polygenic disease - 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:	polygenic disease	go back to main search page
Accession:	DOID:0080577	browse the term
Definition:	A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. (DO)

show annotations for term's descendants Sort by:
Rat (741) Mouse (748) Human (21794) Chinchilla (678) Bonobo (736) Dog (737) Squirrel (704) Pig (722) Green Monkey (724) Naked Mole-rat (678) All
Genes (741)

acrocallosal syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 41

ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic

PMID:22246503 PMID:28492532

NCBI chr 4:60,238,602...60,279,670
Ensembl chr 4:59,271,218...59,310,668

G

forkhead box G1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:72,401,582...72,404,392
Ensembl chr 6:66,666,587...66,678,607

G

kinesin family member 7

DNA:missense,frameshift mutations:cds:
DNA:mutations:cds,splice junction:
CTD Direct Evidence: marker/mechanism
OMIM:200990
ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1

OMIM
CTD
MouseDO
ClinVar
RGD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19666503 More...

RGD:11068757, RGD:11553832

NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576

G

sonic hedgehog signaling molecule

ClinVar Annotator: match by term: Acrocallosal syndrome

PMID:25741868 PMID:29321670

NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170

G

TOPBP1-interacting checkpoint and replication regulator

ClinVar Annotator: match by term: Acrocallosal syndrome

NCBI chr 1:143,006,989...143,048,836
Ensembl chr 1:133,597,716...133,639,523

AMED syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alcohol dehydrogenase 5 (class III), chi polypeptide

ClinVar Annotator: match by term: AMED syndrome, digenic

PMID:25741868 PMID:33355142

NCBI chr 2:229,648,557...229,660,964
Ensembl chr 2:226,947,466...226,987,591

G

aldehyde dehydrogenase 2 family member

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

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

NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521

Autosomal Dominant Dyskeratosis Congenita

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: Dyskeratosis congenita autosomal dominant

PMID:25741868 PMID:28492532 PMID:29344583 PMID:30523342 PMID:36496180

NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348

G

telomerase RNA component

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita autosomal dominant

PMID:10721988 PMID:15082312 PMID:21844345 PMID:21931702 PMID:24763404 More...

NCBI chr 2:114,744,148...114,744,535

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita autosomal dominant

PMID:15814878 PMID:18042801 PMID:18635888 PMID:18931339 PMID:19561322 More...

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

TERF1 interacting nuclear factor 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita autosomal dominant

PMID:18669893 PMID:20301779 PMID:21199492 PMID:25741868 PMID:28492532

NCBI chr15:33,140,611...33,146,930
Ensembl chr15:29,170,652...29,176,984

autosomal dominant dyskeratosis congenita 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin-related protein T3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:114,727,534...114,729,561
Ensembl chr 2:112,799,011...112,801,075

G

G protein-coupled receptor 160

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:114,414,084...114,491,590
Ensembl chr 2:112,484,935...112,563,148

G

inositol polyphosphate-4-phosphatase type I A

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

PMID:15849264 PMID:21931702 PMID:25741868

NCBI chr 9:47,024,064...47,142,391
Ensembl chr 9:39,528,674...39,646,581

G

leucine rich repeat containing 31

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:114,624,177...114,654,909
Ensembl chr 2:112,700,136...112,724,322

G

leucine rich repeat containing 34

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:114,680,787...114,702,961
Ensembl chr 2:112,754,578...112,774,459

G

leucine-rich repeats and IQ motif containing 4

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:112,729,298...112,756,338
Ensembl chr 2:112,729,417...112,753,234

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

PMID:25741868 PMID:27192671

NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:112,909,321...113,464,590

G

myoneurin

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397

G

polyhomeotic homolog 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:114,337,180...114,412,132
Ensembl chr 2:112,408,531...112,476,540

G

protein kinase C, iota

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:114,250,398...114,310,784
Ensembl chr 2:112,321,929...112,382,352

G

regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29344583 More...

NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348

G

sterile alpha motif domain containing 7

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:114,551,633...114,572,774
Ensembl chr 2:112,624,942...112,639,549

G

SEC62 homolog, preprotein translocation factor

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:114,499,317...114,526,705
Ensembl chr 2:112,570,819...112,601,814

G

SKI-like proto-oncogene

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

NCBI chr 2:114,175,534...114,203,663
Ensembl chr 2:112,247,051...112,275,080

G

telomerase RNA component

ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 | ClinVar Annotator: match by term: TERC-related condition

PMID:10721988 PMID:11574891 PMID:12090986 PMID:12676774 PMID:12972604 More...

NCBI chr 2:114,744,148...114,744,535

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

PMID:12167716 PMID:15814878 PMID:15885610 PMID:16247010 PMID:18042801 More...

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

transglutaminase 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More...

NCBI chr15:33,160,985...33,175,632
Ensembl chr15:29,191,041...29,204,523

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1

PMID:18252230 PMID:18669893 PMID:19090550 PMID:20301779 PMID:21199492 More...

NCBI chr15:33,140,611...33,146,930
Ensembl chr15:29,170,652...29,176,984

autosomal dominant dyskeratosis congenita 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain containing 9

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,158,546...31,185,812
Ensembl chr 1:29,329,985...29,357,016

G

centrosomal protein 72

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,053,884...31,083,863
Ensembl chr 1:29,225,361...29,255,271

G

CLPTM1-like

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530

G

iroquois homeobox 4

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,859,101...31,868,089
Ensembl chr 1:30,030,561...30,039,549

G

lysophosphatidylcholine acyltransferase 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,594,621...31,644,946
Ensembl chr 1:29,766,071...29,816,401

G

mitochondrial ribosomal protein L36

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,794,025...31,797,446
Ensembl chr 1:29,965,317...29,968,807

G

NADH:ubiquinone oxidoreductase subunit S6

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,797,400...31,805,965
Ensembl chr 1:29,968,842...29,977,467

G

NKD inhibitor of WNT signaling pathway 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,268,856...31,299,390
Ensembl chr 1:29,441,328...29,470,821

G

solute carrier family 12 member 7

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,301,243...31,382,825
Ensembl chr 1:29,472,692...29,554,302

G

solute carrier family 6 member 18

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,436,577...31,450,478
Ensembl chr 1:29,608,077...29,621,925

G

solute carrier family 6 member 19

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,414,744...31,434,932
Ensembl chr 1:29,586,195...29,604,962

G

solute carrier family 6 member 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,537,990...31,578,962
Ensembl chr 1:29,709,443...29,750,413

G

solute carrier family 9 member A3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:30,953,215...30,996,209
Ensembl chr 1:29,124,674...29,167,417

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:9536098 PMID:12167716 PMID:12629597 PMID:15814878 PMID:15885610 More...

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

tubulin polymerization promoting protein

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,085,680...31,109,703
Ensembl chr 1:29,261,255...29,281,134

G

thyroid hormone receptor interactor 13

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,185,700...31,230,638
Ensembl chr 1:29,357,130...29,402,074

G

zinc finger, DHHC-type containing 11

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2

PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532

NCBI chr 1:31,124,900...31,156,075
Ensembl chr 1:29,296,334...29,326,898

autosomal dominant dyskeratosis congenita 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transglutaminase 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3

PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More...

NCBI chr15:33,160,985...33,175,632
Ensembl chr15:29,191,041...29,204,523

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3

PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 More...

NCBI chr15:33,140,611...33,146,930
Ensembl chr15:29,170,652...29,176,984

autosomal dominant dyskeratosis congenita 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 4

PMID:23329068 PMID:23453664 PMID:23959892 PMID:25326637 PMID:25607374 More...

NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348

autosomal dominant dyskeratosis congenita 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alanyl-tRNA synthetase 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,906,694...55,930,499
Ensembl chr19:38,999,163...39,021,147

G

ACD, shelterin complex subunit and telomerase recruitment factor

ClinVar Annotator: match by term: ACD-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25205116 PMID:25233904 More...

NCBI chr19:50,496,634...50,499,397
Ensembl chr19:33,586,745...33,589,461

G

agouti related neuropeptide

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,357,899...50,396,758
Ensembl chr19:33,447,992...33,449,584

G

adaptor related protein complex 1 subunit gamma 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,654,101...54,740,586
Ensembl chr19:37,744,633...37,829,167

G

ATPase H+ transporting V0 subunit D1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,313,268...50,357,248
Ensembl chr19:33,403,355...33,447,450

G

ataxin 1 like

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,609,852...54,621,024
Ensembl chr19:37,700,106...37,711,538

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,039,649...50,042,206
Ensembl chr19:33,128,142...33,132,344

G

brain expressed, associated with NEDD4, 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:745,993...792,853
Ensembl chr19:739,551...787,537

G

similar to human chromosome 16 open reading frame 86

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,506,505...50,508,415
Ensembl chr19:33,595,995...33,598,521

G

calbindin 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,023,849...55,050,858
Ensembl chr19:38,114,424...38,141,438

G

carbonic anhydrase 7

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:435,520...444,927
Ensembl chr19:429,075...438,467

G

capping protein regulator and myosin 1 linker 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,481,911...50,496,672
Ensembl chr19:33,574,257...33,586,965

G

core-binding factor subunit beta

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:49,955,133...50,002,661
Ensembl chr19:33,049,172...33,092,751

G

cadherin 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775

G

cadherin 16

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:367,202...377,710
Ensembl chr19:360,824...371,007

G

cadherin 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,303,414...51,353,900
Ensembl chr19:34,393,727...34,444,084

G

cadherin 5

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:821,875...860,931
Ensembl chr19:815,411...854,368

G

centromere protein T

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,644,548...50,651,048
Ensembl chr19:33,734,685...33,741,142

G

carboxylesterase 2H

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:49,884,164...49,898,764
Ensembl chr19:32,974,242...32,988,830

G

carboxylesterase 3a

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:49,902,312...49,910,484

G

carboxylesterase 4A

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:49,921,643...49,942,838
Ensembl chr19:33,011,731...33,029,545

G

carbohydrate sulfotransferase 4

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,900,914...54,911,735
Ensembl chr19:37,991,417...38,003,608

G

chromosome transmission fidelity factor 8

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,691,776...51,702,076
Ensembl chr19:34,781,856...34,792,578

G

cytosolic iron-sulfur assembly component 2B

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:350,644...352,518
Ensembl chr19:344,203...346,068

G

chemokine-like factor

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:704,528...712,998
Ensembl chr19:698,033...706,570

G

C-type lectin domain family 18, member A

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,947,625...55,964,505
Ensembl chr19:39,038,273...39,056,017

G

CKLF-like MARVEL transmembrane domain containing 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:658,075...667,618
Ensembl chr19:651,644...661,184

G

CKLF-like MARVEL transmembrane domain containing 2B

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:647,273...667,683
Ensembl chr19:640,824...651,939

G

CKLF-like MARVEL transmembrane domain containing 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:629,000...637,152
Ensembl chr19:604,458...629,790

G

CKLF-like MARVEL transmembrane domain containing 4

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:582,642...622,546
Ensembl chr19:576,203...616,109

G

cap methyltransferase 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,100,135...55,106,966
Ensembl chr19:38,190,642...38,197,804

G

component of oligomeric golgi complex 4

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,729,854...55,763,902
Ensembl chr19:38,820,501...38,854,796

G

component of oligomeric golgi complex 8

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,861,376...51,872,126
Ensembl chr19:34,951,627...34,962,397

G

CCCTC-binding factor

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,431,478...50,481,013
Ensembl chr19:33,529,319...33,571,123

G

chymotrypsin-like

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,737,078...50,740,659
Ensembl chr19:33,827,229...33,833,626

G

cytochrome b5 type B

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,972,611...52,006,477
Ensembl chr19:35,062,813...35,098,249

G

DEAD-box helicase 19A

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,851,854...55,872,209
Ensembl chr19:38,942,496...38,962,854

G

DEAD-box helicase 19B

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,877,567...55,910,134
Ensembl chr19:38,968,215...38,997,259

G

DEAD-box helicase 28

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,819,643...50,821,573
Ensembl chr19:33,909,801...33,911,742

G

dihydroorotate dehydrogenase

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,460,636...54,483,049
Ensembl chr19:37,558,177...37,591,654

G

DEAH-box helicase 38

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,422,418...54,439,434
Ensembl chr19:37,512,891...37,530,140

G

dipeptidase 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,795,322...50,806,320
Ensembl chr19:33,885,478...33,891,954

G

dipeptidase 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,778,079...50,786,451
Ensembl chr19:33,868,242...33,873,896

G

dihydrouridine synthase 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,816,306...50,864,559
Ensembl chr19:33,911,750...33,954,709

