calcinosis - 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:	calcinosis	go back to main search page
Accession:	DOID:182	browse the term
Definition:	A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. (DO)
Synonyms:	exact_synonym:	Microcalcification; Microcalcifications; Microcalcinoses; Microcalcinosis; Pathologic Calcification; Tumoral Calcinoses; calcinoses; pathologically calcified structure; tumoral calcinosis
	primary_id:	MESH:D002114
	xref:	EFO:0003837; NCI:C3672
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (553) Mouse (556) Human (8996) Chinchilla (520) Bonobo (552) Dog (550) Squirrel (529) Pig (537) Green Monkey (548) Naked Mole-rat (517) All
Genes (550)

calcinosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 2-HS glycoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr34:19,221,034...19,228,866
Ensembl chr34:19,221,107...19,228,716

G

alkaline phosphatase, biomineralization associated

CTD Direct Evidence: marker/mechanism

NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

bone gamma-carboxyglutamate protein

CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:
associated with hypertension;protein:undercarboxylated:serum

PMID:18422975 PMID:20197689 PMID:21335463

RGD:6483566 RGD:9068449

NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791

G

bone morphogenetic protein 2

CTD Direct Evidence: marker/mechanism

PMID:30963258 PMID:31843813

NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217

G

bone morphogenetic protein 4

protein:increased expression:dermis:

NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557

G

complement C6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:68,223,626...68,318,773
Ensembl chr 4:68,253,255...68,318,252

G

caspase 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

PMID:21193197 PMID:21335463

NCBI chr 9:39,008,187...39,009,932

G

collagen type XVIII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr31:38,915,872...38,957,484

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

CST telomere replication complex component 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142

G

catenin beta 1

protein:increased expression:dermis:

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:26,290,903...28,444,635
Ensembl chr X:26,290,910...28,333,576

G

erythropoietin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

erb-b2 receptor tyrosine kinase 2

associated with Breast Neoplasms;protein:increased expression:breast

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

G

Fc fragment of IgG receptor Ia

CTD Direct Evidence: marker/mechanism

NCBI chr17:59,073,139...59,102,023
Ensembl chr17:59,092,933...59,102,015

G

fibroblast growth factor 23

CTD Direct Evidence: marker/mechanism

NCBI chr27:40,501,655...40,511,785
Ensembl chr27:40,501,731...40,509,766

G

polypeptide N-acetylgalactosaminyltransferase 3

CTD Direct Evidence: marker/mechanism

NCBI chr36:10,895,366...10,990,848
Ensembl chr36:10,896,128...10,919,000

G

glutathione peroxidase 1

susceptibility

associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human)

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

interleukin 18

CTD Direct Evidence: marker/mechanism

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:3,728,472...3,757,696
Ensembl chr 2:3,670,596...3,756,961

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

klotho

CTD Direct Evidence: marker/mechanism

NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558

G

lipocalin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038

G

lymphocyte specific protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:46,087,886...46,127,307
Ensembl chr18:46,087,922...46,127,263

G

lymphocyte antigen 86

CTD Direct Evidence: marker/mechanism

NCBI chr35:6,627,744...6,687,170
Ensembl chr35:6,627,598...6,687,166

G

matrix Gla protein

NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

PMID:15545515 PMID:21193197

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

PMID:15545515 PMID:21193197

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

nuclear receptor subfamily 1 group I member 2

CTD Direct Evidence: marker/mechanism

NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

G

platelet derived growth factor receptor beta

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440

G

protein tyrosine phosphatase non-receptor type 6

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,049,352...17,051,348
Ensembl chr 6:17,049,705...17,051,240

G

receptor interacting serine/threonine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325

G

solute carrier family 20 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775

G

solute carrier family 22 member 6

CTD Direct Evidence: marker/mechanism

NCBI chr18:53,736,669...53,745,001
Ensembl chr18:53,736,959...53,744,396

G

snail family transcriptional repressor 2

CTD Direct Evidence: marker/mechanism

NCBI chr29:1,154,132...1,156,653
Ensembl chr29:1,154,036...1,156,653

G

secreted protein acidic and cysteine rich

protein:increased expression:dermis:

NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711

G

sialophorin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,770,303...17,774,946

G

secreted phosphoprotein 1

protein:increased expression:dermis:
CTD Direct Evidence: marker/mechanism

PMID:18390899 PMID:18422975 PMID:21193197 PMID:21335463

RGD:6903869 RGD:9068449

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:41,201,623...41,205,314
Ensembl chr X:41,201,638...41,205,310

G

TIMP metallopeptidase inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

G

xenotropic and polytropic retrovirus receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:14,165,608...14,379,822
Ensembl chr 7:14,165,608...14,379,822

Aicardi-Goutieres syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase RNA specific

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More...

NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999

G

ATR interacting protein

ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME

PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More...

NCBI chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594

G

interferon induced with helicase C domain 1

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048

G

lysine acetyltransferase 5

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699

G

ribonuclease H2 subunit A

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More...

NCBI chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167

G

ribonuclease H2 subunit B

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More...

NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223

G

ribonuclease H2 subunit C

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More...

NCBI chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More...

NCBI chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902

G

TBC/LysM-associated domain containing 2

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:25741868 PMID:28492532

NCBI chr24:25,602,002...25,623,273
Ensembl chr24:25,610,851...25,623,803

G

three prime repair exonuclease 1

ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME

PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More...

NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

NCBI chr27:45,739,845...45,814,668

Aicardi-Goutieres Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion molecule with Ig like domain 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,554,028...39,557,129
Ensembl chr20:39,554,629...39,556,155

G

aminomethyltransferase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506

G

acylaminoacyl-peptide hydrolase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,587,316...39,596,324
Ensembl chr20:39,587,279...39,596,228

G

ariadne RBR E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,178,560...40,230,870
Ensembl chr20:40,179,168...40,230,880

G

ATR interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant

PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More...

