosphate kinase 2

MIM:621018

NCBI chr 2:6,840,553...6,866,635
Ensembl chr 2:6,840,570...6,866,635

CNTNAP2

contactin associated protein 2

MIM:610042

NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998

cochlin

NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065

COL2A1

collagen type II alpha 1 chain

MIM:604864

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

COL4A1

collagen type IV alpha 1 chain

MIM:618564

NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202

COL6A3

collagen type VI alpha 3 chain

MIM:616411

NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328

coenzyme Q4

NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072

coenzyme Q8B

NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784

CPOX

coproporphyrinogen oxidase

MIM:121300

NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648

CPT2

carnitine palmitoyltransferase 2

MIM:255110

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

crystallin beta A2

NCBI chr 2:218,990,190...218,993,422
Ensembl chr 2:218,990,189...218,993,422

CT55

cancer/testis antigen 55

MIM:301106

NCBI chr X:135,156,536...135,171,827
Ensembl chr X:135,156,540...135,171,398

catenin alpha 1

NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034

CTNS

cystinosin, lysosomal cystine transporter

MIM:219750

NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103

cathepsin F

NCBI chr11:66,563,464...66,568,606
Ensembl chr11:66,563,464...66,568,879

cylicin 1

NCBI chr X:83,861,146...83,886,698
Ensembl chr X:83,861,126...83,886,699

CYLD

CYLD lysine 63 deubiquitinase

MIM:619132

NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935

CYP7B1

cytochrome P450 family 7 subfamily B member 1

MIM:270800

NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737

DAB1

DAB adaptor protein 1

MIM:615945

NCBI chr 1:56,994,778...58,546,726
Ensembl chr 1:56,994,778...58,546,734

DAZ1

deleted in azoospermia 1

NCBI chr Y:23,129,355...23,199,094
Ensembl chr Y:23,129,355...23,199,010

DAZ2

deleted in azoospermia 2

NCBI chr Y:23,219,457...23,291,356
Ensembl chr Y:23,219,447...23,291,356

DAZ3

deleted in azoospermia 3

NCBI chr Y:24,763,069...24,813,393
Ensembl chr Y:24,763,069...24,813,492

DDX3Y

DEAD-box helicase 3 Y-linked

NCBI chr Y:12,903,999...12,920,478
Ensembl chr Y:12,904,108...12,920,478

desmin

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

DGUOK

deoxyguanosine kinase

MIM:617070

NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961

DHTKD1

dehydrogenase E1 and transketolase domain containing 1

MIM:615025

NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221

DIABLO

diablo IAP-binding mitochondrial protein

MIM:614152

NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062

DIAPH2

diaphanous related formin 2

MIM:300511

NCBI chr X:96,684,842...97,604,997
Ensembl chr X:96,684,712...97,604,997

DIAPH3

diaphanous related formin 3

MIM:609129

NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928

DNA2

DNA replication helicase/nuclease 2

MIM:615156

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

DNAH1

dynein axonemal heavy chain 1

MIM:617576

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

DNAH17

dynein axonemal heavy chain 17

MIM:618643

NCBI chr17:78,423,697...78,577,396
Ensembl chr17:78,423,697...78,577,396

DNAJB2

DnaJ heat shock protein family (Hsp40) member B2

MIM:614881

NCBI chr 2:219,279,366...219,286,895
Ensembl chr 2:219,279,342...219,286,898

DNAJB4

DnaJ heat shock protein family (Hsp40) member B4

MIM: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

MIM:603511

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

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

MIM:619382

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

DNAJC5

DnaJ heat shock protein family (Hsp40) member C5

MIM:162350

NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031

DNALI1

dynein axonemal light intermediate chain 1

MIM:620354

NCBI chr 1:37,556,940...37,566,857
Ensembl chr 1:37,556,919...37,566,857

DNHD1

dynein heavy chain domain 1

MIM:619712

NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758

DNMT1

DNA methyltransferase 1

MIM:604121 MIM:614116

NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286

dpy-19 like 2

NCBI chr12:63,558,913...63,668,805
Ensembl chr12:63,558,913...63,668,939

DRAM2

DNA damage regulated autophagy modulator 2

MIM:616502

NCBI chr 1:111,117,163...111,140,093
Ensembl chr 1:111,117,163...111,140,203

DRC1

dynein regulatory complex subunit 1

MIM:620222

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

desmocollin 2

NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600

desmoglein 2

NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351

dystrobrevin alpha

NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844

DYRK1B

dual specificity tyrosine phosphorylation regulated kinase 1B

MIM:615812

NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201

DYSF

dysferlin

MIM:253601 MIM:606768

NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763

EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4

MIM:234810

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

EIF2B3

eukaryotic translation initiation factor 2B subunit gamma

MIM:620313

NCBI chr 1:44,850,522...44,986,595
Ensembl chr 1:44,850,522...44,986,722

ELMOD3

ELMO domain containing 3

MIM:619500

NCBI chr 2:85,354,769...85,391,748
Ensembl chr 2:85,354,394...85,391,752

ELOVL4

ELOVL fatty acid elongase 4

MIM:133190

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

ELOVL5

ELOVL fatty acid elongase 5

MIM:615957

NCBI chr 6:53,267,404...53,348,950
Ensembl chr 6:53,267,398...53,349,179

EPAS1

endothelial PAS domain protein 1

MIM:611783

NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697

EPH receptor A10

NCBI chr 1:37,713,880...37,765,120
Ensembl chr 1:37,713,880...37,765,133

ERCC6

ERCC excision repair 6, chromatin remodeling factor

MIM:616946

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

ERLIN2

ER lipid raft associated 2

MIM:620512

NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422

EXTL3

exostosin like glycosyltransferase 3

MIM:617425

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

coagulation factor II, thrombin

MIM:614390

NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506

coagulation factor V

MIM:614389

NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588

FANCM

FA complementation group M

MIM:618086

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

FARS2

phenylalanyl-tRNA synthetase 2, mitochondrial

MIM:617046

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

fibulin 5

NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987

fibrillin 1

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

F-box protein 43

NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817

FDPS

farnesyl diphosphate synthase

MIM:616631

NCBI chr 1:155,308,866...155,320,665
Ensembl chr 1:155,308,748...155,320,666

FHL1

four and a half LIM domains 1

MIM:300695 MIM:300696

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

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

MIM:620103

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

fukutin

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

FLNC

filamin C

MIM:614065 MIM:617047

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

fibronectin 1

NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073

forkhead box C1

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

forkhead box L1

NCBI chr16:86,578,549...86,583,478
Ensembl chr16:86,576,368...86,583,478

FSHB

follicle stimulating hormone subunit beta

MIM:229070

NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261

FSIP2

fibrous sheath interacting protein 2

MIM:618153

NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290

G6PD

glucose-6-phosphate dehydrogenase

MIM:300908

NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572

alpha glucosidase

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

GABRA3

gamma-aminobutyric acid type A receptor subunit alpha3

MIM:301091

NCBI chr X:152,166,234...152,451,315
Ensembl chr X:152,166,234...152,451,315

galactosylceramidase

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

GANAB

glucosidase II alpha subunit

MIM:600666

NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726

GARS1

glycyl-tRNA synthetase 1

MIM:600794 MIM:601472

NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033

GBF1

golgi brefeldin A resistant guanine nucleotide exchange factor 1

MIM:606483

NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899

glucokinase

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

GCNA

germ cell nuclear acidic peptidase

MIM:301077

NCBI chr X:71,578,437...71,613,583
Ensembl chr X:71,578,437...71,613,583

GDF9

growth differentiation factor 9

MIM:618014

NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884

GGCX

gamma-glutamyl carboxylase

MIM:610842

NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532

gametogenetin

NCBI chr19:38,384,267...38,388,384
