Dwarfism - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Dwarfism	go back to main search page
Accession:	DOID:9007661	browse the term
Definition:	A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Synonyms:	exact_synonym:	Nanism; short stature
	narrow_synonym:	DISPROPORTIONATE SHORT STATURE; SD2; Skeletal dysplasia 2
	primary_id:	MESH:D004392
	alt_id:	OMIA:001772
	xref:	HP:0004322

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Rat (877) Mouse (875) Human (17899) Chinchilla (796) Bonobo (865) Dog (860) Squirrel (824) Pig (856) Green Monkey (831) Naked Mole-rat (799) All
Genes (865)

Dwarfism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870

G

ATP binding cassette subfamily G member 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,987,709...114,001,354
Ensembl chr11:117,916,043...117,929,636

G

aggrecan

DNA:frameshift mutation:exon:c.5391delG (human)
protein:decreased expression:cartilage
DNA:frameshift mutation, missense mutation, splice-site mutation:exon:c.272delA, c.2026+1G>A, c.7064T>C (p.L2355P) (human)
mRNA:decreased expression:costal cartilage
protein:altered localization:cartilage

PMID:9192671 PMID:9988279 PMID:18678883 PMID:24762113 PMID:25736479 More...

RGD:11061419 RGD:11570526 RGD:11570531 RGD:11570533 RGD:1300269 RGD:734826

NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420

G

acrosomal vesicle protein 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,493,328...120,502,632
Ensembl chr11:124,406,467...124,415,043

G

actin beta

ClinVar Annotator: match by term: Short stature

G

ADAM metallopeptidase with thrombospondin type 1 motif 15

ClinVar Annotator: match by term: Short stature

NCBI chr11:125,264,129...125,291,655
Ensembl chr11:129,154,895...129,182,326

G

ADAM metallopeptidase with thrombospondin type 1 motif 8

ClinVar Annotator: match by term: Short stature

NCBI chr11:125,220,258...125,244,841
Ensembl chr11:129,112,176...129,136,928

G

adhesion G protein-coupled receptor B3

ClinVar Annotator: match by term: Short stature

NCBI chr 6:66,484,739...67,238,607
Ensembl chr 6:69,788,604...70,536,820

G

ALF transcription elongation factor 2

ClinVar Annotator: match by term: Short stature

NCBI chr X:137,524,106...138,015,114
Ensembl chr X:147,951,022...148,436,935

G

ALG12 alpha-1,6-mannosyltransferase

ClinVar Annotator: match by term: Short stature

NCBI chr22:30,110,873...30,139,359
Ensembl chr22:49,126,234...49,136,740

G

arachidonate epidermal lipoxygenase 3

ClinVar Annotator: match by term: Disproportionate short stature

NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941

G

AMMECR nuclear protein 1

ClinVar Annotator: match by term: Short stature

NCBI chr X:99,302,263...99,548,046
Ensembl chr X:109,776,789...109,896,297

G

angiopoietin 2

ClinVar Annotator: match by term: Short stature

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

NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

G

ankyrin repeat and sterile alpha motif domain containing 3

ClinVar Annotator: match by term: Short stature

NCBI chr16:3,621,185...3,659,570
Ensembl chr16:4,788,093...4,820,760

G

amyloid beta precursor like protein 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:124,881,191...124,944,472
Ensembl chr11:128,775,329...128,847,482

G

apolipoprotein A1

ClinVar Annotator: match by term: Short stature

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

apolipoprotein A4

ClinVar Annotator: match by term: Short stature

NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382

G

apolipoprotein A5

ClinVar Annotator: match by term: Short stature

NCBI chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286

G

apolipoprotein C3

ClinVar Annotator: match by term: Short stature

NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460

G

archain 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589

G

Rho GTPase activating protein 32

ClinVar Annotator: match by term: Short stature

NCBI chr11:123,780,028...124,096,494
Ensembl chr11:127,684,622...127,909,822

G

Rho guanine nucleotide exchange factor 12

ClinVar Annotator: match by term: Short stature

NCBI chr11:115,173,575...115,327,040
Ensembl chr11:119,098,903...119,251,522

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Short stature

NCBI chr 6:154,581,148...155,018,706

G

ATP synthase membrane subunit g

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,236,010...113,243,661
Ensembl chr11:117,167,404...117,200,030

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Short stature

NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486

G

beta-secretase 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,120,950...112,151,505
Ensembl chr11:116,054,303...116,084,812

G

BARX homeobox 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:124,187,026...124,264,154
Ensembl chr11:128,086,409...128,162,833

G

BCL9 like

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,735,852...113,765,811
Ensembl chr11:117,666,995...117,678,598

G

BH3-like motif containing, cell death inducer

ClinVar Annotator: match by term: Short stature

NCBI chr11:116,866,177...116,939,860

G

bromodomain containing 4

ClinVar Annotator: match by term: Short stature

NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600

G

brain specific homeobox

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,807,856...117,815,571
Ensembl chr11:121,731,049...121,735,101

G

BUD13 homolog

ClinVar Annotator: match by term: Short stature

NCBI chr11:111,583,588...111,610,703
Ensembl chr11:115,517,647...115,545,098

G

C1q and TNF related 5

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774

G

C2CD2 like

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,944,939...113,955,296
Ensembl chr11:117,875,077...117,883,581

G

cell adhesion molecule 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324

G

calcium activated nucleotidase 1

ClinVar Annotator: match by term: Short stature

NCBI chr17:73,068,196...73,086,900
Ensembl chr17:78,614,244...78,618,317

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

G

coiled-coil domain containing 120

ClinVar Annotator: match by term: Short stature

NCBI chr X:41,341,834...41,367,761
Ensembl chr X:49,207,391...49,223,552

G

coiled-coil domain containing 15

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,781,702...119,872,629
Ensembl chr11:123,696,718...123,782,549

G

cellular communication network factor 2

NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077

G

cell adhesion associated, oncogene regulated

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091

G

centrosomal AT-AC splicing factor

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,836,400...113,853,928
Ensembl chr11:117,766,526...117,784,125

G

centrosomal protein 164

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,157,774...112,249,004
Ensembl chr11:116,106,847...116,180,516

G

centrosomal protein 76

ClinVar Annotator: match by term: Short stature

NCBI chr18:1,620,954...1,650,498
Ensembl chr18:16,735,827...16,765,269

G

chromodomain helicase DNA binding protein 1 like

ClinVar Annotator: match by term: Short stature

NCBI chr 1:122,595,246...122,720,788
Ensembl chr 1:112,809,274...112,862,219

G

checkpoint kinase 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,446,352...120,478,207
Ensembl chr11:124,359,218...124,390,981

G

cytoplasmic linker associated protein 1

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740

NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793

G

calmegin

ClinVar Annotator: match by term: Short stature

NCBI chr 4:132,756,193...132,794,805
Ensembl chr 4:144,060,656...144,099,419

G

chloride intracellular channel 4

ClinVar Annotator: match by term: Short stature

NCBI chr 1:23,947,030...24,042,139
Ensembl chr 1:24,975,260...25,017,904

G

CAP-Gly domain containing linker protein 1

ClinVar Annotator: match by term: Short stature

NCBI chr12:119,873,105...120,024,222
Ensembl chr12:123,242,489...123,348,540

G

CXADR like membrane protein

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,902,792...118,023,936
Ensembl chr11:121,824,398...121,942,055

G

collagen type XI alpha 1 chain

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28492532

NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259

G

collagen type XI alpha 2 chain

Skeletal dysplasia 2, COL11A2-related

NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Short stature

NCBI chr12:40,726,137...40,757,690

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Short stature

PMID:8037207 PMID:9881948 PMID:12787275 PMID:16971478 PMID:19665875 More...

NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919

G

carboxypeptidase Z

ClinVar Annotator: match by term: Short stature

Ensembl chr 4:8,656,029...8,684,722

G

cytotoxic and regulatory T cell molecule

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,671,581...117,705,818
Ensembl chr11:121,591,738...121,625,738

G

cullin 4B

ClinVar Annotator: match by term: Short stature

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

NCBI chr X:109,798,279...109,870,469
Ensembl chr X:119,985,116...120,034,702

G

cullin 7

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28492532

NCBI chr 6:42,629,158...42,646,279
Ensembl chr 6:43,924,408...43,942,768

G

C-X-C motif chemokine receptor 5

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,722,084...113,735,987
Ensembl chr11:117,652,368...117,664,852

G

decapping enzyme, scavenger

ClinVar Annotator: match by term: Short stature

NCBI chr11:121,119,720...121,159,513
Ensembl chr11:125,028,616...125,068,807

G

DEAD-box helicase 25

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,718,758...120,738,527
Ensembl chr11:124,632,841...124,667,585

G

DEAD-box helicase 6

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364

G

DENN domain containing 4B

ClinVar Annotator: match by term: Short stature

NCBI chr 1:129,286,076...129,303,279
Ensembl chr 1:132,914,514...132,929,906

G

DExH-box helicase 34

ClinVar Annotator: match by term: Short stature

NCBI chr19:44,337,299...44,371,403
Ensembl chr19:52,996,392...53,026,046

G

dynein axonemal heavy chain 17

ClinVar Annotator: match by term: Short stature

NCBI chr17:72,499,363...72,648,624
Ensembl chr17:78,048,578...78,195,014

G

DnaJ heat shock protein family (Hsp40) member C21

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:30755392

NCBI chr 5:75,411,784...75,440,485
Ensembl chr 5:80,695,390...80,719,741

G

DNA methyltransferase 3 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

G

DNA replication fork stabilization factor DONSON

CTD Direct Evidence: marker/mechanism

NCBI chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204

G

divergent-paired related homeobox

ClinVar Annotator: match by term: Short stature

NCBI chr19:50,576,699...50,581,605
Ensembl chr19:59,423,417...59,428,237

G

dynein regulatory complex subunit 12 homolog

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,028,927...114,034,620
Ensembl chr11:117,956,945...117,962,655

G

DS cell adhesion molecule like 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,263,509...112,632,332
Ensembl chr11:116,196,677...116,302,262

G

dishevelled segment polarity protein 3

ClinVar Annotator: match by term: Short stature

NCBI chr 3:181,190,961...181,207,831
Ensembl chr 3:189,674,399...189,693,130

G

ER degradation enhancing alpha-mannosidase like protein 3

ClinVar Annotator: match by term: Short stature

NCBI chr 1:160,217,526...160,281,785
Ensembl chr 1:164,372,977...164,436,977

G

EI24 autophagy associated transmembrane protein

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,389,136...120,404,347
Ensembl chr11:124,302,289...124,317,346

G

E1A binding protein p300

ClinVar Annotator: match by term: Short stature

NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604

G

endothelial cell adhesion molecule

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,580,140...119,589,338
Ensembl chr11:123,495,779...123,504,938

G

ETS proto-oncogene 1, transcription factor

ClinVar Annotator: match by term: Short stature

NCBI chr11:123,272,111...123,400,413
Ensembl chr11:127,174,721...127,288,673

G

family with sequence similarity 118 member B

ClinVar Annotator: match by term: Short stature

NCBI chr11:121,025,604...121,076,860
Ensembl chr11:124,936,564...124,988,051

G

fibrillin 1

ClinVar Annotator: match by term: Short stature

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

NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

G

fibrosin

ClinVar Annotator: match by term: Short stature

NCBI chr16:24,298,989...24,311,392
Ensembl chr16:31,027,839...31,037,706

G

fasciculation and elongation protein zeta 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,272,187...120,322,600
Ensembl chr11:124,182,901...124,236,403

G

fibroblast growth factor 18

ClinVar Annotator: match by term: Short stature

NCBI chr 5:166,765,061...166,802,277

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Short stature

PMID:1908846 PMID:7670477 PMID:7773297 PMID:8589686 PMID:8640234 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

Fli-1 proto-oncogene, ETS transcription factor

ClinVar Annotator: match by term: Short stature

NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312

G

filamin A

ClinVar Annotator: match by term: Short stature

PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More...

NCBI chr X:143,799,088...143,825,282

G

filamin B

ClinVar Annotator: match by term: Short stature

NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989

G

forkhead box R1

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,809,875...113,819,093
Ensembl chr11:117,740,678...117,750,262

G

FAD dependent oxidoreductase domain containing 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798

G

FXYD domain containing ion transport regulator 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,654,774...112,666,630
Ensembl chr11:116,587,226...116,595,197

G

FXYD domain containing ion transport regulator 6

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,671,570...112,712,085
Ensembl chr11:116,606,903...116,609,890

G

frizzled class receptor 2

ClinVar Annotator: match by term: Short stature

NCBI chr17:12,839,362...12,843,803

G

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 chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674

G

gamma-aminobutyric acid type A receptor subunit epsilon

ClinVar Annotator: match by term: Short stature

NCBI chr X:141,531,677...141,553,411
Ensembl chr X:151,490,134...151,511,844

G

growth hormone receptor

treatment

DNA:deletion:exon:
ClinVar Annotator: match by term: Short stature

PMID:10984309 PMID:22026923 PMID:25741868 PMID:28492532

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

G

ghrelin and obestatin prepropeptide

protein:increased expression:serum:

NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723

G

growth hormone secretagogue receptor

DNA:mutations: :

PMID:7968381 PMID:21084395

RGD:12904884 RGD:12910126

NCBI chr 3:169,448,217...169,458,602
Ensembl chr 3:177,633,039...177,638,202

G

G protein subunit alpha i2

ClinVar Annotator: match by term: Short stature

NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988

G

GRAM domain containing 1B

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,191,126...118,459,439
Ensembl chr11:122,180,541...122,371,035

G

GREB1 like retinoic acid receptor coactivator

ClinVar Annotator: match by term: Short stature

NCBI chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335

G

glutamate ionotropic receptor kainate type subunit 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:115,348,836...115,827,873
Ensembl chr11:119,564,412...119,750,000

G

hyaluronan and proteoglycan link protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:31,560,282...31,643,138
Ensembl chr 5:31,879,276...31,964,562

G

hepatic and glial cell adhesion molecule

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,746,915...119,764,062
Ensembl chr11:123,663,210...123,678,015

G

hepatocellular carcinoma, down-regulated 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,746,926...119,748,366
Ensembl chr11:123,661,843...123,662,109

G

hes family bHLH transcription factor 7

ClinVar Annotator: match by term: Disproportionate short stature

NCBI chr17:43,530,919...43,537,999

G

histone H4 transcription factor

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,959,670...113,973,781
Ensembl chr11:117,888,855...117,902,184

G

hexokinase domain containing 1

ClinVar Annotator: match by term: Short stature

NCBI chr10:65,687,378...65,734,281
Ensembl chr10:68,220,475...68,267,321

G

hydroxymethylbilane synthase

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757

G

hook microtubule tethering protein 3

ClinVar Annotator: match by term: Short stature

NCBI chr 8:42,145,427...42,278,727
Ensembl chr 8:39,595,762...39,711,043

G

heat shock protein family A (Hsp70) member 8

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773

G

HYLS1 centriolar and ciliogenesis associated

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,703,436...120,716,415

G

hypoxia up-regulated 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005

G

intraflagellar transport 46

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,382,150...113,404,866
Ensembl chr11:117,312,894...117,335,319

G

intraflagellar transport 81

ClinVar Annotator: match by term: Short stature

NCBI chr12:107,659,663...107,794,066
Ensembl chr12:111,096,722...111,186,217

G

insulin like growth factor 1

protein:decreased expression:plasma (rat)
DNA:nonsense mutation,haploinsufficiency :cds:

PMID:20102388 PMID:20668042

RGD:12904931 RGD:8548823

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor 1 receptor

ClinVar Annotator: match by term: Short stature

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

insulin like growth factor binding protein 3

associated with Anemia, Sickle Cell;

NCBI chr 7:46,564,234...46,573,145

G

interleukin 10 receptor subunit alpha

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771

G

inter-alpha-trypsin inhibitor heavy chain family member 6

ClinVar Annotator: match by term: Short stature

NCBI chr X:46,957,480...47,000,642
Ensembl chr X:55,188,633...55,231,778

G

junction adhesion molecule like

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,027,829...113,062,344
Ensembl chr11:116,960,436...116,994,373

G

junctional cadherin complex regulator

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,716,064...117,793,476
Ensembl chr11:121,639,251...121,712,928

G

potassium voltage-gated channel subfamily D member 1

ClinVar Annotator: match by term: Short stature

NCBI chr X:41,258,803...41,270,036
Ensembl chr X:49,115,933...49,127,030

G

potassium inwardly rectifying channel subfamily J member 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860

G

potassium inwardly rectifying channel subfamily J member 5

ClinVar Annotator: match by term: Short stature

NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213

G

KCNJ5 antisense RNA 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:123,715,331...123,718,621
Ensembl chr11:127,615,846...127,621,983

G

kirre like nephrin family adhesion molecule 3

ClinVar Annotator: match by term: Short stature

NCBI chr11:121,236,962...121,821,806
Ensembl chr11:125,146,563...125,723,504

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100

G

laminin subunit alpha 5

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28492532

NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765

G

long intergenic non-protein coding RNA 2873

ClinVar Annotator: match by term: Short stature

NCBI chr11:125,487,375...125,532,848

G

lamin A/C

ClinVar Annotator: match by term: Short stature

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

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

olfactory receptor 10G8

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,858,083...118,859,115

G

olfactory receptor 10G7

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,866,310...118,867,475
Ensembl chr11:122,783,013...122,783,948

G

olfactory receptor 6T1

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,771,165...118,772,241
Ensembl chr11:122,688,041...122,689,012

G

olfactory receptor 10S1

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,805,119...118,806,084

G

olfactory receptor 4D5

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,767,919...118,769,000
Ensembl chr11:122,684,788...122,685,744

G

somatotropin

DNA:mutations:promoter:c.-223C>T( rs41295015), c.-185T>C(rs71651677)(human)
mRNA,protein:decreased expression:pituitary gland, blood:

PMID:2152867 PMID:8670892 PMID:27252485

RGD:12904666 RGD:12905039 RGD:1578506

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

olfactory receptor 6M1

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,633,962...118,635,927
Ensembl chr11:122,552,151...122,553,092

G

olfactory receptor 8D4

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,734,966...118,736,039
Ensembl chr11:122,651,884...122,652,828

G

olfactory receptor 6X1

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,583,457...118,584,395
Ensembl chr11:122,500,073...122,501,011

G

olfactory receptor 8G1

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,077,808...119,078,937

G

T-cell surface glycoprotein CD3 epsilon chain

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625

G

T-cell surface glycoprotein CD3 gamma chain

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,179,270...113,190,104
Ensembl chr11:117,111,132...117,120,566

G

T-cell surface glycoprotein CD3 delta chain

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051

G

huntingtin-interacting protein M

ClinVar Annotator: match by term: Short stature

NCBI chr X:30,439,845...30,440,842
Ensembl chr X:38,148,790...38,149,143

G

SBDS ribosome maturation factor

ClinVar Annotator: match by term: Short stature

PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More...