G

dynein, cytoplasmic 1 light intermediate chain 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:538,207...561,110
Ensembl chr19:531,812...554,670

G

E2F transcription factor 4

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,084,335...50,091,731
Ensembl chr19:33,174,410...33,181,806

G

enhancer of mRNA decapping 4

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,683,924...50,695,916
Ensembl chr19:33,774,055...33,787,758

G

engulfment and cell motility 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,091,883...50,096,324
Ensembl chr19:33,182,036...33,186,410

G

enkurin domain containing 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,501,963...50,506,447
Ensembl chr19:33,592,078...33,596,545

G

epithelial splicing regulatory protein 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,944,401...50,951,919
Ensembl chr19:34,034,559...34,041,726

G

exocyst complex component 3-like 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,076,761...50,084,278
Ensembl chr19:33,166,837...33,172,486

G

exosome component 6

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,931,523...55,932,937
Ensembl chr19:39,022,183...39,023,515

G

F-box and leucine-rich repeat protein 8

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,048,221...50,057,191
Ensembl chr19:33,142,715...33,147,262

G

fucose kinase

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,743,746...55,783,873
Ensembl chr19:38,854,762...38,874,418

G

formin homology 2 domain containing 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,116,415...50,135,868
Ensembl chr19:33,206,492...33,225,356

G

Gfo/Idh/MocA-like oxidoreductase domain containing 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,508,626...50,556,945
Ensembl chr19:33,604,187...33,647,004

G

hyaluronan synthase 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,668,276...51,691,042
Ensembl chr19:34,771,982...34,782,592

G

haptoglobin

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523

G

hydroxysteroid 11-beta dehydrogenase 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,307,569...50,312,812
Ensembl chr19:33,397,656...33,402,899

G

heat shock transcription factor 4

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,057,331...50,068,134
Ensembl chr19:33,147,755...33,153,479

G

Hydin, axonemal central pair apparatus protein

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,146,382...55,492,660
Ensembl chr19:38,236,464...38,583,264

G

interleukin 34

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,624,368...55,690,576
Ensembl chr19:38,714,991...38,764,000

G

IST1 factor associated with ESCRT-III

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,558,353...54,580,551
Ensembl chr19:37,648,095...37,670,956

G

potassium channel tetramerization domain containing 19

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,169,814...50,202,121
Ensembl chr19:33,259,970...33,292,006

G

lecithin cholesterol acyltransferase

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,744,598...50,748,064
Ensembl chr19:33,834,403...33,838,231

G

leucine rich repeat containing 29

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,098,274...50,113,488
Ensembl chr19:33,188,352...33,203,545

G

leucine rich repeat containing 36

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,201,944...50,252,338
Ensembl chr19:33,292,074...33,360,141

G

MARVEL domain containing 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,818,180...54,832,871
Ensembl chr19:37,905,638...37,923,420

G

microtubule associated tyrosine carboxypeptidase 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,067,978...50,076,715
Ensembl chr19:33,158,056...33,166,445

G

microRNA 140

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:52,375,293...52,375,391
Ensembl chr19:35,465,577...35,465,675

G

microRNA 328

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,094,691...50,094,774
Ensembl chr19:33,184,766...33,184,849

G

MTSS I-BAR domain containing 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,602,180...55,623,955
Ensembl chr19:38,693,194...38,713,507

G

NEDD8 activating enzyme E1 subunit 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:452,462...478,591
Ensembl chr19:446,000...472,371

G

nuclear factor of activated T-cells 5

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:52,108,982...52,196,418
Ensembl chr19:35,199,016...35,286,675

G

nuclear factor of activated T-cells 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,870,464...50,944,992
Ensembl chr19:33,960,852...34,035,150

G

nucleolar pre-rRNA processing protein NIP7

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,872,306...51,874,448
Ensembl chr19:34,962,557...34,964,711

G

NIN1 (RPN12) binding protein 1 homolog

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:52,232,543...52,245,824
Ensembl chr19:35,322,669...35,346,815

G

nucleolar protein 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,066,493...50,068,175
Ensembl chr19:33,154,062...33,158,250

G

NAD(P)H quinone dehydrogenase 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557

G

neuritin 1-like

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,696,281...50,697,741

G

nuclear transport factor 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,662,168...50,683,457
Ensembl chr19:33,752,291...33,773,591

G

par-6 family cell polarity regulator alpha

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,499,420...50,502,301
Ensembl chr19:33,589,542...33,591,900

G

peptide deformylase (mitochondrial)

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,859,159...51,861,281
Ensembl chr19:34,948,256...34,951,515

G

pyruvate dehydrogenase phosphatase catalytic subunit 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:392,858...400,529
Ensembl chr19:386,406...394,074

G

pyruvate dehydrogenase phosphatase regulatory subunit

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,974,611...56,019,045
Ensembl chr19:39,065,157...39,109,688

G

phagophore assembly factor 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,011,350...50,050,880
Ensembl chr19:33,101,490...33,138,914

G

PH domain and leucine rich repeat protein phosphatase 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,744,581...54,811,258
Ensembl chr19:37,835,125...37,905,513

G

polycystin 1 like 3, transient receptor potential channel interacting

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,494,529...54,559,596
Ensembl chr19:37,585,725...37,650,155

G

phospholipase A2, group XV

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,960,568...50,977,948
Ensembl chr19:34,050,694...34,068,063

G

pleckstrin homology and RhoGEF domain containing G4

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,161,722...50,176,491
Ensembl chr19:33,249,706...33,266,357

G

protein arginine methyltransferase 7

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,020,596...51,071,401
Ensembl chr19:34,110,747...34,162,577

G

protein serine kinase H1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,704,780...50,736,890
Ensembl chr19:33,794,935...33,827,032

G

proteasome 20S subunit beta 10

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,740,808...50,743,292
Ensembl chr19:33,827,229...33,833,626

G

RAN binding protein 10

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,565,924...50,626,720
Ensembl chr19:33,656,046...33,717,033

G

RHO family interacting cell polarization regulator 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,387,447...50,416,323
Ensembl chr19:33,477,793...33,506,420

G

RRAD, Ras related glycolysis inhibitor and calcium channel regulator

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:360,581...363,874
Ensembl chr19:354,198...357,417

G

splicing factor 3b, subunit 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,692,124...55,729,640
Ensembl chr19:38,783,040...38,820,245

G

solute carrier family 12 member 4

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,748,268...50,770,217
Ensembl chr19:33,838,419...33,860,331

G

solute carrier family 7 member 6

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,982,459...51,010,140
Ensembl chr19:34,074,286...34,100,268

G

solute carrier family 7, member 6 opposite strand

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,011,850...51,020,514
Ensembl chr19:34,101,982...34,110,651

G

solute carrier family 9 member A5

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,135,973...50,156,833
Ensembl chr19:33,226,816...33,246,903

G

sphingomyelin phosphodiesterase 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,072,209...51,155,639
Ensembl chr19:34,162,341...34,245,749

G

syntrophin, beta 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,739,492...51,832,083
Ensembl chr19:34,831,584...34,914,113

G

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

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,798,112...55,849,226
Ensembl chr19:38,923,999...38,939,869

G

transport and golgi organization 6 homolog

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,479,384...51,667,142
Ensembl chr19:34,569,635...34,754,639

G

tyrosine aminotransferase

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,856,604...54,867,168
Ensembl chr19:37,947,112...37,958,031

G

telomere repeat binding bouquet formation protein 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:480,160...534,534
Ensembl chr19:473,218...528,084

G

telomeric repeat binding factor 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,887,221...51,915,756
Ensembl chr19:34,977,471...35,005,819

G

THAP domain containing 11

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,656,839...50,658,656
Ensembl chr19:33,746,854...33,749,540

G

thymidine kinase 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:713,043...737,345
Ensembl chr19:708,891...730,924

G

transmembrane p24 trafficking protein 6

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,876,561...51,882,648
Ensembl chr19:34,966,813...34,972,900

G

transmembrane protein 208

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,113,494...50,116,210
Ensembl chr19:33,203,587...33,212,183

G

tubulin polymerization-promoting protein family member 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,255,809...50,259,655
Ensembl chr19:33,345,898...33,349,577

G

TNFRSF1A-associated via death domain

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,046,057...50,048,158
Ensembl chr19:33,136,138...33,142,638

G

translin-associated factor X interacting protein 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,626,846...50,647,848
Ensembl chr19:33,716,785...33,734,824

G

thioredoxin-like 4B

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,439,686...54,449,777
Ensembl chr19:37,530,152...37,538,521

G

UTP4 small subunit processome component

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,696,437...51,730,323
Ensembl chr19:34,792,457...34,820,550

G

VAC14 component of PIKFYVE complex

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:55,499,962...55,601,290
Ensembl chr19:38,590,569...38,691,909

G

vacuolar protein sorting 4 homolog A

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,838,411...51,858,639
Ensembl chr19:34,934,961...34,948,887

G

WW domain containing E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:52,256,563...52,380,967
Ensembl chr19:35,346,814...35,472,699

G

zinc finger, DHHC-type containing 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:50,260,445...50,285,634
Ensembl chr19:33,350,533...33,375,616

G

zinc finger protein 612

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,963,400...54,976,888
Ensembl chr19:38,053,967...38,067,455

G

zinc finger protein 821

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:54,589,449...54,608,341
Ensembl chr19:37,680,628...37,698,831

G

zinc finger protein 90

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6

NCBI chr19:51,231,748...51,243,039
Ensembl chr19:34,321,940...34,333,194

Autosomal Recessive Dyskeratosis Congenita

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: Dyskeratosis Congenita, Recessive

NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298

G

DNA cross-link repair 1B

ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita

PMID:25741868 PMID:28492532

NCBI chr 2:193,998,350...194,006,873
Ensembl chr 2:191,309,913...191,318,423

G

NHP2 ribonucleoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr10:36,378,020...36,381,362
Ensembl chr10:35,877,054...35,882,545

G

NOP10 ribonucleoprotein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive

NCBI chr 3:119,521,255...119,522,340
Ensembl chr 3:99,066,857...99,067,942

G

phosphoribosylformylglycinamidine synthase

ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive

NCBI chr10:54,189,157...54,210,685
Ensembl chr10:53,691,626...53,708,420

G

solute carrier family 12, member 6

ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive

NCBI chr 3:119,525,521...119,624,655
Ensembl chr 3:99,071,391...99,170,258

G

tumor protein p53

ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive

PMID:25741868 PMID:28492532

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

WD repeat containing, antisense to TP53

DNA:mutations:exons:
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:21205863

NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929

autosomal recessive dyskeratosis congenita 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NHP2 ribonucleoprotein

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1

PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532

NCBI chr10:36,378,020...36,381,362
Ensembl chr10:35,877,054...35,882,545

G

NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1

PMID:17507419 PMID:20301779 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 3:119,521,255...119,522,340
Ensembl chr 3:99,066,857...99,067,942

G

required for meiotic nuclear division 5 homolog B

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1

PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532

NCBI chr10:36,382,212...36,394,801
Ensembl chr10:35,881,268...35,892,265

G

solute carrier family 12, member 6

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1

NCBI chr 3:119,525,521...119,624,655
Ensembl chr 3:99,071,391...99,170,258

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1

PMID:17785587 PMID:20301779 PMID:25741868 PMID:26887940 PMID:28192371 More...

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

autosomal recessive dyskeratosis congenita 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NHP2 ribonucleoprotein

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 | ClinVar Annotator: match by term: NHP2-related condition

PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31681265 More...

NCBI chr10:36,378,020...36,381,362
Ensembl chr10:35,877,054...35,882,545

G

required for meiotic nuclear division 5 homolog B

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 | ClinVar Annotator: match by term: NHP2-related condition

PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532

NCBI chr10:36,382,212...36,394,801
Ensembl chr10:35,881,268...35,892,265

autosomal recessive dyskeratosis congenita 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition

PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

WD repeat containing, antisense to TP53

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition

PMID:17683073 PMID:20301779 PMID:21205863 PMID:24033266 PMID:25741868 More...

NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929

autosomal recessive dyskeratosis congenita 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4

PMID:15814878 PMID:17785587 PMID:18042801 PMID:18635888 PMID:18753630 More...