Ensembl chr19:38,384,267...38,388,082

GIPC1

GIPC PDZ domain containing family member 1

MIM:618940

NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149

GJC2

gap junction protein gamma 2

MIM:613480

NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826

GNB4

G protein subunit beta 4

MIM:615185

NCBI chr 3:179,396,088...179,527,798
Ensembl chr 3:179,396,088...179,451,476

GNPTAB

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

MIM:252600

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

GRIK2

glutamate ionotropic receptor kainate type subunit 2

RGD

PMID:10522893

RGD:1358638

NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622

glycogenin 1

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

HAMP

hepcidin antimicrobial peptide

MIM:613313

NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143

HAVCR2

hepatitis A virus cellular receptor 2

MIM:618398

NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869

HCN4

hyperpolarization activated cyclic nucleotide gated potassium channel 4

MIM:163800

NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958

HFM1

helicase for meiosis 1

MIM:615724

NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856

HINT1

histidine triad nucleotide binding protein 1

MIM:137200

NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468

HJV

hemojuvelin BMP co-receptor

MIM:602390

NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746

hexokinase 1

NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884

HKDC1

hexokinase domain containing 1

MIM:619614

NCBI chr10:69,220,332...69,267,552
Ensembl chr10:69,220,332...69,267,552

HNF1 homeobox B

NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059

HNRNPA1

heterogeneous nuclear ribonucleoprotein A1

MIM:615424

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

HNRNPA2B1

heterogeneous nuclear ribonucleoprotein A2/B1

MIM:620460

NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529

HPRT1

hypoxanthine phosphoribosyltransferase 1

MIM:300322

NCBI chr X:134,460,165...134,500,668
Ensembl chr X:134,460,165...134,520,513

HSFY1

heat shock transcription factor Y-linked 1

NCBI chr Y:18,529,643...18,588,963
Ensembl chr Y:18,546,691...18,588,963

HSPB3

heat shock protein family B (small) member 3

MIM:613376

NCBI chr 5:54,455,699...54,456,377
Ensembl chr 5:54,455,699...54,456,377

HSPB8

heat shock protein family B (small) member 8

MIM:608673

NCBI chr12:119,178,931...119,194,746
Ensembl chr12:119,171,555...119,224,855

ICOS

inducible T cell costimulator

MIM:607594

NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577

IDS

iduronate 2-sulfatase

MIM:309900

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

IFIH1

interferon induced with helicase C domain 1

MIM:182250

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

IFT140

intraflagellar transport 140

MIM:617781

NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072

IFT74

intraflagellar transport 74

MIM:619585

NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134

IKZF1

IKAROS family zinc finger 1

MIM:616873

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

IL36RN

interleukin 36 receptor antagonist

MIM:614204

NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382

IMPG2

interphotoreceptor matrix proteoglycan 2

MIM:616152

NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575

inverted formin 2

NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535

insulin receptor

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

IQCN

IQ motif containing N

MIM:620170

NCBI chr19:18,257,098...18,274,452
Ensembl chr19:18,257,098...18,274,500

ITM2B

integral membrane protein 2B

MIM:616079

NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357

ITPR1

inositol 1,4,5-trisphosphate receptor type 1

MIM:606658

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

ITPR3

inositol 1,4,5-trisphosphate receptor type 3

MIM:620111

NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574

JAG2

jagged canonical Notch ligand 2

MIM:619566

NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824

junctophilin 2

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

KASH5

KASH domain containing 5

MIM:620547 MIM:620548

NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990

KCNC3

potassium voltage-gated channel subfamily C member 3

MIM:605259

NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515

KCND3

potassium voltage-gated channel subfamily D member 3

MIM:607346 MIM:616399

NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668

KCNJ18

potassium inwardly rectifying channel subfamily J member 18

MIM:613239

NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612

KCNK3

potassium two pore domain channel subfamily K member 3

MIM:615344

NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420

KCNQ1

potassium voltage-gated channel subfamily Q member 1

MIM:607554

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

KCNU1

potassium calcium-activated channel subfamily U member 1

MIM:620196

NCBI chr 8:36,784,374...36,936,125
Ensembl chr 8:36,784,324...36,936,125

KDM5D

lysine demethylase 5D

NCBI chr Y:19,703,865...19,744,726
Ensembl chr Y:19,703,865...19,744,939

KIF5A

kinesin family member 5A

MIM:617921

NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633

KLHL24

kelch like family member 24

MIM:620236

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

KLHL3

kelch like family member 3

MIM:614495

NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089

KLHL7

kelch like family member 7

MIM:612943

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

kininogen 1

NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410

KPNA7

karyopherin subunit alpha 7

MIM:620319

NCBI chr 7:99,145,804...99,219,419
Ensembl chr 7:99,173,572...99,250,075

LAMA4

laminin subunit alpha 4

MIM:615235

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

LGI1

leucine rich glioma inactivated 1

MIM:600512

NCBI chr10:93,757,936...93,798,159
Ensembl chr10:93,757,840...93,806,272

LIPE

lipase E, hormone sensitive type

MIM:615980

NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388

LMF1

lipase maturation factor 1

MIM:246650

NCBI chr16:853,634...981,613
Ensembl chr16:853,634...981,318

LMNA

lamin A/C

MIM:115200 MIM:151660 MIM:181350

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

LMX1B

LIM homeobox transcription factor 1 beta

MIM:256020

NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032

lysyl oxidase

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

lipoprotein lipase

NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259

LRP12

LDL receptor related protein 12

MIM:164310

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

LRRC23

leucine rich repeat containing 23

MIM:620848

NCBI chr12:6,904,822...6,914,229
Ensembl chr12:6,873,569...6,914,241

LYST

lysosomal trafficking regulator

MIM:214500

NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724

lysozyme

NCBI chr12:69,348,381...69,354,234
Ensembl chr12:69,348,381...69,354,234

MAFA

MAF bZIP transcription factor A

MIM:147630

NCBI chr 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732

MAFB

MAF bZIP transcription factor B

MIM:166300

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

MAGT1

magnesium transporter 1

MIM:300853

NCBI chr X:77,825,747...77,895,568
Ensembl chr X:77,825,747...77,899,271

MAK

male germ cell associated kinase

MIM:614181

NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553

MANF

mesencephalic astrocyte derived neurotrophic factor

MIM:620651

NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397

MAP1B

microtubule associated protein 1B

MIM:619808

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

MAPKAPK3

MAPK activated protein kinase 3

MIM:617111

NCBI chr 3:50,611,520...50,649,291
Ensembl chr 3:50,611,520...50,649,291

MAPKBP1

mitogen-activated protein kinase binding protein 1

MIM:617271

NCBI chr15:41,774,484...41,827,855
Ensembl chr15:41,774,434...41,827,855

MAPT

microtubule associated protein tau

MIM:260540

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

MARCHF6

membrane associated ring-CH-type finger 6

MIM:613608

NCBI chr 5:10,353,695...10,440,388
Ensembl chr 5:10,353,695...10,440,388

MARS2

methionyl-tRNA synthetase 2, mitochondrial

MIM:611390

NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395

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

MBD4

methyl-CpG binding domain 4, DNA glycosylase

MIM:619975

NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179

MCAT

malonyl-CoA-acyl carrier protein transacylase

MIM:620583

NCBI chr22:43,132,206...43,143,398
Ensembl chr22:43,132,209...43,143,398

MCM6

minichromosome maintenance complex component 6

MIM:223100

NCBI chr 2:135,839,626...135,876,443
Ensembl chr 2:135,839,626...135,876,443

MECR

mitochondrial trans-2-enoyl-CoA reductase

MIM:620629

NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942

MEFV

MEFV innate immunity regulator, pyrin

MIM:249100

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

