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 (552)

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 chr 3:183,644,223...183,652,620
Ensembl chr 3:192,110,770...192,119,915

G

alkaline phosphatase, biomineralization associated

CTD Direct Evidence: marker/mechanism

NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688

G

bone gamma-carboxyglutamate protein

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

PMID:18422975 PMID:20197689 PMID:21335463

RGD:6483566 RGD:9068449

NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432

G

bone morphogenetic protein 2

CTD Direct Evidence: marker/mechanism

PMID:30963258 PMID:31843813

NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610

G

bone morphogenetic protein 4

protein:increased expression:dermis:

NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752

G

complement C6

CTD Direct Evidence: marker/mechanism

NCBI chr 5:69,174,411...69,245,801
Ensembl chr 5:74,216,244...74,288,588

G

caspase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

C-C motif chemokine ligand 15

CTD Direct Evidence: marker/mechanism

NCBI chr17:20,793,702...20,809,383
Ensembl chr17:21,089,791...21,095,047

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

PMID:21193197 PMID:21335463

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

collagen type XVIII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr21:31,720,358...31,834,470

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

CST telomere replication complex component 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537

G

catenin beta 1

protein:increased expression:dermis:

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

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733

G

erythropoietin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

erb-b2 receptor tyrosine kinase 2

associated with Breast Neoplasms;protein:increased expression:breast

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

G

Fc gamma receptor Ia

CTD Direct Evidence: marker/mechanism

NCBI chr 1:125,127,073...125,136,911
Ensembl chr 1:128,805,484...128,814,220

G

fibroblast growth factor 23

CTD Direct Evidence: marker/mechanism

NCBI chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000

G

polypeptide N-acetylgalactosaminyltransferase 3

CTD Direct Evidence: marker/mechanism

NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231

G

glutathione peroxidase 1

susceptibility

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

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

interleukin 18

CTD Direct Evidence: marker/mechanism

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

integrin subunit beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963

G

Janus kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

G

klotho

CTD Direct Evidence: marker/mechanism

NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458

G

lipocalin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798

G

lymphocyte specific protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:1,889,625...1,931,192
Ensembl chr11:1,921,905...1,963,192

G

lymphocyte antigen 86

CTD Direct Evidence: marker/mechanism

NCBI chr 6:6,429,846...6,496,664
Ensembl chr 6:6,610,431...6,676,696

G

matrix Gla protein

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

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

PMID:15545515 PMID:21193197

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

CTD Direct Evidence: marker/mechanism

PMID:15545515 PMID:21193197

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

nuclear receptor subfamily 1 group I member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,901,579...116,940,366
Ensembl chr 3:123,815,135...123,853,129

G

platelet derived growth factor subunit B

CTD Direct Evidence: marker/mechanism

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

platelet derived growth factor receptor beta

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706

G

protein tyrosine phosphatase non-receptor type 6

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr16:23,764,386...23,765,732
Ensembl chr16:31,571,363...31,573,828

G

receptor interacting serine/threonine kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821

G

solute carrier family 20 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456

G

solute carrier family 22 member 6

CTD Direct Evidence: marker/mechanism

NCBI chr11:58,328,476...58,336,887
Ensembl chr11:61,680,016...61,688,223

G

snail family transcriptional repressor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:45,341,857...45,345,544
Ensembl chr 8:42,723,971...42,730,904

G

secreted protein acidic and cysteine rich

protein:increased expression:dermis:

NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750

G

sialophorin

CTD Direct Evidence: marker/mechanism

Ensembl chr16:30,035,243...30,036,445

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 chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419

G

TIMP metallopeptidase inhibitor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

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

G

xenotropic and polytropic retrovirus receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:156,121,029...156,367,565
Ensembl chr 1:159,790,170...160,029,208

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 1:129,937,993...129,983,747

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 chr 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351

G

interferon induced with helicase C domain 1

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

NCBI chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170

G

lysine acetyltransferase 5

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

NCBI chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667

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 chr19:12,363,721...12,375,316
Ensembl chr19:13,112,242...13,119,514

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 chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909

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 chr11:61,076,731...61,079,994
Ensembl chr11:64,411,804...64,413,819

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 chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314

G

TBC/LysM-associated domain containing 2

ClinVar Annotator: match by term: Aicardi Goutieres syndrome

PMID:25741868 PMID:28492532

NCBI chr20:33,204,182...33,221,160
Ensembl chr20:34,321,315...34,342,664

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 chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

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 chr 3:49,648,967...49,652,285
Ensembl chr 3:50,885,925...50,887,439

G

aminomethyltransferase

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968

G

acylaminoacyl-peptide hydrolase

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,606,294...49,615,896
Ensembl chr 3:50,843,220...50,853,516

G

ariadne RBR E3 ubiquitin protein ligase 2

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,844,161...48,910,183
Ensembl chr 3:49,926,453...49,991,924

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 chr 3:48,368,775...48,387,698
Ensembl chr 3:49,450,991...49,469,351

G

bassoon presynaptic cytomatrix protein

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,483,652...49,603,928
Ensembl chr 3:50,790,552...50,841,178

G

chromosome 2 C3orf62 homolog

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,191,640...49,199,806
Ensembl chr 3:50,273,460...50,279,995

G

CaM kinase like vesicle associated

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,789,838...49,801,795
Ensembl chr 3:51,026,111...51,038,064

G

coiled-coil domain containing 71

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,085,870...49,089,723

G

cadherin related family member 4

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,722,563...49,734,040
Ensembl chr 3:50,958,548...50,967,792

G

cadherin EGF LAG seven-pass G-type receptor 3

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,557,976...48,586,051
Ensembl chr 3:49,639,942...49,667,335

G

ciliary microtubule inner protein 7

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,100,962...49,115,215
Ensembl chr 3:50,180,907...50,195,215

G

collagen type VII alpha 1 chain

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

PMID:16845398 PMID:28492532

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

G

dystroglycan 1

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852

G

DALR anticodon binding domain containing 3

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,940,126...48,945,717
Ensembl chr 3:50,021,669...50,024,522

G

DNA cross-link repair 1C

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

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

NCBI chr10:14,901,335...14,956,947
Ensembl chr10:15,236,558...15,269,043

G

GDP-mannose pyrophosphorylase B

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969

G

G protein subunit alpha i2

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

PMID:16845398 PMID:28492532

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

G

G protein subunit alpha transducin 1

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

PMID:16845398 PMID:28492532

NCBI chr 3:50,119,267...50,126,131
Ensembl chr 3:51,354,472...51,360,568

G

glutathione peroxidase 1

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

G

hyaluronidase 1

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

PMID:16845398 PMID:28492532

NCBI chr 3:50,228,491...50,238,798
Ensembl chr 3:51,463,239...51,467,286

G

hyaluronidase 3

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

PMID:16845398 PMID:28492532

NCBI chr 3:50,221,428...50,228,062
Ensembl chr 3:51,456,173...51,462,815

G

interferon related developmental regulator 2

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

PMID:16845398 PMID:28492532

NCBI chr 3:50,216,335...50,221,186
Ensembl chr 3:51,451,086...51,455,934

G

interactor of HORMAD1 1

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,122,120...49,181,228
Ensembl chr 3:50,239,250...50,259,890

G

inosine monophosphate dehydrogenase 2

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,948,965...48,954,276
Ensembl chr 3:50,030,303...50,035,676

G

inka box actin regulator 1

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,734,616...49,736,838
Ensembl chr 3:50,971,394...50,972,993

G

inositol hexakisphosphate kinase 1

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,656,438...49,718,423
Ensembl chr 3:50,892,279...50,954,149

G

inositol hexakisphosphate kinase 2

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,608,902...48,638,185
Ensembl chr 3:49,690,486...49,719,798