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

autosomal recessive dyskeratosis congenita 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ARF related protein 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

NCBI chr 3:188,844,013...188,851,473
Ensembl chr 3:168,466,496...168,473,914

G

cholinergic receptor nicotinic alpha 4 subunit

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532

NCBI chr 3:188,506,802...188,535,558
Ensembl chr 3:168,136,266...168,156,957

G

eukaryotic translation elongation factor 1 alpha 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:188,643,455...188,652,633
Ensembl chr 3:168,195,357...168,275,071

G

fibronectin type III domain containing 11

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:188,708,045...188,710,670
Ensembl chr 3:168,330,602...168,334,617

G

glucocorticoid modulatory element binding protein 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:188,740,210...188,778,377
Ensembl chr 3:168,362,650...168,400,788

G

helicase with zinc finger 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:188,716,370...188,730,776
Ensembl chr 3:168,338,813...168,353,159

G

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:188,572,345...188,631,391
Ensembl chr 3:168,195,357...168,275,071

G

pancreatic progenitor cell differentiation and proliferation factor

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:188,676,821...188,678,599
Ensembl chr 3:168,299,791...168,301,036

G

protein tyrosine kinase 6

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:188,684,633...188,693,224
Ensembl chr 3:168,307,073...168,315,664

G

regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19461895 More...

NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348

G

spectrin, alpha, non-erythrocytic 1

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:25326637 PMID:25741868 PMID:28492532

NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:13,241,217...13,306,046

G

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:188,696,070...188,702,474
Ensembl chr 3:168,318,512...168,324,915

G

stathmin 3

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More...

NCBI chr 3:188,794,358...188,802,494
Ensembl chr 3:168,416,810...168,425,056

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

autosomal recessive dyskeratosis congenita 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

poly(A)-specific ribonuclease

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6

PMID:9536098 PMID:9736620 PMID:16199547 PMID:17576681 PMID:22834816 More...

NCBI chr10:1,917,830...2,055,749
Ensembl chr10:1,410,642...1,548,560

Autosomal Recessive Dyskeratosis Congenita 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ACD, shelterin complex subunit and telomerase recruitment factor

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7

PMID:25205116 PMID:25233904 PMID:25741868 PMID:27807141 PMID:28492532 More...

NCBI chr19:50,496,634...50,499,397
Ensembl chr19:33,586,745...33,589,461

Autosomal Recessive Dyskeratosis Congenita 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA cross-link repair 1B

ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 8

PMID:28492532 PMID:35007328

NCBI chr 2:193,998,350...194,006,873
Ensembl chr 2:191,309,913...191,318,423

autosomal recessive nonsyndromic deafness 1A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

crystallin, lambda 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6

PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More...

NCBI chr15:35,542,628...35,661,563
Ensembl chr15:31,427,054...31,545,997

G

EEF1A lysine methyltransferase 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

NCBI chr15:35,809,842...35,826,921
Ensembl chr15:31,694,292...31,711,336

G

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

PMID:19894250 PMID:25741868 PMID:29572252 PMID:30820731 PMID:30871974 More...

NCBI chr 2:41,380,901...41,418,294
Ensembl chr 2:39,647,452...39,684,859

G

gap junction protein, alpha 3

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

NCBI chr15:35,296,946...35,322,405
Ensembl chr15:31,181,369...31,206,810

G

gap junction protein, beta 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
OMIM:220290
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More...

NCBI chr15:35,375,977...35,393,817
Ensembl chr15:31,260,357...31,278,177

G

gap junction protein, beta 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3

CTD
ClinVar
OMIM

PMID:12791041 PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 5:144,933,692...144,939,435
Ensembl chr 5:139,649,195...139,654,980

G

gap junction protein, beta 4

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532

NCBI chr 5:144,948,231...144,964,014
Ensembl chr 5:139,675,780...139,679,667

G

gap junction protein, beta 6

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
OMIM:220290
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More...

NCBI chr15:35,400,147...35,410,649
Ensembl chr15:31,284,419...31,294,582

G

intraflagellar transport 88

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

NCBI chr15:35,685,678...35,786,875
Ensembl chr15:31,573,376...31,672,147

G

interleukin 17D

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

NCBI chr15:35,786,898...35,804,391

G

exportin 4

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

NCBI chr15:35,832,567...35,923,262
Ensembl chr15:31,716,762...31,807,908

autosomal-mitochondrial sensorineural deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded cytochrome c oxidase I

CTD Direct Evidence: marker/mechanism

NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

ClinVar Annotator: match by term: Deafness, sensorineural, autosomal-mitochondrial type

PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More...

NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694

craniosynostosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 2

ClinVar Annotator: match by term: Craniosynostosis 7

NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397

G

SMAD family member 6

susceptibility

ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: CRS7, DIGENIC | ClinVar Annotator: match by term: Craniosynostosis 7

PMID:9536098 PMID:17576681 PMID:22275001 PMID:25741868 PMID:27606499 More...

NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:64,450,114...64,519,763

digenic dyskeratosis congenita

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

enolase superfamily member 1

ClinVar Annotator: match by term: Dyskeratosis congenita, digenic

PMID:25741868 PMID:35931051

G

thymidylate synthetase

ClinVar Annotator: match by term: Dyskeratosis congenita, digenic

PMID:25741868 PMID:35931051

NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536

dyskeratosis congenita

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily D member 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,579,669...156,601,448
Ensembl chr X:151,428,578...151,450,115

G

acyl-CoA dehydrogenase, very long chain

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,231,558...55,236,786
Ensembl chr10:54,732,469...54,738,075

G

ArfGAP with coiled-coil, ankyrin repeat and PH domains 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,104,040...55,119,280
Ensembl chr10:54,605,323...54,619,472

G

arachidonate 12-lipoxygenase, 12S type

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542

G

arachidonate 12-lipoxygenase, 12R type

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,361,898...54,373,776
Ensembl chr10:53,863,060...53,874,938

G

arachidonate 15-lipoxygenase, type B

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,391,331...54,400,648
Ensembl chr10:53,892,466...53,901,812

G

arachidonate epidermal lipoxygenase 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,329,224...54,353,167
Ensembl chr10:53,831,264...53,854,328

G

Rho GTPase activating protein 4

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,787,566...156,802,841
Ensembl chr X:151,632,454...151,651,128

G

Rho guanine nucleotide exchange factor 15

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,149,372...54,162,128
Ensembl chr10:53,650,553...53,663,913

G

asialoglycoprotein receptor 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,274,299...55,278,323
Ensembl chr10:54,776,024...54,779,631

G

asialoglycoprotein receptor 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,320,082...55,333,294
Ensembl chr10:54,821,438...54,834,617

G

ATPase Na+/K+ transporting subunit beta 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,817,473...54,823,708
Ensembl chr10:54,318,701...54,324,933

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:156,367,582...156,464,085
Ensembl chr X:151,216,507...151,286,775

G

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,231,243...157,238,323
Ensembl chr X:152,079,865...152,087,034

G

aurora kinase B

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,243,116...54,249,675
Ensembl chr10:53,745,142...53,750,837

G

arginine vasopressin receptor 2

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,785,009...156,787,477
Ensembl chr X:151,633,522...151,635,989

G

beta-1,4-galactosyltransferase 7

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr17:9,023,667...9,032,742
Ensembl chr17:9,018,935...9,027,573

G

BPTF associated chromatin complex component 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,450,648...55,453,409
Ensembl chr10:54,951,991...54,956,601

G

B-cell receptor-associated protein 31

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,548,911...156,581,002
Ensembl chr X:151,397,576...151,428,506

G

BCL6B, transcription repressor

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,439,566...55,444,631
Ensembl chr10:54,940,909...54,945,974

G

biglycan

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:156,348,633...156,360,797
Ensembl chr X:151,197,273...151,209,461

G

BLOC-1 related complex subunit 6

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,259,349...54,261,203
Ensembl chr10:53,758,093...53,762,632

G

BRCA1/BRCA2-containing complex subunit 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr 9:2,073,927...2,076,469
Ensembl chr 9:1,986,575...1,991,080

G

cyclin Q

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr10:64,144,560...64,145,723
Ensembl chr10:63,646,527...63,647,961

G

Cd68 molecule

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697

G

chromodomain helicase DNA binding protein 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,562,437...54,588,842
Ensembl chr10:54,063,629...54,090,047

G

cholinergic receptor nicotinic beta 1 subunit

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,999,943...55,015,137
Ensembl chr10:54,501,093...54,516,345

G

claudin 7

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,188,670...55,190,871
Ensembl chr10:54,689,987...54,692,171

G

C-type lectin domain containing 10A

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,374,914...55,379,110
Ensembl chr10:54,876,260...54,880,435

G

chloride intracellular channel 2

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr20:154,630...169,655
Ensembl chr20:148,907...164,355

G

C-X9-C motif containing 4

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr18:139,382...147,037
Ensembl chr18:125,227...132,160

G

centrobin, centriole duplication and spindle assembly protein

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,521,338...54,546,569
Ensembl chr10:54,022,852...54,044,849

G

cancer/testis antigen 2

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:148,567,674...148,568,972
Ensembl chr X:143,531,907...143,533,201

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298

G

CTD nuclear envelope phosphatase 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,203,047...55,212,469
Ensembl chr10:54,704,148...54,713,781

G

cytochrome b5 domain containing 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,612,230...54,616,375
Ensembl chr10:54,113,438...54,117,911

G

dyskerin pseudouridine synthase 1

DNA:missense mutations, deletion: :multiple
ClinVar Annotator: match by term: Dyskeratosis congenita
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:146C>T (p.T49M), 361A>G (p.S121G) (human)
DNA:missense mutation:exon: p.P409A (c.1226C>G) (human)
DNA:missense mutations, splice-site mutaion:exon, intron:multiple

ClinVar
MouseDO
CTD
RGD

PMID:768476 PMID:7607282 PMID:9384614 PMID:9536098 PMID:9590285 More...

RGD:734888, RGD:11251734, RGD:11251732, RGD:11251731, RGD:10755414

NCBI chr X:157,751,651...157,757,796

G

discs large MAGUK scaffold protein 4

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,239,397...55,267,780
Ensembl chr10:54,739,470...54,767,153

G

dynein, axonemal, heavy chain 2

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,641,450...54,766,502
Ensembl chr10:54,142,737...54,267,298

G

deoxyribonuclease 1-like 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,208,230...157,216,812
Ensembl chr X:152,056,942...152,065,518

G

dual specificity phosphatase 9

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:156,503,237...156,507,162
Ensembl chr X:151,351,897...151,355,821

G

dishevelled segment polarity protein 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,222,245...55,231,506
Ensembl chr10:54,723,411...54,732,820

G

ephrin B3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,773,282...54,780,727
Ensembl chr10:54,274,506...54,280,471

G

eukaryotic translation initiation factor 4A1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,883,093...54,888,602
Ensembl chr10:54,384,347...54,389,858

G

eukaryotic translation initiation factor 5A

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,138,821...55,143,272
Ensembl chr10:54,640,024...54,644,656

G

elongator acetyltransferase complex subunit 5

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,191,223...55,202,949
Ensembl chr10:54,692,530...54,704,923

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emerin

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,190,438...157,193,479
Ensembl chr X:152,038,998...152,045,807

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enolase superfamily member 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:25741868 PMID:35931051

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coagulation factor VIII

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857

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coagulation factor VIII-associated 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:155,977,859...155,979,373
Ensembl chr X:150,916,679...150,960,168

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FAM3 metabolism regulating signaling molecule A

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,317,993...157,326,640
Ensembl chr X:152,165,535...152,175,362

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family with sequence similarity 50, member A

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,246,533...157,253,650
Ensembl chr X:152,095,245...152,102,362

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F-box protein 39

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:57,428,259...57,433,468
Ensembl chr10:56,932,297...56,934,906

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fibroblast growth factor 11

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,015,232...55,020,773
Ensembl chr10:54,517,077...54,522,062

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filamin A

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052

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FUN14 domain containing 2

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr18:142,829...155,123
Ensembl chr18:132,248...138,345

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FMR1 autosomal homolog 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,849,345...54,869,713
Ensembl chr10:54,350,131...54,370,964

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glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,352,364...157,372,144
Ensembl chr X:152,201,098...152,220,801

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GABA type A receptor-associated protein

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,213,465...55,216,787
Ensembl chr10:54,714,198...54,717,765

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GAR1 ribonucleoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:221,049,471...221,056,749
Ensembl chr 2:218,375,353...218,382,524

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GDP dissociation inhibitor 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,238,900...157,245,562
Ensembl chr X:152,087,444...152,094,272

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guanosine monophosphate reductase 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr15:33,135,455...33,144,923
Ensembl chr15:29,165,783...29,174,935

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G protein pathway suppressor 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,136,043...55,139,106
Ensembl chr10:54,637,455...54,640,650

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guanylate cyclase 2E

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,453,753...54,478,639
Ensembl chr10:53,959,010...53,974,067