MEI1

meiotic double-stranded break formation protein 1

MIM:618431

NCBI chr22:41,699,503...41,799,454
Ensembl chr22:41,699,503...41,799,456

MEIOB

meiosis specific with OB-fold

MIM:617706 MIM:620686

NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294

mitofusin 2

NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211

MFRP

membrane frizzled-related protein

MIM:611040

NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705

MGME1

mitochondrial genome maintenance exonuclease 1

MIM:615084

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

MICAL1

microtubule associated monooxygenase, calponin and LIM domain containing 1

MIM:600512

NCBI chr 6:109,444,062...109,465,968
Ensembl chr 6:109,444,062...109,465,968

MMACHC

metabolism of cobalamin associated C

MIM:277400

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

MOG

myelin oligodendrocyte glycoprotein

MIM:614250

NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372

MORC2

MORC family CW-type zinc finger 2

MIM:616688

NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774

MOS

MOS proto-oncogene, serine/threonine kinase

MIM:620383

NCBI chr 8:56,112,942...56,113,982
Ensembl chr 8:56,112,942...56,113,982

MOV10L1

Mov10 like RNA helicase 1

MIM:619878

NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690

MPV17

mitochondrial inner membrane protein MPV17

MIM:256810

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

mutS homolog 3

NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815

MSH4

mutS homolog 4

MIM:108420 MIM:619938

NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242

mutS homolog 5

NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676

MYBPC3

myosin binding protein C3

MIM:615396

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

myosin light chain 4

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

myopalladin

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

NAA60

N-alpha-acetyltransferase 60, NatF catalytic subunit

MIM:620786

NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953

NAF1

nuclear assembly factor 1 ribonucleoprotein

MIM:620365

NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890

NAGLU

N-acetyl-alpha-glucosaminidase

MIM:616491

NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449

NEFL

neurofilament light chain

MIM:617882

NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721

NEK8

NIMA related kinase 8

MIM:620903

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

NEXN

nexilin F-actin binding protein

MIM:613122

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

neurofibromin 1

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

NF2

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

MIM:101000

NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598

NHLRC1

NHL repeat containing E3 ubiquitin protein ligase 1

MIM:620681

NCBI chr 6:18,120,440...18,122,677
Ensembl chr 6:18,120,440...18,122,677

NLRP2

NLR family pyrin domain containing 2

MIM:620332

NCBI chr19:54,965,284...55,001,138
Ensembl chr19:54,953,130...55,001,142

NLRP3

NLR family pyrin domain containing 3

MIM:148200 MIM:617772

NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108

NLRP5

NLR family pyrin domain containing 5

MIM:620333

NCBI chr19:55,999,726...56,061,810
Ensembl chr19:55,999,726...56,061,810

NLRP7

NLR family pyrin domain containing 7

MIM:231090

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

nucleolar protein 3

NCBI chr16:67,170,538...67,175,737
Ensembl chr16:67,170,154...67,175,737

NOTCH2NLC

notch 2 N-terminal like C

MIM:619473

NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833

notch receptor 3

NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995

NPC1

NPC intracellular cholesterol transporter 1

MIM:257220

NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506

nephrocystin 1

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

NPPA

natriuretic peptide A

MIM:612201

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

neuronal pentraxin 1

NCBI chr17:80,466,834...80,476,607
Ensembl chr17:80,466,834...80,477,843

NR0B1

nuclear receptor subfamily 0 group B member 1

MIM:300200

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

NR2E3

nuclear receptor subfamily 2 group E member 3

MIM:611131

NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259

NR3C1

nuclear receptor subfamily 3 group C member 1

MIM:615962

NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512

NRL

neural retina leucine zipper

MIM:613750

NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010

NT5C2

5'-nucleotidase, cytosolic II

MIM:613162

NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605

OBSCN

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

MIM:620235

NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876

optineurin

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

OXGR1

oxoglutarate receptor 1

MIM:620374

NCBI chr13:96,985,713...96,994,730
Ensembl chr13:96,985,713...96,994,730

PANK2

pantothenate kinase 2

MIM:234200

NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887

PAT1 homolog 2

NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323

paired box 4

NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142

PCYT1A

phosphate cytidylyltransferase 1A, choline

MIM:620680

NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957

PDE11A

phosphodiesterase 11A

MIM:610475

NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339

PDGFB

platelet derived growth factor subunit B

MIM:615483

NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982

PDGFRB

platelet derived growth factor receptor beta

MIM:615007

NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872

PDHA2

pyruvate dehydrogenase E1 subunit alpha 2

MIM:619828

NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464

PKD2

polycystin 2, transient receptor potential cation channel

MIM:613095

NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777

PKHD1

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

MIM:263200

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

plakophilin 2

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

PLA2G6

phospholipase A2 group VI

MIM:612953

NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778

PLAAT3

phospholipase A and acyltransferase 3

MIM:620683

NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883

PLCZ1

phospholipase C zeta 1

MIM:617214

NCBI chr12:18,645,609...18,738,012
Ensembl chr12:18,683,169...18,738,100

plasminogen

NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097

perilipin 1

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

phospholamban

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

PMP22

peripheral myelin protein 22

MIM:162500

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

PMVK

phosphomevalonate kinase

MIM:175800

NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719

PNLDC1

PARN like ribonuclease domain containing exonuclease 1

MIM:619528

NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704

PNPLA6

patatin like phospholipase domain containing 6

MIM:275400

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

POF1B

POF1B actin binding protein

MIM:300604

NCBI chr X:85,277,396...85,379,665
Ensembl chr X:85,277,396...85,379,717

POGLUT1

protein O-glucosyltransferase 1

MIM:617232

NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708

POLE

DNA polymerase epsilon, catalytic subunit

onset

DNA:mutations:multiple

RGD

PMID:27244218

RGD:151356953

NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376

POLG

DNA polymerase gamma, catalytic subunit

MIM:258450

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

POLRMT

RNA polymerase mitochondrial

MIM:619743

NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537

POT1

protection of telomeres 1

MIM:620367

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

PPARG

peroxisome proliferator activated receptor gamma

MIM:604367

NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356

PPOX

protoporphyrinogen oxidase

MIM:176200

NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013

PPP2R3C

protein phosphatase 2 regulatory subunit B''gamma

MIM:618420

NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517

PR/SET domain 10

NCBI chr11:129,899,711...130,002,835
Ensembl chr11:129,899,706...130,002,835

PR/SET domain 16

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

peroxiredoxin 1

NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732

peroxiredoxin 3

NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812

PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2

MIM:194200

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

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

MIM:610489

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

PRKN

parkin RBR E3 ubiquitin protein ligase

MIM:600116

NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775

prolactin receptor

NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487

PRNP

prion protein (Kanno blood group)