NCBI chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594

G

bassoon presynaptic cytomatrix protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,601,803...39,696,831
Ensembl chr20:39,605,117...39,642,298

G

chromosome 20 C3orf62 homolog

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,953,285...39,959,112
Ensembl chr20:39,953,764...39,956,754

G

chromosome 20 C3orf84 homolog

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,012,730...40,021,983
Ensembl chr20:40,012,854...40,021,981

G

CaM kinase like vesicle associated

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,413,050...39,428,973
Ensembl chr20:39,424,519...39,427,612

G

coiled-coil domain containing 71

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,031,573...40,036,895
Ensembl chr20:40,033,839...40,035,416

G

cadherin related family member 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,473,450...39,482,158
Ensembl chr20:39,473,848...39,482,144

G

cadherin EGF LAG seven-pass G-type receptor 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,457,430...40,495,128
Ensembl chr20:40,457,657...40,483,881

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935

G

dystroglycan 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550

G

DALR anticodon binding domain containing 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,145,239...40,148,731
Ensembl chr20:40,145,700...40,148,729
Ensembl chr20:40,145,700...40,148,729

G

DNA cross-link repair 1C

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532

NCBI chr 2:21,688,822...21,725,021
Ensembl chr 2:21,688,766...21,724,248

G

GDP-mannose pyrophosphorylase B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045

G

G protein subunit alpha i2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697

G

G protein subunit alpha transducin 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,128,244...39,133,280
Ensembl chr20:39,128,244...39,133,280

G

glutathione peroxidase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

hyaluronidase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,035,924...39,040,443
Ensembl chr20:39,038,514...39,040,368

G

hyaluronidase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,041,940...39,047,388
Ensembl chr20:39,042,070...39,047,365

G

interferon related developmental regulator 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,047,573...39,053,528
Ensembl chr20:39,048,259...39,053,341

G

interactor of HORMAD1 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,964,629...40,006,726
Ensembl chr20:39,965,480...39,990,756

G

inosine monophosphate dehydrogenase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,136,106...40,140,983
Ensembl chr20:40,136,154...40,140,972

G

inka box actin regulator 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,469,103...39,477,169
Ensembl chr20:39,469,146...39,470,857

G

inositol hexakisphosphate kinase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,484,487...39,550,199
Ensembl chr20:39,484,531...39,547,412

G

inositol hexakisphosphate kinase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,403,260...40,437,863
Ensembl chr20:40,427,083...40,437,804

G

kelch domain containing 8B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,012,797...40,027,888
Ensembl chr20:40,023,411...40,026,552

G

laminin subunit beta 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523

G

leucine rich single-pass membrane protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,053,152...39,058,467
Ensembl chr20:39,053,950...39,054,717

G

microRNA mir-191

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,144,135...40,144,198
Ensembl chr20:40,144,121...40,144,210

G

MON1 homolog A, secretory trafficking associated

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,368,757...39,383,175
Ensembl chr20:39,378,694...39,383,175

G

macrophage stimulating 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,582,237...39,586,958
Ensembl chr20:39,582,282...39,586,908

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,386,970...39,400,780
Ensembl chr20:39,387,322...39,400,588

G

N-alpha-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,042,078...39,044,894

G

NCK interacting protein with SH3 domain

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,443,245...40,449,859
Ensembl chr20:40,442,386...40,449,542

G

NADH:ubiquinone oxidoreductase complex assembly factor 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,141,550...40,143,207
Ensembl chr20:40,141,552...40,172,553

G

nicolin 1, tubulin polyglutamylase complex subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354

G

prolyl 4-hydroxylase, transmembrane

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,157,952...40,172,624
Ensembl chr20:40,157,952...40,172,599

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,556,548...40,587,036
Ensembl chr20:40,556,790...40,585,652

G

protein kinase cAMP-dependent type II regulatory subunit alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,277,655...40,388,156
Ensembl chr20:40,277,906...40,384,633

G

glutaminyl-tRNA synthetase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099

G

glutamine rich 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,086,141...40,135,810
Ensembl chr20:40,097,149...40,135,140

G

RNA binding motif protein 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,198,706...39,227,856
Ensembl chr20:39,199,154...39,227,769

G

RNA binding motif protein 6

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,235,301...39,359,784
Ensembl chr20:39,235,421...39,334,107

G

ras homolog family member A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215

G

ribonuclease H2 subunit B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223

G

ring finger protein 123

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,553,016...39,582,127
Ensembl chr20:39,553,059...39,579,844

G

semaphorin 3B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,058,708...39,067,277
Ensembl chr20:39,059,245...39,065,661

G

semaphorin 3F

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,135,580...39,165,381
Ensembl chr20:39,136,523...39,161,325

G

shisa family member 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,604,183...40,624,607
Ensembl chr20:40,601,626...40,623,601

G

solute carrier family 25 member 20

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433

G

solute carrier family 38 member 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,108,387...39,122,526
Ensembl chr20:39,109,211...39,114,849

G

T cell leukemia translocation altered

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,820,845...39,824,526
Ensembl chr20:39,822,211...39,824,200

G

transmembrane protein 89

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,496,844...40,497,742
Ensembl chr20:40,496,844...40,497,742

G

TRAF interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,430,109...39,454,437
Ensembl chr20:39,430,489...39,453,933

G

three prime repair exonuclease 1

susceptibility

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant

PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More...

NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906

G

ubiquitin like modifier activating enzyme 7

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,459,981...39,468,919
Ensembl chr20:39,460,216...39,468,917

G

urocortin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,551,060...40,552,920

G

ubiquinol-cytochrome c reductase core protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,507,767...40,515,854
Ensembl chr20:40,506,907...40,520,110

G

ubiquitin specific peptidase 19

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,062,802...40,074,221
Ensembl chr20:40,064,599...40,074,082

G

ubiquitin specific peptidase 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:39,899,880...39,952,959
Ensembl chr20:39,899,897...39,952,420

G

WD repeat domain 6

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1

PMID:16845398 PMID:28492532

NCBI chr20:40,148,262...40,157,770
Ensembl chr20:40,148,928...40,157,650

Aicardi-Goutieres Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribonuclease H2 subunit B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition

PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More...

NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223

Aicardi-Goutieres Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,787,353...50,801,036
Ensembl chr18:50,787,353...50,801,197

G

aminoacylase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,860,273...49,865,202

G

aryl hydrocarbon receptor interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676

G

aldehyde dehydrogenase 3 family member B1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,801,893...49,819,727
Ensembl chr18:49,802,121...49,819,713

G

ankyrin repeat domain 13D

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,135,779...50,145,721
Ensembl chr18:50,135,792...50,145,846

G

anoctamin 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:48,108,310...48,249,021
Ensembl chr18:48,108,806...48,189,471

G

adaptor related protein complex 5 subunit beta 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,472,966...51,476,231
Ensembl chr18:51,462,758...51,476,114

G

beta-1,4-glucuronyltransferase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264

G

BAF nuclear assembly factor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,269,817...51,271,484
Ensembl chr18:51,269,815...51,271,690

G

Bardet-Biedl syndrome 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,816,126...50,835,354

G

BRMS1 transcriptional repressor and anoikis regulator

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,967,175...50,974,816
Ensembl chr18:50,967,270...50,974,321

G

chromosome 18 C11orf24 homolog

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,580,495...49,590,962
Ensembl chr18:49,584,563...49,591,683

G

chromosome 18 C11orf68 homolog

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,353,212...51,355,490

G

chromosome 18 C11orf86 homolog

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,394,024...50,395,968
Ensembl chr18:50,394,805...50,395,812

G

calcium binding protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268

G

calcium binding protein 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854

G

calpain 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757

G

carnosine synthase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,041,545...50,050,438
Ensembl chr18:50,042,465...50,050,949