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H2A.B variant histone 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:86,566,994...86,567,568
Ensembl chr X:82,362,633...82,362,983

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HAUS augmin-like complex, subunit 7

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:156,306,320...156,331,940
Ensembl chr X:151,154,979...151,180,577

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host cell factor C1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,839,100...156,864,132
Ensembl chr X:151,687,779...151,712,638

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hes family bHLH transcription factor 7

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,322,971...54,327,776
Ensembl chr10:53,825,574...53,828,097

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isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,666,573...156,675,482
Ensembl chr X:151,515,247...151,524,171

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inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,358,279...157,397,563
Ensembl chr X:152,216,596...152,239,499

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interleukin-1 receptor-associated kinase 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,919,927...156,929,825
Ensembl chr X:151,768,777...151,778,521

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potassium voltage-gated channel subfamily A regulatory beta subunit 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,546,638...54,555,209
Ensembl chr10:54,047,825...54,054,174

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potassium channel tetramerization domain containing 11

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,101,292...55,103,455
Ensembl chr10:54,599,754...54,604,760

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lysine demethylase 6B

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,619,520...54,641,014
Ensembl chr10:54,121,848...54,130,794

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L1 cell adhesion molecule

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,748,597...156,775,116
Ensembl chr X:151,597,277...151,623,857

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L antigen family, member 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,289,497...157,290,920
Ensembl chr X:152,138,218...152,139,632

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methyl CpG binding protein 2

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,932,481...156,995,981
Ensembl chr X:151,789,930...151,844,689

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microRNA 195

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,450,495...55,450,581
Ensembl chr10:54,951,838...54,951,924

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mannose-P-dolichol utilization defect 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,873,467...54,880,536
Ensembl chr10:54,374,725...54,380,447

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MAGUK p55 scaffold protein 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

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mature T-cell proliferation 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr18:142,416...144,482

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Nedd4 binding protein 3

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:36,400,053...36,407,609
Ensembl chr10:35,899,096...35,907,001

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N(alpha)-acetyltransferase 10, NatA catalytic subunit

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,807,378...156,812,632
Ensembl chr X:151,656,056...151,661,252

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N(alpha)-acetyltransferase 38, NatC auxiliary subunit

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,588,304...54,617,715
Ensembl chr10:54,117,163...54,119,494

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neuralized E3 ubiquitin protein ligase 4

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,123,471...55,135,971
Ensembl chr10:54,625,642...54,637,258

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NHP2 ribonucleoprotein

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18523010 PMID:25741868 More...

NCBI chr10:36,378,020...36,381,362
Ensembl chr10:35,877,054...35,882,545

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neuroligin 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,042,175...55,056,578
Ensembl chr10:54,544,588...54,558,434

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NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 3:119,521,255...119,522,340
Ensembl chr 3:99,066,857...99,067,942

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nucleophosmin 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:15659725 PMID:25741868 PMID:31570891

NCBI chr10:18,245,739...18,255,913
Ensembl chr10:17,739,941...17,751,645
Ensembl chr X:17,739,941...17,751,645

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NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:155,817,301...155,848,224
Ensembl chr X:150,775,080...150,807,142

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outer dense fiber of sperm tails 4

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,127,398...54,133,227
Ensembl chr10:53,628,759...53,634,359

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opsin 1, medium wave sensitive

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,056,355...157,076,716
Ensembl chr X:151,905,096...151,925,388

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poly(A)-specific ribonuclease

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:1,917,830...2,055,749
Ensembl chr10:1,410,642...1,548,560

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PDZ domain containing 4

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,681,717...156,712,031
Ensembl chr X:151,530,390...151,560,826

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period circadian regulator 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,299,002...54,313,804
Ensembl chr10:53,805,535...53,814,431

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phosphoribosylformylglycinamidine synthase

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20522432 PMID:21056402 More...

NCBI chr10:54,189,157...54,210,685
Ensembl chr10:53,691,626...53,708,420

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PHD finger protein 23

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,217,351...55,221,471
Ensembl chr10:54,717,724...54,722,782

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phospholipid scramblase 3

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,064,349...55,070,120
Ensembl chr10:54,566,873...54,578,709

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plexin A3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,266,986...157,282,896
Ensembl chr X:152,115,819...152,131,603

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plexin B3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,645,505...156,660,011
Ensembl chr X:151,494,207...151,508,674

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pregnancy up-regulated nonubiquitous CaM kinase

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:156,520,751...156,524,828
Ensembl chr X:151,369,410...151,373,446

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PNMA family member 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:155,946,428...155,952,761
Ensembl chr X:150,906,278...150,910,839

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PNMA family member 5

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:155,923,131...155,925,055
Ensembl chr X:150,880,865...150,882,789

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PNMA family member 6E

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:156,254,009...156,259,971
Ensembl chr X:151,103,755...151,106,037

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RNA polymerase II subunit A

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,951,162...54,977,179
Ensembl chr10:54,452,441...54,478,455

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protection of telomeres 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:25741868 PMID:28492532 PMID:30523342

NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042

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PROP paired-like homeobox 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:35,772,968...35,775,443
Ensembl chr10:35,271,973...35,274,434

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RAN guanine nucleotide release factor

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,176,325...54,177,696
Ensembl chr10:53,677,467...53,678,840

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renin binding protein

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,812,785...156,821,860
Ensembl chr X:151,661,458...151,670,516

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required for meiotic nuclear division 5 homolog B

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18523010 PMID:25741868 PMID:28492532

NCBI chr10:36,382,212...36,394,801
Ensembl chr10:35,881,268...35,892,265

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ribonuclease K

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,453,561...55,455,279
Ensembl chr10:54,951,991...54,956,601

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ring finger protein 227

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,559,862...54,561,823
Ensembl chr10:54,059,947...54,063,010

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ribosomal protein L10

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,205,850...157,208,057
Ensembl chr X:152,054,452...152,056,761

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ribosomal protein L26

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,109,692...54,112,822
Ensembl chr10:53,610,421...53,613,966

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regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:23329068 More...

NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348

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spermidine/spermine N1-acetyltransferase family member 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,839,531...54,841,651
Ensembl chr10:54,340,372...54,343,224

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small Cajal body-specific RNA 21

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,569,767...54,569,906
Ensembl chr10:54,070,959...54,071,098

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SUMO specific peptidase 3

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,889,445...54,898,359
Ensembl chr10:54,390,694...54,399,593

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sex hormone binding globulin

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,831,716...54,849,162
Ensembl chr10:54,332,941...54,351,057

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solute carrier family 10, member 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,306,043...157,309,849
Ensembl chr X:152,151,076...152,162,958

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solute carrier family 13 member 5

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:57,364,806...57,389,500
Ensembl chr10:56,866,249...56,890,945

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solute carrier family 16, member 11

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,427,773...55,431,678
Ensembl chr10:54,927,725...54,942,915

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solute carrier family 16, member 13

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,424,633...55,436,555
Ensembl chr10:54,926,760...54,937,788

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solute carrier family 25, member 35

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,172,138...54,176,359
Ensembl chr10:53,673,340...53,698,160

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solute carrier family 2 member 4

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,164,721...55,170,289
Ensembl chr10:54,666,015...54,671,565

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solute carrier family 35, member G3

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,978,450...54,980,505
Ensembl chr10:54,479,770...54,481,748

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solute carrier family 6 member 8

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,536,017...156,545,321
Ensembl chr X:151,384,675...151,393,979

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small nucleolar RNA, C/D box 118

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,273,655...54,273,790
Ensembl chr10:53,774,811...53,774,946

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SRY-box transcription factor 15

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,871,793...54,873,497
Ensembl chr10:54,372,403...54,376,591

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spermatid maturation 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,040,178...55,041,479
Ensembl chr10:54,541,471...54,546,131

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SPEM family member 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,035,892...55,037,790
Ensembl chr10:54,537,174...54,539,058

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SRSF protein kinase 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,661,888...156,666,537
Ensembl chr X:151,510,539...151,515,198

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signal sequence receptor subunit 4

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:156,675,658...156,679,545
Ensembl chr X:151,524,009...151,528,202

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tafazzin, phospholipid-lysophospholipid transacylase

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,216,826...157,230,524
Ensembl chr X:152,065,609...152,074,001

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tektin 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:57,450,712...57,479,121
Ensembl chr10:56,952,167...56,980,572

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telomerase RNA component

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:10721988 PMID:17785587 PMID:21844345 PMID:28492532

NCBI chr 2:114,744,148...114,744,535

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telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9536098 PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 More...

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

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testis expressed 28

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,076,824...157,110,988
Ensembl chr X:151,925,526...151,954,567

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transglutaminase 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More...

NCBI chr15:33,160,985...33,175,632
Ensembl chr15:29,191,041...29,204,523

G

TERF1 interacting nuclear factor 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita

CTD
ClinVar
MouseDO

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18252230 PMID:18669893 More...

NCBI chr15:33,140,611...33,146,930
Ensembl chr15:29,170,652...29,176,984

G

transketolase-like 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,105,455...157,138,510
Ensembl chr X:151,954,175...151,987,208

G

transmembrane protein 102

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,022,625...55,025,676
Ensembl chr10:54,523,585...54,525,990

G

transmembrane protein 107

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,268,218...54,273,520
Ensembl chr10:53,771,784...53,774,676

G

transmembrane protein 256

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,056,959...55,058,869
Ensembl chr10:54,555,360...54,560,120

G

transmembrane protein 88

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,617,554...54,619,309
Ensembl chr10:54,118,752...54,120,447

G

transmembrane protein 95

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,098,518...55,100,463
Ensembl chr10:54,599,800...54,601,790

G

TNF superfamily member 12

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,902,616...54,912,628
Ensembl chr10:54,403,870...54,413,213

G

TNF superfamily member 13

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,898,805...54,901,815
Ensembl chr10:54,400,065...54,403,042

G

tyrosine kinase, non-receptor, 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,070,362...55,084,383
Ensembl chr10:54,571,117...54,579,940

G

tumor protein p53

ClinVar Annotator: match by term: Dyskeratosis congenita

MouseDO
ClinVar

PMID:17683073 PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 More...

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

trafficking protein particle complex subunit 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,544,406...54,545,992
Ensembl chr10:54,045,537...54,047,331

G

three prime repair exonuclease 2

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:156,303,203...156,304,811
Ensembl chr X:151,151,864...151,153,479

G

thymidylate synthetase

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:25741868 PMID:35931051

NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536

G

ubiquitin-like 4A

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...

NCBI chr X:157,302,528...157,305,380
Ensembl chr X:152,151,460...152,154,069

G

vesicle-associated membrane protein 2

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...

NCBI chr10:54,292,423...54,296,657
Ensembl chr10:53,793,923...53,797,809

G

VHL binding protein 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

G

WD repeat containing, antisense to TP53

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:17683073 PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 More...

NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929

G

XIAP associated factor 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:57,415,935...57,428,348
Ensembl chr10:56,917,121...56,929,770

G

Y box binding protein 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:55,158,420...55,164,077
Ensembl chr10:54,659,719...54,665,371

G

zinc finger and BTB domain containing 4

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,979,421...55,000,215
Ensembl chr10:54,485,071...54,501,492

G

zinc finger CCHC-type containing 8

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr12:38,530,037...38,553,595
Ensembl chr12:32,869,310...32,891,325

G

zinc finger protein 185

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:155,874,138...155,919,921
Ensembl chr X:150,831,862...150,874,810

G

ZFP92 zinc finger protein

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:156,268,220...156,293,790
Ensembl chr X:151,117,102...151,143,177

facioscapulohumeral muscular dystrophy 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastin microfibril interfacer 2

ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:118,607,312...118,667,087
Ensembl chr 9:111,160,712...111,220,352

G

lipin 2

ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:118,529,988...118,604,796
Ensembl chr 9:111,083,745...111,158,193

G

myosin light chain 12A

ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:118,338,592...118,346,277
Ensembl chr 9:110,873,959...110,916,580

G

myosin light chain 12B

ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:118,320,479...118,334,810

G

myomesin 1

ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:118,362,547...118,485,954
Ensembl chr 9:110,915,943...111,039,344

G

structural maintenance of chromosomes flexible hinge domain containing 1

ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: SMCHD1-related condition | ClinVar Annotator: match by term: Weakness of facial musculature
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:672092 PMID:8723126 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:111,247,702...111,349,665

G

TGFB-induced factor homeobox 1

ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:110,720,921...110,757,802

facioscapulohumeral muscular dystrophy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ligand dependent nuclear receptor interacting factor 1

ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic

NCBI chr 2:196,919,606...197,010,713
Ensembl chr 2:194,230,951...194,322,483

facioscapulohumeral muscular dystrophy 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA methyltransferase 3 beta

ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic

PMID:25741868 PMID:27153398 PMID:28492532

NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124

Harderoporphyria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coproporphyrinogen oxidase

protein:altered activity:blood, lymphocyte (human)
ClinVar Annotator: match by term: Harderoporphyria

ClinVar
OMIM
RGD

PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 More...