MIM:603218

NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590

PRPF4

pre-mRNA splicing tri-snRNP complex factor PRPF4

MIM:615922

NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009

PRPF6

pre-mRNA processing factor 6

MIM:613983

NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100

PRPF8

pre-mRNA processing factor 8

MIM:600059

NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867

PTPN13 like Y-linked

NCBI chr Y:22,490,397...22,514,637
Ensembl chr Y:22,490,397...22,514,637

PRY2

PTPN13 like Y-linked 2

NCBI chr Y:22,071,706...22,084,875
Ensembl chr Y:22,071,756...22,096,007

prosaposin

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

PTF1A

pancreas associated transcription factor 1a

MIM:615935

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

PUM1

pumilio RNA binding family member 1

MIM:617931

NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991

glutamine rich 2

NCBI chr17:76,274,049...76,310,964
Ensembl chr17:76,274,049...76,308,276

RAB39B

RAB39B, member RAS oncogene family

MIM:311510

NCBI chr X:155,258,235...155,264,491
Ensembl chr X:155,258,235...155,264,491

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

MIM:615916

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

RBM12

RNA binding motif protein 12

MIM:617629

NCBI chr20:35,648,925...35,664,900
Ensembl chr20:35,648,925...35,664,956

RBM20

RNA binding motif protein 20

MIM:613172

NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,471

RBMY1A1

RNA binding motif protein Y-linked family 1 member A1

NCBI chr Y:21,534,879...21,559,683
Ensembl chr Y:21,534,879...21,549,326

REEP1

receptor accessory protein 1

MIM:610250

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

ret proto-oncogene

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

RFXANK

regulatory factor X associated ankyrin containing protein

MIM:620815

NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869

RNA sensor RIG-I

NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348

RILPL1

Rab interacting lysosomal protein like 1

MIM:619790

NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719

RIPOR2

RHO family interacting cell polarization regulator 2

MIM:607017

NCBI chr 6:24,804,284...25,042,168
Ensembl chr 6:24,804,282...25,042,170

RP1

RP1 axonemal microtubule associated

MIM:180100

NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720

RP1 like 1

NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187

RP2

RP2 activator of ARL3 GTPase

MIM:312600

NCBI chr X:46,837,043...46,882,358
Ensembl chr X:46,837,043...46,882,358

RPGR

retinitis pigmentosa GTPase regulator

MIM:304020

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

RPL10L

ribosomal protein L10 like

MIM:619689

NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781

RPS19

ribosomal protein S19

MIM:105650

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

RPS4Y2

ribosomal protein S4 Y-linked 2

NCBI chr Y:20,756,108...20,781,032
Ensembl chr Y:20,756,108...20,781,032

RRM1

ribonucleotide reductase catalytic subunit M1

MIM:620647

NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

MIM:613077

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

ryanodine receptor 2

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

SAMD7

sterile alpha motif domain containing 7

MIM:620762

NCBI chr 3:169,911,572...169,939,175
Ensembl chr 3:169,911,572...169,939,175

SCN1A

sodium voltage-gated channel alpha subunit 1

MIM:609634

NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806

SCN4A

sodium voltage-gated channel alpha subunit 4

MIM:608390

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

SCN5A

sodium voltage-gated channel alpha subunit 5

MIM:601154

NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743

SCNN1G

sodium channel epithelial 1 subunit gamma

MIM:618114

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

SDHD

succinate dehydrogenase complex subunit D

MIM:168000

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

SEC23B

SEC23 homolog B, COPII coat complex component

MIM:224100

NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415

SEC61A1

SEC61 translocon subunit alpha 1

MIM:617056

NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705

septin 12

NCBI chr16:4,777,606...4,791,828
Ensembl chr16:4,777,606...4,788,398

SERPING1

serpin family G member 1

MIM:106100

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

SERPINH1

serpin family H member 1

MIM:610504

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

senataxin

NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986

SFTPA1

surfactant protein A1

MIM:619611

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

sarcoglycan delta

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

shugoshin 1

NCBI chr 3:20,160,593...20,186,886
Ensembl chr 3:20,160,593...20,186,206

SH3BP2

SH3 domain binding protein 2

MIM:118400

NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291

SHANK3

SH3 and multiple ankyrin repeat domains 3

MIM:613950

NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212

SHOC1

shortage in chiasmata 1

MIM:619949

NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008

SLC17A9

solute carrier family 17 member 9

MIM:616063

NCBI chr20:62,952,709...62,969,585
Ensembl chr20:62,952,707...62,969,585

SLC19A2

solute carrier family 19 member 2

MIM:249270

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

SLC19A3

solute carrier family 19 member 3

MIM:607483

NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028

SLC25A4

solute carrier family 25 member 4

MIM:609283

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

SLC26A1

solute carrier family 26 member 1

MIM:620372

NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440

SLC26A8

solute carrier family 26 member 8

MIM:606766

NCBI chr 6:35,943,516...36,024,641
Ensembl chr 6:35,943,516...36,024,868

SLC2A10

solute carrier family 2 member 10

MIM:208050

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

SLC34A2

solute carrier family 34 member 2

MIM:265100

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

SLC37A4

solute carrier family 37 member 4

MIM:619525

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

SLC39A14

solute carrier family 39 member 14

MIM:144755

NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129

SLC44A4

solute carrier family 44 member 4

MIM:617606

NCBI chr 6:31,863,192...31,878,997
Ensembl chr 6:31,863,192...31,879,046

SLC4A1

solute carrier family 4 member 1 (Diego blood group)