G

cation channel sperm associated 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,249,897...51,260,211
Ensembl chr18:51,250,039...51,260,168

G

coiled-coil domain containing 85B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,375,015...51,376,044
Ensembl chr18:51,375,261...51,375,866

G

coiled-coil domain containing 87

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,759,378...50,762,205
Ensembl chr18:50,759,436...50,762,057

G

cyclin D1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005

G

copper chaperone for superoxide dismutase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,748,039...50,759,270
Ensembl chr18:50,748,041...50,759,191

G

CD248 molecule

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,991,552...50,994,185
Ensembl chr18:50,991,585...50,994,179

G

CDC42 effector protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,854,975...51,863,594
Ensembl chr18:51,857,367...51,858,011

G

cyclin dependent kinase 2 associated protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,969,630...49,971,781
Ensembl chr18:49,970,160...49,971,457

G

cofilin 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212

G

choline kinase alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,717,512...49,784,653
Ensembl chr18:49,745,437...49,781,882

G

cardiotrophin like cytokine factor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,084,120...50,093,825
Ensembl chr18:50,083,915...50,102,651

G

cornichon family AMPA receptor auxiliary protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,020,263...51,026,280
Ensembl chr18:51,021,116...51,026,273

G

coronin 1B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,027,274...50,031,601
Ensembl chr18:50,027,275...50,050,907

G

carnitine palmitoyltransferase 1A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117

G

cystatin E/M

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,263,161...51,264,816
Ensembl chr18:51,263,178...51,264,780

G

cathepsin F

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,782,326...50,787,213
Ensembl chr18:50,782,404...50,786,996

G

cathepsin W

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,381,999...51,386,277
Ensembl chr18:51,382,122...51,386,261

G

double PHD fingers 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087

G

dipeptidyl peptidase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,835,739...50,868,777
Ensembl chr18:50,835,735...50,868,682

G

DR1 associated protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,350,625...51,352,742
Ensembl chr18:51,350,716...51,352,977

G

EGF containing fibulin extracellular matrix protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107

G

EH domain binding protein 1 like 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315

G

eukaryotic translation initiation factor 1A domain containing

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,271,850...51,276,215
Ensembl chr18:51,272,855...51,274,487

G

Fas associated via death domain

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:48,087,447...48,094,497

G

family with sequence similarity 89 member B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,632,509...51,634,218
Ensembl chr18:51,632,781...51,634,034

G

fibroblast growth factor 19

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:48,464,931...48,469,967
Ensembl chr18:48,464,928...48,469,782

G

fibroblast growth factor 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009

G

fibroblast growth factor 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:48,413,480...48,417,494
Ensembl chr18:48,413,187...48,416,977

G

FGF1 intracellular binding protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,377,757...51,381,872
Ensembl chr18:51,377,797...51,381,808

G

FOS like 1, AP-1 transcription factor subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748

G

FERM domain containing 8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,782,664...51,807,343
Ensembl chr18:51,784,413...51,806,874

G

galanin and GMAP prepropeptide

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,240,437...49,246,543
Ensembl chr18:49,240,437...49,246,950

G

galactose-3-O-sulfotransferase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,215,280...51,222,962
Ensembl chr18:51,219,156...51,222,418

G

G protein-coupled receptor 152

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,019,898...50,022,587
Ensembl chr18:50,020,286...50,021,695

G

G protein-coupled receptor kinase 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428

G

glutathione S-transferase pi 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182

G

immunoglobulin mu DNA binding protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453

G

lysine acetyltransferase 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:25741868 PMID:28492532 PMID:28600438

NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699

G

potassium two pore domain channel subfamily K member 7

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,609,373...51,613,802
Ensembl chr18:51,610,746...51,613,675

G

lysine demethylase 2A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,178,511...50,294,097
Ensembl chr18:50,181,024...50,291,127

G

kinesin light chain 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,035,013...51,045,629
Ensembl chr18:51,035,705...51,045,595

G

lysine methyltransferase 5B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,655,783...49,691,899
Ensembl chr18:49,637,610...49,827,034

G

aldehyde dehydrogenase family 3 member B2-like

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,856,341...49,860,263
Ensembl chr18:49,853,737...49,859,927

G

DNA polymerase delta 4, accessory subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,101,211...50,103,045

G

leucine rich repeat and fibronectin type III domain containing 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,495,971...50,499,062
Ensembl chr18:50,495,971...50,499,068

G

LDL receptor related protein 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396

G

latent transforming growth factor beta binding protein 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433

G

LTO1 maturation factor of ABCE1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:48,482,212...48,490,678
Ensembl chr18:48,481,955...48,490,691

G

mitogen-activated protein kinase kinase kinase 11

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,593,641...51,609,245
Ensembl chr18:51,594,274...51,608,696

G

MAS related GPR family member D

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,028,149...49,029,198
Ensembl chr18:49,028,149...49,029,198

G

MAS related GPR family member F

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,006,789...49,015,080
Ensembl chr18:49,006,888...49,015,080

G

mitochondrial ribosomal protein L11

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,890,411...50,893,891
Ensembl chr18:50,890,413...50,893,767

G

mitochondrial ribosomal protein L21

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,090,521...49,104,052
Ensembl chr18:49,090,689...49,104,051

G

MUS81 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,396,980...51,404,563
Ensembl chr18:51,396,980...51,402,534

G

NADH:ubiquinone oxidoreductase core subunit S8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979

G

NADH:ubiquinone oxidoreductase core subunit V1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434

G

neuronal PAS domain protein 4

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,905,614...50,912,119
Ensembl chr18:50,905,611...50,911,086

G

nudix hydrolase 8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,874,630...49,876,703

G

ovo like transcriptional repressor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,454,170...51,465,189
Ensembl chr18:51,455,107...51,464,847

G

phosphofurin acidic cluster sorting protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,055,487...51,196,223
Ensembl chr18:51,056,429...51,196,102

G

pyruvate carboxylase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669

G

pecanex 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,572,004...51,592,811
Ensembl chr18:51,571,452...51,592,104

G

pellino E3 ubiquitin protein ligase family member 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,870,483...50,881,089
Ensembl chr18:50,872,426...50,879,826

G

phosphatidylinositol transfer protein membrane associated 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,972,970...49,985,995
Ensembl chr18:49,974,093...49,985,909

G

DNA polymerase alpha 2, accessory subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,875,860...51,904,492
Ensembl chr18:51,875,903...51,904,746

G

protein phosphatase 1 catalytic subunit alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,062,352...50,065,166
Ensembl chr18:50,062,352...50,065,166

G

protein phosphatase 6 regulatory subunit 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,287,571...49,432,503
Ensembl chr18:49,289,044...49,385,656