G

kelch domain containing 8B

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,094,203...49,099,818
Ensembl chr 3:50,174,393...50,179,759

G

laminin subunit beta 2

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074

G

ubiquitin carboxyl-terminal hydrolase 4

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,199,328...49,263,861
Ensembl chr 3:50,279,642...50,343,903

G

cytochrome b-c1 complex subunit 1, mitochondrial

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,520,870...48,531,947
Ensembl chr 3:49,602,770...49,613,717

G

ARIH2 opposite strand lncRNA

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,843,126...48,845,424
Ensembl chr 3:49,925,886...49,926,758

G

leucine rich single-pass membrane protein 2

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

PMID:16845398 PMID:28492532

NCBI chr 3:50,206,431...50,216,716
Ensembl chr 3:51,441,739...51,451,467

G

MON1 homolog A, secretory trafficking associated

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,840,824...49,862,101
Ensembl chr 3:51,077,398...51,099,498

G

macrophage stimulating 1

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,616,339...49,621,749

G

macrophage stimulating 1 receptor

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,818,538...49,835,713
Ensembl chr 3:51,054,795...51,072,401

G

N-alpha-acetyltransferase 80, NatH catalytic subunit

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

PMID:16845398 PMID:28492532

NCBI chr 3:50,225,000...50,228,015
Ensembl chr 3:51,459,748...51,462,764

G

NCK interacting protein with SH3 domain

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,586,112...48,606,811
Ensembl chr 3:49,676,282...49,688,548

G

NADH:ubiquinone oxidoreductase complex assembly factor 3

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260

G

nicolin 1, tubulin polyglutamylase complex subunit

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,350,753...49,357,161
Ensembl chr 3:50,595,232...50,601,612

G

prolyl 4-hydroxylase, transmembrane

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,914,547...48,931,723
Ensembl chr 3:49,993,219...50,013,272

G

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

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,439,542...48,479,501
Ensembl chr 3:49,521,550...49,560,711

G

protein kinase cAMP-dependent type II regulatory subunit alpha

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,665,421...48,774,111
Ensembl chr 3:49,747,611...49,854,382

G

glutaminyl-tRNA synthetase 1

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112

G

glutamine rich 1

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,954,345...49,018,745
Ensembl chr 3:50,035,676...50,097,596

G

RNA binding motif protein 5

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

PMID:16845398 PMID:28492532

NCBI chr 3:50,017,199...50,047,248
Ensembl chr 3:51,251,911...51,282,338

G

RNA binding motif protein 6

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,872,120...50,007,835
Ensembl chr 3:51,135,198...51,243,169

G

ras homolog family member A

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,282,009...49,339,887

G

ribonuclease H2 subunit B

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

NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909

G

ring finger protein 123

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,621,909...49,653,668
Ensembl chr 3:50,865,022...50,889,509

G

semaphorin 3B

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

PMID:16845398 PMID:28492532

NCBI chr 3:50,196,147...50,205,744
Ensembl chr 3:51,430,287...51,439,886

G

semaphorin 3F

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

PMID:16845398 PMID:28492532

NCBI chr 3:50,083,733...50,117,518
Ensembl chr 3:51,318,089...51,351,958

G

shisa family member 5

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,389,924...48,426,064
Ensembl chr 3:49,471,604...49,508,840

G

solute carrier family 25 member 20

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,782,960...48,824,616
Ensembl chr 3:49,863,259...49,901,839

G

solute carrier family 26 member 6

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,547,277...48,557,099
Ensembl chr 3:49,629,237...49,639,039

G

solute carrier family 38 member 3

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

PMID:16845398 PMID:28492532

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

G

T cell leukemia translocation altered

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,340,010...49,344,288

G

transmembrane protein 89

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,542,058...48,543,674
Ensembl chr 3:49,624,215...49,625,444

G

TRAF interacting protein

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

PMID:16845398 PMID:28492532

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

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 chr 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331

G

ubiquitin like modifier activating enzyme 7

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,737,015...49,745,783
Ensembl chr 3:50,973,211...50,981,997

G

urocortin 2

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

PMID:16845398 PMID:28492532

NCBI chr 3:48,484,628...48,485,179

G

ubiquitin specific peptidase 19

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

PMID:16845398 PMID:28492532

NCBI chr 3:49,032,373...49,045,238
Ensembl chr 3:50,100,216...50,125,112

G

WD repeat domain 6

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

PMID:16845398 PMID:28492532

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

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 chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909

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 chr11:61,905,722...61,922,227
Ensembl chr11:65,228,713...65,245,429