MIM:612653

NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141

SLC4A11

solute carrier family 4 member 11

MIM:217400

NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559

SLC4A3

solute carrier family 4 member 3

MIM:620231

NCBI chr 2:219,627,630...219,641,971
Ensembl chr 2:219,627,394...219,641,980

SLC7A6OS

solute carrier family 7 member 6 opposite strand

MIM:619191

NCBI chr16:68,298,034...68,310,946
Ensembl chr16:68,284,503...68,310,946

SLCO2A1

solute carrier organic anion transporter family member 2A1

MIM:167100 MIM:614441

NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184

SMAD family member 2

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

SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

MIM:620792

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

SMN1

survival of motor neuron 1, telomeric

MIM:271150

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

SMPD1

sphingomyelin phosphodiesterase 1

MIM:607616

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

SMPX

small muscle protein X-linked

MIM:301075

NCBI chr X:21,705,978...21,758,116
Ensembl chr X:21,705,978...21,758,116

synuclein alpha

NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315

SNORD118

small nucleolar RNA, C/D box 118

MIM:614561

NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587

SOCS1

suppressor of cytokine signaling 1

MIM:619375

NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204

SOD2

superoxide dismutase 2

RGD

PMID:11836586

RGD:1581258

NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529

SOHLH1

spermatogenesis and oogenesis specific basic helix-loop-helix 1

MIM:618115

NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498

SOX17

SRY-box transcription factor 17

DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple

RGD

PMID:29650961

RGD:329853735

NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892

SOX9

SRY-box transcription factor 9

MIM:278850

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

SPACA1

sperm acrosome associated 1

MIM:620490

NCBI chr 6:88,046,901...88,066,838
Ensembl chr 6:88,047,841...88,066,838

SPAG17

sperm associated antigen 17

MIM:619380

NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228

SPATA22

spermatogenesis associated 22

MIM:621001 MIM:621002

NCBI chr17:3,440,019...3,513,858
Ensembl chr17:3,440,019...3,513,852

SPG11

SPG11 vesicle trafficking associated, spatacsin

MIM:602099 MIM:604360 MIM:616668

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

SPG7

SPG7 matrix AAA peptidase subunit, paraplegin

MIM:607259

NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766

SPINK2

serine peptidase inhibitor Kazal type 2

MIM:618091

NCBI chr 4:56,809,860...56,821,869
Ensembl chr 4:56,809,860...56,821,742

SPRY2

sprouty RTK signaling antagonist 2

MIM:616818

NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126

SPTAN1

spectrin alpha, non-erythrocytic 1

MIM:620528 MIM:620538

NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662

SPTLC2

serine palmitoyltransferase long chain base subunit 2

MIM:613640

NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637

SRPK3

SRSF protein kinase 3

MIM:301134

NCBI chr X:153,781,041...153,785,730
Ensembl chr X:153,776,412...153,785,732

SSBP1

single stranded DNA binding protein 1

MIM:165510

NCBI chr 7:141,738,321...141,750,488
Ensembl chr 7:141,738,334...141,787,922

SSX family member 1

NCBI chr X:48,255,392...48,267,444
Ensembl chr X:48,255,392...48,267,444

STAG3

STAG3 cohesin complex component

MIM:615723

NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387

STK33

serine/threonine kinase 33

MIM:620849

NCBI chr11:8,334,824...8,594,228
Ensembl chr11:8,391,868...8,594,289

storkhead box 1

NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432

stereocilin

NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800

STT3A

STT3 oligosaccharyltransferase complex catalytic subunit A

MIM:619714

NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215

SUFU

SUFU negative regulator of hedgehog signaling

MIM:620343

NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535

SUN5

Sad1 and UNC84 domain containing 5

MIM:617187

NCBI chr20:32,983,775...33,004,433
Ensembl chr20:32,983,773...33,004,433

SYCE1

synaptonemal complex central element protein 1

MIM:616950

NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835

SYCP2

synaptonemal complex protein 2

MIM:258150

NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655

SYCP2L

synaptonemal complex protein 2 like

MIM:620840

NCBI chr 6:10,887,052...10,974,309
Ensembl chr 6:10,886,831...10,979,320

SYCP3

synaptonemal complex protein 3

MIM:270960

NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472

TAF4

TATA-box binding protein associated factor 4

MIM:620450

NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881

TAF4B

TATA-box binding protein associated factor 4b

MIM:615841

NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685

TBC1D24

TBC1 domain family member 24

MIM:616044

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

TBP

TATA-box binding protein

MIM:607136

NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870

TBX18

T-box transcription factor 18

MIM:143400

NCBI chr 6:84,732,496...84,764,598
Ensembl chr 6:84,687,351...84,764,598

TBX3

T-box transcription factor 3

MIM:181450

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

TDRD9

tudor domain containing 9

MIM:618110

NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667

TECRL

trans-2,3-enoyl-CoA reductase like

MIM:614021

NCBI chr 4:64,276,298...64,409,460
Ensembl chr 4:64,275,257...64,409,468

TENM4

teneurin transmembrane protein 4

MIM:616736

NCBI chr11:78,652,829...79,441,030
Ensembl chr11:78,652,829...79,441,030

TERB1

telomere repeat binding bouquet formation protein 1

MIM:619646

NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620

TERB2

telomere repeat binding bouquet formation protein 2

MIM:619645

NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229

TERT

telomerase reverse transcriptase

MIM:613989

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

testis expressed 11

NCBI chr X:70,511,227...70,908,711
Ensembl chr X:70,528,940...70,908,711

TEX14