NCBI chr 7:59,090,343...59,098,332

G

olfactory receptor 8A1

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,395,269...119,396,731
Ensembl chr11:123,310,904...123,311,884

G

olfactory receptor 8B12

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,367,996...119,368,928

G

olfactory receptor 8B4

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,250,801...119,251,733

G

histone H2AX

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,932,078...113,933,679

G

olfactory receptor 8D2

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,159,744...119,160,782
Ensembl chr11:123,075,429...123,076,364

G

olfactory receptor 8G5

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,099,240...119,100,454
Ensembl chr11:123,015,013...123,016,053

G

myosin-8

ClinVar Annotator: match by term: Short stature

NCBI chr17:41,231,081...41,262,671
Ensembl chr17:45,978,472...46,010,038

G

olfactory receptor 8B3

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,223,013...119,224,485

G

LDL receptor related protein 6

ClinVar Annotator: match by term: Short stature

NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Short stature

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

NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

G

microtubule actin crosslinking factor 1

ClinVar Annotator: match by term: Short stature

NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558

G

mitogen-activated protein kinase kinase 2

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28492532

NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933

G

mitogen-activated protein kinase 1

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:32721402

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

melanoma cell adhesion molecule

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,149,583...114,158,234
Ensembl chr11:118,078,179...118,083,893

G

microcephalin 1

ClinVar Annotator: match by term: Short stature

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

NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394

G

mediator complex subunit 24

ClinVar Annotator: match by term: Short stature

NCBI chr17:17,234,660...17,269,794
Ensembl chr17:17,456,137...17,489,992

G

mitofusin 2

ClinVar Annotator: match by term: Short stature

PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More...

NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077

G

membrane frizzled-related protein

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050

G

matrix Gla protein

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28492532 PMID:37923733

NCBI chr12:14,887,806...14,891,796
Ensembl chr12:15,284,883...15,288,523

G

myelin protein zero like 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,063,961...113,102,097
Ensembl chr11:117,023,102...117,034,209

G

myelin protein zero like 3

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,063,957...113,089,929
Ensembl chr11:116,996,090...117,022,051

G

Myb/SANT DNA binding domain containing 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,593,493...119,628,962
Ensembl chr11:123,509,696...123,543,184

G

metastasis associated 1 family member 3

ClinVar Annotator: match by term: Short stature

NCBI chr2A:42,593,721...42,847,045
Ensembl chr2A:43,513,514...43,694,314

G

mitochondrial methionyl-tRNA formyltransferase

ClinVar Annotator: match by term: Short stature

PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More...

NCBI chr15:43,942,227...43,969,182
Ensembl chr15:62,225,620...62,253,612

G

matrix remodeling associated 5

ClinVar Annotator: match by term: Short stature

Ensembl chr X:3,248,134...3,285,917

G

myosin heavy chain 7B

ClinVar Annotator: match by term: Short stature

NCBI chr20:31,284,197...31,330,893
Ensembl chr20:32,428,870...32,455,569

G

NEDD4 binding protein 2 like 2

ClinVar Annotator: match by term: Short stature

NCBI chr13:13,691,326...13,803,162
Ensembl chr13:32,133,603...32,231,003

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090

G

nuclear factor related to kappaB binding protein

ClinVar Annotator: match by term: Short stature

NCBI chr11:124,676,456...124,708,349
Ensembl chr11:128,572,240...128,601,779

G

NHERF family PDZ scaffold protein 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,024,150...114,028,884
Ensembl chr11:117,952,154...117,956,879

G

NLR family member X1

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,007,415...114,022,712
Ensembl chr11:117,935,444...117,950,728

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:35741827

NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637

G

neurogranin

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,566,934...119,574,248

G

neurexin 3

ClinVar Annotator: match by term: Short stature

NCBI chr14:58,729,335...60,444,769
Ensembl chr14:78,002,036...79,619,696

G

NUF2 component of NDC80 kinetochore complex

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:33721060

NCBI chr 1:138,743,251...138,777,201
Ensembl chr 1:142,538,420...142,572,364

G

neurexophilin and PC-esterase domain family member 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:109,341,362...109,556,238
Ensembl chr11:113,466,008...113,490,392

G

neurexophilin and PC-esterase domain family member 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:109,444,062...109,465,161

G

out at first homolog

ClinVar Annotator: match by term: Short stature

NCBI chr11:115,045,790...115,065,032
Ensembl chr11:118,972,574...118,991,170

G

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

ClinVar Annotator: match by term: Short stature

NCBI chr 1:203,605,558...203,781,491
Ensembl chr 1:208,825,607...208,992,246

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: Short stature

PMID:19481195 PMID:25741868

NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567

G

origin recognition complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653

G

oxysterol binding protein

ClinVar Annotator: match by term: Short stature

NCBI chr11:54,800,756...54,841,191
Ensembl chr11:58,252,925...58,291,154

G

platelet activating factor acetylhydrolase 1b catalytic subunit 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:111,978,368...112,005,064
Ensembl chr11:115,911,803...115,944,351

G

pannexin 3

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,438,866...119,452,174
Ensembl chr11:123,354,919...123,363,463

G

prostate and testis expressed 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,565,280...120,568,857
Ensembl chr11:124,478,417...124,480,839

G

prostate and testis expressed 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,595,136...120,703,189
Ensembl chr11:124,509,500...124,510,891

G

prostate and testis expressed 3

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,607,720...120,611,235
Ensembl chr11:124,520,239...124,523,719

G

prostate and testis expressed 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,651,794...120,659,020
Ensembl chr11:124,565,341...124,572,090

G

proprotein convertase subtilisin/kexin type 1

NCBI chr 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,035,502...112,066,170
Ensembl chr11:115,972,414...115,999,748

G

PDZ domain containing ring finger 3

ClinVar Annotator: match by term: Short stature

NCBI chr 3:73,322,613...73,565,929
Ensembl chr 3:75,246,558...75,488,499

G

PHD finger protein 20

ClinVar Annotator: match by term: Short stature

NCBI chr20:32,099,066...32,283,298
Ensembl chr20:33,253,482...33,401,629

G

pleckstrin homology like domain family B member 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,446,275...113,496,941
Ensembl chr11:117,376,205...117,426,391

G

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

ClinVar Annotator: match by term: Short stature

NCBI chr11:17,143,024...17,263,920
Ensembl chr11:16,828,966...16,949,856

G

PBX/knotted 1 homeobox 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,991,916...120,259,800
Ensembl chr11:124,072,715...124,173,865

G

polo like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054

G

plexin A3

ClinVar Annotator: match by term: Short stature

NCBI chr X:143,900,029...143,915,391
Ensembl chr X:153,772,700...153,786,167

G

pogo transposable element derived with ZNF domain

ClinVar Annotator: match by term: Short stature

NCBI chr 1:126,761,777...126,818,262
Ensembl chr 1:130,407,426...130,463,909

G

RNA polymerase II, I and III subunit E

ClinVar Annotator: match by term: Short stature

NCBI chr19:32,263...41,992
Ensembl chr19:1,065,421...1,073,379

G

RNA polymerase III subunit GL

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:31089205

NCBI chr 1:121,781,067...121,793,266
Ensembl chr 1:113,884,899...113,888,690

G

POU class 2 homeobox 3

ClinVar Annotator: match by term: Short stature

NCBI chr11:115,075,399...115,156,307
Ensembl chr11:119,001,408...119,082,531

G

PR/SET domain 10

ClinVar Annotator: match by term: Short stature

NCBI chr11:124,712,440...124,816,141
Ensembl chr11:128,607,600...128,710,156

G

protein kinase cGMP-dependent 2

DNA:deletion:cds (rat)

PMID:15466490 PMID:19149413

RGD:150429792 RGD:150429793

NCBI chr 4:42,987,217...43,114,993
Ensembl chr 4:48,836,953...48,960,383

G

protein arginine methyltransferase 7

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392

NCBI chr16:48,687,324...48,734,883
Ensembl chr16:68,086,620...68,127,953

G

proteasome assembly chaperone 2

ClinVar Annotator: match by term: Short stature

NCBI chr18:1,597,981...1,620,721
Ensembl chr18:16,713,534...16,735,531

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Short stature

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

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

protein tyrosine phosphatase receptor type U

ClinVar Annotator: match by term: Short stature

NCBI chr 1:28,507,078...28,597,154
Ensembl chr 1:29,551,912...29,622,104

G

pseudouridine synthase 3

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,709,264...120,718,773
Ensembl chr11:124,622,279...124,629,508

G

glycogen phosphorylase B

ClinVar Annotator: match by term: Short stature

NCBI chr20:25,191,066...25,242,955
Ensembl chr20:25,593,589...25,648,066

G

RAS p21 protein activator 3

ClinVar Annotator: match by term: Short stature

NCBI chr13:95,036,382...95,195,480
Ensembl chr13:114,123,816...114,271,066

G

RecQ like helicase

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:35025765

NCBI chr12:64,796,383...64,829,165
Ensembl chr12:67,400,315...67,432,724

G

ret proto-oncogene

ClinVar Annotator: match by term: Short stature

PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More...

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Short stature

PMID:24033266 PMID:25741868 PMID:26518681 PMID:27101134 PMID:28492532 More...

NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942

G

ring finger protein 214

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,066,666...112,121,051
Ensembl chr11:116,002,034...116,054,282

G

ring finger protein 26

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,175,586...114,178,379
Ensembl chr11:118,103,505...118,104,806

G

ring finger protein 31

ClinVar Annotator: match by term: Short stature

NCBI chr14:4,923,391...4,936,959
Ensembl chr14:23,047,893...23,061,923

G

roundabout guidance receptor 1

ClinVar Annotator: match by term: Short stature

NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308

G

roundabout guidance receptor 3

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356

G

roundabout guidance receptor 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,711,023...119,724,701
Ensembl chr11:123,626,063...123,639,837

G

receptor tyrosine kinase like orphan receptor 2

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28492532 PMID:31680123 PMID:33937263

NCBI chr 9:62,782,183...63,005,626
Ensembl chr 9:90,851,983...90,965,084

G

ROS proto-oncogene 1, receptor tyrosine kinase

ClinVar Annotator: match by term: Short stature

NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053

G

ribosomal protein S25

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,853,891...113,856,636
Ensembl chr11:117,784,075...117,787,104

G

RNA pseudouridine synthase D4

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,997,815...121,025,558
Ensembl chr11:124,926,910...124,936,621

G

RUNX1 partner transcriptional co-repressor 1

ClinVar Annotator: match by term: Short stature

NCBI chr 8:88,588,560...88,736,614
Ensembl chr 8:90,538,965...90,686,689

G

ryanodine receptor 1

ClinVar Annotator: match by term: Short stature

PMID:19191333 PMID:25741868 PMID:28492532 PMID:32403337 PMID:33333461 More...

NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327

G

sterol-C5-desaturase

ClinVar Annotator: match by term: Short stature

NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386

G

sodium voltage-gated channel beta subunit 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500

G

sodium voltage-gated channel beta subunit 3

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063

G

sodium voltage-gated channel beta subunit 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892

G

signal peptide, CUB domain and EGF like domain containing 3

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:33308444

NCBI chr 6:34,776,605...34,815,808
Ensembl chr 6:35,872,590...35,911,272

G

sialic acid acetylesterase

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,463,554...119,503,192
Ensembl chr11:123,378,866...123,416,935

G

SID1 transmembrane family member 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,012,734...112,031,403
Ensembl chr11:115,946,725...115,963,408

G

SIK family kinase 3

ClinVar Annotator: match by term: Short stature

NCBI chr11:111,680,884...111,932,424
Ensembl chr11:115,613,478...115,730,158

G

SIN3 transcription regulator family member A

CTD Direct Evidence: marker/mechanism

NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506

G

solute carrier family 37 member 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,890,340...119,917,731
Ensembl chr11:123,804,677...123,832,326

G

solute carrier family 37 member 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269

G

solute carrier family 38 member 3

ClinVar Annotator: match by term: Short stature

NCBI chr 3:50,133,631...50,149,394
Ensembl chr 3:51,367,939...51,383,657

G

solute carrier family 7 member 8

ClinVar Annotator: match by term: Short stature

NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112

G

SNF2 related chromatin remodeling ATPase 5

ClinVar Annotator: match by term: Short stature

NCBI chr 4:135,874,888...135,917,096
Ensembl chr 4:147,174,060...147,214,809

G

SNF2 related chromatin remodeling annealing helicase 1

ClinVar Annotator: match by term: Short stature

PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More...

NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258

G

sorting nexin 19

ClinVar Annotator: match by term: Short stature

NCBI chr11:125,691,537...125,732,206
Ensembl chr11:129,581,876...129,622,517

G

sortilin related receptor 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:116,297,014...116,477,399
Ensembl chr11:120,222,491...120,402,432

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Short stature

PMID:17143285 PMID:17586837 PMID:20186801 PMID:20301303 PMID:21387466 More...

NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Short stature

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:129,654,296...129,656,446

G

sperm autoantigenic protein 17

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,501,604...119,526,103
Ensembl chr11:123,416,725...123,437,818

G

SRP receptor subunit alpha

ClinVar Annotator: match by term: Short stature

NCBI chr11:121,071,054...121,083,106
Ensembl chr11:124,987,307...124,993,347

G

sushi repeat containing protein X-linked

ClinVar Annotator: match by term: Short stature

NCBI chr X:30,598,574...30,670,464
Ensembl chr X:38,303,313...38,378,770

G

ST14 transmembrane serine protease matriptase

ClinVar Annotator: match by term: Short stature

NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:121,169,213...121,228,287
Ensembl chr11:125,079,260...125,141,737

G

STT3 oligosaccharyltransferase complex catalytic subunit A

ClinVar Annotator: match by term: Short stature

NCBI chr11:120,412,488...120,440,713
Ensembl chr11:124,325,762...124,353,596

G

synaptotagmin like 5

ClinVar Annotator: match by term: Short stature

NCBI chr X:30,355,289...30,578,052
Ensembl chr X:38,164,308...38,288,628

G

transgelin

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129

G

transmembrane anterior posterior transformation 1

ClinVar Annotator: match by term: Short stature

NCBI chr 4:10,589,166...10,654,951
Ensembl chr 4:15,886,080...15,938,594

G

tubulin folding cofactor E

Kenny-Caffey syndrome , OMIM:244460

NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613

G

transforming growth factor beta regulator 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,450,666...119,463,685
Ensembl chr11:123,365,974...123,378,463

G

thyroglobulin

treatment

CTD Direct Evidence: marker/mechanism

PMID:10760744 PMID:16365524 PMID:24582622

RGD:13605608 RGD:150429798

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

G

Thy-1 cell surface antigen

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,253,535...114,259,495
Ensembl chr11:118,180,717...118,186,901

G

TIR domain containing adaptor protein

ClinVar Annotator: match by term: Short stature

NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309

G

TLC domain containing 5

ClinVar Annotator: match by term: Short stature

NCBI chr11:115,161,556...115,170,850
Ensembl chr11:119,087,580...119,093,621

G

transmembrane protein 218

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,924,220...119,938,931
Ensembl chr11:123,839,054...123,843,682

G

transmembrane protein 225

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,711,832...118,715,420
Ensembl chr11:122,628,109...122,631,425

G

transmembrane protein 25

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,368,595...113,384,290
Ensembl chr11:117,299,183...117,314,494

G

transmembrane protein 45B

ClinVar Annotator: match by term: Short stature

NCBI chr11:124,629,967...124,673,385
Ensembl chr11:128,526,824...128,568,268

G

transmembrane serine protease 13

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,735,048...112,763,561
Ensembl chr11:116,666,773...116,686,762

G

transmembrane serine protease 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:112,910,223...112,953,677
Ensembl chr11:116,843,287...116,884,767

G

tumor protein p53

ClinVar Annotator: match by term: Short stature

PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tumor protein p53 regulated apoptosis inducing protein 1

ClinVar Annotator: match by term: Short stature

NCBI chr11:123,748,770...123,757,797
Ensembl chr11:127,650,841...127,659,213

G

thyroid peroxidase

ClinVar Annotator: match by term: Short stature

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

G

TRAF interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 3:49,760,528...49,789,637
Ensembl chr 3:50,996,647...51,025,241

G

trafficking protein particle complex subunit 4

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,856,661...113,861,855
Ensembl chr11:117,786,838...117,793,395

G

trehalase

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,496,561...113,519,230
Ensembl chr11:117,426,597...117,448,445

G

tripartite motif containing 29

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,946,176...114,973,186
Ensembl chr11:118,872,831...118,899,708

G

tripartite motif containing 37

Mulibrey Nanism, OMIM:253250

NCBI chr17:53,070,235...53,178,209
Ensembl chr17:57,904,813...58,027,100

G

thiosulfate sulfurtransferase like domain containing 3

ClinVar Annotator: match by term: Short stature

NCBI chr 6:97,361,666...97,426,467
Ensembl chr 6:101,249,439...101,278,532

G

tetratricopeptide repeat domain 36

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,364,559...113,368,586
Ensembl chr11:117,295,191...117,298,928

G

titin

ClinVar Annotator: match by term: Short stature

PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr2B:65,783,512...66,064,618

G

ubiquitin associated and SH3 domain containing B

ClinVar Annotator: match by term: Short stature

NCBI chr11:117,489,411...117,647,719
Ensembl chr11:121,410,545...121,563,133

G

ubiquitination factor E4A

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385

G

ubiquitin protein ligase E3 component n-recognin 4

ClinVar Annotator: match by term: Short stature

NCBI chr 1:18,032,528...18,168,954
Ensembl chr 1:19,079,779...19,215,578

G

uroplakin 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,768,506...113,796,564
Ensembl chr11:117,724,038...117,726,313

G

usherin

ClinVar Annotator: match by term: Short stature

PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More...

NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216

G

ubiquitin specific peptidase 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:114,196,725...114,223,411
Ensembl chr11:118,124,350...118,150,868

G

ubiquitin specific peptidase 24

ClinVar Annotator: match by term: Short stature

NCBI chr 1:54,349,948...54,498,131
Ensembl chr 1:55,940,657...56,050,660

G

ubiquitin specific peptidase 45

ClinVar Annotator: match by term: Short stature

NCBI chr 6:97,273,498...97,356,749
Ensembl chr 6:101,155,903...101,238,682

G

ubiquitin specific peptidase 51

ClinVar Annotator: match by term: Short stature

NCBI chr X:47,747,547...47,753,119

G

vitamin D receptor

treatment

DNA:polymorphism:promoter:rs11568820(human)
DNA:SNP:promoter: rs11568820(human)

PMID:24015038 PMID:26400282

RGD:11353416 RGD:13217415

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

G

VPS11 core subunit of CORVET and HOPS complexes

ClinVar Annotator: match by term: Short stature

NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389

G

vacuolar protein sorting 13 homolog B

ClinVar Annotator: match by term: Short stature

PMID:15141358 PMID:15154116 PMID:16648375 PMID:17990063 PMID:20461111 More...