G

aminoacylase 3

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

NCBI chr11:63,003,244...63,011,737
Ensembl chr11:66,314,527...66,322,759

G

aryl hydrocarbon receptor interacting protein

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

NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898

G

aldehyde dehydrogenase 3 family member B2

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

NCBI chr11:63,022,475...63,042,873
Ensembl chr11:66,334,197...66,345,987

G

ankyrin repeat domain 13D

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

NCBI chr11:62,647,609...62,660,766
Ensembl chr11:65,959,474...65,974,345

G

anoctamin 1

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

NCBI chr11:65,064,415...65,287,160
Ensembl chr11:68,473,555...68,576,451

G

adaptor related protein complex 5 subunit beta 1

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

PMID:28492532 PMID:28600438

NCBI chr11:61,132,012...61,139,078

G

beta-1,4-glucuronyltransferase 1

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

NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678

G

barrier to autointegration nuclear assembly factor 1

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

NCBI chr11:61,366,480...61,368,547
Ensembl chr11:64,693,447...64,695,509

G

Bardet-Biedl syndrome 1

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

NCBI chr11:61,868,257...61,892,473
Ensembl chr11:65,192,355...65,216,274

G

BRMS1 transcriptional repressor and anoikis regulator

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

NCBI chr11:61,703,021...61,710,784
Ensembl chr11:65,028,407...65,036,163

G

chromosome 9 C11orf24 homolog

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

NCBI chr11:63,343,911...63,355,102
Ensembl chr11:66,651,896...66,662,867

G

chromosome 9 C11orf68 homolog

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

NCBI chr11:61,277,154...61,279,408

G

chromosome 9 C11orf86 homolog

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

NCBI chr11:62,334,288...62,336,145
Ensembl chr11:65,655,645...65,657,492

G

calcium binding protein 2

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

NCBI chr11:62,877,978...62,882,653

G

calcium binding protein 4

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

NCBI chr11:62,813,477...62,820,425
Ensembl chr11:66,121,992...66,128,758

G

calpain 1

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

NCBI chr11:60,545,837...60,576,631
Ensembl chr11:63,886,015...63,916,021

G

carnosine synthase 1

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

NCBI chr11:62,774,027...62,784,066
Ensembl chr11:66,085,594...66,097,970

G

cation channel sperm associated 1

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

NCBI chr11:61,381,175...61,391,455
Ensembl chr11:64,707,912...64,717,689

G

coiled-coil domain containing 85B

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

NCBI chr11:61,250,913...61,251,926

G

coiled-coil domain containing 87

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

NCBI chr11:61,946,954...61,949,840

G

cyclin D1

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

NCBI chr11:64,737,006...64,750,353

G

copper chaperone for superoxide dismutase

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

NCBI chr11:61,949,928...61,963,519
Ensembl chr11:65,273,744...65,287,406

G

CD248 molecule

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

NCBI chr11:61,680,049...61,682,614
Ensembl chr11:65,005,716...65,008,346

G

CDC42 effector protein 2

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

NCBI chr11:60,679,582...60,686,763
Ensembl chr11:64,024,281...64,024,913

G

cyclin dependent kinase 2 associated protein 2

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

NCBI chr11:62,865,554...62,867,756
Ensembl chr11:66,176,917...66,179,154

G

cofilin 1

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

PMID:28492532 PMID:28600438

NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806

G

choline kinase alpha

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

NCBI chr11:63,134,776...63,202,516
Ensembl chr11:66,444,406...66,510,221

G

cardiotrophin like cytokine factor 1

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

NCBI chr11:62,722,611...62,734,279

G

cornichon family AMPA receptor auxiliary protein 2

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

NCBI chr11:61,643,633...61,649,646
Ensembl chr11:64,969,447...64,975,156

G

coronin 1B

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

NCBI chr11:62,796,461...62,802,204
Ensembl chr11:66,108,924...66,113,175

G

carnitine palmitoyltransferase 1A

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

NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481

G

cystatin E/M

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

NCBI chr11:61,375,744...61,377,909
Ensembl chr11:64,703,412...64,704,762

G

cathepsin F

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

NCBI chr11:61,922,361...61,927,520
Ensembl chr11:65,246,031...65,250,786

G

cathepsin W

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

NCBI chr11:61,239,862...61,244,034
Ensembl chr11:64,569,587...64,573,534

G

double PHD fingers 2

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

NCBI chr11:60,698,580...60,717,800
Ensembl chr11:64,037,108...64,055,727

G

dipeptidyl peptidase 3

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

NCBI chr11:61,836,463...61,867,303
Ensembl chr11:65,161,892...65,191,398

G

DR1 associated protein 1

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

NCBI chr11:61,279,681...61,281,881
Ensembl chr11:64,608,245...64,610,031

G

EGF containing fibulin extracellular matrix protein 2

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

PMID:28492532 PMID:28600438

NCBI chr11:61,226,755...61,233,181
Ensembl chr11:64,555,877...64,561,950

G

EH domain binding protein 1 like 1

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

PMID:28492532 PMID:28600438

NCBI chr11:60,935,156...60,951,756
Ensembl chr11:64,273,027...64,285,950

G

eukaryotic translation initiation factor 1A domain containing

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

NCBI chr11:61,356,142...61,366,589
Ensembl chr11:64,689,797...64,693,534

G

Fas associated via death domain

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

NCBI chr11:65,300,889...65,305,020

G

family with sequence similarity 89 member B

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

PMID:28492532 PMID:28600438

NCBI chr11:60,931,592...60,933,317

G

fibroblast growth factor 19

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

NCBI chr11:64,794,157...64,800,512
Ensembl chr11:68,085,306...68,090,028

G

fibroblast growth factor 3

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

NCBI chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042

G

fibroblast growth factor 4

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

NCBI chr11:64,866,649...64,871,031

G

FGF1 intracellular binding protein

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

NCBI chr11:61,244,175...61,248,805
Ensembl chr11:64,573,537...64,578,328

G

FOS like 1, AP-1 transcription factor subunit

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

NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304

G

FERM domain containing 8

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

NCBI chr11:60,750,470...60,777,690
Ensembl chr11:64,087,206...64,114,367

G

galanin and GMAP prepropeptide

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

NCBI chr11:63,770,758...63,777,421
Ensembl chr11:67,075,547...67,081,696

G

galactose-3-O-sulfotransferase 3

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

NCBI chr11:61,406,398...61,413,733

G

G protein-coupled receptor 152

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

NCBI chr11:62,809,666...62,811,481
Ensembl chr11:66,120,889...66,122,301

G

G protein-coupled receptor kinase 2

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

NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066

G

glutathione S-transferase pi 1

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

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

immunoglobulin mu DNA binding protein 2

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

NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659

G

lysine acetyltransferase 5

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

PMID:25741868 PMID:28492532 PMID:28600438

NCBI chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667

G

potassium two pore domain channel subfamily K member 7

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

PMID:28492532 PMID:28600438

NCBI chr11:60,951,961...60,955,240
Ensembl chr11:64,286,502...64,289,662

G

lysine demethylase 2A

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

NCBI chr11:62,470,549...62,616,135
Ensembl chr11:65,793,464...65,930,498

G

lysine methyltransferase 5B

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

NCBI chr11:63,239,796...63,297,113
Ensembl chr11:66,549,230...66,581,475

G

phosphofurin acidic cluster sorting protein 1

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

NCBI chr11:61,434,702...61,633,334
Ensembl chr11:64,884,048...64,935,947
Ensembl chr11:64,884,048...64,935,947