testis expressed 14, intercellular bridge forming factor

MIM:617707

NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055

TEX15

testis expressed 15, meiosis and synapsis associated

MIM:617960

NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008

TGFBI

transforming growth factor beta induced

MIM:121820

NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818

THAP1

THAP domain containing 1

MIM:602629

NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325

THSD4

thrombospondin type 1 domain containing 4

MIM:619825

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

TIA1

TIA1 cytotoxic granule associated RNA binding protein

MIM:619133

NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660

TIE1

tyrosine kinase with immunoglobulin like and EGF like domains 1

MIM:619401

NCBI chr 1:43,300,982...43,323,108
Ensembl chr 1:43,300,982...43,323,108

TIMP3

TIMP metallopeptidase inhibitor 3

MIM:136900

NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041

TINF2

TERF1 interacting nuclear factor 2

MIM:613990

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

TLCD3B

TLC domain containing 3B

MIM:619531

NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978

TMEM43

transmembrane protein 43

MIM:604400

NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680

tenascin C

NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207

TNFAIP3

TNF alpha induced protein 3

MIM:616744

NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314

TNNC1

troponin C1, slow skeletal and cardiac type

MIM:611879 MIM:613243

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

TNNI3

troponin I3, cardiac type

MIM:611880 MIM:613286

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

TNNT1

troponin T1, slow skeletal type

MIM:620389

NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206

TNNT2

troponin T2, cardiac type

MIM:115195 MIM:601494

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

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

tropomyosin 1

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

triadin

NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189

TRIM32

tripartite motif containing 32

MIM:254110

NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300

TRIP13

thyroid hormone receptor interactor 13

MIM:619011

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

TRMT5

tRNA methyltransferase 5

MIM:616539

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

TRPC6

transient receptor potential cation channel subfamily C member 6

MIM:603965

NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562

TRPM3

transient receptor potential cation channel subfamily M member 3

MIM:620253

NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977

TRPV4

transient receptor potential cation channel subfamily V member 4

MIM:606071 MIM:617383

NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406

TRRAP

transformation/transcription domain associated protein

MIM:618778

NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831

testis specific 10

NCBI chr 2:98,997,261...99,154,966
Ensembl chr 2:98,997,261...99,154,964

tau tubulin kinase 2

NCBI chr15:42,738,730...42,921,000
Ensembl chr15:42,738,730...42,920,809

TTC21A

tetratricopeptide repeat domain 21A

MIM:618429

NCBI chr 3:39,107,680...39,138,900
Ensembl chr 3:39,107,680...39,138,903

TTLL5

tubulin tyrosine ligase like 5

MIM:615860

NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079

TUBB4A

tubulin beta 4A class IVa

MIM:128101

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

TUB like protein 3

NCBI chr12:2,890,891...2,941,138
Ensembl chr12:2,877,223...2,941,138

TYROBP

transmembrane immune signaling adaptor TYROBP

MIM:221770

NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295

ubiquilin 2

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

uromodulin

NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301

USP26

ubiquitin specific peptidase 26

MIM:301101

NCBI chr X:133,023,168...133,097,109
Ensembl chr X:133,023,168...133,097,109

USP48

ubiquitin specific peptidase 48

MIM:620227

NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606

USP9Y

ubiquitin specific peptidase 9 Y-linked

NCBI chr Y:12,701,231...12,860,839
Ensembl chr Y:12,537,650...12,860,839

VAMP1

vesicle associated membrane protein 1

MIM:108600

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

VAPB

VAMP associated protein B and C

MIM:608627

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

vinculin

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

VCP

valosin containing protein

MIM:616687

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

VCY

variable charge Y-linked

NCBI chr Y:13,985,772...13,986,473
Ensembl chr Y:13,985,772...13,986,473

VEZF1

vascular endothelial zinc finger 1

MIM:620247

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

VHL

von Hippel-Lindau tumor suppressor

MIM:193300

NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676

VPS11

VPS11 core subunit of CORVET and HOPS complexes

MIM:619637

NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972

VPS13A

vacuolar protein sorting 13 homolog A

MIM:200150

NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537

VPS13C

vacuolar protein sorting 13 homolog C

MIM:616840

NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473

VPS13D

vacuolar protein sorting 13 homolog D

MIM:607317

NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047

VPS16

VPS16 core subunit of CORVET and HOPS complexes

MIM:619291

NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732

VSX1

visual system homeobox 1

MIM:148300

NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141

WASHC5

WASH complex subunit 5

MIM:603563

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

WD repeat domain 19

NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810

WEE2

WEE2 oocyte meiosis inhibiting kinase

MIM:617996

NCBI chr 7:141,708,353...141,731,271
Ensembl chr 7:141,708,353...141,731,271

WRN

WRN RecQ like helicase

MIM:277700

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

XKRY

XK related, Y-linked (pseudogene)

NCBI chr  Y:17,768,980...17,770,560
Ensembl chr  Y:17,768,980...17,770,560
Ensembl chr  Y:17,768,980...17,770,560