NCBI chr 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271

G

V-set and immunoglobulin domain containing 2

ClinVar Annotator: match by term: Short stature

NCBI chr11:119,573,939...119,579,988
Ensembl chr11:123,490,150...123,495,720

G

von Willebrand factor A domain containing 5A

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,943,755...118,974,886
Ensembl chr11:122,860,255...122,891,317

G

von Willebrand factor C and EGF domains

ClinVar Annotator: match by term: Short stature

NCBI chr11:56,557,167...56,596,311
Ensembl chr11:59,922,172...59,959,747

G

WD repeat domain 6

ClinVar Annotator: match by term: Short stature

NCBI chr 3:48,931,669...48,940,591
Ensembl chr 3:50,013,708...50,021,367

G

WD repeat domain 62

NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038

G

Wnt family member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801

G

Wnt family member 5A

ClinVar Annotator: match by term: Short stature

NCBI chr 3:55,396,279...55,418,579
Ensembl chr 3:56,621,380...56,638,051

G

WW domain containing oxidoreductase

DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202
compared to wild type and heterozygotes

PMID:17803050 PMID:18676360 PMID:19500159

RGD:150429974 RGD:150429978 RGD:150429979

NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Short stature

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455

G

zinc finger BED-type containing 4

ClinVar Annotator: match by term: Short stature

NCBI chr22:30,075,081...30,111,359

G

zinc finger and BTB domain containing 44

ClinVar Annotator: match by term: Short stature

NCBI chr11:125,037,645...125,125,711
Ensembl chr11:128,929,826...128,964,790

G

zinc finger C3H1-type containing

ClinVar Annotator: match by term: Short stature

NCBI chr12:69,133,048...69,187,291
Ensembl chr12:71,992,638...72,047,056

G

zinc finger homeobox 3

ClinVar Annotator: match by term: Short stature

NCBI chr16:51,936,471...52,209,695
Ensembl chr16:72,635,666...72,808,360

G

zinc finger protein 202

ClinVar Annotator: match by term: Short stature

NCBI chr11:118,554,313...118,572,473
Ensembl chr11:122,470,920...122,488,201

G

zinc finger protein 446

ClinVar Annotator: match by term: Short stature

NCBI chr19:55,477,760...55,485,258
Ensembl chr19:64,304,385...64,310,095

G

zinc finger protein 449

ClinVar Annotator: match by term: Short stature

NCBI chr X:124,485,604...124,504,624
Ensembl chr X:134,825,219...134,843,716

G

ZPR1 zinc finger

ClinVar Annotator: match by term: Short stature

NCBI chr11:111,613,940...111,623,539
Ensembl chr11:115,547,973...115,557,883

3-M syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cullin 7

ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome

PMID:16142236 PMID:16199547 PMID:17675530 PMID:19225462 PMID:21396581 More...

NCBI chr 6:42,629,158...42,646,279
Ensembl chr 6:43,924,408...43,942,768

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: 3-M syndrome

NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567

Aarskog syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FYVE, RhoGEF and PH domain containing 1

ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome

PMID:000740980 PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 More...

NCBI chr X:46,648,765...46,699,444
Ensembl chr X:54,880,513...54,930,672

G

TSR2 ribosome maturation factor

ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome

PMID:25741868 PMID:28492532

NCBI chr X:46,643,659...46,648,829
Ensembl chr X:54,875,696...54,880,809

achondrogenesis type IA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and SOCS box containing 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,566,607...74,608,905
Ensembl chr14:93,900,914...93,930,527

G

ataxin 3

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,693,446...72,741,772

G

BTB domain containing 7

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,870,163...73,965,819
Ensembl chr14:93,211,207...93,264,835

G

calmodulin 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135

G

cation channel sperm associated auxiliary subunit beta

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,203,805...72,357,311
Ensembl chr14:91,550,690...91,699,419

G

coiled-coil domain containing 88C

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,897,602...72,044,242
Ensembl chr14:91,244,434...91,393,715

G

chromogranin A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,555,834...73,568,547
Ensembl chr14:92,895,450...92,908,159

G

cleavage and polyadenylation specific factor 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,757,419...72,801,149
Ensembl chr14:92,099,301...92,140,470

G

DEAD-box helicase 24

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,683,068...74,713,394
Ensembl chr14:94,016,438...94,046,635

G

D-glutamate cyclase

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,678,891...71,851,806
Ensembl chr14:91,089,132...91,199,043

G

family with sequence similarity 181 member A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,549,016...74,562,068
Ensembl chr14:93,891,392...93,895,892

G

fibulin 5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304

G

golgin A5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,430,700...73,475,979
Ensembl chr14:92,770,342...92,815,444

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201

G

G protein-coupled receptor 68

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,859,025...71,891,126
Ensembl chr14:91,207,679...91,208,806

G

interferon alpha inducible protein 27

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,742,775...74,748,820
Ensembl chr14:94,046,694...94,082,022

G

interferon alpha inducible protein 27 like 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,713,459...74,734,835

G

interferon alpha inducible protein 27 like 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,759,874...74,761,850

G

inositol-tetrakisphosphate 1-kinase

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,573,020...73,750,109
Ensembl chr14:92,909,785...93,087,773

G

potassium two pore domain channel subfamily K member 13

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:70,678,256...70,803,575
Ensembl chr14:90,032,219...90,154,687

G

legumain

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,337,607...73,383,462
Ensembl chr14:92,677,608...92,723,051

G

cytochrome c oxidase subunit 8C, mitochondrial

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,979,629...73,984,116
Ensembl chr14:93,316,013...93,317,217

G

lysosomal enzyme trafficking factor

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,817,605...73,819,747
Ensembl chr14:93,154,232...93,156,065

G

modulator of apoptosis 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,814,859...73,817,607
Ensembl chr14:93,152,551...93,153,606

G

NADH:ubiquinone oxidoreductase subunit B1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,751,276...72,757,264
Ensembl chr14:92,093,381...92,099,244

G

NRDE-2, necessary for RNA interference, domain containing

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:70,895,376...70,949,969
Ensembl chr14:90,247,035...90,300,705

G

OTU deubiquitinase, ubiquitin aldehyde binding 2

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,658,535...74,681,084
Ensembl chr14:93,991,913...94,015,157

G

protein phosphatase 4 regulatory subunit 3A

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,083,948...72,137,158

G

protein phosphatase 4 regulatory subunit 4

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,806,877...74,912,209
Ensembl chr14:94,139,654...94,244,712

G

proline rich membrane anchor 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,351,140...74,422,033
Ensembl chr14:93,685,784...93,756,139

G

proteasome 26S subunit, ATPase 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:70,873,846...70,889,988
Ensembl chr14:90,225,405...90,241,641

G

Ras and Rab interactor 3

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,148,000...73,322,798
Ensembl chr14:92,488,770...92,662,415

G

ribosomal protein S6 kinase A5

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,489,654...71,679,250
Ensembl chr14:90,840,655...91,028,780

G

serpin family A member 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

G

serpin family A member 10

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,914,680...74,927,325
Ensembl chr14:94,248,362...94,257,835

G

serpin family A member 6

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:74,936,724...74,955,799
Ensembl chr14:94,269,299...94,288,391

G

solute carrier family 24 member 4

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,956,230...73,128,851
Ensembl chr14:92,299,507...92,468,939

G

tandem C2 domains, nuclear

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:72,404,915...72,471,347
Ensembl chr14:91,750,265...91,815,703

G

tyrosyl-DNA phosphodiesterase 1

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802

G

thyroid hormone receptor interactor 11

ClinVar Annotator: match by term: Achondrogenesis Houston-Harris type | ClinVar Annotator: match by term: Achondrogenesis type 1A | ClinVar Annotator: match by term: Achondrogenesis, type IA

PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr14:72,601,649...72,675,784
Ensembl chr14:91,945,392...92,019,231

G

tetratricopeptide repeat domain 7B

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:71,158,480...71,433,819
Ensembl chr14:90,509,829...90,759,714

G

ubiquitin protein ligase E3 component n-recognin 7

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,839,702...73,861,830
Ensembl chr14:93,176,149...93,198,150

G

unc-79 homolog, NALCN channel complex subunit

ClinVar Annotator: match by term: Achondrogenesis, type IA

NCBI chr14:73,965,908...74,340,573
Ensembl chr14:93,399,547...93,674,248

achondrogenesis type IB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB

PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More...

NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676

achondrogenesis type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta

PMID:1429602 PMID:7550321 PMID:7695699 PMID:7752132 PMID:7757081 More...

NCBI chr12:40,726,137...40,757,690

achondroplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aggrecan

OMIM:100800

NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420

G

2',3'-cyclic nucleotide 3' phosphodiesterase

ClinVar Annotator: match by term: Achondroplasia

NCBI chr17:15,338,085...15,349,089
Ensembl chr17:15,560,056...15,568,916

G

fibrillin 1

ClinVar Annotator: match by term: Achondroplasia

PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 More...

NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

G

fibroblast growth factor receptor 3

severity

ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome
DNA:mutation:cds:p.K650M(human)

OMIM
ClinVar
RGD

PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

natriuretic peptide C

OMIM:100800

NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244

G

natriuretic peptide receptor 2

DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800

NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637

G

parathyroid hormone like hormone

OMIM:100800

NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750

G

sprouty related EVH1 domain containing 2

OMIM:100800

NCBI chr2A:65,380,608...65,503,139
Ensembl chr2A:66,503,260...66,624,840

Achondroplastic Dwarfism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Achondroplastic dwarfism

PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

acromesomelic dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth differentiation factor 5

ClinVar Annotator: match by term: Acromesomelic dwarfism | ClinVar Annotator: match by term: Acromesomelic dysplasia

PMID:25741868 PMID:28492532

NCBI chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Acromesomelic dysplasia

NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637

acromesomelic dysplasia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1B

ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES

PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 More...

NCBI chr 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848

acromesomelic dysplasia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase cGMP-dependent 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 4 | ClinVar Annotator: match by term: PRKG2-related condition

PMID:25741868 PMID:33106379 PMID:34782440

NCBI chr 4:42,987,217...43,114,993
Ensembl chr 4:48,836,953...48,960,383

acromesomelic dysplasia, Grebe type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth differentiation factor 5

ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 2A | ClinVar Annotator: match by term: Grebe syndrome

PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 More...

NCBI chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899

acromesomelic dysplasia, Hunter-Thompson type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1B

ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type

NCBI chr 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848

G

growth differentiation factor 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type

PMID:2703235 PMID:8589725 PMID:17384641 PMID:18203755 PMID:25741868 More...

NCBI chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899

acromesomelic dysplasia, Maroteaux type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 18B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,305,062...33,383,152

G

aprataxin

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060

G

aquaporin 3 (Gill blood group)

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438

G

aquaporin 7

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,160,982...33,180,638

G

Rho guanine nucleotide exchange factor 39

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,510,876...35,517,299
Ensembl chr 9:36,313,296...36,319,732

G

AT-rich interaction domain 3C

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,457,638...34,466,425
Ensembl chr 9:35,267,063...35,275,057

G

atos homolog B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,954,618...34,966,860
Ensembl chr 9:35,760,019...35,771,911

G

beta-1,4-galactosyltransferase 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:32,889,124...32,945,759
Ensembl chr 9:33,691,733...33,754,192

G

BAG cochaperone 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167

G

carbonic anhydrase 9

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926

G

calicin

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:36,014,394...36,021,056
Ensembl chr 9:36,820,373...36,822,139

G

C-C motif chemokine ligand 19

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108

G

C-C motif chemokine ligand 21

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,545,248...34,546,801
Ensembl chr 9:35,353,768...35,354,924

G

C-C motif chemokine ligand 27

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,498,478...34,501,475
Ensembl chr 9:35,307,175...35,308,146

G

CD72 molecule

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,461,685...35,470,578
Ensembl chr 9:36,264,500...36,273,326

G

charged multivesicular body protein 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,043,148...33,059,564
Ensembl chr 9:33,851,377...33,867,942

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042

G

clathrin light chain A

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:36,040,566...36,061,744
Ensembl chr 9:36,840,868...36,862,528

G

ciliary neurotrophic factor receptor

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,387,929...34,426,907
Ensembl chr 9:35,197,474...35,214,977

G

cAMP responsive element binding protein 3

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540

G

DDB1 and CUL4 associated factor 12

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,923,900...33,964,443
Ensembl chr 9:34,733,845...34,775,624

G

dynactin subunit 3

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,450,134...34,457,112
Ensembl chr 9:35,259,561...35,266,533

G

dynein axonemal intermediate chain 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,295,010...34,357,331
Ensembl chr 9:35,104,297...35,167,454

G

DnaJ heat shock protein family (Hsp40) member A1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:32,800,077...32,814,745
Ensembl chr 9:33,608,502...33,622,275

G

DnaJ heat shock protein family (Hsp40) member B5

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,836,691...34,845,471
Ensembl chr 9:35,643,056...35,651,879

G

energy homeostasis associated

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,357,384...34,359,369
Ensembl chr 9:35,167,934...35,168,164

G

exosome component 3

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:37,611,173...37,634,869
Ensembl chr 9:38,552,659...38,558,078

G

family with sequence similarity 219 member A

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,234,499...34,294,823
Ensembl chr 9:35,043,472...35,103,920

G

family with sequence similarity 221 member B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,668,180...35,679,557
Ensembl chr 9:36,471,284...36,479,018

G

FA complementation group G

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648

G

F-box protein 10

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:37,355,861...37,421,321
Ensembl chr 9:38,279,653...38,345,040

G

FERM and PDZ domain containing 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:37,497,210...37,595,867
Ensembl chr 9:38,421,706...38,519,025

G

galactose-1-phosphate uridylyltransferase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

G

glucosylceramidase beta 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949

G

GLI pathogenesis related 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812

G

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588

G

glyoxylate and hydroxypyruvate reductase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:37,267,918...37,282,253
Ensembl chr 9:38,192,149...38,206,478

G

histidine triad nucleotide binding protein 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,663,433...35,666,479
Ensembl chr 9:36,465,806...36,468,325

G

histidine rich carboxyl terminus 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,760,064...35,762,224
Ensembl chr 9:36,559,012...36,559,362

G

interleukin 11 receptor subunit alpha

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,487,313...34,498,477

G

kinesin family member 24

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,088,760...34,165,306
Ensembl chr 9:34,898,729...34,973,978

G

olfactory receptor 13J1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,718,990...35,722,649

G

maternal embryonic leucine zipper kinase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:36,419,974...36,522,584
Ensembl chr 9:37,219,170...37,321,318

G

microseminoprotein, prostate associated

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,603,948...35,605,085
Ensembl chr 9:36,406,679...36,407,845

G

myogenesis regulating glycosidase (putative)

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,205,177...34,213,351
Ensembl chr 9:35,015,847...35,017,991

G

NADH:ubiquinone oxidoreductase subunit B6

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:32,327,973...32,347,518
Ensembl chr 9:33,137,836...33,157,006

G

nuclear transcription factor, X-box binding 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,068,235...33,149,271
Ensembl chr 9:33,876,836...33,959,924

G

nucleolar protein 6

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,242,163...33,291,503
Ensembl chr 9:34,053,100...34,100,854

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dwarfism Maroteux type | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA

PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More...

NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637

G

nudix hydrolase 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,165,452...34,179,722
Ensembl chr 9:34,974,240...34,988,453

G

paired box 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:36,677,369...36,876,678
Ensembl chr 9:37,474,267...37,673,684

G

PHD finger protein 24

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,735,800...34,829,555
Ensembl chr 9:35,611,517...35,635,964

G

phosphatidylinositol glycan anchor biosynthesis class O

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,939,258...34,947,167
Ensembl chr 9:35,744,664...35,752,522

G

RNA polymerase I subunit E

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:37,331,149...37,348,652
Ensembl chr 9:38,255,067...38,272,498

G

serine protease 3

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,589,522...33,637,991
Ensembl chr 9:34,401,323...34,449,666

G

reversion inducing cysteine rich protein with kazal motifs

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116

G

RGP1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,600,213...35,641,371
Ensembl chr 9:36,403,447...36,411,420

G

RNA sensor RIG-I

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:32,230,012...32,302,159
Ensembl chr 9:33,040,000...33,110,557

G

ring finger protein 38

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:36,185,284...36,335,915
Ensembl chr 9:36,985,433...37,048,013

G

ribonuclease P/MRP subunit p25 like

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,447,073...34,448,762
Ensembl chr 9:35,256,822...35,257,313

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582

G

sigma non-opioid intracellular receptor 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,471,362...34,474,459

G

signaling threshold regulating transmembrane adaptor 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,501,346...35,502,992
Ensembl chr 9:36,303,675...36,305,328

G

SMU1 DNA replication regulator and spliceosomal factor

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:32,819,539...32,851,273
Ensembl chr 9:33,628,027...33,659,539

G

sperm associated antigen 8

ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA

PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 More...

NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112

G

SPATA31 subfamily F member 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,674,545...34,680,875

G

SPATA31 subfamily G member 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,892,418...34,896,577
Ensembl chr 9:35,697,549...35,702,395

G

serine peptidase inhibitor Kazal type 4

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

G

sperm microtubule inner protein 6

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,215,298...34,234,358
Ensembl chr 9:35,024,088...35,043,323

G

stomatin like 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,950,387...34,953,707
Ensembl chr 9:35,755,790...35,759,091

G

TATA-box binding protein associated factor 1 like

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:32,403,835...32,409,767
Ensembl chr 9:33,216,048...33,221,525

G

testis associated actin remodelling kinase 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,456,965...35,461,736
Ensembl chr 9:36,258,902...36,264,545

G

talin 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228

G

transmembrane protein 215

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:32,557,141...32,563,166
Ensembl chr 9:33,369,459...33,370,166

G

transmembrane protein 8B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,679,698...35,704,945
Ensembl chr 9:36,482,289...36,507,300

G

translocase of outer mitochondrial membrane 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:37,433,186...37,437,397
Ensembl chr 9:38,357,617...38,361,267

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:32,314,850...32,327,067
Ensembl chr 9:33,124,730...33,135,129

G

tropomyosin 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394

G

tRNA methyltransferase 10B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:37,602,757...37,628,693
Ensembl chr 9:38,526,496...38,551,902

G

ubiquitin associated protein 1

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,015,077...34,088,908
Ensembl chr 9:34,825,825...34,898,868

G

ubiquitin associated protein 2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,759,877...33,887,146
Ensembl chr 9:34,570,883...34,697,752

G

ubiquitin conjugating enzyme E2 R2

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:33,655,690...33,758,587

G

unc-13 homolog B

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:35,011,350...35,255,148
Ensembl chr 9:35,817,353...36,059,894

G

valosin containing protein

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588

G

zinc finger and BTB domain containing 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:37,282,824...37,310,710
Ensembl chr 9:38,209,979...38,212,012

G

zinc finger CCHC-type containing 7

ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type

NCBI chr 9:36,962,689...37,201,092

Alazami Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin beta 1

ClinVar Annotator: match by term: Alazami syndrome

PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More...

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

La ribonucleoprotein 7, transcriptional regulator

ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition

PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More...