G

protein tyrosine phosphatase receptor type C associated protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,031,740...50,034,200
Ensembl chr18:50,027,275...50,050,907

G

RAB1B, member RAS oncogene family

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,026,975...51,034,356
Ensembl chr18:51,028,013...51,034,473

G

RAD9 checkpoint clamp component A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,065,154...50,070,582
Ensembl chr18:50,065,685...50,070,710

G

RNA binding motif protein 14

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,683,227...50,728,512
Ensembl chr18:50,705,024...50,811,319

G

RNA binding motif protein 4B

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,676,138...50,686,061
Ensembl chr18:50,676,162...50,685,573

G

Ras converting CAAX endopeptidase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,509,426...50,512,575
Ensembl chr18:50,509,768...50,517,543

G

RELA proto-oncogene, NF-kB subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

ras homolog family member D

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,320,428...50,330,108
Ensembl chr18:50,321,400...50,330,103

G

Ras and Rab interactor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,975,002...50,982,052
Ensembl chr18:50,975,814...50,980,381

G

ribonuclease H2 subunit C

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition

PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More...

NCBI chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541

G

ribosomal protein S6 kinase B2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,034,318...50,039,892
Ensembl chr18:50,034,364...50,040,250

G

spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,297,419...51,313,804
Ensembl chr18:51,297,419...51,313,793

G

SCY1 like pseudokinase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090

G

splicing factor 3b subunit 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354

G

signal-induced proliferation-associated 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885

G

solute carrier family 25 member 45

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,810,842...51,817,230
Ensembl chr18:51,811,039...51,816,094

G

solute carrier family 29 member 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,946,647...50,955,085
Ensembl chr18:50,946,724...50,954,413

G

sorting nexin 32

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,408,460...51,423,440
Ensembl chr18:51,408,983...51,423,410

G

spectrin beta, non-erythrocytic 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916

G

slingshot protein phosphatase 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,126,646...50,134,799
Ensembl chr18:50,126,663...50,134,729

G

synaptotagmin 12

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,334,779...50,358,113
Ensembl chr18:50,336,042...50,351,333

G

TBC1 domain family member 10C

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,055,376...50,062,166
Ensembl chr18:50,055,363...50,061,173

G

T-box transcription factor 10

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,870,618...49,873,452
Ensembl chr18:49,866,920...49,873,190

G

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317

G

testis expressed metallothionein like protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,191,265...49,232,030
Ensembl chr18:49,191,211...49,230,576

G

tigger transposable element derived 3

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,827,870...51,829,746
Ensembl chr18:51,828,247...51,829,665

G

transmembrane protein 134

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,003,556...50,008,748
Ensembl chr18:50,003,109...50,008,745

G

transmembrane protein 151A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,008,288...51,013,091
Ensembl chr18:51,009,415...51,013,181

G

TOP6B like initiator of meiotic double strand breaks

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943

G

two pore segment channel 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:48,956,833...48,984,499
Ensembl chr18:48,957,249...48,984,564

G

testis specific 10 interacting protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,315,150...51,323,769
Ensembl chr18:51,314,177...51,323,718

G

unc-93 homolog B1, TLR signaling regulator

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:49,826,044...49,835,417
Ensembl chr18:49,826,026...49,882,461

G

Yip1 interacting factor homolog A, membrane trafficking protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:51,015,575...51,019,909
Ensembl chr18:51,015,641...51,019,901

G

zinc finger DHHC-type containing 24

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

NCBI chr18:50,801,179...50,808,480
Ensembl chr18:50,801,303...50,806,877

G

zinc ribbon domain containing 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3

PMID:28492532 PMID:28600438

NCBI chr18:51,634,946...51,636,330
Ensembl chr18:51,634,892...51,637,087

Aicardi-Goutieres Syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bestrophin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,384,595...49,388,758
Ensembl chr20:49,384,966...49,388,755

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032

G

calreticulin

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245

G

DAN domain BMP antagonist family member 5

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,225,351...49,228,940
Ensembl chr20:49,225,990...49,228,940

G

deoxyhypusine synthase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,435,956...49,439,493
Ensembl chr20:49,435,844...49,439,479

G

deoxyribonuclease 2, lysosomal

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,299,236...49,301,815
Ensembl chr20:49,299,406...49,301,814

G

phenylalanyl-tRNA synthetase subunit alpha

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,258,827...49,267,279
Ensembl chr20:49,258,845...49,267,198

G

F-box and WD repeat domain containing 9

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,425,423...49,430,673
Ensembl chr20:49,425,534...49,430,667

G

GADD45G interacting protein 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,241,956...49,243,838
Ensembl chr20:49,241,962...49,243,837

G

glutaryl-CoA dehydrogenase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849

G

guided entry of tail-anchored proteins factor 3, ATPase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,392,662...49,398,662
Ensembl chr20:49,392,662...49,398,664

G

hook microtubule tethering protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,367,450...49,383,109
Ensembl chr20:49,367,876...49,382,813

G

immediate early response 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,071,243...49,074,184
Ensembl chr20:49,072,234...49,072,902

G

JunB proto-oncogene, AP-1 transcription factor subunit

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442

G

KLF transcription factor 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602

G

LYL1 basic helix-loop-helix family member

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,109,358...49,113,911

G

mannosidase alpha class 2B member 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,446,162...49,461,812

G

microtubule associated serine/threonine kinase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,302,037...49,329,247
Ensembl chr20:49,302,162...49,329,837

G

nucleus accumbens associated 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,080,490...49,099,623
Ensembl chr20:49,083,132...49,099,884

G

nuclear factor I X

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,117,087...49,187,023
Ensembl chr20:49,117,943...49,214,788

G

peroxiredoxin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682

G

RAD23 homolog A, nucleotide excision repair protein

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,244,330...49,250,058
Ensembl chr20:49,241,358...49,250,039

G

ribonuclease H2 subunit A

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition

PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 More...

NCBI chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167

G

retbindin

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223

G

syntaxin 10

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,075,302...49,078,694
Ensembl chr20:49,075,834...49,085,324

G

synaptonemal complex central element protein 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,267,985...49,285,986
Ensembl chr20:49,281,773...49,283,880

G

transportin 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,407,842...49,424,220
Ensembl chr20:49,407,152...49,424,752

G

telomerase RNA component interacting RNase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,400,082...49,403,533
Ensembl chr20:49,400,179...49,403,530

G

tRNA methyltransferase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,100,794...49,108,734
Ensembl chr20:49,101,158...49,108,732

G

WD repeat domain 83

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,439,387...49,443,661
Ensembl chr20:49,439,387...49,443,661

G

WD repeat domain 83 opposite strand

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4

PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More...