XRCC2

X-ray repair cross complementing 2

MIM:619146

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

YEATS2

YEATS domain containing 2

MIM:615127

NCBI chr 3:183,697,797...183,812,624
Ensembl chr 3:183,697,797...183,812,624

ZFP36L2

ZFP36 ring finger protein like 2

MIM:620154

NCBI chr 2:43,222,402...43,226,606
Ensembl chr 2:43,222,402...43,226,606

ZMYND15

zinc finger MYND-type containing 15

MIM:615842

NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119

ZNF408

zinc finger protein 408

MIM:616469

NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912

ZP1

zona pellucida glycoprotein 1

MIM:615774

NCBI chr11:60,867,542...60,875,687
Ensembl chr11:60,867,542...60,875,693

ZP3

zona pellucida glycoprotein 3

MIM:617712

NCBI chr 7:76,397,522...76,442,069
Ensembl chr 7:76,397,518...76,442,071

ZPBP

zona pellucida binding protein

MIM:619799

NCBI chr 7:49,840,654...50,093,246
Ensembl chr 7:49,850,421...50,121,329

ZSWIM7

zinc finger SWIM-type containing 7

MIM:619831

NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717

Early young adult onset

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALG10B

ALG10 alpha-1,2-glucosyltransferase B

MIM:613688

NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721

beta-2-microglobulin

NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851

B4GALNT1

beta-1,4-N-acetyl-galactosaminyltransferase 1

MIM:609195

NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239

CARD9

caspase recruitment domain family member 9

MIM:212050

NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681

CEBPE

CCAAT enhancer binding protein epsilon

MIM:260570

NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256

CLCN1

chloride voltage-gated channel 1

MIM:160800

NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083

CNNM2

cyclin and CBS domain divalent metal cation transport mediator 2

MIM:616418

NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222

COL2A1

collagen type II alpha 1 chain

MIM:608805

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

DGKE

diacylglycerol kinase epsilon

MIM:615008

NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567

DNAJC3

DnaJ heat shock protein family (Hsp40) member C3

MIM:616192

NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988

desmoplakin

NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717

EIF2AK2

eukaryotic translation initiation factor 2 alpha kinase 2

MIM:619687

NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522

ERCC6L2

ERCC excision repair 6 like 2

MIM:615715

NCBI chr 9:95,875,691...96,041,092
Ensembl chr 9:95,871,264...96,121,154

estrogen receptor 2

NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112

GPIHBP1

glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

MIM:615947

NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170

glycogenin 1

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

HCN4

hyperpolarization activated cyclic nucleotide gated potassium channel 4

MIM:163800

NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958

HGSNAT

heparan-alpha-glucosaminide N-acetyltransferase

MIM:616544

NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855

HROB

homologous recombination factor with OB-fold

MIM:620897

NCBI chr17:44,141,930...44,162,476
Ensembl chr17:44,141,906...44,162,476

HTRA1

HtrA serine peptidase 1

MIM:600142

NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907

insulin

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

KASH5

KASH domain containing 5

MIM:620548

NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990

KCNA5

potassium voltage-gated channel subfamily A member 5

MIM:612240

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

MIM:613695

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

KCNH2

potassium voltage-gated channel subfamily H member 2

MIM:613688

NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321

KCNJ2

potassium inwardly rectifying channel subfamily J member 2

MIM:170390

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

KCNJ5

potassium inwardly rectifying channel subfamily J member 5

MIM:613485

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

KCTD17

potassium channel tetramerization domain containing 17

MIM:616398

NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390

LHB

luteinizing hormone subunit beta

MIM:228300

NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091

DNA ligase 3

NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743

lamin A/C

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

NRCAM

neuronal cell adhesion molecule

MIM:619833

NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717

P2RX2

purinergic receptor P2X 2

MIM:608224

NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388

PIK3R5

phosphoinositide-3-kinase regulatory subunit 5

MIM:615217

NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712

PMP2

peripheral myelin protein 2

MIM:618279

NCBI chr 8:81,440,326...81,447,439
Ensembl chr 8:81,440,326...81,447,439

POLG

DNA polymerase gamma, catalytic subunit

MIM:607459

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

POPDC1

popeye domain cAMP effector 1

MIM:616812

NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157

PRKN

parkin RBR E3 ubiquitin protein ligase

MIM:600116

NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775

PRKRA

protein activator of interferon induced protein kinase EIF2AK2

MIM:612067

NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512

PRRT2

proline rich transmembrane protein 2

MIM:602066

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

REEP1

receptor accessory protein 1

MIM:614751

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

REEP6

receptor accessory protein 6

MIM:617304

NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927

RNF216

ring finger protein 216

MIM:212840

NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696

RRAGD

Ras related GTP binding D

MIM:620152

NCBI chr 6:89,364,616...89,412,273
Ensembl chr 6:89,364,616...89,412,273

SCARB2

scavenger receptor class B member 2

MIM:254900

NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536

SELENBP1

selenium binding protein 1

MIM:618148

NCBI chr 1:151,364,304...151,372,705
Ensembl chr 1:151,364,304...151,372,707

semaphorin 3A

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

SERPINA1

serpin family A member 1

MIM:613490

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

SLC4A4

solute carrier family 4 member 4

MIM:604278

NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087

SMN1

survival of motor neuron 1, telomeric

MIM:253400

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

SMN2

survival of motor neuron 2, centromeric

MIM:253400

NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522

syntrophin alpha 1

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

SOHLH1

spermatogenesis and oogenesis specific basic helix-loop-helix 1

MIM:617690

NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498

SPTLC1

serine palmitoyltransferase long chain base subunit 1

MIM:620285

NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413

STAT1

signal transducer and activator of transcription 1

MIM:614162

NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960

toll like receptor 7

NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361

toll like receptor 8

NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169