NCBI chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003

AMED syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alcohol dehydrogenase 5 (class III), chi polypeptide

ClinVar Annotator: match by term: AMED syndrome, digenic

PMID:25741868 PMID:33355142

NCBI chr 4:91,470,304...91,487,854
Ensembl chr 4:102,134,375...102,151,902

G

aldehyde dehydrogenase 2 family member

ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC

PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More...

NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471

anauxetic dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho guanine nucleotide exchange factor 39

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,510,876...35,517,299
Ensembl chr 9:36,313,296...36,319,732

G

AT-rich interaction domain 3C

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,457,638...34,466,425
Ensembl chr 9:35,267,063...35,275,057

G

atos homolog B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,954,618...34,966,860
Ensembl chr 9:35,760,019...35,771,911

G

carbonic anhydrase 9

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Anauxetic dysplasia

PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More...

NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926

G

calicin

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:36,014,394...36,021,056
Ensembl chr 9:36,820,373...36,822,139

G

C-C motif chemokine ligand 19

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108

G

C-C motif chemokine ligand 21

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,545,248...34,546,801
Ensembl chr 9:35,353,768...35,354,924

G

C-C motif chemokine ligand 27

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,498,478...34,501,475
Ensembl chr 9:35,307,175...35,308,146

G

CD72 molecule

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,461,685...35,470,578
Ensembl chr 9:36,264,500...36,273,326

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042

G

clathrin light chain A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:36,040,566...36,061,744
Ensembl chr 9:36,840,868...36,862,528

G

ciliary neurotrophic factor receptor

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,387,929...34,426,907
Ensembl chr 9:35,197,474...35,214,977

G

cAMP responsive element binding protein 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540

G

dynactin subunit 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,450,134...34,457,112
Ensembl chr 9:35,259,561...35,266,533

G

dynein axonemal intermediate chain 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,295,010...34,357,331
Ensembl chr 9:35,104,297...35,167,454

G

DnaJ heat shock protein family (Hsp40) member B5

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,836,691...34,845,471
Ensembl chr 9:35,643,056...35,651,879

G

energy homeostasis associated

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,357,384...34,359,369
Ensembl chr 9:35,167,934...35,168,164

G

family with sequence similarity 219 member A

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,234,499...34,294,823
Ensembl chr 9:35,043,472...35,103,920

G

family with sequence similarity 221 member B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,668,180...35,679,557
Ensembl chr 9:36,471,284...36,479,018

G

FA complementation group G

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648

G

galactose-1-phosphate uridylyltransferase

ClinVar Annotator: match by term: Anauxetic dysplasia

G

glucosylceramidase beta 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949

G

GLI pathogenesis related 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812

G

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588

G

histidine triad nucleotide binding protein 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,663,433...35,666,479
Ensembl chr 9:36,465,806...36,468,325

G

histidine rich carboxyl terminus 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,760,064...35,762,224
Ensembl chr 9:36,559,012...36,559,362

G

interleukin 11 receptor subunit alpha

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,487,313...34,498,477

G

uncharacterized LOC100977215

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,501,614...34,502,680

G

olfactory receptor 13J1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,718,990...35,722,649

G

microseminoprotein, prostate associated

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,603,948...35,605,085
Ensembl chr 9:36,406,679...36,407,845

G

myogenesis regulating glycosidase (putative)

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,205,177...34,213,351
Ensembl chr 9:35,015,847...35,017,991

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637

G

PHD finger protein 24

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,735,800...34,829,555
Ensembl chr 9:35,611,517...35,635,964

G

phosphatidylinositol glycan anchor biosynthesis class O

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,939,258...34,947,167
Ensembl chr 9:35,744,664...35,752,522

G

reversion inducing cysteine rich protein with kazal motifs

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116

G

RGP1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,600,213...35,641,371
Ensembl chr 9:36,403,447...36,411,420

G

ribonuclease P/MRP subunit p25 like

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,447,073...34,448,762
Ensembl chr 9:35,256,822...35,257,313

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582

G

sigma non-opioid intracellular receptor 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,471,362...34,474,459

G

signaling threshold regulating transmembrane adaptor 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,501,346...35,502,992
Ensembl chr 9:36,303,675...36,305,328

G

small regulatory polypeptide of amino acid response

ClinVar Annotator: match by term: Anauxetic dysplasia

Ensembl chr 9:36,563,148...36,563,420

G

sperm associated antigen 8

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112

G

SPATA31 subfamily F member 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,674,545...34,680,875

G

SPATA31 subfamily F member 3

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,735,282...34,741,992
Ensembl chr 9:35,545,038...35,551,746

G

SPATA31 subfamily G member 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,892,418...34,896,577
Ensembl chr 9:35,697,549...35,702,395

G

sperm microtubule inner protein 6

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,215,298...34,234,358
Ensembl chr 9:35,024,088...35,043,323

G

stomatin like 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,950,387...34,953,707
Ensembl chr 9:35,755,790...35,759,091

G

testis associated actin remodelling kinase 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,456,965...35,461,736
Ensembl chr 9:36,258,902...36,264,545

G

talin 1

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228

G

transmembrane protein 8B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,679,698...35,704,945
Ensembl chr 9:36,482,289...36,507,300

G

tropomyosin 2

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394

G

unc-13 homolog B

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:35,011,350...35,255,148
Ensembl chr 9:35,817,353...36,059,894

G

valosin containing protein

ClinVar Annotator: match by term: Anauxetic dysplasia

NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588

anauxetic dysplasia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type

PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 More...

NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926

G

POP1 homolog, ribonuclease P/MRP subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328

anauxetic dysplasia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

POP1 homolog, ribonuclease P/MRP subunit

ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition

PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 More...

NCBI chr 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328

anauxetic dysplasia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GTP binding protein 8 (putative)

ClinVar Annotator: match by term: NEPRO-related condition

NCBI chr 3:110,140,853...110,152,046
Ensembl chr 3:117,065,130...117,075,587

G

nucleolus and neural progenitor protein

ClinVar Annotator: match by term: Anauxetic dysplasia 3 | ClinVar Annotator: match by term: NEPRO-related condition

PMID:25741868 PMID:26633546 PMID:28492532 PMID:29620724 PMID:31250547

NCBI chr 3:110,152,415...110,169,736
Ensembl chr 3:117,076,649...117,094,041

Atelosteogenesis Type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

filamin B

ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III

PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More...

NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989

autosomal dominant Robinow syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1

PMID:25045061 PMID:25741868 PMID:25817014 PMID:28492532

NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008

G

dishevelled segment polarity protein 3

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1

PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530

NCBI chr 3:181,190,961...181,207,831
Ensembl chr 3:189,674,399...189,693,130

G

frizzled class receptor 2

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1

PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More...

NCBI chr17:12,839,362...12,843,803

G

receptor tyrosine kinase like orphan receptor 2

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1

PMID:25741868 PMID:28492532

NCBI chr 9:62,782,183...63,005,626
Ensembl chr 9:90,851,983...90,965,084

G

Wnt family member 5A

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 | ClinVar Annotator: match by term: WNT5A-related condition

PMID:5771504 PMID:9536098 PMID:16602827 PMID:17576681 PMID:18414213 More...

NCBI chr 3:55,396,279...55,418,579
Ensembl chr 3:56,621,380...56,638,051

autosomal dominant Robinow syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chimerin 1

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2

NCBI chr2B:62,074,405...62,283,013

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 | ClinVar Annotator: match by term: DVL1-related condition

PMID:9536098 PMID:10319206 PMID:17576681 PMID:23806086 PMID:24088041 More...

NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008

G

dishevelled segment polarity protein 3

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2

PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:29276006

NCBI chr 3:181,190,961...181,207,831
Ensembl chr 3:189,674,399...189,693,130

G

frizzled class receptor 2

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2

PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 More...

NCBI chr17:12,839,362...12,843,803

autosomal dominant Robinow syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dishevelled segment polarity protein 3

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition

PMID:9536098 PMID:17576681 PMID:23806086 PMID:24088041 PMID:25741868 More...

NCBI chr 3:181,190,961...181,207,831
Ensembl chr 3:189,674,399...189,693,130

G

frizzled class receptor 2

ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3

PMID:25741868 PMID:29276006

NCBI chr17:12,839,362...12,843,803

autosomal recessive Robinow syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prickle planar cell polarity protein 1

OMIM:268310

NCBI chr12:46,127,673...46,262,333
Ensembl chr12:47,100,393...47,126,102

G

receptor tyrosine kinase like orphan receptor 2

ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: ROR2-related disorder | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly

PMID:10932186 PMID:10932187 PMID:10986040 PMID:15952209 PMID:16049033 More...

NCBI chr 9:62,782,183...63,005,626
Ensembl chr 9:90,851,983...90,965,084

autosomal recessive Robinow syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoredoxin

ClinVar Annotator: match by term: NXN-related condition | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2

PMID:25741868 PMID:28492532 PMID:29276006

NCBI chr17:769,179...946,981

Boomerang dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

filamin B

ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia

PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532

NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989

Brain-Lung-Thyroid Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 4, N-acyl phospholipase B

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,434,357...3,448,471
Ensembl chr14:21,535,753...21,549,856

G

apoptotic chromatin condensation inducer 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,878,426...3,915,802
Ensembl chr14:21,975,370...22,012,092

G

adenylate cyclase 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,094,899...5,111,603
Ensembl chr14:23,218,178...23,234,861

G

ajuba LIM protein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,791,309...3,802,763
Ensembl chr14:21,889,443...21,900,700

G

A-kinase anchoring protein 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:12,978,221...13,602,732
Ensembl chr14:31,395,026...31,792,166

G

angiogenin

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393

G

adaptor related protein complex 1 subunit gamma 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,378,017...4,386,319
Ensembl chr14:22,471,343...22,479,801

G

adaptor related protein complex 4 subunit sigma 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239

G

ARF GTPase 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,482,191...30,486,741
Ensembl chr14:48,789,329...48,789,856

G

Rho GTPase activating protein 5

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:12,844,042...12,934,411
Ensembl chr14:31,036,511...31,125,349

G

Rho guanine nucleotide exchange factor 40

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,884,772...1,904,120
Ensembl chr14:19,969,664...19,985,466

G

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473

G

BRMS1 like transcriptional repressor

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:16,579,323...16,628,005
Ensembl chr14:34,759,935...34,807,803

G

chromosome 15 C14orf119 homolog

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,915,675...3,918,781

G

chromosome 15 C14orf93 homolog

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,807,076...3,830,892
Ensembl chr14:21,905,028...21,928,242

G

capping protein regulator and myosin 1 linker 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,830,041...4,847,897
Ensembl chr14:22,954,274...22,971,981

G

cerebellin 3 precursor

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,200,297...5,206,018

G

cadherin 24

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,866,958...3,877,393
Ensembl chr14:21,964,897...21,972,528

G

CCAAT enhancer binding protein epsilon

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219

G

cofilin 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473

G

chromodomain helicase DNA binding protein 8

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361

G

charged multivesicular body protein 4A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,985,642...4,989,985

G

C-type lectin domain containing 14A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:19,014,672...19,018,551
Ensembl chr14:37,374,493...37,375,965

G

chymase 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548

G

CKLF like MARVEL transmembrane domain containing 5

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,195,460...4,198,422
Ensembl chr14:22,290,354...22,292,592

G

cochlin

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:11,649,072...11,665,231
Ensembl chr14:29,848,611...29,868,943

G

copine 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,848,845...4,856,085
Ensembl chr14:22,973,157...22,980,341

G

cathepsin G

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,342,517...5,345,218
Ensembl chr14:23,466,265...23,468,960

G

defender against cell death 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,401,048...3,425,359
Ensembl chr14:21,502,618...21,526,793

G

DDB1 and CUL4 associated factor 11

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,890,956...4,900,296
Ensembl chr14:23,015,680...23,024,650

G

dehydrogenase/reductase 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,066,996...5,076,229
Ensembl chr14:23,190,323...23,199,587

G

dehydrogenase/reductase 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

Ensembl chr14:22,831,756...22,846,695

G

dynein axonemal assembly factor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,203,426...30,213,629
Ensembl chr14:48,513,696...48,522,800

G

dopamine receptor interacting protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:25,514,741...25,524,710
Ensembl chr14:43,843,018...43,852,917

G

D-aminoacyl-tRNA deacylase 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:12,222,744...12,234,227
Ensembl chr14:30,419,810...30,431,296

G

E2F associated phosphoprotein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:15,273,149...15,297,241
Ensembl chr14:33,462,959...33,485,186

G

epididymal protein 3A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,608,955...1,610,069
Ensembl chr14:19,666,172...19,666,615

G

epididymal protein 3B

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,630,027...1,632,566
Ensembl chr14:19,688,641...19,689,084

G

embryonal Fyn-associated substrate

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,174,676...4,185,215
Ensembl chr14:22,270,952...22,278,732

G

egl-9 family hypoxia inducible factor 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:14,689,398...14,716,301
Ensembl chr14:32,880,324...32,907,241

G

ER membrane protein complex subunit 9

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,915,214...4,917,889
Ensembl chr14:23,039,400...23,042,054

G

FA complementation group M

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958

G

F-box protein 33

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:20,170,332...20,205,181
Ensembl chr14:38,526,437...38,558,626

G

fat storage inducing transmembrane protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,906,504...4,909,119
Ensembl chr14:23,031,818...23,033,459

G

FKBP prolyl isomerase 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:25,732,308...25,750,885
Ensembl chr14:44,060,160...44,078,742

G

forkhead box A1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:18,347,284...18,352,705

G

forkhead box G1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

G

fibrous sheath CABYR binding protein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:25,124,746...25,127,510

G

G2/M-phase specific E3 ubiquitin protein ligase

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:11,338,212...11,398,545
Ensembl chr14:29,484,584...29,539,430

G

gem nuclear organelle associated protein 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:19,884,100...19,906,823
Ensembl chr14:38,240,379...38,261,925

G

guanosine monophosphate reductase 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,008,664...5,015,461
Ensembl chr14:23,132,227...23,139,044

G

G protein-coupled receptor 33

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:12,259,566...12,264,971
Ensembl chr14:30,456,788...30,457,789

G

granzyme B

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,399,888...5,403,200
Ensembl chr14:23,523,619...23,526,931

G

granzyme H

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,375,775...5,379,021
Ensembl chr14:23,499,513...23,502,674

G

HAUS augmin like complex subunit 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,766,343...3,777,591
Ensembl chr14:21,865,257...21,875,756

G

HEAT repeat containing 5A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:12,070,011...12,230,065
Ensembl chr14:30,267,861...30,395,893

G

HECT domain E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:11,871,973...11,979,548
Ensembl chr14:30,070,567...30,176,915

G

heterogeneous nuclear ribonucleoprotein C

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,022,280...2,083,215

G

homeobox and leucine zipper encoding

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,093,357...4,106,323
Ensembl chr14:22,188,881...22,200,496

G

interleukin 25

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,191,888...4,195,043
Ensembl chr14:22,286,347...22,289,498

G

INSM transcriptional repressor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:16,287,866...16,290,884

G

importin 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,956,456...4,965,305
Ensembl chr14:23,079,910...23,088,610

G

interferon regulatory factor 9

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,937,068...4,942,870
Ensembl chr14:23,061,990...23,067,824

G

junctophilin 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,386,487...4,397,552
Ensembl chr14:22,479,813...22,490,924

G

KH and NYN domain containing

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,205,650...5,216,436
Ensembl chr14:23,329,932...23,340,966

G

kelch domain containing 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,272,009...30,334,693
Ensembl chr14:48,580,779...48,642,724

G

kelch domain containing 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,356,506...30,372,018
Ensembl chr14:48,668,025...48,679,105

G

kelch like family member 28

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:25,540,348...25,578,933
Ensembl chr14:43,869,220...43,905,989

G

L-2-hydroxyglutarate dehydrogenase

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993

G

dehydrogenase/reductase SDR family member 2, mitochondrial

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,457,316...4,466,551
Ensembl chr14:22,551,645...22,558,926

G

myosin-7

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

G

leukotriene B4 receptor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,076,270...5,085,596
Ensembl chr14:23,199,608...23,208,877

G

putative uncharacterized protein encoded by LINC01599

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,671,031...30,680,109

G

olfactory receptor 4E2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,474,364...2,475,305
Ensembl chr14:20,591,011...20,591,952

G

non-secretory ribonuclease

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,759,482...1,760,873
Ensembl chr14:19,841,364...19,841,849

G

signal recognition particle subunit SRP54

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151

G

olfactory receptor 5AU1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,969,308...1,970,494
Ensembl chr14:20,051,042...20,052,130

G

olfactory receptor 10G3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,386,394...2,387,532
Ensembl chr14:20,462,044...20,462,985

G

olfactory receptor 10G2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,418,780...2,419,723

G

leucine rich repeat and fibronectin type III domain containing 5

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:22,185,289...22,480,641
Ensembl chr14:40,676,278...40,814,212

G

LDL receptor related protein 10

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936

G

leucine rich repeat protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,176,924...30,192,847
Ensembl chr14:48,486,914...48,502,794

G

leukotriene B4 receptor

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,088,907...5,094,571
Ensembl chr14:23,215,469...23,216,527

G

MAP3K12 binding inhibitory protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:17,052,270...17,074,609
Ensembl chr14:35,231,398...35,253,746

G

MAM domain containing glycosylphosphatidylinositol anchor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:27,434,904...28,274,969
Ensembl chr14:45,752,214...46,583,991

G

magnesium dependent phosphatase 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,987,859...4,992,300
Ensembl chr14:23,112,062...23,116,606

G

methyltransferase like 17

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,804,655...1,811,771
Ensembl chr14:19,886,675...19,893,901

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,315,868...2,329,460
Ensembl chr14:20,392,665...20,405,906

G

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

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,199,011...30,201,566

G

MIA SH3 domain ER export factor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:20,006,513...20,123,814
Ensembl chr14:38,361,828...38,513,998

G

mirror-image polydactyly 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:17,950,537...18,337,540
Ensembl chr14:36,334,202...36,672,352

G

MIS18 binding protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:25,819,302...25,869,819
Ensembl chr14:44,147,183...44,189,888

G

matrix metallopeptidase 14

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058

G

mitochondrial ribosomal protein L52

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,647,387...3,651,940
Ensembl chr14:21,746,646...21,751,108

G

myosin heavy chain 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

G

NDRG family member 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,831,764...1,840,819
Ensembl chr14:19,913,674...19,967,470

G

NEDD8 ubiquitin like modifier

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,993,011...5,008,620
Ensembl chr14:23,117,271...23,132,249

G

nuclear export mediator factor

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,372,390...30,441,660
Ensembl chr14:48,679,252...48,748,258

G

nuclear factor of activated T cells 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,141,699...5,156,021
Ensembl chr14:23,266,702...23,279,249

G

NFKB inhibitor alpha

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:16,155,331...16,158,588

G

neuroguidin

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,288,325...4,296,671
Ensembl chr14:22,382,334...22,390,718

G

NK2 homeobox 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress

PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More...