NCBI chr11:55,405,778...55,415,761
Ensembl chr11:41,936,591...41,946,746

hereditary coproporphyria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 6

ClinVar Annotator: match by term: CPO deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria

PMID:22958180 PMID:25741868 PMID:28492532

NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:76,668,554...76,676,924

G

coproporphyrinogen oxidase

ClinVar Annotator: match by term: CPOX-related disorders | ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic | ClinVar Annotator: match by term: Hereditary coproporphyria
OMIM:121300
DNA:missense mutations:exons:multiple
DNA:missense mutations, nonsense mutation:exons:multiple
DNA:mutations:multiple
DNA:missense mutations, deletion, frameshift mutation:multiple
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:6886003 PMID:7757079 PMID:7987309 PMID:8159699 PMID:8286403 More...

RGD:25671430, RGD:25671429, RGD:25671428, RGD:21079461

NCBI chr11:55,405,778...55,415,761
Ensembl chr11:41,936,591...41,946,746

hereditary hypophosphatemic rickets with hypercalciuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

parathyroid hormone

protein:decreased expression:plasma (mouse)

RGD

NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:167,508,598...167,511,530

G

solute carrier family 34 member 1

OMIM:241530
DNA:deletions, snps:multiple (human)

PMID:19570882 PMID:16358215

RGD:7242924, RGD:7242925

NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852

G

solute carrier family 34 member 3

ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More...

NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:8,044,296...8,049,970

Hoyeraal Hreidarsson Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA cross-link repair 1B

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328

NCBI chr 2:193,998,350...194,006,873
Ensembl chr 2:191,309,913...191,318,423

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:7607282 PMID:10583221 PMID:12437656 PMID:16332973 PMID:19734544 More...

NCBI chr X:157,751,651...157,757,796

G

protection of telomeres 1

ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia

PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 PMID:36113475

NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042

G

regulator of telomere elongation helicase 1

DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human)

RGD

NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia

PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome

PMID:25741868 PMID:28492532

NCBI chr15:33,140,611...33,146,930
Ensembl chr15:29,170,652...29,176,984

iminoglycinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 36 member 1

ClinVar Annotator: match by term: Iminoglycinuria

NCBI chr10:39,819,753...39,858,068
Ensembl chr10:39,324,337...39,354,217

G

solute carrier family 36 member 2

ClinVar Annotator: match by term: Iminoglycinuria
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:19033659 PMID:25741868 PMID:28492532

NCBI chr10:39,778,667...39,806,781
Ensembl chr10:39,278,046...39,306,082

G

solute carrier family 6 member 19

ClinVar Annotator: match by term: Iminoglycinuria

PMID:15286787 PMID:15286788 PMID:17555458 PMID:18484095 PMID:19185582 More...

NCBI chr 1:31,414,744...31,434,932
Ensembl chr 1:29,586,195...29,604,962

G

solute carrier family 6 member 20a

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Iminoglycinuria

PMID:21572414 PMID:25741868

NCBI chr 8:132,159,768...132,200,016
Ensembl chr 8:123,281,472...123,322,573

Joubert Syndrome 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 7

ClinVar Annotator: match by term: Joubert syndrome 12

PMID:21633164 PMID:22246503 PMID:25741868 PMID:26174511 PMID:28492532 More...

NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576

Joubert syndrome 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 41

ClinVar Annotator: match by term: CEP41-related condition | ClinVar Annotator: match by term: Joubert syndrome 15

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 More...

NCBI chr 4:60,238,602...60,279,670
Ensembl chr 4:59,271,218...59,310,668

Joubert syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caveolin 3

ClinVar Annotator: match by term: Joubert syndrome 9

NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137

G

coiled-coil and C2 domain containing 2A

no_association

ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron:IVS19+1G>C (human)
DNA:mutations: :multiple

OMIM
ClinVar
CTD
RGD

PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 More...

RGD:11535976, RGD:11062645, RGD:11062645

NCBI chr14:71,563,835...71,648,352
Ensembl chr14:67,351,353...67,435,949

G

centrosomal protein 41

ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic

PMID:20301500 PMID:22246503 PMID:25741868 PMID:28492532 PMID:30664616

NCBI chr 4:60,238,602...60,279,670
Ensembl chr 4:59,271,218...59,310,668

G

mutS homolog 6

ClinVar Annotator: match by term: Joubert syndrome 9

PMID:9390556 PMID:20301390 PMID:20301500 PMID:25741868 PMID:28492532 More...

NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956

G

oxytocin receptor

ClinVar Annotator: match by term: Joubert syndrome 9

NCBI chr 4:147,154,374...147,171,723
Ensembl chr 4:145,599,561...145,614,674

G

retinoid isomerohydrolase RPE65

ClinVar Annotator: match by term: Joubert syndrome 9

PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 More...

NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403

G

SMAD family member 6

ClinVar Annotator: match by term: Joubert syndrome 9

NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:64,450,114...64,519,763

long QT syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:23861362 PMID:24033266 PMID:24123366 PMID:25467552 PMID:25649125 More...

NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:30,056,738...30,192,606

G

ankyrin 2

ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 PMID:18832177 More...

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:215,379,680...215,862,923

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:25741868 PMID:28492532

NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463

G

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More...

NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:151,764,138...152,379,648

G

calmodulin 2

ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24076290 More...

NCBI chr 6:12,845,170...12,857,830
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287

G

calmodulin 3

ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24563457 More...

NCBI chr 1:86,718,761...86,725,869
Ensembl chr 1:77,589,230...77,592,207

G

caveolin 3

ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:09536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15318349 More...

NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137

G

cytochrome P450, family 51

ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 4:30,991,693...31,010,147
Ensembl chr 4:30,036,865...30,055,410
Ensembl chr 6:30,036,865...30,055,410

G

dishevelled-binding antagonist of beta-catenin 3

ClinVar Annotator: match by term: Long QT syndrome 1

NCBI chr 1:86,674,989...86,686,722
Ensembl chr 1:77,546,900...77,558,630

G

desmoplakin

ClinVar Annotator: match by term: Long QT syndrome 1

PMID:19095136 PMID:19279339 PMID:20716751 PMID:21606390 PMID:21606396 More...

NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,623,588...26,671,800

G

fukutin related protein

ClinVar Annotator: match by term: Long QT syndrome 1

NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992

G

G protein subunit gamma 8

ClinVar Annotator: match by term: Long QT syndrome 1

NCBI chr 1:86,692,609...86,696,463
Ensembl chr 1:77,564,515...77,568,371

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 More...

NCBI chr11:45,066,875...45,080,024
Ensembl chr11:31,580,742...31,593,901

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:10219239 PMID:10220144 PMID:10984545 PMID:14760488 PMID:15368194 More...

NCBI chr11:45,003,468...45,015,942
Ensembl chr11:31,295,614...31,530,043

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:260666 PMID:680268 PMID:1100946 PMID:1813917 PMID:2581653 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:10,826,928...10,859,008

G

potassium inwardly-rectifying channel, subfamily J, member 2

ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More...

NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,060,821...96,071,445

G

potassium inwardly-rectifying channel, subfamily J, member 5

ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:25741868 PMID:28492532

NCBI chr 8:38,981,598...39,011,197
Ensembl chr 8:30,724,925...30,753,518

G

potassium voltage-gated channel subfamily Q member 1

susceptibility

OMIM:192500
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

MouseDO
OMIM
ClinVar

PMID:234416 PMID:234478 PMID:234493 PMID:234515 PMID:280141 More...

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:198,291,766...198,624,669

G

oxytocin receptor

ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More...

NCBI chr 4:147,154,374...147,171,723
Ensembl chr 4:145,599,561...145,614,674

G

protein kinase D2

ClinVar Annotator: match by term: Long QT syndrome 1

NCBI chr 1:86,640,095...86,670,476
Ensembl chr 1:77,513,986...77,542,376

G

prostaglandin I2 receptor

ClinVar Annotator: match by term: Long QT syndrome 1

NCBI chr 1:86,707,690...86,710,073
Ensembl chr 1:77,579,596...77,581,979

G

protein tyrosine phosphatase, non-receptor type 11

ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:14644997 PMID:14961557 PMID:15121796 PMID:15723289 PMID:15928039 More...

NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925

G

ryanodine receptor 2

ClinVar Annotator: match by term: Long QT syndrome 1

PMID:25741868 PMID:28492532

NCBI chr17:63,081,527...63,667,141
Ensembl chr17:58,389,925...58,975,142

G

sodium voltage-gated channel beta subunit 4

ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 8:54,343,873...54,359,046
Ensembl chr 8:45,446,215...45,462,292

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:539905 PMID:617273 PMID:1097384 PMID:2437023 PMID:7651517 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769

G

syntrophin, alpha 1

ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:19684871 PMID:20009079 PMID:22584458 PMID:23834499 PMID:23861362 More...

NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:142,876,296...142,906,709

G

striatin 4

ClinVar Annotator: match by term: Long QT syndrome 1

NCBI chr 1:86,614,193...86,639,959
Ensembl chr 1:77,482,094...77,511,858

G

titin

ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval

PMID:25741868 PMID:28492532

NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741

long QT syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Long QT syndrome 2

PMID:23861362 PMID:28492532

NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:30,056,738...30,192,606

G

ALG10, alpha-1,2-glucosyltransferase

ClinVar Annotator: match by term: Long QT syndrome 2

NCBI chr 7:123,214,636...123,225,104
Ensembl chr 7:121,335,042...121,340,308

G

ankyrin 2

ClinVar Annotator: match by term: Long QT syndrome 2

PMID:12571597 PMID:15178757 PMID:17242276 PMID:25741868 PMID:26230511 More...

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:215,379,680...215,862,923

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to

OMIM
ClinVar
CTD

PMID:255267 PMID:260666 PMID:543451 PMID:680268 PMID:805146 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:10,826,928...10,859,008

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Long QT syndrome 2

PMID:9536098 PMID:9570196 PMID:9654228 PMID:10477533 PMID:10973849 More...

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:198,291,766...198,624,669

G

LDL receptor related protein 12

ClinVar Annotator: match by term: Long QT syndrome 2

NCBI chr 7:72,825,979...72,897,308
Ensembl chr 7:70,941,068...71,012,441

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Long QT syndrome 2

PMID:18378609 PMID:21321465 PMID:22581653 PMID:22685113 PMID:25741868 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769

G

syntrophin, alpha 1

ClinVar Annotator: match by term: Long QT syndrome 2

NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:142,876,296...142,906,709

long QT syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel alpha subunit 5

treatment

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Long QT syndrome 3
OMIM:603830
DNA:mutations:cds:

CTD
OMIM
ClinVar
MouseDO
RGD

PMID:235469 PMID:235504 PMID:256650 PMID:291807 PMID:461398 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:119,220,905...119,318,769

long QT syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ClinVar Annotator: match by term: KCNE1-related condition | ClinVar Annotator: match by term: Long QT syndrome 5 | ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More...

NCBI chr11:45,066,875...45,080,024
Ensembl chr11:31,580,742...31,593,901

long QT syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride intracellular channel 6

ClinVar Annotator: match by term: Long QT syndrome 6

PMID:21626672 PMID:28492532

NCBI chr11:45,223,715...45,266,261
Ensembl chr11:31,737,813...31,780,061

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ClinVar Annotator: match by term: Long QT syndrome 6

PMID:21626672 PMID:25640679 PMID:28492532

NCBI chr11:45,066,875...45,080,024
Ensembl chr11:31,580,742...31,593,901

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Long QT syndrome 6 | ClinVar Annotator: match by term: Long QT syndrome 6, acquired, susceptibility to
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:10219239 PMID:10220144 PMID:10973849 PMID:10984545 PMID:11034315 More...

NCBI chr11:45,003,468...45,015,942
Ensembl chr11:31,295,614...31,530,043

G

regulator of calcineurin 1

ClinVar Annotator: match by term: Long QT syndrome 6

PMID:21626672 PMID:28492532

NCBI chr11:45,108,123...45,188,065
Ensembl chr11:31,622,210...31,702,045

G

RUNX family transcription factor 1

ClinVar Annotator: match by term: Long QT syndrome 6

PMID:21626672 PMID:28492532

NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542

G

small integral membrane protein 11

ClinVar Annotator: match by term: Long QT syndrome 6

PMID:21626672 PMID:25640679 PMID:28492532

NCBI chr11:45,019,269...45,028,926
Ensembl chr11:31,532,764...31,543,002

long QT syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caveolin 3

ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More...

NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic

PMID:14661677 PMID:15840476 PMID:17060380 PMID:19716085 PMID:19862833 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:10,826,928...10,859,008

G

oxytocin receptor

ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to

PMID:09536092 PMID:11251997 PMID:11884389 PMID:12666119 PMID:15580566 More...

NCBI chr 4:147,154,374...147,171,723
Ensembl chr 4:145,599,561...145,614,674

G

ssu-2 homolog

ClinVar Annotator: match by term: Long QT syndrome 9

PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More...

NCBI chr 4:147,058,767...147,077,640
Ensembl chr 4:145,503,185...145,521,735

methylmalonic aciduria and homocystinuria type cblC

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily D member 4

ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC

PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More...

NCBI chr 6:109,977,541...109,992,050
Ensembl chr 6:104,246,468...104,280,276

G

doublecortin domain containing 2C

ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC

NCBI chr 6:50,832,407...50,907,437
Ensembl chr 6:45,061,553...45,178,046

G

host cell factor C1

ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase

PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More...

NCBI chr X:156,839,100...156,864,132
Ensembl chr X:151,687,779...151,712,638

G

LMBR1 domain containing 1

ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC

PMID:16199547 PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 More...

NCBI chr 9:34,592,723...34,674,425
Ensembl chr 9:27,096,297...27,178,090

G

metabolism of cobalamin associated C

ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
OMIM:277400
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More...

NCBI chr 5:135,403,094...135,409,285
Ensembl chr 5:130,166,451...130,172,601

G

metabolism of cobalamin associated D

ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC

PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More...

NCBI chr 3:55,117,832...55,135,735
Ensembl chr 3:34,708,649...34,726,771

G

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

ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC

PMID:16983642 PMID:23806086 PMID:24088041 PMID:25687216 PMID:25741868 More...

NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667

G

peroxiredoxin 1

ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: PRDX1-related condition | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16311595 PMID:17576681 PMID:20631720 PMID:23954310 More...

NCBI chr 5:135,383,906...135,399,504
Ensembl chr 5:130,147,204...130,162,856

G

THAP domain containing 11

OMIM:277400

NCBI chr19:50,656,839...50,658,656
Ensembl chr19:33,746,854...33,749,540

Neonatal Pulmonary Hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carbamoyl-phosphate synthase 1

ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to

PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 More...

NCBI chr 9:76,063,863...76,186,739
Ensembl chr 9:68,614,153...68,737,033

ocular albinism with sensorineural deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

melanocyte inducing transcription factor

NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145

G

paired box 3

ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness

NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:79,568,634...79,664,042

G

tyrosinase

ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness

PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More...

NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207

oculocutaneous albinism type IB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tyrosinase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IB | ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: YELLOW ALBINISM | ClinVar Annotator: match by term: Yellow albinism

CTD
OMIM
ClinVar

PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More...

NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207

G

zinc finger DHHC-type palmitoyltransferase 15

ClinVar Annotator: match by term: Oculocutaneous albinism type 1B

NCBI chr X:73,633,977...73,767,451
Ensembl chr X:69,574,124...69,701,756

Parkinson's disease 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldo-keto reductase family 7, member A2

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,835,589...156,844,127
Ensembl chr 5:151,552,343...151,560,909

G

aldo-keto reductase family 7 member A3

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,876,721...156,884,599
Ensembl chr 5:151,584,479...151,601,394

G

aldehyde dehydrogenase 4 family, member A1

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:157,163,189...157,188,673
Ensembl chr 5:151,830,701...151,925,345

G

alkaline phosphatase, biomineralization associated

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:149,951,409...150,006,446

G

complement C1q A chain

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:149,133,636...149,136,534

G

complement C1q B chain

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:149,118,846...149,124,407

G

complement C1q C chain

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:149,127,415...149,131,017

G

calcium/calmodulin-dependent protein kinase II inhibitor 1

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,958,116...155,959,897
Ensembl chr 5:150,673,507...150,676,600

G

capping actin protein of muscle Z-line subunit beta

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,718,619...156,818,623
Ensembl chr 5:151,434,871...151,535,409

G

cytidine deaminase

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,839,929...155,866,541
Ensembl chr 5:150,556,615...150,583,231

G

cell division cycle 42

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:149,553,724...149,593,111

G

chymotrypsin like elastase 3B

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:154,912,170...154,920,333
Ensembl chr 5:149,628,773...149,636,937

G

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

PMID:25741868 PMID:28492532

NCBI chr 5:155,805,612...155,812,728
Ensembl chr 5:150,522,242...150,529,413

G

endothelin converting enzyme 1

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:150,077,644...150,179,371

G

eukaryotic translation initiation factor 4 gamma, 3

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,481,378...155,702,194
Ensembl chr 5:150,195,226...150,418,363

G

ER membrane protein complex subunit 1

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,891,773...156,917,092
Ensembl chr 5:151,608,568...151,633,888

G

Eph receptor A8

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:154,449,566...154,476,966
Ensembl chr 5:149,166,697...149,193,399

G

family with sequence similarity 43, member B

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,893,961...155,896,359
Ensembl chr 5:150,611,609...150,612,601

G

heterochromatin protein 1, binding protein 3

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,719,109...155,746,329
Ensembl chr 5:150,433,740...150,463,000

G

heparan sulfate proteoglycan 2

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594

G

5-hydroxytryptamine receptor 6

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,579,901...156,595,147
Ensembl chr 5:151,296,662...151,311,912

G

intermediate filament family orphan 2

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:157,114,089...157,160,135
Ensembl chr 5:151,830,701...151,925,345

G

kinesin family member 17

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,765,592...155,802,941
Ensembl chr 5:150,481,578...150,519,638

G

low density lipoprotein receptor class A domain containing 2

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,062,172...155,070,752
Ensembl chr 5:149,779,675...149,787,140

G

mitochondrial contact site and cristae organizing system subunit 10

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,624,356...156,650,631
Ensembl chr 5:151,339,176...151,367,485

G

MRT4 homolog, ribosome maturation factor

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,884,985...156,891,738
Ensembl chr 5:151,601,780...151,608,287

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

PMID:18524835 PMID:21457906

NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061

G

mitochondrial fission process 1

mRNA:decreased expression:brain (mouse)

RGD

NCBI chr14:83,192,013...83,195,853
Ensembl chr14:78,968,442...78,972,274

G

mitochondrial E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,936,112...155,945,163
Ensembl chr 5:150,652,812...150,661,863

G

NBL1, DAN family BMP antagonist

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,601,986...156,613,182
Ensembl chr 5:151,318,754...151,338,719

G

OTU deubiquitinase 3

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,419,099...156,445,341
Ensembl chr 5:151,140,059...151,163,560

G

Parkinsonism associated deglycase

ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1

NCBI chr 5:166,636,551...166,659,825
Ensembl chr 5:161,353,719...161,376,970

G

PTEN induced kinase 1

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, EARLY-ONSET | ClinVar Annotator: match by term: PINK1-Related Parkinsonism | ClinVar Annotator: match by term: Parkinson disease 6 | ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
OMIM:605909
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:2345993 PMID:9536098 PMID:15087508 PMID:15349860 PMID:15349870 More...

NCBI chr 5:155,813,838...155,825,950
Ensembl chr 5:150,530,523...150,542,635

G

phospholipase A2 group IIA

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,359,725...156,362,302
Ensembl chr 5:151,076,442...151,079,014

G

phospholipase A2, group IIC

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,241,142...156,262,368
Ensembl chr 5:150,959,182...150,981,377

G

phospholipase A2, group IID

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,299,374...156,305,816
Ensembl chr 5:151,018,870...151,022,525

G

phospholipase A2, group IIE

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,404,639...156,410,421
Ensembl chr 5:151,121,439...151,126,821

G

phospholipase A2, group IIF

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,270,077...156,276,464
Ensembl chr 5:150,986,788...150,993,175

G

phospholipase A2, group V

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,324,628...156,393,065
Ensembl chr 5:151,041,340...151,062,658

G

Rap1 GTPase-activating protein

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,157,511...155,222,622
Ensembl chr 5:149,892,019...149,939,253

G

ring finger protein 186

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,493,750...156,494,974
Ensembl chr 5:151,210,492...151,211,716

G

SH2 domain containing 5

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,753,087...155,763,936
Ensembl chr 5:150,467,728...150,479,955

G

solute carrier family 66 member 1

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,821,084...156,835,558
Ensembl chr 5:151,542,376...151,552,259

G

transmembrane and coiled-coil domains 4

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,498,506...156,577,967
Ensembl chr 5:151,216,812...151,294,723

G

ubiquitin protein ligase E3 component n-recognin 4

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,919,029...157,027,127
Ensembl chr 5:151,635,868...151,743,784

G

UBX domain protein 10

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,237,041...156,242,877
Ensembl chr 5:150,950,731...150,959,744

G

ubiquitin specific peptidase 48

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:155,083,520...155,151,208
Ensembl chr 5:149,800,179...149,867,719

G

von Willebrand factor A domain containing 5B1

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:156,080,599...156,148,155
Ensembl chr 5:150,797,322...150,852,518

G

Wnt family member 4

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:154,797,245...154,818,565
Ensembl chr 5:149,514,018...149,532,859

G

zinc finger and BTB domain containing 40

ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6

NCBI chr 5:154,499,952...154,569,390
Ensembl chr 5:149,219,677...149,254,415

primary pulmonary hypertension

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abl-interactor 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:69,321,072...69,490,630
Ensembl chr 9:61,827,139...61,905,699

G

acyl-CoA dehydrogenase, long chain

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:75,783,689...75,822,077
Ensembl chr 9:68,333,980...68,372,220

G

activin A receptor like type 1

ClinVar Annotator: match by term: Heritable pulmonary arterial hypertension

PMID:25741868 PMID:28492532 PMID:31727138

NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591

G

ADAM metallopeptidase domain 23

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:72,356,479...72,503,545
Ensembl chr 9:64,862,878...65,006,515

G

adenosine A2a receptor

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr20:13,315,270...13,332,802
Ensembl chr20:13,315,853...13,333,386

G

alsin Rho guanine nucleotide exchange factor ALS2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737

G

bone morphogenetic protein receptor type 1B

ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension

PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532

NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:230,541,558...230,871,368

G

bone morphogenetic protein receptor type 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

CTD
ClinVar
MouseDO

PMID:3291115 PMID:9536098 PMID:10903931 PMID:10973254 PMID:11015450 More...

NCBI chr 9:68,685,942...68,801,353
Ensembl chr 9:61,190,566...61,301,809

G

calcium responsive transcription factor

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:68,996,419...69,046,480
Ensembl chr 9:61,506,956...61,550,462

G

caveolin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705

G

cyclin Y-like 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:73,565,484...73,601,926
Ensembl chr 9:66,071,543...66,107,999

G

Cd28 molecule

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685

G

cyclin-dependent kinase 15

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr 9:68,205,759...68,299,218
Ensembl chr 9:60,711,715...60,802,777

G

chemerin chemokine-like receptor 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:72,077,164...72,111,979
Ensembl chr 9:64,585,594...64,586,655

G

carboxypeptidase O

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:72,813,802...72,832,056

G

carbamoyl-phosphate synthase 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:76,063,863...76,186,739
Ensembl chr 9:68,614,153...68,737,033

G

cAMP responsive element binding protein 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:65,903,547...65,970,816

G

crystallin, gamma A

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:73,975,914...74,006,614
Ensembl chr 9:66,482,176...66,509,896

G

crystallin, gamma B

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:73,955,204...73,957,264
Ensembl chr 9:66,461,460...66,463,520

G

crystallin, gamma C

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:73,945,332...73,947,367
Ensembl chr 9:66,451,593...66,453,626

G

crystallin, gamma D

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:73,935,798...73,937,409
Ensembl chr 9:66,442,054...66,444,067

G

cytotoxic T-lymphocyte-associated protein 4

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

cytochrome P450, family 20, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:69,249,841...69,299,146
Ensembl chr 9:61,755,790...61,805,123

G

dystrotelin

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:72,531,151...72,592,486
Ensembl chr 9:65,037,493...65,098,549

G

eukaryotic translation elongation factor 1 beta 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:72,074,091...72,076,591
Ensembl chr 9:64,579,893...64,582,737

G

family with sequence similarity 117, member B

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:68,834,334...68,902,543
Ensembl chr 9:61,340,249...61,408,483

G

FAST kinase domains 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:72,659,961...72,681,986
Ensembl chr 9:65,168,228...65,188,174

G

F-box protein 32

mRNA:increased expression:vastus lateralis

RGD

NCBI chr 7:91,620,925...91,654,491
Ensembl chr 7:89,730,232...89,765,436

G

fibroblast growth factor receptor 2

protein:increased expression:lung (human)

RGD

NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626

G

forkhead box F1

ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension

PMID:19500772 PMID:19592680 PMID:19812545 PMID:20425831 PMID:22766610 More...

