Short stature - Ontology Report - Rat Genome Database

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

AARS1

alanyl-tRNA synthetase 1

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

AASS

aminoadipate-semialdehyde synthase

NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308

ABCA12

ATP binding cassette subfamily A member 12

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

ABCB11

ATP binding cassette subfamily B member 11

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

ABCB6

ATP binding cassette subfamily B member 6 (Langereis blood group)

NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994

ABCC8

ATP binding cassette subfamily C member 8

ClinVar Annotator: match by term: Short stature

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

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

ABCD1

ATP binding cassette subfamily D member 1

NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755

ABCG4

ATP binding cassette subfamily G member 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,149,052...119,162,666
Ensembl chr11:119,149,052...119,162,653

ABHD5

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

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

ACAN

aggrecan

ClinVar Annotator: match by term: Short stature

NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353

ACD

ACD shelterin complex subunit and telomerase recruitment factor

NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810

ACER3

alkaline ceramidase 3

NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797

ACP5

acid phosphatase 5, tartrate resistant

NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993

ACRV1

acrosomal vesicle protein 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:125,671,522...125,680,847
Ensembl chr11:125,671,522...125,680,874

ACTB

actin beta

ClinVar Annotator: match by term: Short stature

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

ACTG1

actin gamma 1

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

ACTL6B

actin like 6B

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

ADA2

adenosine deaminase 2

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

ADAMTS10

ADAM metallopeptidase with thrombospondin type 1 motif 10

NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735

ADAMTS15

ADAM metallopeptidase with thrombospondin type 1 motif 15

ClinVar Annotator: match by term: Short stature

NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645

ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif 17

NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005

ADAMTS2

ADAM metallopeptidase with thrombospondin type 1 motif 2

NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461

ADAMTS8

ADAM metallopeptidase with thrombospondin type 1 motif 8

ClinVar Annotator: match by term: Short stature

NCBI chr11:130,404,923...130,428,609
Ensembl chr11:130,404,923...130,428,609

ADAMTSL2

ADAMTS like 2

NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519

ADAR

adenosine deaminase RNA specific

NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013

ADARB1

adenosine deaminase RNA specific B1

NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560

ADAT3

adenosine deaminase tRNA specific 3

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

ADGRB3

adhesion G protein-coupled receptor B3

ClinVar Annotator: match by term: Short stature

NCBI chr 6:68,635,282...69,389,506
Ensembl chr 6:68,635,282...69,390,571

ADH5

alcohol dehydrogenase 5 (class III), chi polypeptide

NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801

ADNP

activity dependent neuroprotector homeobox

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

AFF2

ALF transcription elongation factor 2

ClinVar Annotator: match by term: Short stature

NCBI chr X:148,500,617...149,000,663
Ensembl chr X:148,500,617...149,000,663

AFF3

ALF transcription elongation factor 3

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

AFF4

ALF transcription elongation factor 4

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

AFG2A

AFG2 AAA ATPase homolog A

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

AGA

aspartylglucosaminidase

NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437

AGL

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023

AHSG

alpha 2-HS glycoprotein

NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318

AIFM1

apoptosis inducing factor mitochondria associated 1

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

AIFM3

apoptosis inducing factor mitochondria associated 3

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,965,172...20,981,358
Ensembl chr22:20,965,108...20,981,360

AKT1

AKT serine/threonine kinase 1

NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751

ALDH18A1

aldehyde dehydrogenase 18 family member A1

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

ALDH3A2

aldehyde dehydrogenase 3 family member A2

NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760

ALDOA

aldolase, fructose-bisphosphate A

NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457

ALG12

ALG12 alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Short stature

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

ALG2

ALG2 alpha-1,3/1,6-mannosyltransferase

NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942

ALMS1

ALMS1 centrosome and basal body associated protein

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

ALOX12B

arachidonate 12-lipoxygenase, 12R type

NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716

ALOXE3

arachidonate lipoxygenase 3

ClinVar Annotator: match by term: Short stature

NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047

ALPL

alkaline phosphatase, biomineralization associated

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

ALS2

alsin Rho guanine nucleotide exchange factor ALS2

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

AMER1

APC membrane recruitment protein 1

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

AMMECR1

AMMECR nuclear protein 1

ClinVar Annotator: match by term: Short stature

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

AMPD2

adenosine monophosphate deaminase 2

NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051

ANAPC1

anaphase promoting complex subunit 1

NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690

ANGPT2

angiopoietin 2

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618

NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409

ANK1

ankyrin 1

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

ANKH

ANKH inorganic pyrophosphate transport regulator

NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778

ANKLE2

ankyrin repeat and LEM domain containing 2

NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832

ANKRD11

ankyrin repeat domain containing 11

PMID:21782149 PMID:25424714

DNA:deletions, SNPs:CDS:multiple
DNA:mutations:CDS:multiple

HPO
RGD

RGD:11068938, RGD:11086621

NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561

ANKRD17

ankyrin repeat domain 17

NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798

ANKS3

ankyrin repeat and sterile alpha motif domain containing 3

ClinVar Annotator: match by term: Short stature

NCBI chr16:4,696,511...4,734,271
Ensembl chr16:4,696,510...4,734,378

ANTXR1

ANTXR cell adhesion molecule 1

NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327

AP001993.1

novel transcript

ClinVar Annotator: match by term: Short stature

NCBI chr11:127,067,002...127,101,306
Ensembl chr11:127,021,736...127,172,363

AP1B1

adaptor related protein complex 1 subunit beta 1

NCBI chr22:29,327,680...29,388,570
Ensembl chr22:29,327,680...29,388,583

AP1S2

adaptor related protein complex 1 subunit sigma 2

NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931

AP3B2

adaptor related protein complex 3 subunit beta 2

NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112

AP4B1

adaptor related protein complex 4 subunit beta 1

NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,201

AP4E1

adaptor related protein complex 4 subunit epsilon 1

NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895

AP4M1

adaptor related protein complex 4 subunit mu 1

NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345

AP4S1

adaptor related protein complex 4 subunit sigma 1

NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996

APLP2

amyloid beta precursor like protein 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:130,069,894...130,144,805
Ensembl chr11:130,068,147...130,144,811

APOA1

apolipoprotein A1

ClinVar Annotator: match by term: Short stature

NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622

APOA4

apolipoprotein A4

ClinVar Annotator: match by term: Short stature

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

APOA5

apolipoprotein A5

ClinVar Annotator: match by term: Short stature

NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420

APOC3

apolipoprotein C3

ClinVar Annotator: match by term: Short stature

NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072

AQP2

aquaporin 2

NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878

ARCN1

archain 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033

ARHGAP32

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Short stature

NCBI chr11:128,965,060...129,279,632
Ensembl chr11:128,965,060...129,279,324

ARHGEF12

Rho guanine nucleotide exchange factor 12

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,336,413...120,489,937
Ensembl chr11:120,336,413...120,489,937

ARID1A

AT-rich interaction domain 1A

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

ARID1B

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Short stature

PMID:9536098 PMID:15057123 PMID:17576681 PMID:22405089 PMID:25741868 More...