G

NK2 homeobox 8

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:17,332,188...17,335,036
Ensembl chr14:35,693,746...35,696,339

G

NOVA alternative splicing regulator 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:7,193,308...7,345,535
Ensembl chr14:25,314,077...25,466,861

G

neuronal PAS domain protein 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:13,701,786...14,568,738
Ensembl chr14:31,893,101...32,758,096

G

neural retina leucine zipper

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,858,105...4,891,207
Ensembl chr14:22,982,367...22,998,187

G

NUBP iron-sulfur cluster assembly factor, mitochondrial

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:12,338,341...12,628,346

G

NYN domain and retroviral integrase containing

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,174,889...5,195,706
Ensembl chr14:23,298,139...23,318,905

G

OXA1L mitochondrial inner membrane insertase

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101

G

poly(A) binding protein nuclear 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,126,179...4,144,810
Ensembl chr14:22,220,986...22,239,403

G

paired box 9

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697

G

phosphoenolpyruvate carboxykinase 2, mitochondrial

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,872,276...4,882,118
Ensembl chr14:22,996,813...23,006,775

G

pinin, desmosome associated protein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:19,945,185...19,952,922
Ensembl chr14:38,300,782...38,308,512

G

DNA polymerase epsilon 2, accessory subunit

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,222,957...30,268,455
Ensembl chr14:48,531,945...48,576,700

G

protein phosphatase 1 regulatory subunit 3E

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,118,827...4,122,294
Ensembl chr14:22,215,635...22,216,794

G

protein phosphatase 2 regulatory subunit B''gamma

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842

G

protein kinase D1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030

G

protein arginine methyltransferase 5

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018

G

protein only RNase P catalytic subunit

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657

G

pre-mRNA processing factor 39

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:25,700,636...25,732,012
Ensembl chr14:44,027,452...44,059,865

G

proteasome 20S subunit alpha 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347

G

proteasome subunit beta 11

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,861,823...3,863,949
Ensembl chr14:21,959,146...21,960,048

G

proteasome 20S subunit beta 5

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,845,951...3,855,335
Ensembl chr14:21,943,432...21,952,169

G

proteasome activator subunit 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405

G

proteasome activator subunit 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296

G

RAB2B, member RAS oncogene family

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,276,798...2,294,730
Ensembl chr14:20,353,701...20,371,629

G

Rab geranylgeranyltransferase subunit alpha

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,041,694...5,047,775
Ensembl chr14:23,163,034...23,171,311

G

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430

G

RNA binding motif protein 23

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,710,492...3,736,415
Ensembl chr14:21,817,434...21,835,668

G

REC8 meiotic recombination protein

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,948,100...4,956,492
Ensembl chr14:23,071,724...23,079,948

G

RRAD and GEM like GTPase 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,700,397...3,704,897
Ensembl chr14:21,800,155...21,804,692

G

receptor interacting serine/threonine kinase 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821

G

ribonuclease A family member 1, pancreatic

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,663,595...1,665,121
Ensembl chr14:19,720,127...19,720,597

G

ribonuclease A family member 13 (inactive)

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,847,810...1,849,797

G

ribonuclease A family member 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,548,729...1,564,819
Ensembl chr14:19,620,758...19,621,201

G

ribonuclease A family member 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,642,819...1,644,582
Ensembl chr14:19,700,536...19,700,988

G

ribonuclease A family member 7

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,857,213...1,858,781
Ensembl chr14:19,939,884...19,940,354

G

ribonuclease A family member 8

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,872,595...1,873,331
Ensembl chr14:19,954,680...19,955,147

G

ring finger protein 212B

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,056,671...4,093,210
Ensembl chr14:22,153,247...22,188,319

G

ring finger protein 31

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,923,391...4,936,959
Ensembl chr14:23,047,893...23,061,923

G

RPGR interacting protein 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064

G

ribosomal protein L10 like

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:27,254,150...27,255,381
Ensembl chr14:45,565,079...45,565,723

G

ribosomal protein L36a like

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,196,924...30,198,944
Ensembl chr14:48,506,945...48,507,265

G

ribosomal protein S29

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,155,559...30,164,677

G

spalt like transcription factor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,338,806...2,354,970
Ensembl chr14:20,416,071...20,431,000

G

sec1 family domain containing 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:11,401,378...11,508,418
Ensembl chr14:29,602,241...29,709,133

G

short chain dehydrogenase/reductase family 39U member 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,216,102...5,219,234
Ensembl chr14:23,339,388...23,342,423

G

SEC23 homolog A, COPII coat complex component

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:19,802,612...19,873,076
Ensembl chr14:38,159,381...38,229,550

G

solute carrier family 22 member 17

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,165,419...4,172,002
Ensembl chr14:22,260,079...22,266,667

G

solute carrier family 25 member 21

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633

G

solute carrier family 39 member 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,813,992...1,818,226
Ensembl chr14:19,896,112...19,898,728

G

solute carrier family 7 member 7

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,590,781...3,637,588
Ensembl chr14:21,690,145...21,738,057

G

solute carrier family 7 member 8

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112

G

sorting nexin 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:15,319,526...15,388,326
Ensembl chr14:33,511,019...33,576,705

G

SOS Ras/Rho guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764

G

serine palmitoyltransferase small subunit A

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:15,190,833...15,219,882

G

somatostatin receptor 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:18,968,969...18,973,560
Ensembl chr14:37,329,309...37,330,484

G

striatin 3

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:11,668,426...11,798,776
Ensembl chr14:29,869,414...29,997,838

G

syntaxin binding protein 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,578,254...5,819,152

G

SPT16 homolog, facilitates chromatin remodeling subunit

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,169,169...2,201,911
Ensembl chr14:20,247,325...20,280,074

G

transglutaminase 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477

G

thiamine triphosphatase

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,374,439...4,378,028
Ensembl chr14:22,467,506...22,471,356

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825

G

transmembrane 9 superfamily member 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,965,352...4,972,476

G

transmembrane protein 253

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,913,655...1,917,874

G

TOG array regulator of axonemal microtubules 1

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042

G

TOX high mobility group box family member 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:2,294,892...2,316,901
Ensembl chr14:20,371,820...20,393,696

G

tubulin polymerization promoting protein family member 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,839,314...1,847,789
Ensembl chr14:19,927,478...19,928,973

G

trafficking protein particle complex subunit 6B

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:19,917,745...19,940,589
Ensembl chr14:38,273,526...38,296,231

G

testis specific serine kinase 4

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,980,178...4,984,291
Ensembl chr14:23,104,197...23,108,037

G

tetratricopeptide repeat domain 6

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:18,363,956...18,601,589
Ensembl chr14:36,740,892...36,962,078

G

valosin containing protein lysine methyltransferase

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:30,695,992...30,707,327
Ensembl chr14:49,002,181...49,013,187

G

zinc finger homeobox 2

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:4,339,326...4,370,756
Ensembl chr14:22,433,148...22,463,925

G

zinc finger protein 219

ClinVar Annotator: match by term: Brain-lung-thyroid syndrome

NCBI chr14:1,904,632...1,919,304
Ensembl chr14:19,986,653...20,000,300

CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

isoleucyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | ClinVar Annotator: match by term: IARS2-related condition

PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More...

NCBI chr 1:195,666,995...195,720,661
Ensembl chr 1:200,703,711...200,757,648

cerebrooculofacioskeletal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 6, chromatin remodeling factor

ClinVar Annotator: match by term: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr10:44,703,720...44,784,948

cerebrooculofacioskeletal syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 2, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1

PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

ERCC excision repair 6, chromatin remodeling factor

ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II

PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More...

NCBI chr10:44,703,720...44,784,948

cerebrooculofacioskeletal syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 2, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2

PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More...

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

kinesin light chain 3

ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2

NCBI chr19:42,293,515...42,300,592
Ensembl chr19:50,887,900...50,898,689

cerebrooculofacioskeletal syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3

PMID:8818951 PMID:9096355 PMID:9536098 PMID:11443545 PMID:17466625 More...

NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182

cerebrooculofacioskeletal syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 1, endonuclease non-catalytic subunit

ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 | ClinVar Annotator: match by term: ERCC1-related condition

PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 More...

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

G

RNA polymerase I subunit G

ClinVar Annotator: match by term: ERCC1-related condition

PMID:25741868 PMID:28492532 PMID:33116287

NCBI chr19:42,354,919...42,359,537
Ensembl chr19:50,951,038...50,953,826

Cockayne syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 1, endonuclease non-catalytic subunit

ClinVar Annotator: match by term: Cockayne syndrome

PMID:17273966 PMID:23623389

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

G

ERCC excision repair 2, TFIIH core complex helicase subunit

associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse)

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

ERCC excision repair 3, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME

PMID:16947863 PMID:24728327 PMID:25741868 PMID:26023681 PMID:27004399 More...

NCBI chr2B:32,983,492...33,020,492
Ensembl chr2B:127,922,483...127,959,372

G

ERCC excision repair 4, endonuclease catalytic subunit

ClinVar Annotator: match by term: Progeroid nanism

PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More...

NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496

G

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex | ClinVar Annotator: match by term: Xeroderma pigmentosum group G/Cockayne syndrome

PMID:2478446 PMID:8317483 PMID:9096355 PMID:11228268 PMID:25741868 More...

NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182

G

ERCC excision repair 6, chromatin remodeling factor

ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism

PMID:7264357 PMID:9443879 PMID:9777763 PMID:15486090 PMID:16199547 More...

NCBI chr10:44,703,720...44,784,948

G

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism

PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 More...

NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496

G

growth hormone receptor

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

G

insulin like growth factor 1

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

NADH:ubiquinone oxidoreductase complex assembly factor 2

ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism

PMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:24033266 More...

NCBI chr 5:52,843,931...53,053,671

G

XPA, DNA damage recognition and repair factor

NCBI chr 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254

Cockayne syndrome A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DEP domain containing 1B

ClinVar Annotator: match by term: Cockayne syndrome type 1

NCBI chr 5:53,300,423...53,406,947
Ensembl chr 5:54,951,596...55,045,820

G

ELOVL fatty acid elongase 7

ClinVar Annotator: match by term: Cockayne syndrome type 1

NCBI chr 5:53,156,518...53,248,839
Ensembl chr 5:54,853,330...54,888,930

G

ERCC excision repair 6, chromatin remodeling factor

ClinVar Annotator: match by term: Cockayne syndrome type I

PMID:18628313 PMID:25741868 PMID:27004399 PMID:28492532 PMID:29572252

NCBI chr10:44,703,720...44,784,948

G

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type I | ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type A | ClinVar Annotator: match by term: ERCC8-related condition

PMID:7664335 PMID:9338586 PMID:9536098 PMID:11814058 PMID:14661080 More...

NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496

G

NADH:ubiquinone oxidoreductase complex assembly factor 2

ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type A

PMID:14661080 PMID:15744458 PMID:18180188 PMID:19329487 PMID:19384974 More...

NCBI chr 5:52,843,931...53,053,671

Cockayne syndrome B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ArfGAP with GTPase domain, ankyrin repeat and PH domain 6

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:44,228,019...44,251,025

G

Rho GTPase activating protein 22

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:45,589,509...45,833,137

G

chromosome 8 C10orf53 homolog

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:44,544,269...44,563,335

G

chromosome 8 C10orf71 homolog

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:44,916,625...44,945,094

G

choline O-acetyltransferase

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:44,574,925...44,629,618

G

dorsal root ganglia homeobox

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:44,845,622...44,880,512

G

ERCC excision repair 6, chromatin remodeling factor

ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B

PMID:887325 PMID:1339317 PMID:7063265 PMID:7264357 PMID:9150142 More...

NCBI chr10:44,703,720...44,784,948

G

family with sequence similarity 170 member B

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:45,110,158...45,113,019

G

FERM and PDZ domain containing 2

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:45,968,125...46,094,690

G

putative inactive neutral ceramidase B

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:46,842,830...46,908,811
Ensembl chr10:48,969,434...49,025,336

G

leucine rich repeat containing 18

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:45,309,911...45,331,912

G

mitogen-activated protein kinase 8

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:45,806,748...45,936,362

G

microseminoprotein beta

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:43,187,155...43,200,150
Ensembl chr10:46,449,079...46,464,007

G

nuclear receptor coactivator 4

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:43,159,014...43,184,558
Ensembl chr10:46,420,952...46,443,223

G

oxoglutarate dehydrogenase L

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:44,476,006...44,504,578

G

poly(ADP-ribose) glycohydrolase

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:44,290,391...44,420,184

G

sphingomyelin synthase 1

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:46,960,159...47,273,353
Ensembl chr10:49,076,984...49,116,154

G

solute carrier family 18 member A3

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:44,630,006...44,632,419

G

translocase of inner mitochondrial membrane 23

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:43,123,802...43,157,666

G

transmembrane protein 273

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:45,055,745...45,089,448

G

V-set and transmembrane domain containing 4

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:45,128,625...45,240,558

G

WDFY family member 4

ClinVar Annotator: match by term: Cockayne Syndrome, Type II

PMID:25741868 PMID:38177409

NCBI chr10:45,262,213...45,560,401

combined or isolated pituitary growth hormone deficiency 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA binding region (RNP1, RRM) containing 3

ClinVar Annotator: match by term: Isolated growth hormone deficiency, type 5

PMID:24480542 PMID:25741868 PMID:29255062 PMID:32462814 PMID:33650182

NCBI chr 1:106,189,351...106,219,302
Ensembl chr 1:105,323,791...105,349,892

congenital hypothyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 2/3 complex subunit 5

protein:decreased expression:frontal cortex (rat)

NCBI chr 1:159,156,229...159,165,898
Ensembl chr 1:163,311,111...163,323,554

G

ATP synthase peripheral stalk subunit d

protein:altered expression:cerebral cortex (rat)

NCBI chr17:68,986,362...68,994,246
Ensembl chr17:74,541,363...74,549,700

G

bone gamma-carboxyglutamate protein

mRNA,protein:decreased expression:skull, serum

NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432

G

dual oxidase 2

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:12110737 PMID:16199547 PMID:16322276 PMID:16608528 PMID:17121535 More...

NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281

G

dual oxidase maturation factor 2

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:25741868 PMID:28492532 PMID:31980526 PMID:33651715 PMID:33692749

NCBI chr15:24,061,922...24,066,016
Ensembl chr15:42,415,195...42,418,974

G

early growth response 1

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

G

Fos proto-oncogene, AP-1 transcription factor subunit

mRNA:decreased expression:hippocampus

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

G

forkhead box E1

NCBI chr 9:68,943,747...68,947,226

G

glucose-6-phosphate dehydrogenase

protein:decreased expression:hippocampus

NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674

G

growth hormone receptor

treatment

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

G

insulin like growth factor 1

protein:decreased expression:serum (rat)

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

immunoglobulin superfamily member 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:120,406,725...120,422,636
Ensembl chr X:130,714,061...130,729,963

G

inhibin subunit beta B

mRNA:decreased expression:testes (rat)

NCBI chr2B:7,278,944...7,284,632

G

iodotyrosine deiodinase

ClinVar Annotator: match by term: Congenital hypothyroidism

NCBI chr 6:148,178,638...148,216,122
Ensembl chr 6:152,886,373...152,922,152

G

somatotropin

treatment

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

neurofilament heavy chain

protein:decreased expression, increased phosphorylation

NCBI chr22:10,525,738...10,536,788

G

neurofilament light chain

protein:decreased expression, increased phosphorylation

NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694

G

neurofilament medium chain

protein:decreased expression, increased phosphorylation

NCBI chr 8:24,181,335...24,186,701
Ensembl chr 8:21,098,005...21,107,468

G

nerve growth factor receptor

treatment

NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966

G

paired box 8

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:16763387 PMID:25146893 PMID:26362610

NCBI chr2A:88,845,877...88,905,266
Ensembl chr2A:114,162,110...114,222,865

G

PPARG coactivator 1 alpha

mRNA:decreased expression:cerebellum (rat)

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

RUNX family transcription factor 2

NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Congenital hypothyroidism

NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637

G

solute carrier family 26 member 7

ClinVar Annotator: match by term: Congenital hypothyroidism

NCBI chr 8:87,908,807...88,057,623
Ensembl chr 8:89,861,279...90,009,899

G

solute carrier family 5 member 5

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:3998954 PMID:10487695 PMID:25741868 PMID:28492532 PMID:30240412 More...

NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

G

thyroglobulin

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10404833 More...

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

G

thyroid peroxidase

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:25741868 PMID:28492532

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

G

thyrotropin releasing hormone receptor

NCBI chr 8:105,739,651...105,780,470
Ensembl chr 8:107,886,593...107,918,825

G

thyroid stimulating hormone subunit beta

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:25741868 PMID:28492532

NCBI chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:11442002 PMID:15693879 PMID:16756469 PMID:17526952 PMID:19158199 More...

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

G

tubulin beta 1 class VI

ClinVar Annotator: match by term: Congenital hypothyroidism

PMID:25741868 PMID:28492532 PMID:28983057 PMID:30446499 PMID:32757236 More...

NCBI chr20:55,370,122...55,377,616
Ensembl chr20:56,730,882...56,738,741

Congenital Nongoitrous Hypothyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 128

ClinVar Annotator: match by term: TSH RESISTANCE

PMID:1955520 PMID:8954020 PMID:8964822 PMID:9385128 PMID:10037069 More...

NCBI chr14:61,057,348...61,505,022
Ensembl chr14:80,257,872...80,679,447

G

immunoglobulin superfamily member 1

ClinVar Annotator: match by term: TSH RESISTANCE

PMID:25741868 PMID:28492532

NCBI chr X:120,406,725...120,422,636
Ensembl chr X:130,714,061...130,729,963

G

thyroid peroxidase

ClinVar Annotator: match by term: TSH RESISTANCE

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE

PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More...

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

congenital nongoitrous hypothyroidism 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 128

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1

PMID:1955520 PMID:8954020 PMID:8964822 PMID:9385128 PMID:10037069 More...

NCBI chr14:61,057,348...61,505,022
Ensembl chr14:80,257,872...80,679,447

G

immunoglobulin superfamily member 1

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1

PMID:25741868 PMID:28492532

NCBI chr X:120,406,725...120,422,636
Ensembl chr X:130,714,061...130,729,963

G

thyroid peroxidase

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

G

thyroid stimulating hormone receptor

ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1

PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More...

NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890

congenital nongoitrous hypothyroidism 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box protein 31

ClinVar Annotator: match by term: Ectopic thyroid

PMID:32989326 PMID:33675180

NCBI chr16:67,997,481...68,053,081
Ensembl chr16:87,322,364...87,377,104

G

paired box 8

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 | ClinVar Annotator: match by term: PAX8-related condition

PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 More...