NCBI chr20:49,443,893...49,445,342
Ensembl chr20:49,443,951...49,445,330

Aicardi-Goutieres Syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BLCAP apoptosis inducing factor

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr24:26,115,356...26,125,963
Ensembl chr24:26,116,887...26,117,150

G

catenin beta like 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr24:26,253,884...26,415,166
Ensembl chr24:26,253,962...26,415,163

G

growth hormone releasing hormone

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712

G

mannosidase beta like

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr24:25,921,827...25,947,363
Ensembl chr26:9,823,398...9,823,589

G

maestro heat like repeat family member 8

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr24:25,768,115...25,827,848
Ensembl chr24:25,770,731...25,828,080

G

neuronatin

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr24:26,119,153...26,121,573
Ensembl chr24:26,118,991...26,120,906

G

RB transcriptional corepressor like 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr24:25,698,313...25,757,358
Ensembl chr24:25,699,638...25,757,229

G

ribophorin II

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr24:25,827,524...25,884,813
Ensembl chr24:25,827,450...25,955,742

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More...

NCBI chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902

G

SRC proto-oncogene, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077

G

TBC/LysM-associated domain containing 2

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5

PMID:25741868 PMID:28492532

NCBI chr24:25,602,002...25,623,273
Ensembl chr24:25,610,851...25,623,803

Aicardi-Goutieres Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase RNA specific

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6

PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More...

NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999

Aicardi-Goutieres Syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon induced with helicase C domain 1

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More...

NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048

Aicardi-Goutieres Syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LSM11, U7 small nuclear RNA associated

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8

NCBI chr 4:52,532,660...52,546,273

Aicardi-Goutieres Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 27 C12orf57 homolog

ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9

PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297

NCBI chr27:38,101,705...38,103,553
Ensembl chr27:38,101,786...38,127,910
Ensembl chr27:38,101,786...38,127,910

amelogenesis imperfecta type 1G

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20A golgi associated secretory pathway pseudokinase

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction

PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More...

NCBI chr 9:15,205,887...15,218,873
Ensembl chr 9:15,207,300...15,230,447

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction

PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More...

NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683

Aortic Calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end-product specific receptor

associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat)

NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129

G

angiotensinogen

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

ATP synthase F1 subunit delta

treatment

associated with Hypercholesterolemia

NCBI chr20:57,547,575...57,550,110
Ensembl chr20:57,547,371...57,549,722

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718

G

gastrin releasing peptide

treatment

associated with chronic kidney disease

NCBI chr 1:16,974,818...16,987,578
Ensembl chr 1:16,975,113...16,987,531

G

gelsolin

disease_progression

protein:decreased expression:blood (human)

NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129

G

superoxide dismutase 1

associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

superoxide dismutase 2

associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

vitamin K epoxide reductase complex subunit 1

susceptibility

DNA:missense mutation: :p.Y139C (416A>G) (rat)

NCBI chr 6:17,140,565...17,142,621
Ensembl chr 6:17,140,633...17,142,547

aortic valve disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 More...

NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

mRNA:increased expression:aorta (rat)

NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718

G

GATA binding protein 5

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:25741868 PMID:28387797 PMID:28492532 PMID:30675029

NCBI chr24:46,417,404...46,427,617
Ensembl chr24:46,417,391...46,429,858

G

interleukin 6

severity

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

notch receptor 1

ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition

PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More...

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

SMAD family member 6

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:28492532 PMID:30796334

NCBI chr30:30,938,908...31,014,259
Ensembl chr30:30,937,849...31,014,583

G

T-box transcription factor 20

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More...

NCBI chr14:46,891,706...46,946,899
Ensembl chr14:46,896,228...46,947,507

arterial calcification of infancy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 6

CTD Direct Evidence: marker/mechanism

NCBI chr 6:27,800,060...27,849,170
Ensembl chr 6:27,798,835...27,848,689

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Idiopathic infantile arterial calcification

PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More...

NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718

basal ganglia calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myogenesis regulating glycosidase

OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483

NCBI chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851

G

platelet derived growth factor receptor beta

OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

solute carrier family 20 member 2

OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483

NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775

Calcification of Aortic Valve

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

CD40 ligand

treatment

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

delta like canonical Notch ligand 4

ameliorates

NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940

G

heat shock protein family D (Hsp60) member 1

severity

NCBI chr37:7,010,421...7,025,912

G

Meis homeobox 2

mRNA,protein:decreased expression:aortic valve:

NCBI chr30:4,422,451...4,627,277
Ensembl chr30:4,422,440...4,741,335

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277

G

prostaglandin-endoperoxide synthase 2

disease_progression

protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

parathyroid hormone

disease_progression

protein:increased expression:serum (rat)

NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967

G

protein tyrosine phosphatase non-receptor type 1

protein:increased expression:aortic valve (human)

NCBI chr24:36,936,469...37,010,929
Ensembl chr24:36,936,298...37,003,720

G

solute carrier family 20 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:36,863,786...36,879,331
Ensembl chr17:36,863,659...36,909,318

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109

Cerebroretinal Microangiopathy with Calcifications and Cysts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: Coats plus syndrome

PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More...

NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142

G

STN1 subunit of CST complex

CTD Direct Evidence: marker/mechanism

NCBI chr28:16,203,607...16,246,468
Ensembl chr28:16,204,073...16,246,058

Cerebroretinal Microangiopathy with Calcifications and Cysts 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1

PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More...

NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142

G

phosphoribosylformylglycinamidine synthase

ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1

PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More...

NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287

Cerebroretinal Microangiopathy with Calcifications and Cysts 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STN1 subunit of CST complex

ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition

PMID:25741868 PMID:27432940 PMID:28492532

NCBI chr28:16,203,607...16,246,468
Ensembl chr28:16,204,073...16,246,058

Cerebroretinal Microangiopathy with Calcifications and Cysts 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protection of telomeres 1

ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3

PMID:27013236 PMID:28492532

NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956

Cole Disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION

PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More...

NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718

Coronary Artery Calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatase and actin regulator 1

DNA:SNP:intron: (rs12526453) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)

PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534

RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247

NCBI chr35:12,233,152...12,745,031
Ensembl chr35:12,491,067...12,741,754

G

TNF receptor superfamily member 11b

severity

associated with Kidney Failure, Chronic

NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444

CREST syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centromere protein C

associated with Anticentromere antibody positivity

NCBI chr13:58,013,218...58,091,347
Ensembl chr13:58,013,212...58,231,200

G

fibrillin 1

NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151

diffuse idiopathic skeletal hyperostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 29 member 1

OMIM:106400

NCBI chr12:12,632,233...12,644,669
Ensembl chr12:12,634,194...12,644,667

Generalized Arterial Calcification of Infancy, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cellular communication network factor 2

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1

NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1

PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 More...

NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718

G

ectonucleotide pyrophosphatase/phosphodiesterase 3

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1

NCBI chr12:97,426...195,939
Ensembl chr12:97,483...182,082

G

zinc finger protein 292

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1

NCBI chr12:46,685,570...46,781,693
Ensembl chr12:46,685,137...46,780,742

Generalized Arterial Calcification of Infancy, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 6

ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2

PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More...

NCBI chr 6:27,800,060...27,849,170
Ensembl chr 6:27,798,835...27,848,689

Greenberg dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin B receptor

ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia

PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More...

NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606

Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

junctional adhesion molecule 3

ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ClinVar Annotator: match by term: JAM3-related condition

PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More...

NCBI chr 5:1,082,619...1,165,188
Ensembl chr 5:1,084,560...1,165,121

hereditary arterial and articular multiple calcification syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5'-nucleotidase ecto

ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition

PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532

NCBI chr12:45,491,028...45,520,019
Ensembl chr12:45,491,733...45,518,405

G

TNF receptor superfamily member 11b

associated with Diabetes Mellitus, Type 2;protein:increased expression:serum

NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444

hyperphosphatemic familial tumoral calcinosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 23

ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More...

NCBI chr27:40,501,655...40,511,785
Ensembl chr27:40,501,731...40,509,766

G

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia | ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532

NCBI chr36:10,895,366...10,990,848
Ensembl chr36:10,896,128...10,919,000

G

klotho

ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558

Hyperphosphatemic Familial Tumoral Calcinosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin like 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:36,844,292...36,882,274
Ensembl chr27:36,844,572...36,883,887

G

acrosin binding protein

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,380,244...38,388,502
Ensembl chr27:38,380,363...38,388,496

G

adiponectin receptor 2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:43,739,269...43,840,116
Ensembl chr27:43,741,679...43,878,467

G

activation induced cytidine deaminase

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789

G

A-kinase anchoring protein 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,217,313...40,255,934
Ensembl chr27:40,218,035...40,250,954

G

anoctamin 2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,976,761...39,320,764
Ensembl chr27:38,833,837...39,320,142

G

apolipoprotein B mRNA editing enzyme catalytic subunit 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,102,728...37,114,084
Ensembl chr27:37,103,016...37,114,556

G

atrophin 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,104,683...38,118,957
Ensembl chr27:38,104,842...38,111,462

G

beta-1,4-N-acetyl-galactosaminyltransferase 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:42,507,577...42,640,010
Ensembl chr27:42,506,760...42,601,761

G

complement C1r

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557

G

complement C1r subcomponent like

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,934,946...37,947,579
Ensembl chr27:37,935,004...37,947,563

G

complement C1s

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575

G

chromosome 27 C12orf57 homolog

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,101,705...38,103,553
Ensembl chr27:38,101,786...38,127,910
Ensembl chr27:38,101,786...38,127,910

G

complement C3a receptor 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,431,745...37,439,858
Ensembl chr27:37,433,792...37,435,246

G

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429

G

calcium voltage-gated channel auxiliary subunit alpha2delta 4

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:43,840,190...43,961,067
Ensembl chr27:43,844,529...44,041,637

G

coiled-coil domain containing 77

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:42,461,831...42,494,224
Ensembl chr27:42,465,232...42,503,999

G

cyclin D2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255

G

CD163 molecule

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106

G

CD27 molecule

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,534,704...38,537,806
Ensembl chr27:38,534,707...38,537,604

G

CD4 molecule

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771

G

CD9 molecule

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576

G

cell division cycle associated 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,172,717...38,174,963
Ensembl chr27:38,172,988...38,176,548

G

chromodomain helicase DNA binding protein 4

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,411,009...38,440,367
Ensembl chr27:38,411,075...38,439,958

G

C-type lectin domain family 4, member A

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,493,740...37,510,276

G

calsyntenin 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,879,047...37,913,317
Ensembl chr27:37,879,269...37,913,281

G

COP9 signalosome subunit 7A

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,301,608...38,313,801
Ensembl chr27:38,307,316...38,313,166

G

calcium release activated channel regulator 2A

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,090,906...41,228,677
Ensembl chr27:41,094,009...41,217,919

G

decapping mRNA 1B

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:43,987,778...44,041,661
Ensembl chr27:43,844,529...44,041,637

G

developmental pluripotency associated 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,114,192...37,196,434

G

dual specificity tyrosine phosphorylation regulated kinase 4

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,239,151...40,301,806
Ensembl chr27:40,251,779...40,301,791

G

EMG1 N1-specific pseudouridine methyltransferase

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,069,089...38,075,577
Ensembl chr27:38,068,231...38,076,300

G

enolase 2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182

G

ELKS/RAB6-interacting/CAST family member 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:43,004,243...43,544,260
Ensembl chr27:43,038,544...43,678,843

G

F-box and leucine rich repeat protein 14

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:43,617,087...43,625,269
Ensembl chr27:43,618,301...43,625,126

G

FERRY endosomal RAB5 effector complex subunit 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,341,944...40,388,424
Ensembl chr27:40,343,672...40,388,031

G

fibroblast growth factor 23

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 More...

NCBI chr27:40,501,655...40,511,785
Ensembl chr27:40,501,731...40,509,766

G

fibroblast growth factor 6

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,440,298...40,456,933
Ensembl chr27:40,440,377...40,455,257

G

FKBP prolyl isomerase 4

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,950,087...41,959,136
Ensembl chr27:41,950,509...41,959,034

G

forkhead box J2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,412,148...37,430,861
Ensembl chr27:37,411,358...37,428,887

G

forkhead box M1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,894,605...41,905,656
Ensembl chr27:41,894,672...41,905,663

G

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:3839626 PMID:3998061 PMID:5899975 PMID:8338191 PMID:9536098 More...

NCBI chr36:10,895,366...10,990,848
Ensembl chr36:10,896,128...10,919,000

G

polypeptide N-acetylgalactosaminyltransferase 8

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,077,724...40,138,592

G

glyceraldehyde-3-phosphate dehydrogenase

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,468,889...38,472,653
Ensembl chr27:38,468,889...38,472,385

G

growth differentiation factor 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,125,845...37,129,567
Ensembl chr27:37,125,928...37,129,484

G

G protein subunit beta 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763

G

G protein-coupled receptor 162

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,195,805...38,201,581
Ensembl chr27:38,196,031...38,199,570

G

intermediate filament family orphan 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,454,397...38,467,815
Ensembl chr27:38,454,465...38,467,502

G

inhibitor of growth family member 4

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,371,656...38,379,251
Ensembl chr27:38,371,766...38,379,029

G

IQ motif and Sec7 domain ArfGEF 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:42,149,006...42,259,881
Ensembl chr27:42,148,956...42,256,790

G

integrin alpha FG-GAP repeat containing 2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,933,741...41,944,464
Ensembl chr27:41,934,575...41,944,472

G

potassium voltage-gated channel subfamily A member 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:39,928,347...39,936,753
Ensembl chr27:39,933,825...39,935,312