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

ARID2

AT-rich interaction domain 2

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

ARL6

ADP ribosylation factor like GTPase 6

NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229

ARNT2

aryl hydrocarbon receptor nuclear translocator 2

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

ARPC4

actin related protein 2/3 complex subunit 4

NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101

ARSB

arylsulfatase B

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

ARSL

arylsulfatase L

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

ARV1

ARV1 homolog, fatty acid homeostasis modulator

NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733

ARVCF

ARVCF delta catenin family member

ClinVar Annotator: match by term: Short stature

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

ARX

aristaless related homeobox

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

ASAH1

N-acylsphingosine amidohydrolase 1

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

ASL

argininosuccinate lyase

NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697

ASPM

assembly factor for spindle microtubules

NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694

ASPRV1

aspartic peptidase retroviral like 1

NCBI chr 2:69,932,717...70,087,375
Ensembl chr 2:69,960,089...69,961,631

ASXL1

ASXL transcriptional regulator 1

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

ATM

ATM serine/threonine kinase

NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,223,044...108,369,102

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

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

ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

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

ATP5F1D

ATP synthase F1 subunit delta

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

ATP5MG

ATP synthase membrane subunit g

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,401,606...118,409,847
Ensembl chr11:118,401,346...118,433,278

ATP6V0A2

ATPase H+ transporting V0 subunit a2

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

ATP6V1A

ATPase H+ transporting V1 subunit A

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

ATP6V1B2

ATPase H+ transporting V1 subunit B2

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

ATP6V1E1

ATPase H+ transporting V1 subunit E1

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

ATP7A

ATPase copper transporting alpha

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

ATP8A2

ATPase phospholipid transporting 8A2

NCBI chr13:25,371,974...26,025,851
Ensembl chr13:25,371,974...26,025,851

ATP8B1

ATPase phospholipid transporting 8B1

NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315

ATR

ATR serine/threonine kinase

NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733

ATRIP

ATR interacting protein

NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645

ATRX

ATRX chromatin remodeler

ClinVar Annotator: match by term: Short stature

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

AUTS2

activator of transcription and developmental regulator AUTS2

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

AVPR2

arginine vasopressin receptor 2

NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166

B3GALT6

beta-1,3-galactosyltransferase 6

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

B3GAT3

beta-1,3-glucuronyltransferase 3

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

B3GLCT

beta 3-glucosyltransferase

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

B4GALT7

beta-1,4-galactosyltransferase 7

NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330

BACE1

beta-secretase 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259

BACE1-AS

BACE1 antisense RNA

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,291,346...117,292,170
Ensembl chr11:117,288,453...117,293,578

BANF1

BAF nuclear assembly factor 1

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

BARX2

BARX homeobox 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:129,375,233...129,452,279
Ensembl chr11:129,375,848...129,452,279

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

BBIP1

BBSome interacting protein 1

NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201

BBS1

Bardet-Biedl syndrome 1

NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613

BBS10

Bardet-Biedl syndrome 10

NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415

BBS12

Bardet-Biedl syndrome 12

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

BBS2

Bardet-Biedl syndrome 2

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

BBS4

Bardet-Biedl syndrome 4

NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475

BBS5

Bardet-Biedl syndrome 5

NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655

BBS7

Bardet-Biedl syndrome 7

NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487

BBS9

Bardet-Biedl syndrome 9

NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180

BCAS3

BCAS3 microtubule associated cell migration factor

NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838

BCL11A

BCL11 transcription factor A

NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467

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

BCL9L

BCL9 like

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,896,136...118,925,926
Ensembl chr11:118,893,875...118,925,926

BCOR

BCL6 corepressor

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

BCR

BCR activator of RhoGEF and GTPase

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

BDNF

brain derived neurotrophic factor

NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058

BGN

biglycan

NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546

BICRA

BRD4 interacting chromatin remodeling complex associated protein

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

BLID

BH3-like motif containing, cell death inducer

ClinVar Annotator: match by term: Short stature

NCBI chr11:122,115,340...122,116,215
Ensembl chr11:122,115,340...122,116,215

BMP1

bone morphogenetic protein 1

NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326

BMP15

bone morphogenetic protein 15

NCBI chr X:50,910,735...50,916,641
Ensembl chr X:50,910,735...50,916,641

BMP2

bone morphogenetic protein 2

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

BMPR1A

bone morphogenetic protein receptor type 1A

NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,756,601...86,932,825

BMPR1B

bone morphogenetic protein receptor type 1B

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

BNC1

basonuclin 1

NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664

BPNT2

3'(2'), 5'-bisphosphate nucleotidase 2

NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867

BPTF

bromodomain PHD finger transcription factor

NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378

BRAF

B-Raf proto-oncogene, serine/threonine kinase

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

BRCA1

BRCA1 DNA repair associated

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

BRCA2

BRCA2 DNA repair associated

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

BRCC3

BRCA1/BRCA2-containing complex subunit 3

NCBI chr X:155,071,508...155,123,077
Ensembl chr X:155,071,420...155,123,077

BRD4

bromodomain containing 4

ClinVar Annotator: match by term: Short stature

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

BRF1

BRF1 RNA polymerase III transcription initiation factor subunit

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

BRIP1

BRCA1 interacting helicase 1

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

BRPF1

bromodomain and PHD finger containing 1

NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019

BSX

brain specific homeobox

ClinVar Annotator: match by term: Short stature

NCBI chr11:122,977,570...122,981,834
Ensembl chr11:122,977,570...122,981,834

BTK

Bruton tyrosine kinase

NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796

BUB1

BUB1 mitotic checkpoint serine/threonine kinase

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

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

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

BUB3

BUB3 mitotic checkpoint protein

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

BUD13

BUD13 homolog

ClinVar Annotator: match by term: Short stature

NCBI chr11:116,748,173...116,772,987
Ensembl chr11:116,748,170...116,772,987

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

C18orf32

chromosome 18 open reading frame 32

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

C1QTNF5

C1q and TNF related 5

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940

C1R

complement C1r

NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540

C1S

complement C1s

NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032

C22orf39

chromosome 22 open reading frame 39

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,440,886...19,447,711
Ensembl chr22:19,351,368...19,447,711

C2CD2L

C2CD2 like

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,102,249...119,118,544
Ensembl chr11:119,102,198...119,118,544

C2orf69

chromosome 2 open reading frame 69

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

CA2

carbonic anhydrase 2

NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493

CA8

carbonic anhydrase 8

NCBI chr 8:60,185,412...60,281,400
Ensembl chr 8:60,185,412...60,281,400

CACNA1A

calcium voltage-gated channel subunit alpha1 A

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

CACNA1B

calcium voltage-gated channel subunit alpha1 B

NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624

CACNA2D1

calcium voltage-gated channel auxiliary subunit alpha2delta 1

NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956

CADM1

cell adhesion molecule 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:115,169,236...115,504,415
Ensembl chr11:115,169,218...115,504,957

CAMK2B

calcium/calmodulin dependent protein kinase II beta

NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577

CAMK2G

calcium/calmodulin dependent protein kinase II gamma

NCBI chr10:73,812,501...73,874,555
Ensembl chr10:73,812,501...73,874,591

CAMTA1

calmodulin binding transcription activator 1

NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706

CANT1

calcium activated nucleotidase 1

ClinVar Annotator: match by term: Short stature

NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867

CAPN15

calpain 15

NCBI chr16:527,712...554,636
Ensembl chr16:527,712...554,636

CARMIL2

capping protein regulator and myosin 1 linker 2

NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569

CARS1

cysteinyl-tRNA synthetase 1

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

CASK

calcium/calmodulin dependent serine protein kinase

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

CASP8

caspase 8

NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,361,836

CASR

calcium sensing receptor

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

CASZ1

castor zinc finger 1

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

CAV1

caveolin 1

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

CBL

Cbl proto-oncogene

ClinVar Annotator: match by term: Short stature

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

CCDC120

coiled-coil domain containing 120

ClinVar Annotator: match by term: Short stature

NCBI chr X:49,053,572...49,069,858
Ensembl chr X:49,053,572...49,069,857

CCDC134

coiled-coil domain containing 134

NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,679...41,832,164

CCDC15

coiled-coil domain containing 15

ClinVar Annotator: match by term: Short stature

NCBI chr11:124,954,202...125,041,489
Ensembl chr11:124,954,121...125,041,489

CCDC153

coiled-coil domain containing 153

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,190,254...119,195,841
Ensembl chr11:119,190,250...119,196,769