G

aldehyde dehydrogenase family 3 member B1

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

NCBI chr11:63,087,090...63,111,239
Ensembl chr11:66,404,184...66,419,759

G

leucine rich repeat and fibronectin type III domain containing 4

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

NCBI chr11:62,214,340...62,217,742
Ensembl chr11:65,536,427...65,539,629

G

LDL receptor related protein 5

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

NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817

G

latent transforming growth factor beta binding protein 3

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

PMID:28492532 PMID:28600438

NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802

G

LTO1 maturation factor of ABCE1

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

NCBI chr11:64,761,465...64,771,618
Ensembl chr11:68,040,388...68,062,509

G

mitogen-activated protein kinase kinase kinase 11

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

PMID:28492532 PMID:28600438

NCBI chr11:60,956,880...60,973,972
Ensembl chr11:64,291,635...64,307,737

G

MAS related GPR family member D

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

NCBI chr11:64,069,508...64,070,765
Ensembl chr11:67,370,432...67,371,397

G

MAS related GPR family member F

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

NCBI chr11:64,090,299...64,103,063
Ensembl chr11:67,391,018...67,403,746

G

mitochondrial ribosomal protein L11

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

NCBI chr11:61,793,509...61,796,539
Ensembl chr11:65,117,818...65,120,915

G

mitochondrial ribosomal protein L21

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

NCBI chr12:65,651,607...65,652,723
Ensembl chr11:67,282,341...67,294,289

G

MUS81 structure-specific endonuclease subunit

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

PMID:28492532 PMID:28600438

NCBI chr11:61,220,699...61,226,747
Ensembl chr11:64,549,840...64,555,875

G

myeloma overexpressed

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

NCBI chr11:64,389,456...64,391,693
Ensembl chr11:67,686,713...67,687,750

G

NADH:ubiquinone oxidoreductase core subunit S8

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

NCBI chr11:63,112,536...63,118,600
Ensembl chr11:66,421,378...66,427,101

G

NADH:ubiquinone oxidoreductase core subunit V1

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

NCBI chr11:62,964,970...62,970,605
Ensembl chr11:66,276,638...66,282,320

G

neuronal PAS domain protein 4

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

NCBI chr11:61,778,329...61,784,010
Ensembl chr11:65,103,097...65,108,825

G

nudix hydrolase 8

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

NCBI chr11:62,988,580...62,990,780
Ensembl chr11:66,299,863...66,301,893

G

ovo like transcriptional repressor 1

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

PMID:28492532 PMID:28600438

NCBI chr11:61,144,969...61,156,706
Ensembl chr11:64,478,549...64,488,647

G

pyruvate carboxylase

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

NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396

G

pecanex 3

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

PMID:28492532 PMID:28600438

NCBI chr11:60,974,933...60,996,632
Ensembl chr11:64,310,292...64,330,943

G

pellino E3 ubiquitin protein ligase family member 3

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

NCBI chr11:61,824,463...61,834,930
Ensembl chr11:65,148,441...65,159,211

G

phosphatidylinositol transfer protein membrane associated 1

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

NCBI chr11:62,850,323...62,864,421
Ensembl chr11:66,161,828...66,174,677

G

DNA polymerase alpha 2, accessory subunit

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

NCBI chr11:60,626,555...60,670,716
Ensembl chr11:63,966,531...64,001,335

G

DNA polymerase delta 4, accessory subunit

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

NCBI chr11:62,709,988...62,712,038
Ensembl chr11:66,022,395...66,024,442

G

protein phosphatase 1 catalytic subunit alpha

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

NCBI chr11:62,756,659...62,760,369
Ensembl chr11:66,068,007...66,071,611

G

protein phosphatase 6 regulatory subunit 3

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

NCBI chr11:63,545,513...63,699,434
Ensembl chr11:66,925,634...67,004,292

G

protein tyrosine phosphatase receptor type C associated protein

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

NCBI chr11:62,793,934...62,796,321
Ensembl chr11:66,106,069...66,108,527

G

RAB1B, member RAS oncogene family

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

NCBI chr11:61,634,017...61,642,945
Ensembl chr11:64,959,957...64,968,843

G

RAD9 checkpoint clamp component A

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

NCBI chr11:62,675,480...62,756,886
Ensembl chr11:66,061,208...66,068,214

G

RNA binding motif protein 14

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

Ensembl chr11:65,298,404...65,349,183

G

RNA binding motif protein 4

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

NCBI chr11:61,996,221...62,026,007
Ensembl chr11:65,298,404...65,349,183

G

RNA binding motif protein 4B

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

NCBI chr11:62,022,622...62,035,570
Ensembl chr11:65,345,796...65,358,473

G

Ras converting CAAX endopeptidase 1

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

NCBI chr11:62,101,228...62,203,793
Ensembl chr11:65,427,937...65,522,087
Ensembl chr11:65,427,937...65,522,087

G

RELA proto-oncogene, NF-kB subunit

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

PMID:28492532 PMID:28600438

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

ras homolog family member D

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

NCBI chr11:62,418,466...62,433,453
Ensembl chr11:65,736,668...65,754,761

G

Ras and Rab interactor 1

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

NCBI chr11:61,697,751...61,702,501
Ensembl chr11:65,023,138...65,027,605

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 chr11:61,076,731...61,079,994
Ensembl chr11:64,411,804...64,413,819

G

ribosomal protein S6 kinase B2

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

NCBI chr11:62,786,866...62,793,826
Ensembl chr11:66,099,553...66,105,967

G

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

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

NCBI chr11:61,326,262...61,343,475
Ensembl chr11:64,654,470...64,670,720

G

SCY1 like pseudokinase 1

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

NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413

G

splicing factor 3b subunit 2

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

NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772

G

signal-induced proliferation-associated 1

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

PMID:28492532 PMID:28600438

NCBI chr11:60,997,292...61,010,155
Ensembl chr11:64,335,136...64,344,955

G

solute carrier family 25 member 45

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

NCBI chr11:60,736,975...60,747,380
Ensembl chr11:64,075,675...64,082,750

G

solute carrier family 29 member 2

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

NCBI chr11:61,728,204...61,738,174
Ensembl chr11:65,054,041...65,063,540

G

sorting nexin 32

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

PMID:28492532 PMID:28600438

NCBI chr11:61,194,637...61,215,337
Ensembl chr11:64,524,219...64,543,249

G

spectrin beta, non-erythrocytic 2

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

NCBI chr11:62,042,617...62,086,634
Ensembl chr11:65,365,588...65,409,207

G

slingshot protein phosphatase 3

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

NCBI chr11:62,661,752...62,670,869
Ensembl chr11:65,975,486...65,983,716

G

synaptotagmin 12

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

NCBI chr11:62,383,485...62,412,451
Ensembl chr11:65,709,808...65,733,010

G

TBC1 domain family member 10C

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

NCBI chr11:62,762,075...62,768,569
Ensembl chr11:66,073,830...66,080,019

G

T-box transcription factor 10

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

NCBI chr11:62,991,902...62,996,794
Ensembl chr11:66,303,253...66,311,529

G

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

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

NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327

G

testis expressed metallothionein like protein

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

NCBI chr11:63,793,626...63,837,709
Ensembl chr11:67,097,731...67,141,863

G

tigger transposable element derived 3

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

NCBI chr11:60,718,678...60,722,729
Ensembl chr11:64,058,807...64,060,222

G

transmembrane protein 134

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

NCBI chr11:62,822,716...62,827,660
Ensembl chr11:66,133,604...66,138,678

G

transmembrane protein 151A

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

NCBI chr11:61,657,453...61,662,262
Ensembl chr11:64,983,084...64,987,816

G

TOP6B like initiator of meiotic double strand breaks

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

Ensembl chr11:65,427,937...65,522,087

G

two pore segment channel 2

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

NCBI chr11:64,139,512...64,227,913
Ensembl chr11:67,438,635...67,478,106

G

testis specific 10 interacting protein

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

NCBI chr11:61,305,860...61,326,214
Ensembl chr11:64,637,896...64,653,085

G

unc-93 homolog B1, TLR signaling regulator

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

NCBI chr11:63,073,076...63,086,078
Ensembl chr11:66,382,059...66,394,541

G

Yip1 interacting factor homolog A, membrane trafficking protein

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

NCBI chr11:61,650,020...61,656,674
Ensembl chr11:64,975,525...64,980,110

G

zinc finger DHHC-type containing 24

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

NCBI chr11:61,887,816...61,905,130
Ensembl chr11:65,209,614...65,228,434

G

zinc ribbon domain containing 2

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

PMID:28492532 PMID:28600438

NCBI chr11:60,928,869...60,930,875
Ensembl chr11:64,264,234...64,266,970

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 chr19:12,314,252...12,321,051
Ensembl chr19:13,060,133...13,066,033

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 chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729

G

calreticulin

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

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

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

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 chr19:12,529,830...12,536,052

G

deoxyhypusine synthase

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

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

NCBI chr19:12,237,882...12,243,903
Ensembl chr19:12,983,106...12,989,193

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 chr19:12,436,898...12,443,530
Ensembl chr19:13,180,073...13,185,650

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 chr19:12,484,607...12,496,160
Ensembl chr19:13,227,193...13,238,244

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 chr19:12,250,790...12,259,199
Ensembl chr19:12,996,061...13,003,564

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 chr19:12,516,581...12,519,673
Ensembl chr19:13,259,047...13,262,044

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 chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223

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 chr19:12,299,706...12,310,923
Ensembl chr19:13,045,570...13,055,908

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 chr19:12,325,578...12,340,754
Ensembl chr19:13,070,289...13,082,612

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 chr19:12,714,804...12,718,213
Ensembl chr19:13,452,239...13,452,910

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 chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974

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 chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425

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 chr19:12,660,548...12,664,513
Ensembl chr19:13,407,596...13,409,309

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 chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056

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 chr19:12,395,531...12,436,646
Ensembl chr19:13,138,382...13,179,569

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 chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679

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 chr19:12,557,020...12,660,316
Ensembl chr19:13,327,690...13,402,406

G

peroxiredoxin 2

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

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

NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369

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 chr19:12,508,232...12,516,068
Ensembl chr19:13,250,718...13,258,482

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 chr19:12,363,721...12,375,316
Ensembl chr19:13,112,242...13,119,514

G

retbindin

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

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

NCBI chr19:12,387,165...12,397,157
Ensembl chr19:13,129,659...13,139,842

G

syntaxin 10

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

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

NCBI chr19:12,707,389...12,713,681
Ensembl chr19:13,445,784...13,449,422

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 chr19:12,459,646...12,481,833
Ensembl chr19:13,203,595...13,224,052

G

transportin 2

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

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

NCBI chr19:12,261,026...12,286,571
Ensembl chr19:13,006,110...13,032,317

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 chr19:12,293,236...12,297,338
Ensembl chr19:13,038,837...13,046,866

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 chr19:12,666,426...12,679,454

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 chr19:12,231,876...12,237,997
Ensembl chr19:12,976,952...12,983,221

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 chr19:12,230,204...12,231,881
Ensembl chr19:12,975,314...12,976,896

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 chr20:33,839,246...33,849,833
Ensembl chr20:34,954,666...34,954,929