G

potassium voltage-gated channel subfamily A member 5

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:39,808,987...39,810,789
Ensembl chr27:39,756,363...39,811,035

G

potassium voltage-gated channel subfamily A member 6

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,042,051...40,045,812
Ensembl chr27:40,044,334...40,045,812

G

lysine demethylase 5A

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:42,364,606...42,447,839
Ensembl chr27:42,360,456...42,447,821

G

klotho

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098

NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558

G

killer cell lectin like receptor G1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:36,741,379...36,781,049
Ensembl chr27:36,741,767...36,766,637

G

lymphocyte activating 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,260,673...38,266,771
Ensembl chr27:38,260,674...38,265,819

G

small nucleolar RNA U89

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

G

small nucleolar RNA U85

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

G

small Cajal body-specific RNA 11

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

G

acyl-coenzyme A synthetase ACSM4, mitochondrial

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr 6:24,616,607...24,639,441
Ensembl chr 6:24,616,610...24,639,255

G

C-type lectin domain family 4 member D

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,520,289...37,559,920
Ensembl chr27:37,551,064...37,558,847

G

C-type lectin domain family 4 member E

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,561,445...37,568,652
Ensembl chr27:37,563,038...37,568,463

G

antigen WC1.1-like

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,777,592...37,809,738

G

lysophosphatidic acid receptor 5

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,389,803...38,402,412

G

lysophosphatidylcholine acyltransferase 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,028,438...38,068,854
Ensembl chr27:38,028,120...38,068,502

G

leucine rich repeat containing 23

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,128,954...38,144,481
Ensembl chr27:38,129,203...38,134,676

G

leucine rich repeats and transmembrane domains 2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:43,870,799...43,887,584
Ensembl chr27:43,877,684...43,887,595

G

lymphotoxin beta receptor

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,598,725...38,605,829
Ensembl chr27:38,599,268...38,605,780

G

mannose-6-phosphate receptor, cation dependent

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:36,787,745...36,796,194
Ensembl chr27:36,786,981...36,796,770

G

microfibril associated protein 5

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,028,518...37,042,657
Ensembl chr27:37,028,037...37,040,592

G

microRNA mir-200c

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,082,097...38,082,159
Ensembl chr27:38,082,091...38,082,169

G

myeloid leukemia factor 2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,284,495...38,289,125
Ensembl chr27:38,284,534...38,288,851

G

mitochondrial ribosomal protein L51

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,497,499...38,499,089
Ensembl chr27:38,497,499...38,499,067

G

Nanog homeobox

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,262,558...37,266,449

G

NANOG neighbor homeobox

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,225,807...37,229,457

G

non-SMC condensin I complex subunit D2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,475,145...38,497,818
Ensembl chr27:38,475,155...38,496,312

G

NADH:ubiquinone oxidoreductase subunit A9

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,176,090...40,217,293
Ensembl chr27:40,167,293...40,217,190

G

NECAP endocytosis associated 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,460,545...37,472,512
Ensembl chr27:37,460,607...37,507,052

G

ninjurin 2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:42,604,615...42,686,693
Ensembl chr27:42,605,501...42,642,827

G

NOP2 nucleolar protein

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,441,259...38,453,946
Ensembl chr27:38,441,690...38,453,824

G

nuclear receptor interacting protein 2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,925,083...41,933,475
Ensembl chr27:41,925,730...41,931,669

G

neurotrophin 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601

G

prolyl 3-hydroxylase 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,182,642...38,195,173
Ensembl chr27:38,182,856...38,194,902

G

poly(ADP-ribose) polymerase family member 11

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,982,462...41,029,264
Ensembl chr27:40,943,824...41,026,800

G

peroxisomal biogenesis factor 5

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,843,218...37,860,664
Ensembl chr27:37,809,717...37,860,376

G

prohibitin 2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,075,769...38,080,440
Ensembl chr27:38,075,652...38,080,109

G

polyhomeotic homolog 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:36,797,327...36,816,726
Ensembl chr27:36,797,927...36,819,386

G

PILR alpha associated neural protein

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,339,720...38,342,900
Ensembl chr27:38,341,011...38,343,572

G

pleckstrin homology and RhoGEF domain containing G6

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,654,879...38,670,553
Ensembl chr27:38,654,886...38,670,354

G

protein arginine methyltransferase 8

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,245,480...41,338,437
Ensembl chr27:41,246,287...41,430,680

G

parathymosin

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,268,296...38,284,921

G

protein tyrosine phosphatase non-receptor type 6

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937

G

RAD51 associated protein 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,303,935...40,341,666
Ensembl chr27:40,303,992...40,341,526

G

RAD52 homolog, DNA repair protein

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:42,915,334...43,032,293
Ensembl chr27:42,915,634...42,951,323

G

retinol binding protein 5

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,908,056...37,911,805
Ensembl chr27:37,908,067...37,911,516

G

RAD9-HUS1-RAD1 interacting nuclear orphan 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,885,779...41,906,252
Ensembl chr27:41,886,052...41,891,759

G

ribosomal modification protein rimK like family member B

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:36,924,323...37,092,351
Ensembl chr27:36,931,987...36,993,355

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980

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solute carrier family 2 member 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410

G

solute carrier family 6 member 12

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:42,270,427...42,301,874
Ensembl chr27:42,270,448...42,336,464

G

solute carrier family 6 member 13

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:42,302,762...42,338,911
Ensembl chr27:42,270,448...42,336,464

G

splA/ryanodine receptor domain and SOCS box containing 2

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,134,855...38,154,520
Ensembl chr27:38,151,906...38,154,529

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TAP binding protein like

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,526,968...38,534,585
Ensembl chr27:38,526,528...38,535,937

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TEA domain transcription factor 4

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,744,100...41,783,223
Ensembl chr27:41,748,871...41,803,556

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testis expressed 52

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,906,180...41,923,316
Ensembl chr27:41,906,315...41,912,287

G

TP53 induced glycolysis regulatory phosphatase

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:40,521,751...40,549,304
Ensembl chr27:40,523,314...40,549,332

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282

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triosephosphate isomerase 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137

G

tetraspanin 9

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,526,757...41,684,909
Ensembl chr27:41,529,151...41,611,686

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TUB like protein 3

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:41,819,574...41,884,198
Ensembl chr27:41,819,455...41,884,097

G

ubiquitin specific peptidase 5

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,158,850...38,172,689
Ensembl chr27:38,158,834...38,172,071

G

vesicle associated membrane protein 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,518,978...38,526,361
Ensembl chr27:38,518,974...38,559,455

G

von Willebrand factor

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142

G

WNK lysine deficient protein kinase 1

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:42,764,184...42,914,591
Ensembl chr27:42,765,181...42,912,806

G

Wnt family member 5B

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:43,662,482...43,679,713
Ensembl chr27:43,620,284...43,677,078

G

zinc finger protein 384

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1

PMID:25378588 PMID:29389098

NCBI chr27:38,350,050...38,369,338
Ensembl chr27:38,349,803...38,369,341

Hyperphosphatemic Familial Tumoral Calcinosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 23

ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2

PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 More...