NCBI chr2A:88,845,877...88,905,266
Ensembl chr2A:114,162,110...114,222,865

G

transcription termination factor 1

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2

NCBI chr 9:103,495,737...103,525,775
Ensembl chr 9:132,129,318...132,158,660

congenital nongoitrous hypothyroidism 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid stimulating hormone subunit beta

ClinVar Annotator: match by term: Pituitary cretinism | ClinVar Annotator: match by term: TSHB-related condition | ClinVar Annotator: match by term: Thyroid-stimulating hormone, deficiency of

PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More...

NCBI chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028

congenital nongoitrous hypothyroidism 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NK2 homeobox 5

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5

PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More...

NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514

congenital nongoitrous hypothyroidism 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear receptor subfamily 1 group D member 1

ClinVar Annotator: match by term: Congenital nongoitrous hypothyroidism 6

PMID:11075809 PMID:25741868 PMID:34008892

NCBI chr17:17,188,390...17,196,315
Ensembl chr17:17,409,669...17,417,600

G

thyroid hormone receptor alpha

ClinVar Annotator: match by term: Congenital nongoitrous hypothyroidism 6 | ClinVar Annotator: match by term: THRA-related condition

PMID:7501015 PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 More...

NCBI chr17:17,196,459...17,226,263

congenital nongoitrous hypothyroidism 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyrotropin releasing hormone receptor

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7 | ClinVar Annotator: match by term: TRHR-related condition

PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241 More...

NCBI chr 8:105,739,651...105,780,470
Ensembl chr 8:107,886,593...107,918,825

congenital nongoitrous hypothyroidism 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transducin beta like 1 X-linked

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 | ClinVar Annotator: match by term: TBL1X-related condition

PMID:25741868 PMID:27603907 PMID:28492532 PMID:30591955

NCBI chr X:2,096,684...2,352,951
Ensembl chr X:9,525,194...9,604,290

congenital nongoitrous hypothyroidism 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin receptor substrate 4

ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9

PMID:25741868 PMID:30061370

NCBI chr X:97,818,895...97,835,986
Ensembl chr X:108,202,208...108,205,821

De Sanctis-Cacchione syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 6, chromatin remodeling factor

ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME

PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More...

NCBI chr10:44,703,720...44,784,948

Desbuquois dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium activated nucleotidase 1

ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION

PMID:19853239 PMID:25741868 PMID:28492532

NCBI chr17:73,068,196...73,086,900
Ensembl chr17:78,614,244...78,618,317

G

xylosyltransferase 1

ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION

PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532

NCBI chr16:20,078,904...20,447,268
Ensembl chr16:17,222,447...17,470,818

Desbuquois Dysplasia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 1 (ABCC1 blood group)

ClinVar Annotator: match by term: Desbuquois dysplasia 1

PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721

G

calcium activated nucleotidase 1

ClinVar Annotator: match by term: CANT1-related condition | ClinVar Annotator: match by term: Desbuquois dysplasia 1

PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More...

NCBI chr17:73,068,196...73,086,900
Ensembl chr17:78,614,244...78,618,317

G

centrosomal protein 20

ClinVar Annotator: match by term: Desbuquois dysplasia 1

PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721

G

myosin heavy chain 11

ClinVar Annotator: match by term: Desbuquois dysplasia 1

PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721

Ensembl chr16:16,007,168...16,091,058

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: Desbuquois dysplasia 1

PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721

Ensembl chr16:15,948,881...16,027,986

G

xylosyltransferase 1

ClinVar Annotator: match by term: Desbuquois dysplasia 1

PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More...

NCBI chr16:20,078,904...20,447,268
Ensembl chr16:17,222,447...17,470,818

Desbuquois Dysplasia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

xylosyltransferase 1

ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2

PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More...

NCBI chr16:20,078,904...20,447,268
Ensembl chr16:17,222,447...17,470,818

Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mesencephalic astrocyte derived neurotrophic factor

ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome

PMID:26077850 PMID:33500254

NCBI chr 3:51,315,948...51,320,022
Ensembl chr 3:52,548,933...52,554,343

diastrophic dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia | ClinVar Annotator: match by term: Sulfate transporter-related osteochondrodysplasia

PMID:702237 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 More...

NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 2

ClinVar Annotator: match by term: Diastrophic dysplasia, broad bone-platyspondylic variant

PMID:702237 PMID:8723083 PMID:10466420 PMID:12220459 PMID:20301524

NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676

diphthamide deficiency syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diphthamide biosynthesis 1

ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair

PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32595695 More...

NCBI chr17:2,020,163...2,035,044
Ensembl chr17:1,908,248...1,923,094

G

diphthamide biosynthesis 2

ClinVar Annotator: match by term: diphthamide-deficiency syndrome

PMID:25741868 PMID:27421267 PMID:32576952

NCBI chr 1:43,271,349...43,275,162
Ensembl chr 1:44,643,142...44,646,545

G

eukaryotic translation elongation factor 2

ClinVar Annotator: match by term: EEF2-related condition

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:3,000,608...3,009,918
Ensembl chr19:3,950,772...3,960,172

diphthamide deficiency syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diphthamide biosynthesis 1

ClinVar Annotator: match by term: DPH1-related condition | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1

PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More...

NCBI chr17:2,020,163...2,035,044
Ensembl chr17:1,908,248...1,923,094

diphthamide deficiency syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diphthamide biosynthesis 2

ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2

PMID:25741868 PMID:27421267 PMID:32576952

NCBI chr 1:43,271,349...43,275,162
Ensembl chr 1:44,643,142...44,646,545

Dyggve-Melchior-Clausen disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dymeclin

ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome

PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 More...

NCBI chr18:42,427,493...42,842,450
Ensembl chr18:45,783,379...46,162,835

ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

grainyhead like transcription factor 2

ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome

PMID:24033266 PMID:25152456 PMID:25741868 PMID:28492532

NCBI chr 8:98,129,147...98,308,120
Ensembl chr 8:100,308,575...100,471,830

familial thyroid dyshormonogenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dual oxidase 2

ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis

PMID:12110737 PMID:16199547 PMID:16322276 PMID:18765513 PMID:20972728 More...

NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281

G

solute carrier family 5 member 5

ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect

NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

G

thyroglobulin

ClinVar Annotator: match by term: Thyroid dyshormonogenesis

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

fibrochondrogenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 1 chain

ClinVar Annotator: match by term: Fibrochondrogenesis

PMID:21035103 PMID:23922384 PMID:28492532

NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259

G

collagen type XI alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635

fibrochondrogenesis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 1 chain

susceptibility

ClinVar Annotator: match by term: Fibrochondrogenesis 1

PMID:9536098 PMID:10486316 PMID:17236192 PMID:17576681 PMID:17999364 More...

NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Fibrochondrogenesis 1

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635

fibrochondrogenesis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Fibrochondrogenesis 2

PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:16033917 More...

NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635

fibular hypoplasia and complex brachydactyly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 2

ClinVar Annotator: match by term: Du pan syndrome

PMID:228900 PMID:258150

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

growth differentiation factor 5

ClinVar Annotator: match by term: Acromesomelic dysplasia 2B | ClinVar Annotator: match by term: Du pan syndrome

PMID:12121354 PMID:16014698 PMID:16127465 PMID:17384641 PMID:18629880 More...

NCBI chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899

GARG-MISHRA PROGEROID SYNDROME

term browser

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Object Name

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PubMed Reference(s)

RGD Reference(s)

Position

G

translocase of outer mitochondrial membrane 7

ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome

PMID:36282599 PMID:36299998

NCBI chr 7:23,501,438...23,511,321
Ensembl chr 7:23,112,630...23,122,195

geroderma osteodysplasticum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

golgin, RAB6 interacting

ClinVar Annotator: match by term: GORAB-related condition | ClinVar Annotator: match by term: Geroderma osteodysplastica

PMID:631850 PMID:18997784 PMID:19681135 PMID:25741868 PMID:28492532 More...

NCBI chr 1:146,020,446...146,042,334
Ensembl chr 1:149,736,641...149,758,010

growth hormone insensitivity syndrome with immune dysregulation 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caveolae associated protein 1

ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

NCBI chr17:14,892,936...14,914,017
Ensembl chr17:15,117,091...15,139,223

G

ERCC excision repair 6 like 2

ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

NCBI chr 9:66,967,399...67,153,934
Ensembl chr 9:95,092,512...95,183,122

G

signal transducer and activator of transcription 5A

ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783

G

signal transducer and activator of transcription 5B

ClinVar Annotator: match by term: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

PMID:9536098 PMID:13679528 PMID:15827093 PMID:16199547 PMID:16464942 More...

NCBI chr17:15,040,303...15,116,682
Ensembl chr17:15,306,418...15,336,463

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

growth hormone insensitivity syndrome with immune dysregulation 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 5B

ClinVar Annotator: match by term: Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant

PMID:25741868 PMID:28492532 PMID:29844444 PMID:31690038 PMID:31902742

NCBI chr17:15,040,303...15,116,682
Ensembl chr17:15,306,418...15,336,463

Growth Hormone Insensitivity with Immune Dysregulation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 5B

ClinVar Annotator: match by term: Growth hormone insensitivity syndrome with immune dysregulation

PMID:25741868 PMID:28492532

NCBI chr17:15,040,303...15,116,682
Ensembl chr17:15,306,418...15,336,463

Growth Retardation, Developmental Delay, Coarse Facies, and Early Death

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FTO alpha-ketoglutarate dependent dioxygenase

ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death

PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 More...

NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231

G

RPGRIP1 like

ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death

PMID:25741868 PMID:28492532

NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174

hypochondroplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Hypochondroplasia

PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

Idiopathic Short Stature, Autosomal

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth hormone receptor

ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial | ClinVar Annotator: match by term: Short stature, idiopathic, autosomal

PMID:1999489 PMID:7565946 PMID:8488849 PMID:8504296 PMID:9140387 More...

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

G

growth hormone secretagogue receptor

ClinVar Annotator: match by term: Short stature, idiopathic, autosomal

NCBI chr 3:169,448,217...169,458,602
Ensembl chr 3:177,633,039...177,638,202

G

insulin like growth factor binding protein acid labile subunit

DNA:missense mutation:exon:p.L127P (c.380T>C) (human)

NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442

G

sperm associated antigen 17

DNA:snp:enhancer:C>G (rs17038182) (human)

NCBI chr 1:84,339,906...84,571,723

intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pseudouridine synthase 7

ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | ClinVar Annotator: match by term: PUS7-related condition

PMID:25741868 PMID:28492532 PMID:30526862 PMID:30778726 PMID:35144859

NCBI chr 7:97,447,332...97,512,812
Ensembl chr 7:110,177,284...110,243,923

intellectual developmental disorder with short stature and behavioral abnormalities

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

IQ motif and Sec7 domain ArfGEF 1

ClinVar Annotator: match by term: IQSEC1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and behavioral abnormalities

PMID:25741868 PMID:28492532 PMID:31607425

NCBI chr 3:12,820,552...13,202,925
Ensembl chr 3:13,167,299...13,235,285

INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box and leucine rich repeat protein 3

ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations

PMID:11477608 PMID:25741868 PMID:30481285

NCBI chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651

isolated growth hormone deficiency

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activity dependent neuroprotector homeobox

ClinVar Annotator: match by term: Growth hormone deficiency

PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More...

NCBI chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387

G

growth hormone receptor

Laron syndrome,OMIM:262500;DNA:deletion

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

G

growth hormone releasing hormone receptor

ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency

NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200

G

growth hormone secretagogue receptor

mRNA:increased expression:pituitary:

NCBI chr 3:169,448,217...169,458,602
Ensembl chr 3:177,633,039...177,638,202

G

hippocalcin

protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse)

NCBI chr 1:32,176,465...32,185,133
Ensembl chr 1:33,363,673...33,371,524

G

insulin like growth factor binding protein acid labile subunit

protein:decreased expression:serum

NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442

G

somatotropin

ClinVar Annotator: match by term: Growth hormone deficiency | ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency

PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:16741161 More...

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

POU class 1 homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:87,390,157...87,407,611
Ensembl chr 3:89,501,298...89,521,168

G

RNA binding region (RNP1, RRM) containing 3

ClinVar Annotator: match by term: Growth hormone deficiency

PMID:24480542 PMID:29255062

NCBI chr 1:106,189,351...106,219,302
Ensembl chr 1:105,323,791...105,349,892

G

thyroglobulin

PMID:3366187 PMID:11089535

RGD:12880373 RGD:730133

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

isolated growth hormone deficiency type IA

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive

PMID:24389050 PMID:25558065

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

CXXC repeat containing interactor of PDZ3 domain

ClinVar Annotator: match by term: Pituitary dwarfism 1

PMID:24389050 PMID:25558065

NCBI chr2A:46,732,683...46,740,589
Ensembl chr2A:47,663,304...47,671,463

G

growth hormone releasing hormone

OMIM:262400

NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240

G

growth hormone releasing hormone receptor

ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B

PMID:10944436 PMID:10946881 PMID:11298081 PMID:11502843 PMID:12163232 More...

NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200

G

somatotropin

ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1

PMID:2347891 PMID:8364549 PMID:8496314 PMID:8530604 PMID:10372722 More...

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

POC1 centriolar protein A

ClinVar Annotator: match by term: Pituitary dwarfism 1

PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 More...

NCBI chr 3:52,016,372...52,096,073
Ensembl chr 3:53,245,162...53,324,579

G

X-ray repair cross complementing 4

ClinVar Annotator: match by term: Pituitary dwarfism 1

PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102

NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490

isolated growth hormone deficiency type IB

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth hormone releasing hormone receptor

ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: GHRHR-related condition | ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB

PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 More...

NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200

G

somatotropin

ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Idiopathic growth hormone deficiency | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB

PMID:8496314 PMID:8530604 PMID:9385381 PMID:10372722 PMID:10445339 More...

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

isolated growth hormone deficiency type II

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

somatotropin

ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant

PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More...

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

mediator complex subunit 13

ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant

NCBI chr17:56,044,769...56,165,922
Ensembl chr17:61,157,691...61,274,505

isolated growth hormone deficiency type III

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ARF like GTPase 13A

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,173,938...90,188,922
Ensembl chr X:100,310,188...100,329,374

G

armadillo repeat containing X-linked 1

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,750,878...90,755,066

G

armadillo repeat containing X-linked 2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,855,629...90,860,260

G

armadillo repeat containing X-linked 3

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,823,379...90,828,094

G

armadillo repeat containing X-linked 4

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,683,100...90,735,935
Ensembl chr X:100,818,769...100,825,467

G

armadillo repeat containing X-linked 6

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,815,392...90,818,297
Ensembl chr X:100,944,769...100,945,671

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: BTK-related condition | ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 More...

NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187

G

centromere protein I

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,299,867...90,366,294
Ensembl chr X:100,438,622...100,501,041

G

cleavage stimulation factor subunit 2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,023,054...90,046,229
Ensembl chr X:100,161,749...100,182,304

G

dystrophin related protein 2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,422,483...90,467,610
Ensembl chr X:100,558,208...100,603,233

G

galactosidase alpha

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More...

NCBI chr X:90,600,412...90,610,594
Ensembl chr X:100,732,311...100,742,280

G

heterogeneous nuclear ribonucleoprotein H2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More...

NCBI chr X:90,610,742...90,616,726

G

nuclear RNA export factor 2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:91,029,232...91,040,710

G

NADPH oxidase 1

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,046,023...90,076,968
Ensembl chr X:100,182,398...100,215,192

G

protocadherin 19

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:89,504,404...89,622,354
Ensembl chr X:99,643,595...99,759,631

G

ribosomal protein L36a

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More...

NCBI chr X:90,593,495...90,598,380
Ensembl chr X:100,725,528...100,730,505

G

sushi repeat containing protein X-linked 2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:89,854,389...89,886,776
Ensembl chr X:99,994,560...100,021,241

G

synaptotagmin like 4

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:89,885,478...89,941,381
Ensembl chr X:100,024,434...100,051,663

G

TATA-box binding protein associated factor 7 like

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,471,354...90,496,618
Ensembl chr X:100,607,488...100,631,301

G

translocase of inner mitochondrial membrane 8A

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More...

NCBI chr X:90,548,212...90,551,534
Ensembl chr X:100,680,224...100,683,544

G

transmembrane protein 35A

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,280,549...90,298,080
Ensembl chr X:100,415,789...100,432,897

G

tenomodulin

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:89,795,752...89,810,791
Ensembl chr X:99,935,207...99,950,283

G

tRNA methyltransferase 2 homolog B

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,210,740...90,253,863
Ensembl chr X:100,347,795...100,389,981

G

tetraspanin 6

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:89,840,067...89,848,114
Ensembl chr X:99,979,171...99,987,402

G

XK related X-linked

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:90,116,066...90,132,075
Ensembl chr X:100,254,293...100,270,253

Isolated Growth Hormone Deficiency, Partial

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth hormone receptor

ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency

PMID:1999489 PMID:7565946 PMID:8488849 PMID:8504296 PMID:9140387 More...

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

G

growth hormone secretagogue receptor

ClinVar Annotator: match by term: GHSR-related condition | ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency

PMID:14715843 PMID:16511605 PMID:17596538 PMID:17717076 PMID:19789204 More...

NCBI chr 3:169,448,217...169,458,602
Ensembl chr 3:177,633,039...177,638,202

JOINT LAXITY, SHORT STATURE, AND MYOPIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GDNF inducible zinc finger protein 1

ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia

PMID:25741868 PMID:28475863 PMID:28492532 PMID:35802133 PMID:36633841

NCBI chr20:23,302,958...23,316,469
Ensembl chr20:23,655,293...23,665,989

Juberg Hayward Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

establishment of sister chromatid cohesion N-acetyltransferase 2

ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Juberg-Hayward syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome

PMID:1642282 PMID:15821733 PMID:16380922 PMID:18411254 PMID:18414213 More...

NCBI chr 8:27,049,858...27,080,396
Ensembl chr 8:24,251,557...24,284,001

G

filamin A

ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome
ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome

PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More...

NCBI chr X:143,799,088...143,825,282

G

host cell factor C1

ClinVar Annotator: match by term: Cranio-oro-digital syndrome

PMID:15689435 PMID:16080119 PMID:28492532

NCBI chr X:143,502,159...143,526,418
Ensembl chr X:153,389,859...153,412,999

G

interleukin 1 receptor associated kinase 1

ClinVar Annotator: match by term: Cranio-oro-digital syndrome

PMID:15689435 PMID:16080119 PMID:28492532

NCBI chr X:143,560,802...143,570,185
Ensembl chr X:153,446,827...153,460,602

G

methyl-CpG binding protein 2

ClinVar Annotator: match by term: Cranio-oro-digital syndrome

PMID:15689435 PMID:16080119 PMID:28492532

NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854

G

N-alpha-acetyltransferase 10, NatA catalytic subunit

ClinVar Annotator: match by term: Cranio-oro-digital syndrome

PMID:15689435 PMID:16080119 PMID:28492532

NCBI chr X:143,484,008...143,489,904

G

renin binding protein

ClinVar Annotator: match by term: Cranio-oro-digital syndrome

PMID:15689435 PMID:16080119 PMID:28492532

NCBI chr X:143,490,103...143,499,487
Ensembl chr X:153,376,847...153,386,214

G

testis expressed 28

ClinVar Annotator: match by term: Cranio-oro-digital syndrome

PMID:15689435 PMID:16080119 PMID:28492532

NCBI chr X:143,711,495...143,736,128

G

transketolase like 1

ClinVar Annotator: match by term: Cranio-oro-digital syndrome

PMID:15689435 PMID:16080119 PMID:28492532

NCBI chr X:143,736,589...143,772,277

G

transmembrane protein 187

ClinVar Annotator: match by term: Cranio-oro-digital syndrome

PMID:15689435 PMID:16080119 PMID:28492532

NCBI chr X:143,527,152...143,533,708
Ensembl chr X:153,419,802...153,420,587

Kenny-Caffey syndrome type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM111 trypsin like peptidase A

ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome | ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia

PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More...