G

catenin beta like 1

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

NCBI chr20:34,015,883...34,192,958
Ensembl chr20:35,129,836...35,306,836

G

growth hormone releasing hormone

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

NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240

G

mannosidase beta like

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

NCBI chr20:33,611,280...33,638,990
Ensembl chr20:34,726,227...34,753,593

G

maestro heat like repeat family member 8

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

NCBI chr20:33,424,051...33,501,927
Ensembl chr20:34,539,392...34,617,182

G

neuronatin

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

NCBI chr20:33,842,071...33,845,575
Ensembl chr20:34,955,234...34,959,493

G

RB transcriptional corepressor like 1

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

NCBI chr20:33,324,663...33,419,891
Ensembl chr20:34,443,203...34,534,109

G

ribophorin II

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

NCBI chr20:33,501,275...33,563,523
Ensembl chr20:34,616,651...34,678,127

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 chr20:33,224,200...33,282,018
Ensembl chr20:34,341,367...34,398,314

G

SRC proto-oncogene, non-receptor tyrosine kinase

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

NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634

G

TBC/LysM-associated domain containing 2

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

PMID:25741868 PMID:28492532

NCBI chr20:33,204,182...33,221,160
Ensembl chr20:34,321,315...34,342,664

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 1:129,937,993...129,983,747

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 chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170

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 5:153,129,385...153,182,170

Aicardi-Goutieres Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 10 C12orf57 homolog

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

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

NCBI chr12:7,073,251...7,075,408
Ensembl chr12:6,978,576...6,990,580

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 chr17:62,474,317...62,537,800
Ensembl chr17:67,864,331...67,927,128

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 chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943

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 chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

angiotensinogen

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

ATP synthase F1 subunit delta

treatment

associated with Hypercholesterolemia

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644

G

gastrin releasing peptide

treatment

associated with chronic kidney disease

NCBI chr18:52,614,169...52,626,427
Ensembl chr18:55,942,263...55,953,188

G

gelsolin

disease_progression

protein:decreased expression:blood (human)

NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831

G

superoxide dismutase 1

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

NCBI chr21:18,029,831...18,037,526

G

superoxide dismutase 2

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

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

vitamin K epoxide reductase complex subunit 1

susceptibility

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

NCBI chr16:23,871,756...23,876,599
Ensembl chr16:31,459,560...31,464,897

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 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651

G

ectonucleotide pyrophosphatase/phosphodiesterase 1

mRNA:increased expression:aorta (rat)

NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644

G

GATA binding protein 5

ClinVar Annotator: match by term: Aortic valve disease 1

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

Ensembl chr20:60,148,359...60,158,886

G

interleukin 6

severity

NCBI chr 7:23,415,922...23,420,767

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 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

SMAD family member 6

ClinVar Annotator: match by term: Aortic valve disease 1

PMID:28492532 PMID:30796334

NCBI chr15:45,648,709...45,728,821
Ensembl chr15:63,923,379...64,001,154

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 chr 7:35,855,969...35,878,533

arterial calcification of infancy

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: Idiopathic infantile arterial calcification

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

NCBI chr 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644

basal ganglia calcification

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myogenesis regulating glycosidase (putative)

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

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

G

platelet derived growth factor receptor beta

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

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

G

solute carrier family 20 member 2

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

NCBI chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456

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 chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

CD40 ligand

treatment

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

delta like canonical Notch ligand 4

ameliorates

NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471

G

heat shock protein family D (Hsp60) member 1

severity

NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959

G

Meis homeobox 2

mRNA,protein:decreased expression:aortic valve:

NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477

G

notch receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

prostaglandin-endoperoxide synthase 2

disease_progression

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

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

parathyroid hormone

disease_progression

protein:increased expression:serum (rat)

NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802

G

protein tyrosine phosphatase non-receptor type 1

protein:increased expression:aortic valve (human)

NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421

G

solute carrier family 20 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,394,161...89,412,141
Ensembl chr2A:113,657,901...113,679,575

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

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

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 chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537

G

STN1 subunit of CST complex

CTD Direct Evidence: marker/mechanism

NCBI chr10:100,456,589...100,518,010
Ensembl chr10:103,942,422...103,977,847

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 chr17:43,410,385...43,433,784
Ensembl chr17:48,142,864...48,165,537

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 chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720

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 chr10:100,456,589...100,518,010
Ensembl chr10:103,942,422...103,977,847

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 chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558

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 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644

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

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

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

NCBI chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609

G

TNF receptor superfamily member 11b

severity

associated with Kidney Failure, Chronic

NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422

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 chr 4:56,348,370...56,433,433
Ensembl chr 4:62,741,812...62,826,197
Ensembl chr 4:62,741,812...62,826,197

G

fibrillin 1

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

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 (Augustine blood group)

OMIM:106400

NCBI chr 6:43,815,006...43,830,290
Ensembl chr 6:45,099,243...45,113,689

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

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 6:129,591,858...129,673,000
Ensembl chr 6:133,698,640...133,783,644

G

ectonucleotide pyrophosphatase/phosphodiesterase 3

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

NCBI chr 6:129,428,107...129,530,898
Ensembl chr 6:133,544,644...133,641,043

G

zinc finger protein 292

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

NCBI chr 6:85,029,362...85,140,760
Ensembl chr 6:88,307,005...88,412,756

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 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032

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 chr11:128,916,024...129,006,497
Ensembl chr11:132,783,580...132,864,657

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 chr 6:83,333,428...83,379,585
Ensembl chr 6:86,615,409...86,661,601

G

TNF receptor superfamily member 11b

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

NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422

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 chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000

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 chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231

G

klotho

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

NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458

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 chr12:8,909,111...8,961,857
Ensembl chr12:9,122,447...9,192,371