NCBI chr19:66,062,635...66,066,427
Ensembl chr19:49,153,699...49,157,738

G

frizzled class receptor 5

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:73,606,860...73,614,039
Ensembl chr 9:66,113,112...66,121,457

G

frizzled class receptor 7

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr 9:68,425,538...68,428,357
Ensembl chr 9:60,930,875...60,935,781

G

histone deacetylase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111

G

histone deacetylase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164

G

histone deacetylase 5

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,653,139...87,688,078
Ensembl chr10:87,152,978...87,188,235

G

islet cell autoantigen 1-like

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:68,906,148...68,964,078
Ensembl chr 9:61,412,091...61,470,134

G

inducible T-cell co-stimulator

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:62,383,832...62,405,672

G

inhibitor of DNA binding 1

protein:decreased expression:lung, wall of arteriole (human)

RGD

NCBI chr 3:161,671,525...161,672,691
Ensembl chr 3:141,211,267...141,212,419

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708

G

INO80 complex subunit D

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:71,940,941...72,007,879
Ensembl chr 9:64,457,165...64,515,242

G

KAT8 regulatory NSL complex subunit 1-like

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:75,660,865...75,766,730
Ensembl chr 9:68,211,189...68,300,222

G

potassium two pore domain channel subfamily K member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,483,129...31,519,061
Ensembl chr 6:25,763,228...25,799,153

G

KLF transcription factor 7

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:72,927,485...73,020,167
Ensembl chr 9:65,437,167...65,526,261

G

LanC like glutathione S-transferase 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:75,968,284...75,998,397
Ensembl chr 9:68,518,574...68,548,628

G

microtubule-associated protein 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:67,723,371...67,979,809

G

malate dehydrogenase 1B

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:72,614,185...72,661,820
Ensembl chr 9:65,119,029...65,167,933

G

methyltransferase 21A, HSPA lysine

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:73,400,223...73,484,677
Ensembl chr 9:65,978,051...65,987,550

G

mitofusin 1

protein:decreased expression:vastus lateralis

RGD

NCBI chr 2:117,240,525...117,288,017
Ensembl chr 2:115,313,401...115,359,640

G

mitofusin 2

protein:decreased expression:vastus lateralis

RGD

NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342

G

microRNA 23a

RNA:increased expression:serum

RGD

NCBI chr19:40,859,769...40,859,843
Ensembl chr19:23,954,997...23,955,071

G

myosin, light chain 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

Ensembl chr 9:68,437,517...68,458,261

G

neurobeachin-like 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:69,069,326...69,237,932
Ensembl chr 9:61,575,356...61,736,750

G

NADH:ubiquinone oxidoreductase core subunit S1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:72,040,286...72,073,605
Ensembl chr 9:64,546,225...64,579,893

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr 9:68,614,992...68,638,911
Ensembl chr 9:61,120,929...61,144,810

G

neuropilin 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:71,616,602...71,731,869
Ensembl chr 9:64,123,132...64,237,958

G

par-3 family cell polarity regulator beta

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:70,532,358...71,561,044
Ensembl chr 9:63,038,436...64,068,053

G

phosphoinositide kinase, FYVE-type zinc finger containing

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:74,057,488...74,151,610
Ensembl chr 9:66,563,727...66,657,868

G

pleckstrin homology domain containing M3

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:73,659,998...73,819,079
Ensembl chr 9:66,166,321...66,325,294

G

peroxisome proliferator-activated receptor gamma

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468

G

prostaglandin I2 synthase

DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human)

RGD

NCBI chr 3:176,347,589...176,383,251
Ensembl chr 3:155,916,412...155,965,451

G

parathyroid hormone 2 receptor

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:74,199,785...74,304,326
Ensembl chr 9:66,706,050...66,810,036

G

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:69,397,272...69,484,174
Ensembl chr 9:61,907,758...61,961,209

G

replication factor C subunit 1

mRNA:increased expression:lung (human)

RGD

NCBI chr14:43,319,768...43,395,028
Ensembl chr14:42,966,324...43,041,370

G

ribulose-5-phosphate-3-epimerase

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:75,640,867...75,661,009
Ensembl chr 9:68,191,292...68,211,591

G

ryanodine receptor 1

protein:increased phosphorylation:vastus lateralis

RGD

NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812

G

SMAD family member 9

CTD Direct Evidence: marker/mechanism
OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr 2:141,106,668...141,156,477
Ensembl chr 2:138,986,471...139,006,307

G

SRY-box transcription factor 17

protein:decreased expression:pulmonary artery (human)

RGD

NCBI chr 5:19,814,345...19,819,859
Ensembl chr 5:15,016,731...15,022,228

G

small ubiquitin-like modifier 1

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074

NCBI chr 9:68,572,901...68,602,803
Ensembl chr 9:61,077,435...61,108,761

G

TNF superfamily member 4

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr13:76,256,654...76,280,133
Ensembl chr13:73,723,329...73,746,788

G

tripartite motif containing 63

mRNA, protein:increased expression:vastus lateralis

RGD

NCBI chr 5:151,817,209...151,831,026
Ensembl chr 5:146,533,507...146,547,322

G

unc-80 homolog, NALCN channel complex subunit

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:75,461,618...75,639,849
Ensembl chr 9:68,011,728...68,187,659

G

vasoactive intestinal peptide

OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344

NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216

G

WD repeat domain 12

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:68,969,547...68,996,811
Ensembl chr 9:61,475,517...61,502,469

G

zinc finger, DBF-type containing 2

ClinVar Annotator: match by term: Primary pulmonary hypertension

PMID:28492532 PMID:31727138

NCBI chr 9:72,203,598...72,242,287
Ensembl chr 9:64,709,880...64,744,265

primary pulmonary hypertension 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:9245985 PMID:12700602 PMID:14684682 PMID:15024723 PMID:15879500 More...

NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: BMPR2-related disorder | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia

PMID:3291115 PMID:9536098 PMID:9886286 PMID:10903931 PMID:10973254 More...

NCBI chr 9:68,685,942...68,801,353
Ensembl chr 9:61,190,566...61,301,809

G

endoglin

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:16690726 PMID:16754821 PMID:18498373 PMID:23298310 PMID:24033266 More...

NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230

G

potassium voltage-gated channel subfamily A member 5

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:20018952 PMID:21685056 PMID:23861362 PMID:24068186 PMID:25076992 More...

NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:159,350,097...159,357,697

G

potassium two pore domain channel subfamily K member 3

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 6:31,483,129...31,519,061
Ensembl chr 6:25,763,228...25,799,153

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 9:68,614,992...68,638,911
Ensembl chr 9:61,120,929...61,144,810

G

phenylalanine hydroxylase

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:1301187 PMID:1682234 PMID:1769645 PMID:2044609 PMID:2574153 More...

NCBI chr 7:23,793,096...23,885,631
Ensembl chr 7:21,933,179...21,998,130

G

SMAD family member 1

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr19:45,417,430...45,477,962
Ensembl chr19:28,513,131...28,573,651

G

SMAD family member 4

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:21898662 PMID:24728327 PMID:25502805 PMID:25741868 PMID:28492532 More...

NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438

G

SMAD family member 9

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 2:141,106,668...141,156,477
Ensembl chr 2:138,986,471...139,006,307

G

small nucleolar RNA, C/D box 11

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 9:68,631,817...68,631,900
Ensembl chr 9:61,137,715...61,137,798

G

small nucleolar RNA, C/D box 11B

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 9:68,631,270...68,631,349
Ensembl chr 9:61,137,168...61,137,247

G

small nucleolar RNA, C/D box 70

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 9:68,620,078...68,620,164
Ensembl chr 9:61,125,974...61,126,060

G

small nucleolar RNA, C/D box 70B

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

NCBI chr 9:68,620,849...68,620,932
Ensembl chr 9:61,126,745...61,126,828

G

T-box transcription factor 4

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1

PMID:9536098 PMID:15106123 PMID:16199547 PMID:17576681 PMID:23592887 More...

NCBI chr10:71,228,145...71,258,222
Ensembl chr10:70,731,163...70,760,825

primary pulmonary hypertension 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SMAD family member 9

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2 | ClinVar Annotator: match by term: SMAD9-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19211612 PMID:19419974 More...

NCBI chr 2:141,106,668...141,156,477
Ensembl chr 2:138,986,471...139,006,307

primary pulmonary hypertension 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1B

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3

PMID:25741868 PMID:28492532

NCBI chr 2:233,211,525...233,544,344
Ensembl chr 2:230,541,558...230,871,368

G

caveolin 1

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3

PMID:22474227 PMID:25741868 PMID:28492532 PMID:29231014 PMID:31727138 More...

NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705

primary pulmonary hypertension 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium two pore domain channel subfamily K member 3

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4

PMID:9536098 PMID:17576681 PMID:23883380 PMID:24033266 PMID:25741868 More...

NCBI chr 6:31,483,129...31,519,061
Ensembl chr 6:25,763,228...25,799,153

primary pulmonary hypertension 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase 13A3

ClinVar Annotator: match by term: ATP13A3-related condition | ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive

PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More...

NCBI chr11:83,860,725...83,946,899
Ensembl chr11:70,365,322...70,441,235

primary pulmonary hypertension 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calpain, small subunit 1

ClinVar Annotator: match by term: Pulmonary hypertension, primary, 6

PMID:21972389 PMID:38230350

NCBI chr 1:94,572,083...94,582,332
Ensembl chr 1:85,444,608...85,454,795

proteasome-associated autoinflammatory syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 16A, phospholipase

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,723,756...3,738,617
Ensembl chr20:3,719,091...3,733,927

G

advanced glycosylation end product-specific receptor

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

1-acylglycerol-3-phosphate O-acyltransferase 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,140,565...4,149,531
Ensembl chr20:4,135,957...4,145,278

G

allograft inflammatory factor 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668

G

ankyrin repeat and sterile alpha motif domain containing 1A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,965,421...6,118,875
Ensembl chr20:5,963,678...6,117,148

G

apolipoprotein M

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,695,618...3,698,218
Ensembl chr20:3,688,413...3,693,550

G

armadillo repeat containing 12

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,589,573...6,600,059
Ensembl chr20:6,587,859...6,598,352

G

activating transcription factor 6 beta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,095,534...4,103,534
Ensembl chr20:4,090,921...4,098,894

G

ATPase H+ transporting V1 subunit G2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,592,374...3,595,986
Ensembl chr20:3,587,686...3,590,481

G

Beta-1,3-galactosyltransferase 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,937,974...4,939,549
Ensembl chr20:4,931,768...4,938,315

G

BAG cochaperone 6

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,680,607...3,693,329
Ensembl chr20:3,675,938...3,688,657

G

BCL2-antagonist/killer 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,102,334...5,111,615
Ensembl chr20:5,100,480...5,109,264

G

bridge-like lipid transfer protein family member 3A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,912,033...5,956,404
Ensembl chr20:5,910,260...5,952,404

G

BCL2 interacting protein 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,957,899...6,976,749
Ensembl chr20:6,956,201...6,975,091

G

bromodomain containing 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,728,282...4,737,286
Ensembl chr20:4,728,151...4,735,388

G

bromodomain and PHD finger containing, 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,866,378...6,904,456
Ensembl chr20:6,865,985...6,902,690

G

butyrophilin-like 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,492,100...4,505,932
Ensembl chr20:4,489,517...4,503,341

G

complement C2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505

G

similar to human chromosome 6 open reading frame 15

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,177,040...3,178,596
Ensembl chr20:3,172,330...3,173,886

G

similar to human chromosome 6 open reading frame 89

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,324,105...7,368,482
Ensembl chr20:7,322,442...7,357,612

G

complement C4A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,010,306...4,024,707
Ensembl chr20:4,005,731...4,020,080

G

complement C4B

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,201,979...4,216,292
Ensembl chr20:4,197,366...4,211,681