TOR1AIP1

torsin 1A interacting protein 1

MIM:617072

NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077

TPP1

tripeptidyl peptidase 1

MIM:609270

NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448

TRNT1

tRNA nucleotidyl transferase 1

MIM:616959

NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435

titin

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

TWNK

twinkle mtDNA helicase

MIM:607459

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

unc-13 homolog D

NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785

Wnt family member 4

NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969

Intermediate young adult onset

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP6AP2

ATPase H+ transporting accessory protein 2

MIM:300911

NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848

ATP7B

ATPase copper transporting beta

MIM:277900

NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125

C14orf39

chromosome 14 open reading frame 39

MIM:619203

NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543

CACNB4

calcium voltage-gated channel auxiliary subunit beta 4

MIM:607682

NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167

CHRNA1

cholinergic receptor nicotinic alpha 1 subunit

MIM:601462

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

endoglin

NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773

FIG4

FIG4 phosphoinositide 5-phosphatase

MIM:612691

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

GATA2

GATA binding protein 2

MIM:614172

NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201

granulin precursor

NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106

Janus kinase 2

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

KCNJ11

potassium inwardly rectifying channel subfamily J member 11

MIM:610582 MIM:616329

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

NDUFS2

NADH:ubiquinone oxidoreductase core subunit S2

MIM:620569

NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723

ribonuclease H1

NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333

SCN4A

sodium voltage-gated channel alpha subunit 4

MIM:613345

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

SLC12A5

solute carrier family 12 member 5

MIM:616685

NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150

SLC22A12

solute carrier family 22 member 12

MIM:220150

NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353

sclerostin

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

synaptojanin 1

NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040

tumor protein p53

NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546

TRNT1

tRNA nucleotidyl transferase 1

MIM:616959

NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435

YARS1

tyrosyl-tRNA synthetase 1

MIM:608323

NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031

Late young adult onset

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

annexin A11

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

ATP7B

ATPase copper transporting beta

MIM:277900

NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125

ataxin 3

NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621

CACNB4

calcium voltage-gated channel auxiliary subunit beta 4

MIM:607682

NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167

caveolin 3

NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808

complement factor H

NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476

CHCHD10

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

MIM:615048

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

CHRNA2

cholinergic receptor nicotinic alpha 2 subunit

MIM:610353

NCBI chr 8:27,459,756...27,479,261
Ensembl chr 8:27,459,756...27,479,883

CLCN2

chloride voltage-gated channel 2

MIM:615651

NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650

CSF1R

colony stimulating factor 1 receptor

MIM:221820

NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372

CYP27A1

cytochrome P450 family 27 subfamily A member 1

MIM:213700

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

dynamin 1 like

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

EPCAM

epithelial cell adhesion molecule

MIM:613244

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

GDAP2

ganglioside induced differentiation associated protein 2

MIM:618369

NCBI chr 1:117,863,485...117,929,621
Ensembl chr 1:117,863,485...117,929,621

GFAP

glial fibrillary acidic protein

MIM:203450

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

H6PD

hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase

MIM:604931

NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337

HSPB1

heat shock protein family B (small) member 1

MIM:606595

NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813

KCNA5

potassium voltage-gated channel subfamily A member 5

MIM:612240

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

KCNJ11

potassium inwardly rectifying channel subfamily J member 11

MIM:616329

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

lamin B receptor

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

LRP12

LDL receptor related protein 12

MIM:620452

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

MAPT

microtubule associated protein tau

MIM:600274

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

MFSD8

major facilitator superfamily domain containing 8

MIM:616170

NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034

MME

membrane metalloendopeptidase

MIM:617017

NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704

myosin heavy chain 7

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

NAGA

alpha-N-acetylgalactosaminidase

MIM:609242

NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842

POLG

DNA polymerase gamma, catalytic subunit

MIM:157640

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

POLG2

DNA polymerase gamma 2, accessory subunit

MIM:610131

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

PRKN

parkin RBR E3 ubiquitin protein ligase

MIM:600116

NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775

PRNP

prion protein (Kanno blood group)

MIM:606688

NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590

peripherin 2

NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597

PSEN1

presenilin 1

MIM:600274 MIM:613694

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

PTEN

phosphatase and tensin homolog

MIM:613028

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

RAX2

retina and anterior neural fold homeobox 2

MIM:620102

NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228

SAMD9L

sterile alpha motif domain containing 9 like

MIM:619806

NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385

SCN3B

sodium voltage-gated channel beta subunit 3

MIM:613120

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

SLC22A12

solute carrier family 22 member 12

MIM:220150

NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353

synaptojanin 1

NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040

TMEM126B

transmembrane protein 126B

MIM:618250

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

VAPB

VAMP associated protein B and C

MIM:182980

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

VCP

valosin containing protein

MIM:167320

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

XRCC1

X-ray repair cross complementing 1