G

acrosin binding protein

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

PMID:25378588 PMID:29389098

NCBI chr12:6,768,971...6,778,613
Ensembl chr12:6,685,963...6,695,344

G

acyl-CoA synthetase medium chain family member 4

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

PMID:25378588 PMID:29389098

NCBI chr12:7,448,372...7,474,634
Ensembl chr12:7,613,474...7,637,536

G

adiponectin receptor 2

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

PMID:25378588 PMID:29389098

NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251

G

activation induced cytidine deaminase

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

PMID:25378588 PMID:29389098

NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917

G

A-kinase anchoring protein 3

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

PMID:25378588 PMID:29389098

NCBI chr12:4,733,095...4,766,596
Ensembl chr12:4,655,004...4,677,651

G

anoctamin 2

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

PMID:25378588 PMID:29389098

NCBI chr12:5,690,023...6,071,283
Ensembl chr12:5,609,541...5,987,900

G

apolipoprotein B mRNA editing enzyme catalytic subunit 1

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

PMID:25378588 PMID:29389098

NCBI chr12:7,777,734...7,793,960
Ensembl chr12:7,939,262...7,944,203

G

atrophin 1

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

PMID:25378588 PMID:29389098

NCBI chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580

G

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

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

PMID:25378588 PMID:29389098

NCBI chr12:522,973...635,373
Ensembl chr12:561,726...598,827

G

chromosome 10 C12orf57 homolog

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

PMID:25378588 PMID:29389098

NCBI chr12:7,073,251...7,075,408
Ensembl chr12:6,978,576...6,990,580

G

complement C1r

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

PMID:25378588 PMID:29389098

NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895

G

complement C1r subcomponent like

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

PMID:25378588 PMID:29389098

NCBI chr12:7,224,675...7,239,524
Ensembl chr12:7,139,094...7,155,196

G

complement C1s

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

PMID:25378588 PMID:29389098

NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614

G

complement C3a receptor 1

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

PMID:25378588 PMID:29389098

NCBI chr12:8,178,064...8,186,206
Ensembl chr12:8,220,933...8,222,381

G

calcium voltage-gated channel subunit alpha1 C

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

PMID:25378588 PMID:29389098

NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826

G

calcium voltage-gated channel auxiliary subunit alpha2delta 4

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

PMID:25378588 PMID:29389098

NCBI chr12:1,906,894...2,030,991
Ensembl chr12:1,857,221...1,980,769

G

coiled-coil domain containing 77

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

PMID:25378588 PMID:29389098

NCBI chr12:452,138...504,771
Ensembl chr12:443,382...474,011

G

cyclin D2

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

PMID:25378588 PMID:29389098

NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551

G

CD163 molecule

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

PMID:25378588 PMID:29389098

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

CD163 molecule like 1

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

PMID:25378588 PMID:29389098

NCBI chr12:7,497,261...7,590,057
Ensembl chr12:7,656,113...7,749,646

G

CD27 molecule

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

PMID:25378588 PMID:29389098

NCBI chr12:6,575,104...6,582,127
Ensembl chr12:6,492,119...6,499,427

G

CD4 molecule

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

PMID:25378588 PMID:29389098

NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204

G

CD9 molecule

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

PMID:25378588 PMID:29389098

NCBI chr12:6,327,783...6,366,083
Ensembl chr12:6,245,348...6,283,385

G

cell division cycle associated 3

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

PMID:25378588 PMID:29389098

NCBI chr12:6,980,656...6,983,796
Ensembl chr12:6,890,095...6,895,364

G

chromodomain helicase DNA binding protein 4

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

PMID:25378588 PMID:29389098

NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076

G

C-type lectin domain family 4 member A

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

PMID:25378588 PMID:29389098

NCBI chr12:8,242,240...8,257,860
Ensembl chr12:8,285,174...8,300,029

G

C-type lectin domain family 4 member C

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

PMID:25378588 PMID:29389098

NCBI chr12:7,852,796...7,873,559
Ensembl chr12:8,012,508...8,030,370

G

C-type lectin domain family 4 member D

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

PMID:25378588 PMID:29389098

NCBI chr12:8,599,654...8,608,494
Ensembl chr12:8,814,680...8,823,484

G

C-type lectin domain family 4 member E

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

PMID:25378588 PMID:29389098

NCBI chr12:8,620,618...8,627,610

G

C-type lectin domain containing 6A

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

PMID:25378588 PMID:29389098

NCBI chr12:8,537,766...8,560,736
Ensembl chr12:8,752,778...8,775,738

G

calsyntenin 3

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

PMID:25378588 PMID:29389098

NCBI chr12:7,260,361...7,288,903
Ensembl chr12:7,175,951...7,204,526

G

COP9 signalosome subunit 7A

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

PMID:25378588 PMID:29389098

NCBI chr12:6,856,119...6,863,999
Ensembl chr12:6,770,675...6,778,199

G

calcium release activated channel regulator 2A

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

PMID:25378588 PMID:29389098

NCBI chr12:3,729,241...3,875,715
Ensembl chr12:3,655,031...3,737,592

G

decapping mRNA 1B

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

PMID:25378588 PMID:29389098

NCBI chr12:2,057,985...2,118,615
Ensembl chr12:2,007,406...2,065,141

G

developmental pluripotency associated 3

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

PMID:25378588 PMID:29389098

NCBI chr12:7,834,298...7,841,064

G

dual specificity tyrosine phosphorylation regulated kinase 4

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

PMID:25378588 PMID:29389098

NCBI chr12:4,681,395...4,733,134
Ensembl chr12:4,604,241...4,653,762

G

EMG1 N1-specific pseudouridine methyltransferase

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

PMID:25378588 PMID:29389098

NCBI chr12:7,102,619...7,108,594
Ensembl chr12:7,018,291...7,023,807

G

enolase 2

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

PMID:25378588 PMID:29389098

NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342

G

ELKS/RAB6-interacting/CAST family member 1

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

PMID:25378588 PMID:29389098

NCBI chr12:1,066,034...1,597,562
Ensembl chr12:1,027,967...1,545,431

G

family with sequence similarity 90 member A1

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

PMID:25378588 PMID:29389098

NCBI chr12:8,343,013...8,346,624

G

F-box and leucine rich repeat protein 14

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

PMID:25378588 PMID:29389098

NCBI chr12:1,674,046...1,703,414
Ensembl chr12:1,626,802...1,655,056

G

FERRY endosomal RAB5 effector complex subunit 3

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

PMID:25378588 PMID:29389098

NCBI chr12:4,597,513...4,657,700
Ensembl chr12:4,520,082...4,578,361

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 chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000

G

fibroblast growth factor 6

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

PMID:25378588 PMID:29389098

NCBI chr12:4,543,776...4,555,352
Ensembl chr12:4,466,975...4,478,459

G

FKBP prolyl isomerase 4

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

PMID:25378588 PMID:29389098

NCBI chr12:2,915,017...2,924,423
Ensembl chr12:2,847,496...2,856,107

G

forkhead box J2

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

PMID:25378588 PMID:29389098

NCBI chr12:8,152,037...8,175,291
Ensembl chr12:8,194,519...8,217,778

G

forkhead box M1

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

PMID:25378588 PMID:29389098

NCBI chr12:2,978,400...2,999,077
Ensembl chr12:2,910,028...2,930,503

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 chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231