NCBI chr11:54,359,711...54,372,132
Ensembl chr11:57,818,413...57,823,046

G

tubulin folding cofactor E

CTD Direct Evidence: marker/mechanism

NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613

Kniest dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Kniest dysplasia

PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More...

NCBI chr12:40,726,137...40,757,690

Kowarski Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

somatotropin

ClinVar Annotator: match by term: Kowarski syndrome | ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin

PMID:8530604 PMID:8552145 PMID:9276733 PMID:10372722 PMID:10445339 More...

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

Laron syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth hormone receptor

ClinVar Annotator: match by term: Growth hormone insensitivity syndrome | ClinVar Annotator: match by term: Laron dwarfism | ClinVar Annotator: match by term: Laron syndrome with elevated serum GH-binding protein | ClinVar Annotator: match by term: Laron syndrome with undetectable serum GH-binding protein | ClinVar Annotator: match by term: Laron-type isolated somatotropin defect

PMID:1284474 PMID:1719554 PMID:1999489 PMID:2233903 PMID:2779634 More...

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

G

insulin like growth factor 1

protein:decreased expression:serum:

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

Lessel-Kubisch Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MDM2 proto-oncogene

ClinVar Annotator: match by term: Lessel-kubisch syndrome | ClinVar Annotator: match by term: MDM2-related condition

PMID:25741868 PMID:28492532 PMID:28846075

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

metatropic dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel subfamily V member 4

ClinVar Annotator: match by term: METATROPIC DWARFISM | ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia

PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More...

NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182

Microcephalic Osteodysplastic Primordial Dwarfism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pericentrin

ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990

microcephalic osteodysplastic primordial dwarfism type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytoplasmic linker associated protein 1

ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 | ClinVar Annotator: match by term: Taybi Linder syndrome

PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 More...

NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793

G

myosin-7

ClinVar Annotator: match by term: Brachymelic primordial dwarfism

PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More...

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

G

myosin heavy chain 11

ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I

PMID:25741868 PMID:28492532

Ensembl chr16:16,007,168...16,091,058

G

ryanodine receptor 2

ClinVar Annotator: match by term: MOPD I
ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I

PMID:25351510 PMID:25741868 PMID:26743238 PMID:28237968 PMID:28492532 More...

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

microcephalic osteodysplastic primordial dwarfism type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pericentrin

ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities | ClinVar Annotator: match by term: OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | ClinVar Annotator: match by term: PCNT-related condition

PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More...

NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990

Microcephalic Osteodysplastic Primordial Dwarfism, Type III

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytoplasmic linker associated protein 1

ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE | ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III

PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:24865609 More...

NCBI chr2B:8,265,626...8,574,282
Ensembl chr2B:121,840,484...122,102,793

G

myosin heavy chain 11

ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE

PMID:25741868 PMID:28492532

Ensembl chr16:16,007,168...16,091,058

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE

PMID:25741868 PMID:28492532

Ensembl chr16:15,948,881...16,027,986

G

ryanodine receptor 2

ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE

PMID:25351510 PMID:25741868 PMID:28237968 PMID:28492532 PMID:31195250 More...

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tRNA methyltransferase 10A

ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 | ClinVar Annotator: match by term: TRMT10A-related condition

PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 More...

NCBI chr 4:91,970,440...91,987,722
Ensembl chr 4:102,631,501...102,648,454

Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein phosphatase 1 regulatory subunit 15B

ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 | ClinVar Annotator: match by term: PPP1R15B-related condition

PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532

NCBI chr 1:180,002,895...180,014,956
Ensembl chr 1:184,293,640...184,302,316

Microcephaly, Short Stature, and Polymicrogyria with or without Seizures

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

rotatin

ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More...

NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104

Mosaic Variegated Aneuploidy Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

structural maintenance of chromosomes 5

ClinVar Annotator: match by term: Atelis syndrome 2

NCBI chr 9:54,446,863...54,543,249

mulibrey nanism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

patatin like domain 7, lysophospholipase

ClinVar Annotator: match by term: Mulibrey nanism syndrome

NCBI chr 9:108,531,917...108,631,119
Ensembl chr 9:137,496,924...137,593,154

G

protein phosphatase, Mg2+/Mn2+ dependent 1E

ClinVar Annotator: match by term: Mulibrey nanism syndrome

NCBI chr17:52,832,291...53,057,157
Ensembl chr17:57,874,629...57,903,205

G

proline rich 11

ClinVar Annotator: match by term: Mulibrey nanism syndrome

NCBI chr17:53,227,110...53,275,377
Ensembl chr17:58,076,210...58,122,353

G

spindle and kinetochore associated complex subunit 2

ClinVar Annotator: match by term: Mulibrey nanism syndrome

NCBI chr17:53,181,345...53,226,761
Ensembl chr17:58,030,137...58,076,113

G

tripartite motif containing 37

ClinVar Annotator: match by term: Mulibrey nanism syndrome | ClinVar Annotator: match by term: TRIM37-related condition

PMID:9536098 PMID:10888877 PMID:12754710 PMID:15108285 PMID:15885686 More...

NCBI chr17:53,070,235...53,178,209
Ensembl chr17:57,904,813...58,027,100

G

transient receptor potential cation channel subfamily M member 3

ClinVar Annotator: match by term: Perheentupa syndrome

PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32427099 More...

NCBI chr 9:53,367,505...54,272,917
Ensembl chr 9:69,292,593...69,606,949

neonatal diabetes mellitus with congenital hypothyroidism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GLIS family zinc finger 3

ClinVar Annotator: match by term: GLIS3-related condition | ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism

PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 More...

NCBI chr 9:3,633,416...4,125,420
Ensembl chr 9:3,827,712...4,300,658

neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diphthamide biosynthesis 5

ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

PMID:25741868 PMID:35482014

NCBI chr 1:103,646,182...103,682,551
Ensembl chr 1:102,358,882...102,394,816

G

solute carrier family 30 member 7

ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

PMID:25741868 PMID:35482014

NCBI chr 1:103,552,661...103,636,019

Ohdo syndrome, SBBYS variant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Mental retardation unusual facies hypothyroidism | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson syndrome | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome

PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More...

NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome

NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409

G

ubiquitin protein ligase E3B

ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome

NCBI chr12:107,054,219...107,113,444
Ensembl chr12:110,455,011...110,506,216

Oliver-McFarlane syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

patatin like domain 6, lysophospholipase

ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More...

NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241

otospondylomegaepiphyseal dysplasia, autosomal recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive

PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 More...

NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive

PMID:25326635 PMID:25741868

NCBI chr12:40,726,137...40,757,690

parastremmatic dwarfism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel subfamily V member 4

ClinVar Annotator: match by term: Parastremmatic dwarfism

PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More...

NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182

Pendred syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 9

ClinVar Annotator: match by term: Pendred syndrome

PMID:30311386 PMID:35802133 PMID:36633841

NCBI chr16:1,953,439...1,956,349
Ensembl chr16:3,127,610...3,128,263

G

diaphanous related formin 1

ClinVar Annotator: match by term: Pendred syndrome

NCBI chr 5:136,876,396...136,980,097

G

forkhead box I1

ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome

PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386

NCBI chr 5:165,468,600...165,473,088
Ensembl chr 5:172,228,840...172,232,692

G

potassium inwardly rectifying channel subfamily J member 10

ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome

PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More...

NCBI chr 1:135,391,321...135,424,100

G

myosin VIIA

ClinVar Annotator: match by term: Pendred syndrome

PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709

NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752

G

otoferlin

ClinVar Annotator: match by term: Pendred syndrome

NCBI chr2A:26,454,010...26,555,642
Ensembl chr2A:26,546,959...26,647,278

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: Pendred's syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition | ClinVar Annotator: match by term: THYROID DYSHORMONOGENESIS 2B

PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More...

NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637

PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA primase subunit 1

ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome

NCBI chr12:32,155,541...32,176,363
Ensembl chr12:32,408,929...32,428,734

pseudoachondroplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cartilage oligomeric matrix protein

ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

PMID:7670471 PMID:7670472 PMID:9463320 PMID:9632164 PMID:9756911 More...

NCBI chr19:18,222,270...18,230,936
Ensembl chr19:19,229,562...19,238,008

rapadilino syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RecQ like helicase 4

ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome

PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More...

Ensembl chr 8:144,267,101...144,276,985

Robinow syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein axonemal assembly factor 4

NCBI chr15:34,382,064...34,469,432
Ensembl chr15:52,711,349...52,791,281

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities

PMID:25741868 PMID:28492532

NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008

G

dishevelled segment polarity protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:181,190,961...181,207,831
Ensembl chr 3:189,674,399...189,693,130

G

Wnt family member 5A

ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities | ClinVar Annotator: match by term: ROBINOW DWARFISM

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 3:55,396,279...55,418,579
Ensembl chr 3:56,621,380...56,638,051

SADDAN

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: SADDAN dysplasia | ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans

PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

Seckel syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATR serine/threonine kinase

susceptibility

ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1
DNA:point mutation:2101A>G (human)

OMIM
ClinVar
RGD

PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 More...

NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261

G

centrosomal protein 152

CTD Direct Evidence: marker/mechanism

NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233

G

centrosome assembly and centriole elongation protein

ClinVar Annotator: match by term: Seckel syndrome 1

PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532

NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432

G

pericentrin

CTD Direct Evidence: marker/mechanism

NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990

Seckel syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pericentrin

CTD Direct Evidence: marker/mechanism

NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990

G

RB binding protein 8, endonuclease

ClinVar Annotator: match by term: Seckel syndrome 2

PMID:11781686 PMID:16199547 PMID:18414213 PMID:24389050 PMID:25741868 More...

NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522

Seckel syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosome assembly and centriole elongation protein

ClinVar Annotator: match by term: CENPJ-related disorder | ClinVar Annotator: match by term: Seckel syndrome 4

PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 More...

NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432

G

ring finger protein 17

ClinVar Annotator: match by term: Seckel syndrome 4

PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 More...

NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945

Short Limb Dwarfism Al Gazali Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAMTS like 2

ClinVar Annotator: match by term: Lethal short-limb skeletal dysplasia, Al Gazali type

PMID:18677313 PMID:20301776 PMID:24251637 PMID:25741868 PMID:30195254

NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602

Short Stature and Microcephaly with Genital Anomalies

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centromere protein T

ClinVar Annotator: match by term: CENPT-related condition | ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies

PMID:25741868 PMID:28492532 PMID:29228025

NCBI chr16:48,169,892...48,177,559
Ensembl chr16:67,557,661...67,564,735

SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CXXC repeat containing interactor of PDZ3 domain

ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies

PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 PMID:31101064 More...

NCBI chr2A:46,732,683...46,740,589
Ensembl chr2A:47,663,304...47,671,463

G

phosphatidylinositol glycan anchor biosynthesis class F

ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies

NCBI chr2A:46,696,543...46,732,625
Ensembl chr2A:47,627,376...47,663,272

Short Stature with Nonspecific Skeletal Abnormalities 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1

PMID:15146390 PMID:15572448 PMID:16384845 PMID:18945719 PMID:22691581 More...

NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637

G

sperm associated antigen 8

ClinVar Annotator: match by term: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1

PMID:15146390 PMID:16384845 PMID:18945719 PMID:22691581 PMID:25741868 More...

NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112

SHORT STATURE, DAUBER-ARGENTE TYPE

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pappalysin 2

ClinVar Annotator: match by term: PAPPA2-related condition | ClinVar Annotator: match by term: Short stature, Dauber-Argente type

PMID:25741868 PMID:26902202 PMID:34272725

NCBI chr 1:151,727,598...152,369,670
Ensembl chr 1:155,769,395...156,063,989

Short Stature, Developmental Delay, and Congenital Heart Defects

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transketolase

ClinVar Annotator: match by term: TKT-related condition | ClinVar Annotator: match by term: Transketolase deficiency

PMID:25741868 PMID:27259054 PMID:28492532

NCBI chr 3:53,168,426...53,199,003
Ensembl chr 3:54,389,549...54,420,704

Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 2

ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies

PMID:25741868 PMID:28492532 PMID:29198724 PMID:32256301 PMID:34949530 More...

NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610

short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 2

ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1

PMID:21671386 PMID:25741868 PMID:28492532 PMID:29198724 PMID:32256301 More...

NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610

short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal peptide, CUB domain and EGF like domain containing 3

ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2

PMID:25741868 PMID:33308444

NCBI chr 6:34,776,605...34,815,808
Ensembl chr 6:35,872,590...35,911,272

short stature, hearing loss, retinitis pigmentosa, and distinctive facies

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

exosome component 2

ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies

PMID:14647208 PMID:15060126 PMID:16199547 PMID:24447024 PMID:25741868 More...

NCBI chr 9:101,815,368...101,826,464
Ensembl chr 9:130,464,487...130,475,719

SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

X-ray repair cross complementing 2

ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction

PMID:11118202 PMID:22232082 PMID:25741868 PMID:26046366 PMID:26845104 More...

NCBI chr 7:144,229,031...144,256,854
Ensembl chr 7:156,378,685...156,406,516

G

X-ray repair cross complementing 4

ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction | ClinVar Annotator: match by term: XRCC4-related condition

PMID:16199547 PMID:18695064 PMID:24033266 PMID:24389050 PMID:25558065 More...

NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490

SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA polymerase III subunit GL

ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay

PMID:25741868 PMID:31089205 PMID:31695177

NCBI chr 1:121,781,067...121,793,266
Ensembl chr 1:113,884,899...113,888,690

SHORT STATURE-MICROGNATHIA SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

archain 1

ClinVar Annotator: match by term: ARCN1-related condition | ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

PMID:25741868 PMID:27476655 PMID:28492532 PMID:31075182 PMID:33154040 More...

NCBI chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589

G

intraflagellar transport 46

ClinVar Annotator: match by term: ARCN1-related condition

NCBI chr11:113,382,150...113,404,866
Ensembl chr11:117,312,894...117,335,319

Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 7

ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency

NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445

Silver-Russell syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor XII

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

FLYWCH-type zinc finger 1

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr16:1,827,105...1,892,885
Ensembl chr16:3,027,656...3,064,557

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893

G

insulin like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

lectin, mannose binding 2

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,619,011...172,653,303
Ensembl chr 5:179,696,018...179,716,076

G

chorionic somatomammotropin hormone 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:57,978,002...57,979,708

G

MAX dimerization protein 3

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,609,158...172,615,345
Ensembl chr 5:179,673,135...179,677,842

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351

G

profilin 3

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,701,579...172,702,237
Ensembl chr 5:179,764,113...179,764,526

G

PLAG1 zinc finger

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 8:52,607,398...52,657,808
Ensembl chr 8:49,983,627...50,028,591

G

PRELI domain containing 1

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,605,767...172,608,901
Ensembl chr 5:179,669,885...179,672,965

G

RAB24, member RAS oncogene family

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,603,410...172,605,696
Ensembl chr 5:179,667,583...179,669,864

G

regulator of G protein signaling 14

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,659,323...172,674,084
Ensembl chr 5:179,721,876...179,739,453

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975

G

zinc finger protein 346

ClinVar Annotator: match by term: Russell-Silver syndrome

NCBI chr 5:172,321,875...172,386,462
Ensembl chr 5:179,390,239...179,449,071

Silver-Russell Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1C

ClinVar Annotator: match by term: Silver-Russell syndrome 1

PMID:24065356 PMID:24624461 PMID:28492532 PMID:31976094 PMID:33076988

NCBI chr11:2,908,537...2,911,134

G

delta like non-canonical Notch ligand 1

ClinVar Annotator: match by term: Silver-Russell syndrome 1

NCBI chr14:81,348,380...81,356,607
Ensembl chr14:100,654,965...100,668,019

G

high mobility group AT-hook 2

ClinVar Annotator: match by term: Silver-Russell syndrome 1

NCBI chr12:22,954,946...23,096,623

G

insulin like growth factor 2

ClinVar Annotator: match by term: Silver-Russell syndrome 1

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Silver-Russell syndrome 1

NCBI chr11:2,469,750...2,874,467

G

PLAG1 zinc finger

ClinVar Annotator: match by term: Silver-Russell syndrome 1

NCBI chr 8:52,607,398...52,657,808
Ensembl chr 8:49,983,627...50,028,591

Silver-Russell Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin like growth factor 2

ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3

PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:29073591 More...

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

Silver-Russell Syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PLAG1 zinc finger

ClinVar Annotator: match by term: PLAG1-related condition | ClinVar Annotator: match by term: Silver-russell syndrome 4

PMID:25741868 PMID:28796236

NCBI chr 8:52,607,398...52,657,808
Ensembl chr 8:49,983,627...50,028,591

Silver-Russell Syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

high mobility group AT-hook 2

ClinVar Annotator: match by term: HMGA2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 5

PMID:25741868 PMID:25809938 PMID:28492532 PMID:28796236 PMID:29453418

NCBI chr12:22,954,946...23,096,623

Silverman-Handmaker type dyssegmental dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: Dyssegmental Dysplasia | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan

PMID:25741868 PMID:28492532

NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400

G

plectin

ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin

NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433

SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chondroitin sulfate N-acetylgalactosaminyltransferase 1

ClinVar Annotator: match by term: CSGALNACT1-related condition | ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age

PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726

NCBI chr 8:18,626,998...18,980,416
Ensembl chr 8:15,576,416...15,904,123

Smith-McCort dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dymeclin

ClinVar Annotator: match by term: Smith-McCort dysplasia

PMID:25741868 PMID:28492532

NCBI chr18:42,427,493...42,842,450
Ensembl chr18:45,783,379...46,162,835

G

RAB33B, member RAS oncogene family

ClinVar Annotator: match by term: Smith-McCort dysplasia

NCBI chr 4:131,815,088...131,838,957
Ensembl chr 4:143,123,478...143,147,147

Smith-McCort dysplasia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dymeclin

ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: Smith-McCort dysplasia 1

PMID:12491225 PMID:16097008 PMID:18996921 PMID:19005420 PMID:25741868 More...

NCBI chr18:42,427,493...42,842,450
Ensembl chr18:45,783,379...46,162,835

Smith-McCort dysplasia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB33B, member RAS oncogene family

ClinVar Annotator: match by term: Smith-McCort dysplasia 2

PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 More...