CCDC188

coiled-coil domain containing 188

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,148,416...20,151,055
Ensembl chr22:20,148,416...20,151,055

CCDC22

coiled-coil domain containing 22

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

CCDC8

coiled-coil domain containing 8

NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564

CCN6

cellular communication network factor 6

NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686

CCNQ

cyclin Q

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

CD3D

CD3 delta subunit of T-cell receptor complex

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705

CD3E

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175

CD3G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Short stature

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

CD96

CD96 molecule

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

CDC42BPB

CDC42 binding protein kinase beta

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

CDC45

cell division cycle 45

ClinVar Annotator: match by term: Short stature

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

CDC6

cell division cycle 6

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

CDCA7

cell division cycle associated 7

NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997

CDH3

cadherin 3

NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468

CDIN1

CDAN1 interacting nuclease 1

NCBI chr15:36,579,626...36,810,244
Ensembl chr15:36,579,626...36,810,248

CDK10

cyclin dependent kinase 10

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

CDK13

cyclin dependent kinase 13

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

CDK19

cyclin dependent kinase 19

NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958

CDK5RAP2

CDK5 regulatory subunit associated protein 2

NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170

CDK6

cyclin dependent kinase 6

NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573

CDKN1C

cyclin dependent kinase inhibitor 1C

NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775

CDON

cell adhesion associated, oncogene regulated

ClinVar Annotator: match by term: Short stature

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

CDSN

corneodesmosin

NCBI chr 6:31,115,087...31,120,446
Ensembl chr 6:31,115,087...31,120,446

CDT1

chromatin licensing and DNA replication factor 1

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

CELF2

CUGBP Elav-like family member 2

NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675

CENATAC

centrosomal AT-AC splicing factor

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,998,138...119,015,793
Ensembl chr11:118,998,138...119,015,793

CENPE

centromere protein E

NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445

CENPJ

centromere protein J

NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889

CEP120

centrosomal protein 120

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

CEP135

centrosomal protein 135

NCBI chr 4:55,948,945...56,033,361
Ensembl chr 4:55,948,871...56,033,361

CEP152

centrosomal protein 152

NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146

CEP164

centrosomal protein 164

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266

CEP19

centrosomal protein 19

NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250

CEP290

centrosomal protein 290

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

CEP57

centrosomal protein 57

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

CEP63

centrosomal protein 63

NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789

CEP76

centrosomal protein 76

ClinVar Annotator: match by term: Short stature

NCBI chr18:12,661,956...12,702,777
Ensembl chr18:12,661,833...12,702,777

CERS3

ceramide synthase 3

NCBI chr15:100,400,395...100,544,683
Ensembl chr15:100,400,395...100,544,995

CFAP410

cilia and flagella associated protein 410

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

CFAP418

cilia and flagella associated protein 418

NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201

CHCHD10

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

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

CHD1L

chromodomain helicase DNA binding protein 1 like

ClinVar Annotator: match by term: Short stature

NCBI chr 1:147,172,747...147,295,762
Ensembl chr 1:147,242,654...147,295,765

CHD4

chromodomain helicase DNA binding protein 4

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

CHD7

chromodomain helicase DNA binding protein 7

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

CHEK1

checkpoint kinase 1

ClinVar Annotator: match by term: Short stature

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

CHKA

choline kinase alpha

NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444

CHRNA7

cholinergic receptor nicotinic alpha 7 subunit

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

CHRNG

cholinergic receptor nicotinic gamma subunit

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

CHST3

carbohydrate sulfotransferase 3

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

CHSY1

chondroitin sulfate synthase 1

NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048

CIT

citron rho-interacting serine/threonine kinase

NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320

CKAP2L

cytoskeleton associated protein 2 like

NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664

CLASP1

cytoplasmic linker associated protein 1

ClinVar Annotator: match by term: Short stature

PMID:12409455 PMID:21474760 PMID:21990275 PMID:22581640 PMID:23794361 More...

NCBI chr 2:121,337,776...121,649,462
Ensembl chr 2:121,337,776...121,649,476

CLCN5

chloride voltage-gated channel 5

NCBI chr X:49,922,596...50,099,230
Ensembl chr X:49,922,596...50,099,235

CLCN7

chloride voltage-gated channel 7

NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077

CLDN5

claudin 5

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545

CLGN

calmegin

ClinVar Annotator: match by term: Short stature

NCBI chr 4:140,388,453...140,427,648
Ensembl chr 4:140,388,453...140,427,661

CLIC4

chloride intracellular channel 4

ClinVar Annotator: match by term: Short stature

NCBI chr 1:24,745,447...24,844,321
Ensembl chr 1:24,745,382...24,844,321

CLIP1

CAP-Gly domain containing linker protein 1

ClinVar Annotator: match by term: Short stature

NCBI chr12:122,271,469...122,422,956
Ensembl chr12:122,271,432...122,422,669

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

CLMP

CXADR like membrane protein

ClinVar Annotator: match by term: Short stature

NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,248

CLPP

caseinolytic mitochondrial matrix peptidase proteolytic subunit

NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,531...6,370,242

CLTC

clathrin heavy chain

NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,684...59,696,956

CLTCL1

clathrin heavy chain like 1

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719

CLTRN

collectrin, amino acid transport regulator

NCBI chr X:15,627,318...15,675,644
Ensembl chr X:15,627,318...15,675,012

CNKSR2

connector enhancer of kinase suppressor of Ras 2

NCBI chr X:21,374,418...21,654,689
Ensembl chr X:21,372,801...21,654,695

CNOT1

CCR4-NOT transcription complex subunit 1

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

COA3

cytochrome c oxidase assembly factor 3

NCBI chr17:42,797,625...42,798,704
Ensembl chr17:42,795,147...42,798,704

COG1

component of oligomeric golgi complex 1

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

COG4

component of oligomeric golgi complex 4

NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560

COG5

component of oligomeric golgi complex 5

NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261

COG7

component of oligomeric golgi complex 7

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

COL10A1

collagen type X alpha 1 chain

NCBI chr 6:116,118,909...116,217,129
Ensembl chr 6:116,118,909...116,158,747

COL11A1

collagen type XI alpha 1 chain

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

COL11A2

collagen type XI alpha 2 chain

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

COL1A1

collagen type I alpha 1 chain

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

COL1A2

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Short stature

PMID:28492532 PMID:30311386

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

COL27A1

collagen type XXVII alpha 1 chain

NCBI chr 9:114,154,098...114,312,511
Ensembl chr 9:114,155,537...114,312,511

COL2A1

collagen type II alpha 1 chain

PMID:25741868 PMID:21204228

ClinVar Annotator: match by term: Short stature
DNA:missense mutation:cds:p.P986L

HPO
ClinVar
RGD

RGD:8657353

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

COL3A1

collagen type III alpha 1 chain

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

COL5A1

collagen type V alpha 1 chain

NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843

COL6A2

collagen type VI alpha 2 chain

NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848

COL7A1

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Short stature

PMID:8037207 PMID:9881948 PMID:12787275 PMID:16971478 PMID:22266148 More...

NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329

COL9A1

collagen type IX alpha 1 chain

NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084

COL9A2

collagen type IX alpha 2 chain

NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813

COL9A3

collagen type IX alpha 3 chain

NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159

COLEC10

collectin subfamily member 10

NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455

COMT

catechol-O-methyltransferase

ClinVar Annotator: match by term: Short stature

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

COPB2

COPI coat complex subunit beta 2

NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736

COX4I1

cytochrome c oxidase subunit 4I1

NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068

COX7B

cytochrome c oxidase subunit 7B

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

COX8A

cytochrome c oxidase subunit 8A

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

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

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

CPLX1

complexin 1

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

CPZ

carboxypeptidase Z

ClinVar Annotator: match by term: Short stature

NCBI chr 4:8,592,765...8,619,752
Ensembl chr 4:8,592,660...8,619,759

CREB3L1

cAMP responsive element binding protein 3 like 1

NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409

CREBBP

CREB binding protein

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

CRKL

CRK like proto-oncogene, adaptor protein

ClinVar Annotator: match by term: Short stature

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

CRTAM

cytotoxic and regulatory T cell molecule

ClinVar Annotator: match by term: Short stature

NCBI chr11:122,838,500...122,872,643
Ensembl chr11:122,838,500...122,872,643

CRTAP

cartilage associated protein

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

CSGALNACT1

chondroitin sulfate N-acetylgalactosaminyltransferase 1

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

CSPP1

centrosome and spindle pole associated protein 1

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

CTBP1

C-terminal binding protein 1

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

CTC1

CST telomere replication complex component 1

NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058

CTCF

CCCTC-binding factor

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

CTDP1

CTD phosphatase subunit 1

NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503

CTNND2

catenin delta 2

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

CTNS

cystinosin, lysosomal cystine transporter

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

CTSK

cathepsin K

NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577

CUL4B

cullin 4B

ClinVar Annotator: match by term: Short stature

PMID:8135271 PMID:17236139 PMID:17273978 PMID:25741868

NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074

CUL7

cullin 7

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28492532

NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943

CUX1

cut like homeobox 1

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

CWC27

CWC27 spliceosome associated cyclophilin

NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412

CXCR5

C-X-C motif chemokine receptor 5

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,883,892...118,897,787
Ensembl chr11:118,883,892...118,897,787

CYB5A

cytochrome b5 type A

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

CYBC1

cytochrome b-245 chaperone 1

NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829

CYFIP2

cytoplasmic FMR1 interacting protein 2

NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595

CYP11B1

cytochrome P450 family 11 subfamily B member 1

NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846

CYP17A1

cytochrome P450 family 17 subfamily A member 1

NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472

CYP19A1

cytochrome P450 family 19 subfamily A member 1

NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601

CYP27B1

cytochrome P450 family 27 subfamily B member 1

NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986

CYP2R1

cytochrome P450 family 2 subfamily R member 1

NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231

CYP4F22

cytochrome P450 family 4 subfamily F member 22

NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317

DACT1

dishevelled binding antagonist of beta catenin 1

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

DALRD3

DALR anticodon binding domain containing 3

NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293

DCHS1

dachsous cadherin-related 1

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

DCPS

decapping enzyme, scavenger

ClinVar Annotator: match by term: Short stature

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

DDB2

damage specific DNA binding protein 2

NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217

DDHD2

DDHD domain containing 2

NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558

DDOST

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544

DDX25

DEAD-box helicase 25

ClinVar Annotator: match by term: Short stature

NCBI chr11:125,903,328...125,928,843
Ensembl chr11:125,903,348...125,943,702

DDX6

DEAD-box helicase 6

ClinVar Annotator: match by term: Short stature

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

DEAF1

DEAF1 transcription factor

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

DENND4B

DENN domain containing 4B

ClinVar Annotator: match by term: Short stature

NCBI chr 1:153,929,501...153,946,894
Ensembl chr 1:153,929,501...153,946,718

DGCR11

DiGeorge syndrome critical region gene 11

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,046,162...19,048,375
Ensembl chr22:19,046,162...19,048,375

DGCR2

DiGeorge syndrome critical region gene 2

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454

DGCR5

DiGeorge syndrome critical region gene 5

ClinVar Annotator: match by term: Short stature

NCBI chr22:18,970,468...19,031,242
Ensembl chr22:18,970,439...19,031,242

DGCR6

DiGeorge syndrome critical region gene 6

NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238

DGCR6L

DiGeorge syndrome critical region gene 6 like

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,314,238...20,320,060
Ensembl chr22:20,314,238...20,320,080

DGCR8

DGCR8 microprocessor complex subunit

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877

DHCR7

7-dehydrocholesterol reductase

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

DHDDS

dehydrodolichyl diphosphate synthase subunit

NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306

DHPS

deoxyhypusine synthase

NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880

DHX30

DExH-box helicase 30

ClinVar Annotator: match by term: Short stature
ClinVar Annotator: match by term: Stature below 3rd percentile

PMID:25741868 PMID:28327206 PMID:29100085

NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195

DHX34

DExH-box helicase 34

ClinVar Annotator: match by term: Short stature

PMID:31256877

NCBI chr19:47,349,315...47,382,704
Ensembl chr19:47,349,315...47,382,704

DIAPH1

diaphanous related formin 1

NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055

DISP1

dispatched RND transporter family member 1

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

DKC1

dyskerin pseudouridine synthase 1

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

DLK1

delta like non-canonical Notch ligand 1

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

DLL1

delta like canonical Notch ligand 1

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

DLL3

delta like canonical Notch ligand 3

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

DMD

dystrophin

ClinVar Annotator: match by term: Short stature

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

DMP1

dentin matrix acidic phosphoprotein 1

NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361

DMXL2

Dmx like 2

NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833

DNA2

DNA replication helicase/nuclease 2

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

DNAH17

dynein axonemal heavy chain 17

ClinVar Annotator: match by term: Short stature

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

DNAH17-AS1

DNAH17 antisense RNA 1

ClinVar Annotator: match by term: Short stature

NCBI chr17:78,484,910...78,503,056
Ensembl chr17:78,484,882...78,503,056

DNAJC21

DnaJ heat shock protein family (Hsp40) member C21

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

DNAJC3

DnaJ heat shock protein family (Hsp40) member C3

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

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

DNM1

dynamin 1

NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248

DNMT3B

DNA methyltransferase 3 beta

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

DOLK

dolichol kinase

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

DONSON

DNA replication fork stabilization factor DONSON

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28191891 PMID:28331220 PMID:28492532 PMID:31407851

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

DPAGT1

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331

DPF2

double PHD fingers 2

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

DPH1

diphthamide biosynthesis 1

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

DPH2

diphthamide biosynthesis 2

ClinVar Annotator: match by term: Short stature

PMID:32576952

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

DPH5

diphthamide biosynthesis 5

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

DPP6

dipeptidyl peptidase like 6

NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285

DPRX

divergent-paired related homeobox

ClinVar Annotator: match by term: Short stature

NCBI chr19:53,601,114...53,637,014
Ensembl chr19:53,631,999...53,637,014

DPYSL5

dihydropyrimidinase like 5

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

DSCAML1

DS cell adhesion molecule like 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,427,772...117,817,514
Ensembl chr11:117,427,772...117,817,525