G

polypeptide N-acetylgalactosaminyltransferase 8

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

PMID:25378588 PMID:29389098

NCBI chr12:4,837,719...4,894,120
Ensembl chr12:4,758,570...4,810,085

G

glyceraldehyde-3-phosphate dehydrogenase

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

PMID:25378588 PMID:29389098

NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729

G

growth differentiation factor 3

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

PMID:25378588 PMID:29389098

NCBI chr12:7,813,288...7,819,418
Ensembl chr12:7,972,907...7,979,815

G

G protein subunit beta 3

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

PMID:25378588 PMID:29389098

NCBI chr12:6,971,854...6,979,214
Ensembl chr12:6,883,280...6,890,692

G

G protein-coupled receptor 162

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

PMID:25378588 PMID:29389098

NCBI chr12:6,952,556...6,958,414
Ensembl chr12:6,864,927...6,870,797

G

intermediate filament family orphan 1

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

PMID:25378588 PMID:29389098

NCBI chr12:6,670,415...6,686,972
Ensembl chr12:6,588,975...6,605,262

G

inhibitor of growth family member 4

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

PMID:25378588 PMID:29389098

NCBI chr12:6,782,402...6,795,035
Ensembl chr12:6,698,843...6,710,955

G

IQ motif and Sec7 domain ArfGEF 3

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

PMID:25378588 PMID:29389098

NCBI chr12:128,587...236,302
Ensembl chr12:105,804...209,812

G

integrin alpha FG-GAP repeat containing 2

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

PMID:25378588 PMID:29389098

NCBI chr12:2,933,227...2,980,509
Ensembl chr12:2,865,297...2,877,555

G

potassium voltage-gated channel subfamily A member 1

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

PMID:25378588 PMID:29389098

NCBI chr12:5,027,333...5,037,136
Ensembl chr12:4,950,938...4,952,425

G

potassium voltage-gated channel subfamily A member 5

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

PMID:25378588 PMID:29389098

NCBI chr12:5,165,057...5,168,307

G

potassium voltage-gated channel subfamily A member 6

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

PMID:25378588 PMID:29389098

NCBI chr12:4,926,069...4,968,475
Ensembl chr12:4,847,510...4,849,099

G

lysine demethylase 5A

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

PMID:25378588 PMID:29389098

NCBI chr12:342,555...452,161
Ensembl chr12:319,273...423,634

G

klotho

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

PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098

NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458

G

killer cell lectin like receptor G1

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

PMID:25378588 PMID:29389098

NCBI chr12:9,034,918...9,288,351
Ensembl chr12:9,305,401...9,326,513

G

lymphocyte activating 3

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

PMID:25378588 PMID:29389098

NCBI chr12:6,903,770...6,909,778
Ensembl chr12:6,817,507...6,823,047

G

lysophosphatidic acid receptor 5

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

PMID:25378588 PMID:29389098

NCBI chr12:6,749,957...6,767,221
Ensembl chr12:6,668,991...6,670,109

G

lysophosphatidylcholine acyltransferase 3

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

PMID:25378588 PMID:29389098

NCBI chr12:7,107,925...7,149,982
Ensembl chr12:7,024,015...7,065,945

G

leucine rich repeat containing 23

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

PMID:25378588 PMID:29389098

NCBI chr12:7,033,989...7,043,704
Ensembl chr12:6,948,809...6,958,880

G

leucine rich repeats and transmembrane domains 2

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

PMID:25378588 PMID:29389098

NCBI chr12:1,932,851...1,949,485
Ensembl chr12:1,882,930...1,899,407

G

lymphotoxin beta receptor

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

PMID:25378588 PMID:29389098

NCBI chr12:6,514,432...6,521,966
Ensembl chr12:6,422,470...6,438,510

G

mannose-6-phosphate receptor, cation dependent

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

PMID:25378588 PMID:29389098

NCBI chr12:9,025,394...9,034,768
Ensembl chr12:9,256,706...9,266,428

G

microfibril associated protein 5

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

PMID:25378588 PMID:29389098

NCBI chr12:8,731,893...8,746,850
Ensembl chr12:8,944,872...8,961,876

G

myeloid leukemia factor 2

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

PMID:25378588 PMID:29389098

NCBI chr12:6,879,347...6,898,785
Ensembl chr12:6,793,045...6,798,715

G

mitochondrial ribosomal protein L51

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

PMID:25378588 PMID:29389098

NCBI chr12:6,622,334...6,623,502
Ensembl chr12:6,539,516...6,540,959

G

Nanog homeobox

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

PMID:25378588 PMID:29389098

NCBI chr12:7,913,037...7,919,715

G

NANOG neighbor homeobox

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

PMID:25378588 PMID:29389098

NCBI chr12:7,888,876...7,897,769

G

non-SMC condensin I complex subunit D2

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

PMID:25378588 PMID:29389098

NCBI chr12:6,623,568...6,662,741
Ensembl chr12:6,540,750...6,580,206

G

NADH:ubiquinone oxidoreductase subunit A9

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

PMID:25378588 PMID:29389098

NCBI chr12:4,766,608...4,811,871
Ensembl chr12:4,687,250...4,725,669

G

NECAP endocytosis associated 1

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

PMID:25378588 PMID:29389098

NCBI chr12:8,201,908...8,217,043
Ensembl chr12:8,243,785...8,282,647

G

ninjurin 2

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

PMID:25378588 PMID:29389098

NCBI chr12:635,373...737,252
Ensembl chr12:601,210...699,663

G

NOP2 nucleolar protein

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

PMID:25378588 PMID:29389098

NCBI chr12:6,687,763...6,699,234
Ensembl chr12:6,606,036...6,617,260

G

nuclear receptor interacting protein 2

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

PMID:25378588 PMID:29389098

NCBI chr12:2,945,844...2,956,155
Ensembl chr12:2,879,690...2,887,722

G

neurotrophin 3

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

PMID:25378588 PMID:29389098

NCBI chr12:5,551,734...5,615,981
Ensembl chr12:5,530,508...5,533,989

G

prolyl 3-hydroxylase 3

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

PMID:25378588 PMID:29389098

NCBI chr12:6,960,193...6,971,691
Ensembl chr12:6,872,035...6,883,187

G

poly(ADP-ribose) polymerase family member 11

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

PMID:25378588 PMID:29389098

NCBI chr12:3,928,474...3,992,713
Ensembl chr12:3,857,256...3,879,242

G

peroxisomal biogenesis factor 5

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

PMID:25378588 PMID:29389098

NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815

G

prohibitin 2

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

PMID:25378588 PMID:29389098

NCBI chr12:7,097,073...7,102,474
Ensembl chr12:7,013,195...7,018,053

G

polyhomeotic homolog 1

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

PMID:25378588 PMID:29389098

NCBI chr12:8,999,018...9,025,900
Ensembl chr12:9,231,394...9,257,806

G

PILR alpha associated neural protein

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

PMID:25378588 PMID:29389098

NCBI chr12:6,824,377...6,832,971
Ensembl chr12:6,742,251...6,748,741

G

pleckstrin homology and RhoGEF domain containing G6

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

PMID:25378588 PMID:29389098

NCBI chr12:6,438,815...6,457,356
Ensembl chr12:6,356,211...6,373,988

G

protein arginine methyltransferase 8

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

PMID:25378588 PMID:29389098

NCBI chr12:3,614,041...3,710,411
Ensembl chr12:3,429,458...3,634,507

G

parathymosin

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

PMID:25378588 PMID:29389098

NCBI chr12:6,897,502...6,902,257
Ensembl chr12:6,814,264...6,815,101

G

protein tyrosine phosphatase non-receptor type 6

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

PMID:25378588 PMID:29389098

NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830

G

RAD51 associated protein 1

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

PMID:25378588 PMID:29389098

NCBI chr12:4,657,972...4,679,232
Ensembl chr12:4,578,621...4,599,879

G

RAD52 homolog, DNA repair protein

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

PMID:25378588 PMID:29389098

NCBI chr12:986,372...1,066,708
Ensembl chr12:946,825...985,668

G

retinol binding protein 5

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

PMID:25378588 PMID:29389098

NCBI chr12:7,253,922...7,261,145
Ensembl chr12:7,169,592...7,175,800

G

RAD9-HUS1-RAD1 interacting nuclear orphan 1

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

PMID:25378588 PMID:29389098

NCBI chr12:2,999,089...3,011,911
Ensembl chr12:2,930,957...2,943,419

G

ribosomal modification protein rimK like family member B

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

PMID:25378588 PMID:29389098

NCBI chr12:8,752,509...8,869,226
Ensembl chr12:8,999,423...9,077,179

G

sodium channel epithelial 1 subunit alpha

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

PMID:25378588 PMID:29389098

NCBI chr12:6,475,723...6,506,443

G

solute carrier family 2 member 14

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

PMID:25378588 PMID:29389098

NCBI chr12:7,936,348...8,014,318
Ensembl chr12:8,094,327...8,113,460

G

solute carrier family 2 member 3

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

PMID:25378588 PMID:29389098

NCBI chr12:8,045,058...8,062,116
Ensembl chr12:8,408,457...8,423,466

G

solute carrier family 6 member 12

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

PMID:25378588 PMID:29389098

NCBI chr12:247,905...274,518
Ensembl chr12:224,566...249,202

G

solute carrier family 6 member 13

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

PMID:25378588 PMID:29389098

NCBI chr12:279,434...334,226
Ensembl chr12:255,141...296,926

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 chr12:7,002,783...7,005,365
Ensembl chr12:6,914,159...6,916,554