NCBI chr 4:131,815,088...131,838,957
Ensembl chr 4:143,123,478...143,147,147

spondylometaepiphyseal dysplasia, short limb-hand type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

discoidin domain receptor tyrosine kinase 2

ClinVar Annotator: match by term: DDR2-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

PMID:8434618 PMID:8818447 PMID:11375938 PMID:19110212 PMID:20223752 More...

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

spondylometaphyseal dysplasia Megarbane-Dagher-Melike type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

presequence translocase associated motor 16

ClinVar Annotator: match by term: PAM16-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type

PMID:24786642 PMID:27354339 PMID:28492532

NCBI chr16:3,243,435...3,248,815
Ensembl chr16:4,418,006...4,515,038

thanatophoric dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Thanatophoric dwarfism

PMID:7773297 PMID:8599935 PMID:8754806 PMID:8845844 PMID:9207791 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

heparan sulfate proteoglycan 2

OMIM:187600 | OMIM:187601 | OMIM:273680

NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400

Thanatophoric Dysplasia, Type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE

PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

Thanatophoric Dysplasia, Type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL | ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2

PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

Three M Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cullin 7

ClinVar Annotator: match by term: 3M syndrome 1 | ClinVar Annotator: match by term: CUL7-related condition | ClinVar Annotator: match by term: Three M syndrome 1

PMID:16142236 PMID:16199547 PMID:17675530 PMID:19225462 PMID:21383554 More...

NCBI chr 6:42,629,158...42,646,279
Ensembl chr 6:43,924,408...43,942,768

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: 3M syndrome 1

NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567

Three M Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

obscurin like cytoskeletal adaptor 1

ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition | ClinVar Annotator: match by term: Three M syndrome 2

PMID:16199547 PMID:16531729 PMID:17681982 PMID:19481195 PMID:19877176 More...

NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567

G

trio Rho guanine nucleotide exchange factor

ClinVar Annotator: match by term: THREE M SYNDROME 2

PMID:19481195 PMID:25741868

NCBI chr 5:14,448,259...14,814,875
Ensembl chr 5:14,423,780...14,654,124

Three M Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 8

ClinVar Annotator: match by term: 3M syndrome 3 | ClinVar Annotator: match by term: CCDC8-related condition

PMID:21737058 PMID:22325252 PMID:23018678 PMID:25741868 PMID:28492532 More...

NCBI chr19:43,399,711...43,403,207
Ensembl chr19:51,928,645...51,931,510

thyroid dyshormonogenesis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 5 member 5

ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 1

PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 More...

NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

thyroid dyshormonogenesis 2A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thyroid peroxidase

ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: TPO-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A

PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More...

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

thyroid dyshormonogenesis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Src like adaptor

ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

PMID:25741868 PMID:28492532

NCBI chr 8:129,690,546...129,757,660
Ensembl chr 8:132,666,411...132,732,669

G

thyroglobulin

susceptibility

ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 More...

NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918

thyroid dyshormonogenesis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

iodotyrosine deiodinase

ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: IYD-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4

PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 More...

NCBI chr 6:148,178,638...148,216,122
Ensembl chr 6:152,886,373...152,922,152

thyroid dyshormonogenesis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dual oxidase maturation factor 1

ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5

PMID:21367925 PMID:25741868

NCBI chr15:24,064,967...24,077,641
Ensembl chr15:42,418,234...42,430,749

G

dual oxidase maturation factor 2

ClinVar Annotator: match by term: DUOXA2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5

PMID:18042646 PMID:21367925 PMID:23292166 PMID:25675383 PMID:25741868 More...

NCBI chr15:24,061,922...24,066,016
Ensembl chr15:42,415,195...42,418,974

thyroid dyshormonogenesis 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dual oxidase 2

ClinVar Annotator: match by term: DUOX2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6

PMID:4564849 PMID:9536098 PMID:12110737 PMID:16134168 PMID:16199547 More...

NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281

TIMES Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 8 VRAC subunit C

ClinVar Annotator: match by term: TELANGIECTASIA, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, METAPHYSEAL DYSPLASIA, EYE ABNORMALITIES, AND SHORT STATURE

NCBI chr 1:92,299,691...92,384,733
Ensembl chr 1:91,105,551...91,138,447

Torrance type platyspondylic dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,4-galactosyltransferase 7

ClinVar Annotator: match by term: Lethal skeletal dysplasia

PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 More...

NCBI chr 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant

PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More...

NCBI chr12:40,726,137...40,757,690

Watson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neurofibromin 1

ClinVar Annotator: match by term: PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS | ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots

PMID:1302608 PMID:1568246 PMID:1568247 PMID:1757093 PMID:1783401 More...

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

Weaver syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 6 C7orf33 homolog

ClinVar Annotator: match by term: Weaver syndrome

NCBI chr 7:140,317,024...140,342,184
Ensembl chr 7:152,798,008...152,823,097

G

contactin associated protein 2

ClinVar Annotator: match by term: Weaver syndrome

NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818

G

cullin 1

ClinVar Annotator: match by term: Weaver syndrome

NCBI chr 7:140,428,442...140,531,136
Ensembl chr 7:152,908,303...153,011,254

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

ClinVar Annotator: match by term: Weaver syndrome

PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 More...

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

polycomb protein SUZ12

ClinVar Annotator: match by term: Weaver syndrome

PMID:25741868 PMID:30019515

NCBI chr17:24,790,921...24,853,790

G

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Weaver syndrome

PMID:18414213 PMID:25741868 PMID:28492532

NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351

Weill-Marchesani syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 10

susceptibility

DNA:SNP:cd: p.G661R (mouse)
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Recessive | ClinVar Annotator: match by term: Weill-Marchesani syndrome

PMID:19836009 PMID:25741868 PMID:28492532 PMID:32537296 PMID:34424262

NCBI chr19:7,861,870...7,892,442
Ensembl chr19:8,708,164...8,737,556

G

ADAM metallopeptidase with thrombospondin type 1 motif 17

OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819

NCBI chr15:78,703,728...79,076,861
Ensembl chr15:97,999,448...98,366,893

G

fibrillin 1

ClinVar Annotator: match by term: Mesodermal dysmorphodystrophy congenital | ClinVar Annotator: match by term: Weill-Marchesani syndrome

PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More...

NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Weill-Marchesani syndrome

PMID:9536098 PMID:17576681 PMID:19656777 PMID:22924778 PMID:23218701 More...

NCBI chr14:55,051,325...55,164,613
Ensembl chr14:73,901,851...74,011,914

G

tumor necrosis factor

protein:increased expression:serum:

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

Weill-Marchesani Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 10

ClinVar Annotator: match by term: ADAMTS10-related condition | ClinVar Annotator: match by term: Weill-Marchesani syndrome 1

PMID:15368195 PMID:16199547 PMID:18567016 PMID:19836009 PMID:25741868 More...

NCBI chr19:7,861,870...7,892,442
Ensembl chr19:8,708,164...8,737,556

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Weill-Marchesani syndrome 1

NCBI chr14:55,051,325...55,164,613
Ensembl chr14:73,901,851...74,011,914

Weill-Marchesani Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibrillin 1

ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2

PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More...

NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

Weill-Marchesani Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Weill-Marchesani syndrome 3

PMID:9536098 PMID:17576681 PMID:22539340 PMID:23401661 PMID:25741868 More...

NCBI chr14:55,051,325...55,164,613
Ensembl chr14:73,901,851...74,011,914

Weill-Marchesani Syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase with thrombospondin type 1 motif 17

ClinVar Annotator: match by term: ADAMTS17-related condition | ClinVar Annotator: match by term: ADAMTS17-related disorder | ClinVar Annotator: match by term: Weill-Marchesani syndrome 4 | ClinVar Annotator: match by term: Weill-Marchesani-like syndrome

PMID:9536098 PMID:17576681 PMID:19836009 PMID:22486325 PMID:24940034 More...

NCBI chr15:78,703,728...79,076,861
Ensembl chr15:97,999,448...98,366,893

X-linked Aarskog syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FYVE, RhoGEF and PH domain containing 1

ClinVar Annotator: match by term: FGD1-Related Disorders

PMID:000740980 PMID:7954831 PMID:11940089 PMID:14560308 PMID:21739585 More...

NCBI chr X:46,648,765...46,699,444
Ensembl chr X:54,880,513...54,930,672

G

TSR2 ribosome maturation factor

ClinVar Annotator: match by term: FGD1-Related Disorders

PMID:25741868 PMID:28492532

NCBI chr X:46,643,659...46,648,829
Ensembl chr X:54,875,696...54,880,809

X-Linked Mental Retardation with Isolated Growth Hormone Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 3

DNA:duplication:cds:c.712_744dup (human)

NCBI chr X:129,654,296...129,656,446

XFE progeroid syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 1, endonuclease non-catalytic subunit

OMIM:610965

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

G

ERCC excision repair 4, endonuclease catalytic subunit

ClinVar Annotator: match by term: XFE progeroid syndrome | ClinVar Annotator: match by term: XPF-ERCC1 PROGEROID SYNDROME

PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More...

NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: XFE progeroid syndrome

PMID:25741868 PMID:28492532

NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

Zaki syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt ligand secretion mediator

ClinVar Annotator: match by term: WLS-related condition | ClinVar Annotator: match by term: Zaki syndrome

PMID:25741868 PMID:28492532 PMID:34587386

NCBI chr 1:67,336,009...67,470,265
Ensembl chr 1:69,318,742...69,425,652

Term paths to the root

Path 1
Term	Annotations
disease	15834
disease of anatomical entity	15490
endocrine system disease	6239
Dwarfism	865
3-M syndrome +	4
AMED syndrome	2
Aarskog syndrome +	2
Abuse Dwarfism Syndrome	0
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus	0
Alopecia Contractures Dwarfism Mental Retardation	0
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis	0
Astley-Kendall Syndrome	0
Asymmetric Short Stature Syndrome	0
Atelosteogenesis Type 3	1
Bangstad Syndrome	0
Bird Headed Dwarfism Montreal Type	0
Boomerang dysplasia	1
Brachydactylous Dwarfism Mseleni Type	0
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	0
Brunoni Syndrome	0
Bullous Dystrophy, Hereditary Macular Type	0
Cantu Sanchez-Corona Fragoso Syndrome	0
Chondrodysplasia Calcificans Metaphysealis	0
Cockayne syndrome +	37
De Sanctis-Cacchione syndrome	1
Desbuquois dysplasia +	6
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome	1
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	0
Dwarfism Stiff Joint Ocular Abnormalities	0
Dwarfism with Tall Vertebrae	0
Dwarfism, Levi Type	0
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone	0
Dyggve-Melchior-Clausen disease +	2
Dyssegmental Dysplasia with Glaucoma	0
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME	1
Familial Dwarfism with Muscle Spasms	0
Familial Synovial Chondromatosis with Dwarfism	0
GARG-MISHRA PROGEROID SYNDROME	1
Growth Hormone Insensitivity with Immune Dysregulation +	5
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death	2
Hadziselimovic Syndrome	0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS	1
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment	0
JOINT LAXITY, SHORT STATURE, AND MYOPIA	1
Juberg Hayward Syndrome	10
Kenny-Caffey syndrome type 2	2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy	0
Kniest dysplasia	1
Laplane Fontaine Lagardere Syndrome	0
Laron syndrome	2
Lessel-Kubisch Syndrome	1
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism	0
Mesomelic Dwarfism Reinhardt Pfeiffer Type	0
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type	0
Metatropic Dwarfism, Type II	0
Microcephalic Osteodysplastic Primordial Dwarfism +	6
Microcephalic Primordial Dwarfism Toriello Type	0
Microcephaly, Short Stature, and Impaired Glucose Metabolism +	2
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures	1
Mollica-Pavone-Antener Syndrome	0
Mosaic Variegated Aneuploidy Syndrome 6	1
Nievergelt Syndrome	0
Oculopalatocerebral Syndrome	0
Oliver-McFarlane syndrome	1
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME	1
Proportionate Dwarfism with Hip Dislocation	0
Pseudodiastrophic Dysplasia	0
Robinow syndrome +	9
Rommen Mueller Sybert Syndrome	0
Ruvalcaba Syndrome	0
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES	2
SHORT STATURE, DAUBER-ARGENTE TYPE	1
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION	2
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY	1
SHORT STATURE-MICROGNATHIA SYNDROME	2
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE	1
Seckel Like Syndrome Type Buebel	0
Seckel Syndrome 3	0
Seckel syndrome 1	4
Seckel syndrome 2	2
Seckel syndrome 4	2
Short Limb Dwarfism Al Gazali Type	1
Short Stature and Facioauriculothoracic Malformations	0
Short Stature and Microcephaly with Genital Anomalies	1
Short Stature with Nonspecific Skeletal Abnormalities 1	2
Short Stature, Developmental Delay, and Congenital Heart Defects	1
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +	2
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting	0
Short Stature-Obesity Syndrome	0
Silver-Russell syndrome +	20
Silverman-Handmaker type dyssegmental dysplasia	2
Singh Chhaparwal Dhanda Syndrome	0
Spondyloepiphyseal Dysplasia Tarda, Toledo Type	0
TIMES Syndrome	1
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1	0
Thoraco Limb Dysplasia Rivera Type	0
Thoracomelic Dysplasia	0
Tryptophanuria with Dwarfism	0
Watson syndrome	1
Weill-Marchesani syndrome +	5
Zaki syndrome	1
achondroplasia +	57
acromesomelic dysplasia +	91
anauxetic dysplasia +	57
congenital hypothyroidism +	231
diastrophic dysplasia +	1
diphthamide deficiency syndrome +	5
fibrochondrogenesis +	2
geroderma osteodysplasticum	1
hypochondroplasia	1
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	1
intellectual developmental disorder with short stature and behavioral abnormalities	1
isolated growth hormone deficiency +	46
metatropic dysplasia	1
mulibrey nanism	6
otospondylomegaepiphyseal dysplasia, autosomal recessive	2
parastremmatic dwarfism	1
rapadilino syndrome	1
short stature, hearing loss, retinitis pigmentosa, and distinctive facies	1
spondylometaepiphyseal dysplasia, short limb-hand type	1
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type	1
Path 2
Term	Annotations
disease	15834
disease of anatomical entity	15490
Skin and Connective Tissue Diseases	7209
connective tissue disease	5498
bone disease	3954
bone development disease	2385
Dwarfism	865
3-M syndrome +	4
AMED syndrome	2
Aarskog syndrome +	2
Abuse Dwarfism Syndrome	0
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus	0
Alopecia Contractures Dwarfism Mental Retardation	0
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis	0
Astley-Kendall Syndrome	0
Asymmetric Short Stature Syndrome	0
Atelosteogenesis Type 3	1
Bangstad Syndrome	0
Bird Headed Dwarfism Montreal Type	0
Boomerang dysplasia	1
Brachydactylous Dwarfism Mseleni Type	0
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	0
Brunoni Syndrome	0
Bullous Dystrophy, Hereditary Macular Type	0
Cantu Sanchez-Corona Fragoso Syndrome	0
Chondrodysplasia Calcificans Metaphysealis	0
Cockayne syndrome +	37
De Sanctis-Cacchione syndrome	1
Desbuquois dysplasia +	6
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome	1
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	0
Dwarfism Stiff Joint Ocular Abnormalities	0
Dwarfism with Tall Vertebrae	0
Dwarfism, Levi Type	0
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone	0
Dyggve-Melchior-Clausen disease +	2
Dyssegmental Dysplasia with Glaucoma	0
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME	1
Familial Dwarfism with Muscle Spasms	0
Familial Synovial Chondromatosis with Dwarfism	0
GARG-MISHRA PROGEROID SYNDROME	1
Growth Hormone Insensitivity with Immune Dysregulation +	5
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death	2
Hadziselimovic Syndrome	0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS	1
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment	0
JOINT LAXITY, SHORT STATURE, AND MYOPIA	1
Juberg Hayward Syndrome	10
Kenny-Caffey syndrome type 2	2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy	0
Kniest dysplasia	1
Laplane Fontaine Lagardere Syndrome	0
Laron syndrome	2
Lessel-Kubisch Syndrome	1
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism	0
Mesomelic Dwarfism Reinhardt Pfeiffer Type	0
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type	0
Metatropic Dwarfism, Type II	0
Microcephalic Osteodysplastic Primordial Dwarfism +	6
Microcephalic Primordial Dwarfism Toriello Type	0
Microcephaly, Short Stature, and Impaired Glucose Metabolism +	2
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures	1
Mollica-Pavone-Antener Syndrome	0
Mosaic Variegated Aneuploidy Syndrome 6	1
Nievergelt Syndrome	0
Oculopalatocerebral Syndrome	0
Oliver-McFarlane syndrome	1
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME	1
Proportionate Dwarfism with Hip Dislocation	0
Pseudodiastrophic Dysplasia	0
Robinow syndrome +	9
Rommen Mueller Sybert Syndrome	0
Ruvalcaba Syndrome	0
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES	2
SHORT STATURE, DAUBER-ARGENTE TYPE	1
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION	2
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY	1
SHORT STATURE-MICROGNATHIA SYNDROME	2
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE	1
Seckel Like Syndrome Type Buebel	0
Seckel Syndrome 3	0
Seckel syndrome 1	4
Seckel syndrome 2	2
Seckel syndrome 4	2
Short Limb Dwarfism Al Gazali Type	1
Short Stature and Facioauriculothoracic Malformations	0
Short Stature and Microcephaly with Genital Anomalies	1
Short Stature with Nonspecific Skeletal Abnormalities 1	2
Short Stature, Developmental Delay, and Congenital Heart Defects	1
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +	2
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting	0
Short Stature-Obesity Syndrome	0
Silver-Russell syndrome +	20
Silverman-Handmaker type dyssegmental dysplasia	2
Singh Chhaparwal Dhanda Syndrome	0
Spondyloepiphyseal Dysplasia Tarda, Toledo Type	0
TIMES Syndrome	1
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1	0
Thoraco Limb Dysplasia Rivera Type	0
Thoracomelic Dysplasia	0
Tryptophanuria with Dwarfism	0
Watson syndrome	1
Weill-Marchesani syndrome +	5
Zaki syndrome	1
achondroplasia +	57
acromesomelic dysplasia +	91
anauxetic dysplasia +	57
congenital hypothyroidism +	231
diastrophic dysplasia +	1
diphthamide deficiency syndrome +	5
fibrochondrogenesis +	2
geroderma osteodysplasticum	1
hypochondroplasia	1
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	1
intellectual developmental disorder with short stature and behavioral abnormalities	1
isolated growth hormone deficiency +	46
metatropic dysplasia	1
mulibrey nanism	6
otospondylomegaepiphyseal dysplasia, autosomal recessive	2
parastremmatic dwarfism	1
rapadilino syndrome	1
short stature, hearing loss, retinitis pigmentosa, and distinctive facies	1
spondylometaepiphyseal dysplasia, short limb-hand type	1
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type	1

paths to the root