DSTYK

dual serine/threonine and tyrosine protein kinase

NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702

DTYMK

deoxythymidylate kinase

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

DVL1

dishevelled segment polarity protein 1

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

DVL3

dishevelled segment polarity protein 3

ClinVar Annotator: match by term: Short stature

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

DYNC1I2

dynein cytoplasmic 1 intermediate chain 2

NCBI chr 2:171,687,469...171,750,158
Ensembl chr 2:171,687,409...171,750,158

DYNC2H1

dynein cytoplasmic 2 heavy chain 1

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

DYNC2I1

dynein 2 intermediate chain 1

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

DYNC2I2

dynein 2 intermediate chain 2

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

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

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

DYNLT2B

dynein light chain Tctex-type 2B

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

DYRK1A

dual specificity tyrosine phosphorylation regulated kinase 1A

NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358

EBF3

EBF transcription factor 3

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

EBP

EBP cholestenol delta-isomerase

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

ECE1

endothelin converting enzyme 1

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

ECEL1

endothelin converting enzyme like 1

NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834

EDEM3

ER degradation enhancing alpha-mannosidase like protein 3

ClinVar Annotator: match by term: Short stature

NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907

EDN3

endothelin 3

NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992

EDNRB

endothelin receptor type B

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

EEF1A2

eukaryotic translation elongation factor 1 alpha 2

NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239

EFL1

elongation factor like GTPase 1

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

EFNB1

ephrin B1

NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160

EFTUD2

elongation factor Tu GTP binding domain containing 2

DNA:mutations:multiple

HPO
RGD

PMID:22305528

RGD:10045557

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

EHHADH

enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990

EHMT1

euchromatic histone lysine methyltransferase 1

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

EI24

EI24 autophagy associated transmembrane protein

ClinVar Annotator: match by term: Short stature

NCBI chr11:125,569,477...125,584,684
Ensembl chr11:125,569,280...125,584,684

EIF2AK3

eukaryotic translation initiation factor 2 alpha kinase 3

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

EIF3F

eukaryotic translation initiation factor 3 subunit F

NCBI chr11:7,987,337...8,001,852
Ensembl chr11:7,970,251...8,001,862

EIF4A3

eukaryotic translation initiation factor 4A3

NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151

EIF4H

eukaryotic translation initiation factor 4H

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

ELN

elastin

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

ELP2

elongator acetyltransferase complex subunit 2

NCBI chr18:36,129,899...36,180,557
Ensembl chr18:36,129,444...36,180,557

EMG1

EMG1 N1-specific pseudouridine methyltransferase

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

ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

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

EP300

E1A binding protein p300

ClinVar Annotator: match by term: Short stature

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

EPG5

ectopic P-granules 5 autophagy tethering factor

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

ERBB2

erb-b2 receptor tyrosine kinase 2

NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426

ERBB3

erb-b2 receptor tyrosine kinase 3

NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

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

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

ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit

NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

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

ERCC5

ERCC excision repair 5, endonuclease

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

ERCC6

ERCC excision repair 6, chromatin remodeling factor

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

ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073

ERF

ETS2 repressor factor

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

ESAM

endothelial cell adhesion molecule

ClinVar Annotator: match by term: Short stature

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

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

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

ESS2

ess-2 splicing factor homolog

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684

ETS1

ETS proto-oncogene 1, transcription factor

ClinVar Annotator: match by term: Short stature

NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558

EVC

EvC ciliary complex subunit 1

DNA:mutation:exon:c.1678G>T(human)

RGD

PMID:29229899

RGD:155260290

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

EXOC6B

exocyst complex component 6B

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

EXOSC2

exosome component 2

NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288

EXOSC5

exosome component 5

NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362

EXT1

exostosin glycosyltransferase 1

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

EXT2

exostosin glycosyltransferase 2

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

EYA1

EYA transcriptional coactivator and phosphatase 1

NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025

FAM111A

FAM111 trypsin like peptidase A

ClinVar Annotator: match by term: Short stature

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

FAM111B

FAM111 trypsin like peptidase B

ClinVar Annotator: match by term: Short stature

NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412

FAM118B

family with sequence similarity 118 member B

ClinVar Annotator: match by term: Short stature

NCBI chr11:126,211,724...126,262,987
Ensembl chr11:126,211,724...126,262,984

FAM149B1

family with sequence similarity 149 member B1

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

FAM20C

FAM20C golgi associated secretory pathway kinase

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

FAM230G

family with sequence similarity 230 member G

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,338,030...20,352,496
Ensembl chr22:20,338,805...20,354,372

FAM246C

family with sequence similarity 246 member C (gene/pseudogene)

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,029,524...19,030,221
Ensembl chr22:19,029,524...19,031,242

FAM50A

family with sequence similarity 50 member A

NCBI chr X:154,444,141...154,450,654
Ensembl chr X:154,444,141...154,450,654

FANCA

FA complementation group A

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

FANCB

FA complementation group B

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

FANCC

FA complementation group C

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

FANCD2

FA complementation group D2

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

FANCE

FA complementation group E

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

FANCF

FA complementation group F

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

FANCG

FA complementation group G

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

FANCI

FA complementation group I

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

FANCL

FA complementation group L

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

FANCM

FA complementation group M

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

FAR1

fatty acyl-CoA reductase 1

NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,668...13,732,346

FARSA

phenylalanyl-tRNA synthetase subunit alpha

NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037

FARSB

phenylalanyl-tRNA synthetase subunit beta

NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092

FAS

Fas cell surface death receptor

NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605

FAT4

FAT atypical cadherin 4

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

FBN1

fibrillin 1

ClinVar Annotator: match by term: Short stature

PMID:21683322 PMID:25741868 PMID:27245183 PMID:28492532

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

FBRS

fibrosin

ClinVar Annotator: match by term: Short stature

NCBI chr16:30,658,431...30,670,810
Ensembl chr16:30,658,431...30,670,810

FBXL3

F-box and leucine rich repeat protein 3

NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195

FBXO11

F-box protein 11

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

FEZ1

fasciculation and elongation protein zeta 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:125,442,881...125,496,265
Ensembl chr11:125,442,881...125,592,568

FGD1

FYVE, RhoGEF and PH domain containing 1

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

FGF12

fibroblast growth factor 12

NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764

FGF13

fibroblast growth factor 13

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

FGF18

fibroblast growth factor 18

ClinVar Annotator: match by term: Short stature

NCBI chr 5:171,419,647...171,457,626
Ensembl chr 5:171,419,647...171,457,626

FGF23

fibroblast growth factor 23

NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712

FGF8

fibroblast growth factor 8

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

FGFR1

fibroblast growth factor receptor 1

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

FGFR2

fibroblast growth factor receptor 2

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

FGFR3

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Short stature

PMID:1908846 PMID:7670477 PMID:7773297 PMID:8589686 PMID:8858131 More...

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

FGFRL1

fibroblast growth factor receptor like 1

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

FIG4

FIG4 phosphoinositide 5-phosphatase

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

FKBP10

FKBP prolyl isomerase 10

ClinVar Annotator: match by term: Short stature

PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More...

NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213

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

FLCN

folliculin

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

FLI1

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Short stature

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

FLII

FLII actin remodeling protein

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

FLNA

filamin A

ClinVar Annotator: match by term: Short stature

PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15917206 More...

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

FLNB

filamin B

ClinVar Annotator: match by term: Short stature

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

FMR1

fragile X messenger ribonucleoprotein 1

NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125

FN1

fibronectin 1

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

FOXE1

forkhead box E1

NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717

FOXH1

forkhead box H1

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

FOXP4

forkhead box P4

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28492532

NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384

FOXR1

forkhead box R1

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,971,761...118,981,287
Ensembl chr11:118,971,712...118,981,287

FOXRED1

FAD dependent oxidoreductase domain containing 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131

FRA10AC1

FRA10A associated CGG repeat 1

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

FSHR

follicle stimulating hormone receptor

NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527

FUCA1

alpha-L-fucosidase 1

NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290

FUT8

fucosyltransferase 8

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

FXR1

FMR1 autosomal homolog 1

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

FXYD2

FXYD domain containing ion transport regulator 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698

FXYD6

FXYD domain containing ion transport regulator 6

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,836,981...117,877,430
Ensembl chr11:117,836,976...117,877,486

FXYD6-FXYD2

FXYD6-FXYD2 readthrough

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,820,057...117,876,658
Ensembl chr11:117,820,163...117,876,667

FZD2

frizzled class receptor 2

ClinVar Annotator: match by term: Short stature

NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262

FZR1

fizzy and cell division cycle 20 related 1

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

G6PC1

glucose-6-phosphatase catalytic subunit 1

ClinVar Annotator: match by term: Short stature

PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 More...

NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438

GABBR2

gamma-aminobutyric acid type B receptor subunit 2

NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935

GABRA2

gamma-aminobutyric acid type A receptor subunit alpha2

NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230

GABRA5

gamma-aminobutyric acid type A receptor subunit alpha5

NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208

GABRB2

gamma-aminobutyric acid type A receptor subunit beta2

NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044

GABRD

gamma-aminobutyric acid type A receptor subunit delta

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

GABRE

gamma-aminobutyric acid type A receptor subunit epsilon

ClinVar Annotator: match by term: Short stature

NCBI chr X:151,953,124...151,974,676
Ensembl chr X:151,953,124...151,974,680

GABRG2

gamma-aminobutyric acid type A receptor subunit gamma2

NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977

GALNT2

polypeptide N-acetylgalactosaminyltransferase 2

NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,122

GARS1

glycyl-tRNA synthetase 1

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

GAS1

growth arrest specific 1

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

GATA1

GATA binding protein 1

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

GATA4

GATA binding protein 4

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

GATM

glycine amidinotransferase

NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327

GBA1

glucosylceramidase beta 1

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

GDF5

growth differentiation factor 5

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

GDNF

glial cell derived neurotrophic factor

NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041

GGPS1

geranylgeranyl diphosphate synthase 1

NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532

GH1

growth hormone 1

short stature, idiopathic, autosomal,OMIM:604271;DNA:point mutation:exon:C53S

HPO
RGD

PMID:15713716

RGD:1601312

NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839

GHR

growth hormone receptor

PMID:10984309 PMID:25741868 PMID:28492532 PMID:7565946

DNA:missense mutations:cds:
ClinVar Annotator: match by term: Short stature

ClinVar
HPO
RGD

RGD:1601316

NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878

GHSR

growth hormone secretagogue receptor

DNA:mutation:cds:p.A204E(human)

HPO
RGD

PMID:16511605

RGD:1625252

NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456

GINS1

GINS complex subunit 1

NCBI chr20:25,407,673...25,448,563
Ensembl chr20:25,391,008...25,452,700

GJA1

gap junction protein alpha 1

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

GJB3

gap junction protein beta 3

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

GJB4

gap junction protein beta 4

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

GJB6

gap junction protein beta 6

NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365

glycerol kinase

NCBI chr X:30,653,423...30,731,462
Ensembl chr X:30,653,359...30,731,462

GLA

galactosidase alpha

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

GLB1

galactosidase beta 1

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

GLE1

GLE1 RNA export mediator

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

GLI1

GLI family zinc finger 1

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

GLI2

GLI family zinc finger 2

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

GLI3

GLI family zinc finger 3

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

GM2A

ganglioside GM2 activator

NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440

GMPPA

GDP-mannose pyrophosphorylase A

NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898

GNAS

GNAS complex locus

ClinVar Annotator: match by term: Short stature

PMID:11784876 PMID:12970262 PMID:21525160 PMID:23281139 PMID:23796510 More...

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

GNB1L

G protein subunit beta 1 like

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,783,223...19,854,874
Ensembl chr22:19,783,223...19,854,939

GNPTAB

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

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

GNPTG

N-acetylglucosamine-1-phosphate transferase subunit gamma

NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737

GNS

glucosamine (N-acetyl)-6-sulfatase

NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431

GOT2

glutamic-oxaloacetic transaminase 2

NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342

GP1BB

glycoprotein Ib platelet subunit beta

ClinVar Annotator: match by term: Short stature

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

GPC4

glypican 4

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

GPC6

glypican 6

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

GPD1

glycerol-3-phosphate dehydrogenase 1

NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313

GPR161

G protein-coupled receptor 161

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

GRAMD1B

GRAM domain containing 1B

ClinVar Annotator: match by term: Short stature

NCBI chr11:123,358,422...123,627,767
Ensembl chr11:123,358,428...123,627,774

GREB1L

GREB1 like retinoic acid receptor coactivator

ClinVar Annotator: match by term: Short stature

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

GRHL2

grainyhead like transcription factor 2

NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726

GRIA3

glutamate ionotropic receptor AMPA type subunit 3

NCBI chr X:123,184,278...123,490,915
Ensembl chr X:123,184,153...123,490,915

GRIA4

glutamate ionotropic receptor AMPA type subunit 4

NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090

GRIK4

glutamate ionotropic receptor kainate type subunit 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,511,748...120,988,906
Ensembl chr11:120,511,746...120,988,906

GRIN1

glutamate ionotropic receptor NMDA type subunit 1

NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756

GRIN2A

glutamate ionotropic receptor NMDA type subunit 2A

NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928

GRIN2D

glutamate ionotropic receptor NMDA type subunit 2D

NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931

GRM1

glutamate metabotropic receptor 1

NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601

GRM7

glutamate metabotropic receptor 7

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

GSC

goosecoid homeobox

NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113

GSC2

goosecoid homeobox 2

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,146,993...19,150,292
Ensembl chr22:19,146,993...19,150,292

GTF2E2

general transcription factor IIE subunit 2

NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236

GTF2H5

general transcription factor IIH subunit 5

NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344

GTF2I

general transcription factor IIi

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

GTF2IRD1

GTF2I repeat domain containing 1

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

GTF2IRD2

GTF2I repeat domain containing 2

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

GUSB

glucuronidase beta

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

GYS2

glycogen synthase 2

NCBI chr12:21,532,577...21,604,847
Ensembl chr12:21,536,107...21,604,847

GZF1

GDNF inducible zinc finger protein 1

NCBI chr20:23,361,127...23,373,062
Ensembl chr20:23,362,182...23,373,062

H19

H19 imprinted maternally expressed transcript

NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,001,470

H2AP

H2A.P histone

ClinVar Annotator: match by term: Short stature

NCBI chr X:37,990,779...37,991,314
Ensembl chr X:37,990,779...37,991,314

H2AX

H2A.X variant histone

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,874...119,095,465

H3-3A

H3.3 histone A

ClinVar Annotator: match by term: Short stature

PMID:21636898 PMID:25741868 PMID:33268356 PMID:34876591

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

H3-3B

H3.3 histone B

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:33268356 PMID:34876591

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

H4C11

H4 clustered histone 11

NCBI chr 6:27,824,092...27,824,480
Ensembl chr 6:27,824,092...27,824,480

H4C5

H4 clustered histone 5

NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021

HAAO

3-hydroxyanthranilate 3,4-dioxygenase

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

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

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

HBA1

hemoglobin subunit alpha 1

NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522

HBA2

hemoglobin subunit alpha 2

NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710

HCCS

holocytochrome c synthase

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

HCFC1

host cell factor C1

NCBI chr X:153,947,557...153,971,818
Ensembl chr X:153,947,557...153,971,818

HCN1

hyperpolarization activated cyclic nucleotide gated potassium channel 1

NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498

HDAC4

histone deacetylase 4

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

HDAC6

histone deacetylase 6

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

HDAC8

histone deacetylase 8

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

HEATR3

HEAT repeat containing 3

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

HELLS

helicase, lymphoid specific

NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905

HEPACAM

hepatic and glial cell adhesion molecule

ClinVar Annotator: match by term: Short stature

NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412

HEPN1

hepatocellular carcinoma, down-regulated 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:124,919,250...124,920,677
Ensembl chr11:124,919,250...124,920,677

HERC2

HECT and RLD domain containing E3 ubiquitin protein ligase 2

NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179

HES7

hes family bHLH transcription factor 7

ClinVar Annotator: match by term: Short stature

NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106

HESX1

HESX homeobox 1

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

HINFP

histone H4 transcription factor

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,121,580...119,136,059
Ensembl chr11:119,121,580...119,136,059