G

TAP binding protein like

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

PMID:25378588 PMID:29389098

NCBI chr12:6,582,266...6,592,762
Ensembl chr12:6,499,429...6,509,844

G

TEA domain transcription factor 4

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

PMID:25378588 PMID:29389098

NCBI chr12:3,079,916...3,161,768
Ensembl chr12:3,011,544...3,092,022

G

testis expressed 52

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

PMID:25378588 PMID:29389098

NCBI chr12:2,969,646...2,978,270
Ensembl chr12:2,901,560...2,909,584

G

TP53 induced glycolysis regulatory phosphatase

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

PMID:25378588 PMID:29389098

NCBI chr12:4,429,945...4,462,142
Ensembl chr12:4,353,272...4,385,380

G

TNF receptor superfamily member 1A

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

PMID:25378588 PMID:29389098

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

triosephosphate isomerase 1

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

PMID:25378588 PMID:29389098

NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612

G

tetraspanin 9

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

PMID:25378588 PMID:29389098

NCBI chr12:3,190,897...3,410,042

G

TUB like protein 3

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

PMID:25378588 PMID:29389098

NCBI chr12:3,012,890...3,061,831
Ensembl chr12:2,944,769...2,993,278

G

ubiquitin specific peptidase 5

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

PMID:25378588 PMID:29389098

NCBI chr12:6,983,941...6,998,469
Ensembl chr12:6,895,416...6,909,936

G

vesicle associated membrane protein 1

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

PMID:25378588 PMID:29389098

NCBI chr12:6,592,688...6,601,317
Ensembl chr12:6,509,762...6,518,459

G

von Willebrand factor

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

PMID:25378588 PMID:29389098

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

G

WNK lysine deficient protein kinase 1

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

PMID:25378588 PMID:29389098

NCBI chr12:825,659...985,016
Ensembl chr12:791,153...944,602

G

Wnt family member 5B

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

PMID:25378588 PMID:29389098

NCBI chr12:1,633,987...1,757,431
Ensembl chr12:1,691,097...1,708,351

G

zinc finger protein 384

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

PMID:25378588 PMID:29389098

NCBI chr12:6,798,264...6,821,705
Ensembl chr12:6,714,248...6,738,018

G

zinc finger protein 705A

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

PMID:25378588 PMID:29389098

NCBI chr 8:11,570,038...11,577,621

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 chr12:4,479,116...4,488,797
Ensembl chr12:4,400,802...4,412,000

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 chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458

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 chr 8:42,000,748...42,016,913
Ensembl chr 8:39,444,447...39,460,569

G

cholinergic receptor nicotinic beta 3 subunit

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr 8:41,947,062...41,987,159
Ensembl chr 8:39,391,001...39,429,926

G

dual oxidase 2

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr15:24,040,513...24,061,758
Ensembl chr15:42,395,135...42,414,281

G

farnesyltransferase, CAAX box, subunit alpha

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031

G

hook microtubule tethering protein 3

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

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

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3

PMID:25741868 PMID:28492532

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

G

ring finger protein 170

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163

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 chr 8:41,663,200...41,786,314
Ensembl chr 8:39,109,265...39,162,456

G

small integral membrane protein 19

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

PMID:25741868 PMID:27726124

NCBI chr 8:41,785,396...41,799,520
Ensembl chr 8:39,229,944...39,241,096

G

THAP domain containing 1

ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1

NCBI chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207

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 chr2A:6,856,242...6,874,567

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 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

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 chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

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 1:156,121,029...156,367,565
Ensembl chr 1:159,790,170...160,029,208

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 (putative)

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

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 chr21:12,084,083...12,162,615
Ensembl chr21:25,441,765...25,519,304

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 chr16:2,366,988...2,409,598
Ensembl chr16:3,543,418...3,586,299

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 chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170

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 1:46,883...62,642
Ensembl chr 1:1,249,719...1,259,645

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 1:1,680,590...1,682,020
Ensembl chr 1:2,818,917...2,820,050

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...

Ensembl chr 1:936,000...966,808

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 1:174,353...177,846

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 1:2,121,058...2,148,391
Ensembl chr 1:3,258,664...3,275,809

G

ATPase family AAA domain containing 3C

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 1:209,176...227,683
Ensembl chr 1:1,407,391...1,425,563

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 1:129,234...130,866
Ensembl chr 1:1,329,414...1,331,203

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...

G

chromosome 1 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...

Ensembl chr 1:997,350...1,034,180

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...

Ensembl chr 1:1,200,756...1,205,301

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 1:619,689...623,308
Ensembl chr 1:1,778,101...1,780,581

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 1:2,423,607...2,443,033
Ensembl chr 1:3,544,974...3,564,999

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 1:142,530...155,377
Ensembl chr 1:1,344,346...1,355,361

G

cyclin dependent kinase 11B

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 1:399,997...423,094
Ensembl chr 1:1,558,423...1,579,305

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 1:2,485,711...2,529,745
Ensembl chr 1:3,606,659...3,648,832

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 1:627,950...715,982
Ensembl chr 1:1,785,550...1,856,062

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 1:81,942...86,035
Ensembl chr 1:1,281,979...1,285,620

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

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 1:900,616...922,845

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 1:359,080...361,223

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 1:731,714...743,165
Ensembl chr 1:1,883,955...1,895,102

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 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614

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...

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 1:1,261,260...1,263,128

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 1:66,280...81,854
Ensembl chr 1:1,266,581...1,281,430

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...

Ensembl chr 1:927,418...928,491

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...

Ensembl chr 1:859,730...864,476

G

ATPase family AAA domain-containing protein 3B

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 1:230,464...269,069

G

multiple epidermal growth factor-like domains protein 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 1:2,155,295...2,283,034

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 1:2,451,747...2,468,043

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 1:379,326...395,041
Ensembl chr 1:1,539,634...1,557,517

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 1:1,323,914...1,362,178
Ensembl chr 1:2,462,621...2,504,213

G

matrix metallopeptidase 23B

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 1:396,629...399,103
Ensembl chr 1:1,554,922...1,557,325

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 1:1,040,735...1,109,847
Ensembl chr 1:2,185,815...2,257,031

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 1:157,984...163,411
Ensembl chr 1:1,358,009...1,363,014

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 1:109,071...117,378

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 1:462,860...485,203
Ensembl chr 1:1,619,270...1,642,269

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...

Ensembl chr 1:843,551...857,535

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 1:1,238,821...1,259,139
Ensembl chr 1:2,378,116...2,395,738

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...

Ensembl chr 1:2,270,698...2,278,401

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 1:1,171,623...1,235,592
Ensembl chr 1:2,337,005...2,374,695

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...

Ensembl chr 1:865,290...873,575

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 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251

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 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855

G

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 1:1,319,718...1,324,409

G

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 1:63,263...66,360
Ensembl chr 1:1,263,656...1,266,661

G

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...

Ensembl chr 1:2,257,091...2,271,311

G

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...

G

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...

G

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 1:35,437...46,538
Ensembl chr 1:1,238,512...1,247,649

G

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...

G

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 1:944,428...1,029,695
Ensembl chr 1:2,091,620...2,174,080

G

solute carrier family 35 member E2B

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 1:429,954...458,052
Ensembl chr 1:1,581,352...1,613,835

G

small integral membrane protein 1 (Vel blood group)

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 1:2,444,126...2,447,455
Ensembl chr 1:3,565,845...3,569,137

G

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 1:301,984...335,634
Ensembl chr 1:1,463,184...1,494,797

G

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 1:88,514...92,505
Ensembl chr 1:1,287,841...1,292,094

G

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 1:295,102...301,161
Ensembl chr 1:1,456,731...1,462,005

G

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 1:623,603...626,169
Ensembl chr 1:1,780,877...1,782,570

G

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 1:181,849...185,020

G

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 1:1,288,493...1,296,532
Ensembl chr 1:2,427,631...2,435,615

G

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...

G

TNF receptor superfamily member 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...

Ensembl chr 1:1,168,935...1,171,337

G

tumor protein p73

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 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

G

tumor protein p63 regulated 1 like

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 1:2,296,601...2,301,687

G

tetratricopeptide repeat domain 34

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 1:1,374,206...1,454,684

G

tubulin tyrosine ligase like 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...

Ensembl chr 1:1,131,691...1,155,349

G

ubiquitin conjugating enzyme E2 J2

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 1:8,756...28,672
Ensembl chr 1:1,211,502...1,231,530

G

von Willebrand factor A domain 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