NCBI chr27:40,501,655...40,511,785
Ensembl chr27:40,501,731...40,509,766

Hyperphosphatemic Familial Tumoral Calcinosis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

klotho

ClinVar Annotator: match by term: KL-related condition | ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3

PMID:9536098 PMID:17576681 PMID:17710231 PMID:25741868 PMID:28492532 More...

NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558

Idiopathic Basal Ganglia Calcification 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cholinergic receptor nicotinic alpha 6 subunit

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr16:22,990,377...23,009,257
Ensembl chr16:22,990,167...23,009,106

G

cholinergic receptor nicotinic beta 3 subunit

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr16:23,021,652...23,040,907
Ensembl chr16:23,021,645...23,048,347

G

dual oxidase 2

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716

G

farnesyltransferase, CAAX box, subunit alpha

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr16:22,739,070...22,767,942
Ensembl chr16:22,739,079...22,767,914

G

hook microtubule tethering protein 3

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr16:22,791,198...22,940,168
Ensembl chr16:22,784,267...22,901,991

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3

PMID:25741868 PMID:28492532

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

G

ring finger protein 170

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr16:22,901,224...22,929,990
Ensembl chr16:22,900,313...22,927,125

G

solute carrier family 20 member 2

ClinVar Annotator: match by term: Ferrocalcinosis, cerebrovascular | ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition

PMID:10441584 PMID:11344012 PMID:11810290 PMID:15596772 PMID:16199547 More...

NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775

G

small integral membrane protein 19

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

PMID:25741868 PMID:27726124

NCBI chr16:23,152,852...23,165,554
Ensembl chr16:23,153,968...23,165,771

G

THAP domain containing 1

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582

Idiopathic Basal Ganglia Calcification 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytidine/uridine monophosphate kinase 2

ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE

NCBI chr17:4,466,615...4,478,546

Idiopathic Basal Ganglia Calcification 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4

PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 More...

NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283

Idiopathic Basal Ganglia Calcification 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5

PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868 More...

NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746

Idiopathic Basal Ganglia Calcification 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

xenotropic and polytropic retrovirus receptor 1

ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related condition | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification

PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906

NCBI chr 7:14,165,608...14,379,822
Ensembl chr 7:14,165,608...14,379,822

Idiopathic Basal Ganglia Calcification 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myogenesis regulating glycosidase

ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition

PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 More...

NCBI chr11:51,070,088...51,077,595
Ensembl chr11:51,071,707...51,073,851

Idiopathic Basal Ganglia Calcification 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

junctional adhesion molecule 2

ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition

PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645

NCBI chr31:21,137,378...21,198,278
Ensembl chr31:21,137,363...21,197,668

Idiopathic Basal Ganglia Calcification 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-alpha-acetyltransferase 60, NatF catalytic subunit

ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 9, autosomal recessive

NCBI chr 6:37,759,233...37,784,224
Ensembl chr 6:37,761,497...37,793,290

Idiopathic Basal Ganglia Calcification, Childhood Onset

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon induced with helicase C domain 1

ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset

PMID:25741868 PMID:28492532

NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048

immunodeficiency 38

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913

G

actin related protein T2

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395

G

agrin

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745

G

ankyrin repeat domain 65

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376

G

Rho guanine nucleotide exchange factor 16

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,031,246...58,051,936
Ensembl chr 5:58,030,459...58,051,936

G

ATPase family AAA domain containing 3A

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746

G

aurora kinase A interacting protein 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388

G

beta-1,3-galactosyltransferase 6

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771

G

C1q and TNF related 12

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339

G

chromosome 5 C1orf159 homolog

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616

G

calmodulin like 6

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424

G

coiled-coil domain containing 27

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,266,091...58,280,997
Ensembl chr 5:58,269,308...58,279,829

G

cyclin L2

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691

G

cyclin dependent kinase 11

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,698,267...56,714,075

G

centrosomal protein 104

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438

G

cilia and flagella associated protein 74

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903

G

ceramide-1-phosphate transfer protein

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491

G

FA core complex associated protein 20

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,114,784...57,122,854

G

fibronectin type III domain containing 10

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,660,721...56,662,696

G

gamma-aminobutyric acid type A receptor subunit delta

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358

G

G protein subunit beta 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295

G

hes family bHLH transcription factor 4

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,221,509...56,226,938
Ensembl chr 5:56,225,497...56,226,772

G

hes family bHLH transcription factor 5

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388

G

integrator complex subunit 11

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017

G

ISG15 ubiquitin like modifier

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More...

NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695

G

kelch like family member 17

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983

G

leucine rich repeat containing 47

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,286,909...58,297,961
Ensembl chr 5:58,288,392...58,297,996

G

multiple EGF like domains 6

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,058,833...58,145,855
Ensembl chr 5:58,059,031...58,146,193

G

MIB E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544

G

microRNA mir-200a

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151

G

microRNA mir-200b

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479

G

membrane metalloendopeptidase like 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911

G

matrix metallopeptidase 23

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284

G

MORN repeat containing 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669

G

mitochondrial ribosomal protein L20

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136

G

matrix remodeling associated 8

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668

G

NAD kinase

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529

G

NOC2 like nucleolar associated transcriptional repressor

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,172,399...56,185,993
Ensembl chr 5:56,172,446...56,185,932

G

pantothenate kinase 4 (inactive)

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802

G

phospholipase C eta 2

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468

G

pleckstrin homology domain containing N1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,193,824...56,202,340
Ensembl chr 5:56,194,583...56,202,293

G

PR/SET domain 16

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976

G

protein kinase C zeta

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664

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peroxiredoxin like 2B

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210

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pseudouridine synthase like 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783

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retention in endoplasmic reticulum sorting receptor 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870

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ring finger protein 223

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,290,548...56,293,473

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sterile alpha motif domain containing 11

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,119,207...56,175,267
Ensembl chr 5:56,151,171...56,172,055

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sodium channel epithelial 1 subunit delta

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595

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stromal cell derived factor 4

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430

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SKI proto-oncogene

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403

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solute carrier family 35 member E2

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420

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small integral membrane protein 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,281,962...58,285,071
Ensembl chr 5:58,282,347...58,284,616

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SSU72 homolog, RNA polymerase II CTD phosphatase

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131

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taste 1 receptor member 3

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898

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transmembrane protein 240

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693

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transmembrane protein 52

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500

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transmembrane protein 88B

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310

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TNF receptor superfamily member 14

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512

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TNF receptor superfamily member 18

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,394,559...56,3