HIRA

histone cell cycle regulator

ClinVar Annotator: match by term: Short stature

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

HK1

hexokinase 1

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

HKDC1

hexokinase domain containing 1

ClinVar Annotator: match by term: Short stature

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

HLA-DQA1

major histocompatibility complex, class II, DQ alpha 1

NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062

HLA-DQB1

major histocompatibility complex, class II, DQ beta 1

NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383

HMBS

hydroxymethylbilane synthase

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834

HMGA2

high mobility group AT-hook 2

NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291

HMGB3

high mobility group box 3

NCBI chr X:150,980,507...150,990,771
Ensembl chr X:150,980,509...150,990,771

HNF1B

HNF1 homeobox B

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

HNF4A

hepatocyte nuclear factor 4 alpha

NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845

HNRNPA1

heterogeneous nuclear ribonucleoprotein A1

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

HNRNPA2B1

heterogeneous nuclear ribonucleoprotein A2/B1

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

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1

NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784

HNRNPH2

heterogeneous nuclear ribonucleoprotein H2

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

HNRNPU

heterogeneous nuclear ribonucleoprotein U

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

HOOK3

hook microtubule tethering protein 3

ClinVar Annotator: match by term: Short stature

NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535

HOXD13

homeobox D13

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

HPRT1

hypoxanthine phosphoribosyltransferase 1

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

HRAS

HRas proto-oncogene, GTPase

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

HSD11B2

hydroxysteroid 11-beta dehydrogenase 2

NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553

HSD17B4

hydroxysteroid 17-beta dehydrogenase 4

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

HSPA8

heat shock protein family A (Hsp70) member 8

ClinVar Annotator: match by term: Short stature

NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230

HSPG2

heparan sulfate proteoglycan 2

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

HUWE1

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752

HYAL1

hyaluronidase 1

NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381

HYLS1

HYLS1 centriolar and ciliogenesis associated

ClinVar Annotator: match by term: Short stature

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

HYOU1

hypoxia up-regulated 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227

IARS2

isoleucyl-tRNA synthetase 2, mitochondrial

NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041

IDH1

isocitrate dehydrogenase (NADP(+)) 1

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

IDH2

isocitrate dehydrogenase (NADP(+)) 2

NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477

IDS

iduronate 2-sulfatase

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

IDUA

alpha-L-iduronidase

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

IFIH1

interferon induced with helicase C domain 1

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

IFITM5

interferon induced transmembrane protein 5

NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526

IFT140

intraflagellar transport 140

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

IFT172

intraflagellar transport 172

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

IFT27

intraflagellar transport 27

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

IFT43

intraflagellar transport 43

NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585

IFT46

intraflagellar transport 46

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,544,543...118,576,898
Ensembl chr11:118,544,528...118,572,970

IFT52

intraflagellar transport 52

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

IFT56

intraflagellar transport 56

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

IFT57

intraflagellar transport 57

NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435

IFT74

intraflagellar transport 74

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

IFT80

intraflagellar transport 80

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

IFT81

intraflagellar transport 81

ClinVar Annotator: match by term: Short stature

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

IGBP1

immunoglobulin binding protein 1

NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324

IGF1

insulin like growth factor 1

NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744

IGF1R

insulin like growth factor 1 receptor

ClinVar Annotator: match by term: Short stature

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

IGF2

insulin like growth factor 2

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

IHH

Indian hedgehog signaling molecule

NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921

IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046

IL10RA

interleukin 10 receptor subunit alpha

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037

IL11RA

interleukin 11 receptor subunit alpha

NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902

IL6ST

interleukin 6 cytokine family signal transducer

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

INPP5K

inositol polyphosphate-5-phosphatase K

NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742

INSR

insulin receptor

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

INTS1

integrator complex subunit 1

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

INTS8

integrator complex subunit 8

NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746

INTU

inturned planar cell polarity protein

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

INVS

inversin

NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175

IPO8

importin 8

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

IPW

imprinted in Prader-Willi syndrome

NCBI chr15:25,116,545...25,122,476

IQCB1

IQ motif containing B1

NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079

IQSEC1

IQ motif and Sec7 domain ArfGEF 1

NCBI chr 3:12,897,043...13,283,257
Ensembl chr 3:12,897,043...13,283,281

IQSEC2

IQ motif and Sec7 domain ArfGEF 2

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

IRS4

insulin receptor substrate 4

NCBI chr X:108,719,946...108,736,563
Ensembl chr X:108,719,946...108,736,563

ITCH

itchy E3 ubiquitin protein ligase

NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773

ITGB6

integrin subunit beta 6

NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,200,313

ITIH6

inter-alpha-trypsin inhibitor heavy chain family member 6

ClinVar Annotator: match by term: Short stature

NCBI chr X:54,748,918...54,798,255
Ensembl chr X:54,748,918...54,798,255

JAGN1

jagunal homolog 1

NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349

JAK1

Janus kinase 1

NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754

JAML

junction adhesion molecule like

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,193,725...118,225,011
Ensembl chr11:118,193,725...118,225,094

JHY

junctional cadherin complex regulator

ClinVar Annotator: match by term: Short stature

NCBI chr11:122,882,759...122,963,862
Ensembl chr11:122,882,683...122,963,862

JMJD1C

jumonji domain containing 1C

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

KANSL1

KAT8 regulatory NSL complex subunit 1

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

KAT6A

lysine acetyltransferase 6A

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

KAT6B

lysine acetyltransferase 6B

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

KATNIP

katanin interacting protein

NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344

KCNA2

potassium voltage-gated channel subfamily A member 2

NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474

KCNA4

potassium voltage-gated channel subfamily A member 4

NCBI chr11:30,009,730...30,017,030
Ensembl chr11:30,009,730...30,017,030

KCNAB2

potassium voltage-gated channel subfamily A regulatory beta subunit 2

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

KCNB1

potassium voltage-gated channel subfamily B member 1

NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297

KCNC3

potassium voltage-gated channel subfamily C member 3

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

KCND1

potassium voltage-gated channel subfamily D member 1

ClinVar Annotator: match by term: Short stature

NCBI chr X:48,961,380...48,971,844
Ensembl chr X:48,961,378...48,971,844

KCNH1

potassium voltage-gated channel subfamily H member 1

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

KCNJ1

potassium inwardly rectifying channel subfamily J member 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373

KCNJ10

potassium inwardly rectifying channel subfamily J member 10

NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160

KCNJ2

potassium inwardly rectifying channel subfamily J member 2

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

KCNJ5

potassium inwardly rectifying channel subfamily J member 5

ClinVar Annotator: match by term: Short stature

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

KCNJ5-AS1

KCNJ5 antisense RNA 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:128,899,565...128,906,231
Ensembl chr11:128,899,565...128,906,044

KCNMA1

potassium calcium-activated channel subfamily M alpha 1

NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369

KCTD1

potassium channel tetramerization domain containing 1

NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401

KDM1A

lysine demethylase 1A

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

KDM3B

lysine demethylase 3B

NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028

KDM5C

lysine demethylase 5C

NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,283...53,225,422

KDM6A

lysine demethylase 6A

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

KDSR

3-ketodihydrosphingosine reductase

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

KIAA0586

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

KIAA0753

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

KIF14

kinesin family member 14

NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751

KIF15

kinesin family member 15

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

KIF1A

kinesin family member 1A

NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293

KIF1C

kinesin family member 1C

NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401

KIF22

kinesin family member 22

NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385

KIF23

kinesin family member 23

NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427

KIF7

kinesin family member 7

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

KIFBP

kinesin family binding protein

NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544

KIRREL3

kirre like nephrin family adhesion molecule 3

ClinVar Annotator: match by term: Short stature

NCBI chr11:126,423,358...127,000,870
Ensembl chr11:126,423,358...127,003,460

KISS1R

KISS1 receptor

NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005

KLF1

KLF transcription factor 1

NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201

KLHL22

kelch like family member 22

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,441,519...20,495,795
Ensembl chr22:20,441,519...20,495,844

KLLN

killin, p53 regulated DNA replication inhibitor

NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533

KMT2A

lysine methyltransferase 2A

ClinVar Annotator: match by term: Short stature

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

KMT2B

lysine methyltransferase 2B

NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880

KMT2C

lysine methyltransferase 2C

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

KMT2D

lysine methyltransferase 2D

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

KNL1

kinetochore scaffold 1

NCBI chr15:40,594,249...40,664,342
Ensembl chr15:40,594,020...40,664,342

KRAS

KRAS proto-oncogene, GTPase

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

KRT10

keratin 10

NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614

KYNU

kynureninase

NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833

L1CAM

L1 cell adhesion molecule

NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173

LAGE3

L antigen family member 3

NCBI chr X:154,477,775...154,479,281
Ensembl chr X:154,477,775...154,479,281

LAMA5

laminin subunit alpha 5

ClinVar Annotator: match by term: Short stature

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

LAMTOR2

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

NCBI chr 1:156,054,782...156,058,506
Ensembl chr 1:156,054,782...156,058,506

LARGE1

LARGE xylosyl- and glucuronyltransferase 1

NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841

LAS1L

LAS1 like ribosome biogenesis factor

NCBI chr X:65,512,582...65,534,787
Ensembl chr X:65,438,549...65,534,810

LEMD2

LEM domain nuclear envelope protein 2

ClinVar Annotator: match by term: Stature below 3rd percentile

PMID:25741868 PMID:30905398

NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130

LEMD3

LEM domain containing 3

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

LEPR

leptin receptor

NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

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

LFNG

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177

LGI3

leucine rich repeat LGI family member 3

NCBI chr 8:22,146,830...22,156,806
Ensembl chr 8:22,146,830...22,157,084

LHX1

LIM homeobox 1

NCBI chr17:36,936,785...36,944,612
Ensembl chr17:36,936,785...36,944,612

LHX3

LIM homeobox 3

NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128

LHX4

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

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

LIG4

DNA ligase 4

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

LIMK1

LIM domain kinase 1

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

LINC00895

long intergenic non-protein coding RNA 895

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,566,130...19,566,839
Ensembl chr22:19,565,203...19,566,839

LINC00896

long intergenic non-protein coding RNA 896

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,206,332...20,208,537
Ensembl chr22:20,206,380...20,208,524

LINC01311

long intergenic non-protein coding RNA 1311

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,171,706...19,172,832
Ensembl chr22:19,171,395...19,172,851

LINC01637

long intergenic non-protein coding RNA 1637

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,957,092...20,964,680
Ensembl chr22:20,957,092...20,964,682

LINC02873

long intergenic non-protein coding RNA 2873

ClinVar Annotator: match by term: Short stature

NCBI chr11:130,672,956...130,717,352
Ensembl chr11:130,672,956...130,717,352

LINC02891

long intergenic non-protein coding RNA 2891

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,198,729...20,204,918
Ensembl chr22:20,198,729...20,204,918

LIPN

lipase family member N

NCBI chr10:88,757,226...88,779,626
Ensembl chr10:88,759,982...88,779,626

LMBR1

limb development membrane protein 1

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

LMBRD1

LMBR1 domain containing 1

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

LMNA

lamin A/C

ClinVar Annotator: match by term: Short stature

PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 More...

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

LMNB1

lamin B1

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

LMX1B

LIM homeobox transcription factor 1 beta

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

LOC108510655

enhancer-blocking element 22-3 upstream of CCDC188

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,157,040...20,157,277

LOC110120888

VISTA enhancer hs515

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,761,833...19,762,532

LOC110121413

VISTA enhancer hs1620

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,420,771...20,424,717

LOC112694764

Sharpr-MPRA regulatory region 10527

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,947,746...19,948,040

LOC112694766

Sharpr-MPRA regulatory region 2516

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,951,646...19,951,940

LOC112694767

Sharpr-MPRA regulatory region 818

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,979,400...20,979,694

LOC114004361

Sharpr-MPRA regulatory region 11686

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,155,386...20,155,680

LOC116309126

CRISPRi-validated cis-regulatory element chr22.250

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,627,502...19,627,582

LOC116309127

CRISPRi-validated cis-regulatory element chr22.431

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,187,977...20,188,680

LOC121627929

Sharpr-MPRA regulatory region 13949

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,730,626...19,730,920

LOC121627930

Sharpr-MPRA regulatory region 10582

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,777,801...20,778,095

LOC121627931

Sharpr-MPRA regulatory region 10319

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,867,421...20,868,107

LOC122056818

Sharpr-MPRA regulatory region 8387

ClinVar Annotator: match by term: Short stature

NCBI chr 1:29,324,962...29,325,991

LOC123620094

Sharpr-MPRA regulatory region 1078

ClinVar Annotator: match by term: Short stature

NCBI chr 6:35,238,812...35,239,106

LOC125424386

Sharpr-MPRA regulatory region 15144

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,619,686...19,619,980

LOC125424387

Sharpr-MPRA regulatory region 11316

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,238,546...20,238,840

LOC125424388

Sharpr-MPRA regulatory region 9836

ClinVar Annotator: match by term: Short stature

NCBI chr22:20,319,406...20,319,700

LOC126805641

BRD4-independent group 4 enhancer GRCh37_chr1:19446050-19447249

ClinVar Annotator: match by term: Short stature

NCBI chr 1:19,119,556...19,120,755

LOC126805726

CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554

ClinVar Annotator: match by term: Short stature

PMID:32576952

NCBI chr 1:43,971,353...43,972,882

LOC126859661

CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:35211069-35212268

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:33308444

NCBI chr 6:35,243,292...35,244,491

LOC126860950

MED14-independent group 3 enhancer GRCh37_chr10:70991590-70992789

ClinVar Annotator: match by term: Short stature

NCBI chr10:69,231,834...69,233,372

LOC126862485

CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197

ClinVar Annotator: match by term: Short stature

NCBI chr17:8,117,680...8,118,879

LOC126863097

BRD4-independent group 4 enhancer GRCh37_chr22:19220751-19221950

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,233,228...19,234,427

LOC126863098

BRD4-independent group 4 enhancer GRCh37_chr22:19894389-19895588

ClinVar Annotator: match by term: Short stature

NCBI chr22:19,906,866...19,908,065

LONP1

lon peptidase 1, mitochondrial

ClinVar Annotator: match by term: Short stature

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

LOXL3

lysyl oxidase like 3

NCBI chr 2:74,532,258...74,555,702
Ensembl chr 2:74,532,258...74,555,690

LRP5

LDL receptor related protein 5

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

LRP6

LDL receptor related protein 6

ClinVar Annotator: match by term: Short stature

NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044

LRRC74B

leucine rich repeat containing 74B

ClinVar Annotator: match by term: Short stature

NCBI chr22:21,045,946...21,064,168
Ensembl chr22:21,045,946...21,064,168

LSM11

LSM11, U7 small nuclear RNA associated

NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709

LSS

lanosterol synthase

NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824

LTBP1

latent transforming growth factor beta binding protein 1

NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509

LTBP2

latent transforming growth factor beta binding protein 2

DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856)

HPO
RGD

PMID:22539340

RGD:243049250

NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378

LTBP3

latent transforming growth factor beta binding protein 3

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

LUZP1

leucine zipper protein 1

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

LZTFL1

leucine zipper transcription factor like 1

NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042

LZTR1

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Short stature
DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human)

HPO
ClinVar
RGD

PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More...

RGD:151708718

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

MACF1

microtubule actin crosslinking factor 1

ClinVar Annotator: match by term: Short stature

NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177

MAD2L2

mitotic arrest deficient 2 like 2

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811

MADD

MAP kinase activating death domain