G

coiled-coil alpha-helical rod protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,210,383...3,223,187
Ensembl chr20:3,205,676...3,218,308

G

cyclin-dependent kinase inhibitor 1A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585

G

corneodesmosin

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,184,142...3,188,962
Ensembl chr20:3,179,438...3,184,250

G

complement factor B

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

chloride intracellular channel 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,769,522...3,778,367
Ensembl chr20:3,761,461...3,773,712

G

colipase

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,622,234...6,624,414
Ensembl chr20:6,620,529...6,622,689

G

colipase-like 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,609,832...6,612,655
Ensembl chr20:6,608,128...6,610,951

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,786,929...4,815,985

G

copine 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,208,389...7,290,959
Ensembl chr20:7,206,742...7,288,883

G

casein kinase 2 beta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,704,833...3,709,999
Ensembl chr20:3,698,733...3,707,133

G

cutA divalent cation tolerance homolog

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,024,816...5,026,446
Ensembl chr20:5,022,956...5,024,552

G

death-domain associated protein

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,970,092...4,975,843

G

DDAH family member 2, ADMA-independent

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,766,115...3,769,161
Ensembl chr20:3,761,465...3,764,511

G

discoidin domain receptor tyrosine kinase 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,047,269...3,069,277
Ensembl chr20:3,044,320...3,064,468

G

DExD-box helicase 39B

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,577,200...3,589,651
Ensembl chr20:3,572,056...3,584,996

G

DEF6 guanine nucleotide exchange factor

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,270,323...6,291,724
Ensembl chr20:6,268,601...6,289,961

G

decapping exoribonuclease

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,997,953...4,000,115
Ensembl chr20:3,993,327...3,995,494

G

EGF-like-domain, multiple 8

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,137,531...4,140,632
Ensembl chr20:4,133,629...4,136,018

G

euchromatic histone lysine methyltransferase 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,924,263...3,941,238
Ensembl chr20:3,919,624...3,941,547

G

FA complementation group E

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,371,153...6,388,366
Ensembl chr20:6,375,573...6,386,631

G

FKBP prolyl isomerase 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,458,931...6,577,227
Ensembl chr20:6,457,216...6,541,674

G

FKBP prolyl isomerase like

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,104,457...4,105,927
Ensembl chr20:4,099,806...4,101,368

G

flotillin 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:2,922,662...2,932,906
Ensembl chr20:2,917,137...2,927,978

G

G4 protein

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,698,359...3,701,036
Ensembl chr20:3,693,649...3,696,088

G

G patch domain and ankyrin repeats 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,702,309...3,705,476
Ensembl chr20:3,697,641...3,700,858

G

G-protein signaling modulator 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,161,730...4,163,591
Ensembl chr20:4,157,123...4,159,035

G

glutamate metabotropic receptor 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,486,024...5,574,668
Ensembl chr20:5,481,124...5,572,821

G

general transcription factor 2H subunit 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,076,110...3,081,805
Ensembl chr20:3,071,328...3,076,984

G

high mobility group AT-hook 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,612,902...5,620,596
Ensembl chr20:5,611,694...5,618,752

G

hydroxysteroid (17-beta) dehydrogenase 8

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,828,571...4,830,635
Ensembl chr20:4,822,026...4,828,742

G

heat shock protein family A (Hsp70) member 1A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227

G

heat shock protein family A (Hsp70) member 1B

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240

G

heat shock protein family A (Hsp70) member 1 like

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,853,496...3,860,223
Ensembl chr20:3,848,843...3,855,571

G

immediate early response 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:2,933,173...2,934,377
Ensembl chr20:2,928,378...2,929,583

G

inflammation and lipid regulator with UBA-like and NBR1-like domains

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,811,721...5,878,082
Ensembl chr20:5,809,936...5,876,012

G

inositol hexakisphosphate kinase 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,225,706...5,247,293
Ensembl chr20:5,224,120...5,245,428

G

inositol 1,4,5-trisphosphate receptor, type 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,138,553...5,204,189
Ensembl chr20:5,136,441...5,202,337

G

potassium channel tetramerization domain containing 20

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,017,480...7,034,440
Ensembl chr20:7,015,833...7,032,761

G

kinesin family member C1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,000,929...5,018,967
Ensembl chr20:4,999,047...5,017,105

G

LEM domain nuclear envelope protein 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,284,275...5,298,281
Ensembl chr20:5,282,397...5,296,626

G

LHFPL tetraspan subfamily member 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,634,058...6,644,264
Ensembl chr20:6,632,362...6,642,532

G

LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,848,120...3,853,298
Ensembl chr20:3,843,466...3,847,266

G

leukocyte specific transcript 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,639,353...3,644,399
Ensembl chr20:3,634,749...3,637,997

G

lymphotoxin alpha

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859

G

lymphotoxin beta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,632,209...3,634,054
Ensembl chr20:3,627,537...3,629,381

G

lymphocyte antigen 6 family member G5B

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,710,132...3,712,193
Ensembl chr20:3,706,124...3,707,133

G

lymphocyte antigen 6 family member G5C

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,714,094...3,718,861
Ensembl chr20:3,709,529...3,713,608

G

lymphocyte antigen 6 family member G6C

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,758,290...3,760,987
Ensembl chr20:3,753,632...3,758,867

G

lymphocyte antigen 6 family member G6D

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,746,630...3,757,036
Ensembl chr20:3,737,459...3,752,248

G

lymphocyte antigen 6 family member G6F

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,742,116...3,746,984
Ensembl chr20:3,737,459...3,752,248

G

mitogen activated protein kinase 13

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,836,979...6,847,197
Ensembl chr20:6,835,320...6,844,222

G

mitogen activated protein kinase 14

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589

G

MHC class I polypeptide-related sequence B

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 1:87,623,826...87,641,075
Ensembl chr 1:78,495,779...78,512,827

G

MHC I like leukocyte 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 1:87,500,591...87,526,983
Ensembl chr 1:78,372,802...78,398,930

G

microRNA 219a-1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,831,580...4,831,689
Ensembl chr20:4,829,687...4,829,796

G

motilin

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,306,126...5,310,825
Ensembl chr20:5,304,249...5,308,948

G

megakaryocyte and platelet inhibitory receptor G6b

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,761,832...3,765,679
Ensembl chr20:3,757,536...3,760,735

G

mutS homolog 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,779,180...3,797,996
Ensembl chr20:3,776,942...3,793,336

G

mitochondrial carrier 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,391,558...7,415,291
Ensembl chr20:7,389,949...7,413,426

G

mucin like 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,105,360...3,113,278
Ensembl chr20:3,100,679...3,108,569

G

natural cytotoxicity triggering receptor 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,642,912...3,648,425
Ensembl chr20:3,638,240...3,643,799

G

negative elongation factor complex member E

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,981,259...3,987,016
Ensembl chr20:3,976,518...3,982,355

G

neuraminidase 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,902,120...3,906,383
Ensembl chr20:3,897,480...3,901,745

G

NFKB inhibitor like 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,595,319...3,610,295
Ensembl chr20:3,590,642...3,605,616

G

notch receptor 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465

G

nudix hydrolase 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,636,184...5,688,770
Ensembl chr20:5,634,349...5,686,874

G

protein kinase C and casein kinase substrate in neurons 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,719,929...5,769,492
Ensembl chr20:5,719,857...5,765,313

G

PBX homeobox 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,156,107...4,161,503
Ensembl chr20:4,151,500...4,156,425

G

prefoldin subunit 6

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,947,844...4,949,318
Ensembl chr20:4,945,959...4,947,433

G

PHD finger protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,019,650...5,024,732
Ensembl chr20:5,017,893...5,022,871

G

peptidase inhibitor 16

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,377,739...7,387,003
Ensembl chr20:7,376,126...7,385,383

G

patatin-like phospholipase domain containing 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,919,689...6,953,850
Ensembl chr20:6,917,931...6,952,375

G

POU class 5 homeobox 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,227,836...3,232,598
Ensembl chr20:3,223,129...3,227,891

G

peroxisome proliferator-activated receptor delta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,300,527...6,365,707
Ensembl chr20:6,298,785...6,363,968

G

peptidylprolyl isomerase like 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,303,919...7,323,962
Ensembl chr20:7,302,621...7,322,354

G

palmitoyl-protein thioesterase 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,117,088...4,137,382
Ensembl chr20:4,122,463...4,132,774

G

proline-rich coiled-coil 2A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,660,981...3,686,715
Ensembl chr20:3,658,695...3,674,130

G

proline-rich transmembrane protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,122,565...4,126,386
Ensembl chr20:4,117,957...4,121,600

G

proteasome 20S subunit alpha 3

ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC

PMID:21953331 PMID:26524591

NCBI chr 6:95,219,714...95,239,745
Ensembl chr 6:89,483,727...89,504,965

G

proteasome 20S subunit beta 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr 2:185,131,787...185,134,561
Ensembl chr 2:182,442,756...182,445,746

G

proteasome 20S subunit beta 8

ClinVar Annotator: match by term: PSMB8-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 More...

NCBI chr20:4,654,068...4,657,049
Ensembl chr20:4,652,159...4,655,283

G

proteasome 20S subunit beta 9

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512

G

psoriasis susceptibility 1 candidate 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,206,886...3,208,307
Ensembl chr20:3,202,174...3,203,599

G

peroxisomal testis enriched protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,003,951...7,006,976
Ensembl chr20:7,002,271...7,006,780

G

RAB44, member RAS oncogene family

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,166,219...7,200,114
Ensembl chr20:7,164,720...7,198,468

G

ral guanine nucleotide dissociation stimulator like 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,950,379...4,958,315
Ensembl chr20:4,948,497...4,969,911

G

ring finger protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,832,013...4,835,516
Ensembl chr20:4,830,053...4,833,620

G

ring finger protein 5

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,150,032...4,152,593
Ensembl chr20:4,145,507...4,147,985

G

ribosomal protein L10A

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,390,533...6,393,091
Ensembl chr20:6,385,823...6,391,357
Ensembl chr 9:6,385,823...6,391,357

G

ribosomal protein S10

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,696,135...5,700,863
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044

G

ribosomal protein S18

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,933,741...4,937,423
Ensembl chr20:4,931,768...4,938,315

G

RT1 class II, locus Ba

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Da

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,512,911...4,518,455

G

RT1 class II, locus Db1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus DMa

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,708,932...4,712,335
Ensembl chr20:4,707,028...4,710,432

G

RT1 class II, locus DMb

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,695,009...4,702,560
Ensembl chr20:4,693,103...4,700,340

G

RT1 class II, locus DOa

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,755,287...4,758,491
Ensembl chr20:4,753,598...4,756,577

G

RT1 class II, locus DOb

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,621,336...4,627,537
Ensembl chr20:4,619,816...4,625,667

G

RT1 class II, locus Ha

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,762,425...4,772,439
Ensembl chr20:4,760,118...4,770,244

G

RT1 class II, locus Hb, pseudogene 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618

G

retinoid X receptor beta

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,818,707...4,824,968
Ensembl chr20:4,816,815...4,828,773

G

suppressor APC domain containing 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,798,124...3,800,422
Ensembl chr20:3,793,967...3,795,790

G

signal peptide, CUB domain and EGF like domain containing 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,200,891...6,232,848
Ensembl chr20:6,199,182...6,228,584

G

surfactant associated 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,098,313...3,099,038
Ensembl chr20:3,093,565...3,094,299

G

SKI2 subunit of superkiller complex

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,987,130...3,997,887
Ensembl chr20:3,982,593...3,993,261

G

solute carrier family 26 member 8

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,687,207...6,751,184
Ensembl chr20:6,697,723...6,749,478

G

solute carrier family 39 member 7

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,824,967...4,828,431
Ensembl chr20:4,822,012...4,826,537

G

solute carrier family 44, member 4

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,907,737...3,923,911
Ensembl chr20:3,903,099...3,919,215

G

small integral membrane protein 29

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,620,686...5,622,730
Ensembl chr20:5,618,845...5,620,813

G

small nuclear ribonucleoprotein polypeptide C

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,890,229...5,908,410
Ensembl chr20:5,888,453...5,906,638
Ensembl chr10:5,888,453...5,906,638

G

SAM pointed domain containing ets transcription factor

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,773,236...5,787,685
Ensembl chr20:5,771,441...5,785,893

G

SRSF protein kinase 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,647,539...6,684,129
Ensembl chr20:6,645,809...6,682,134

G

serine and arginine rich splicing factor 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,093,529...7,103,517
Ensembl chr20:7,091,910...7,101,078

G

serine/threonine kinase 38

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:7,035,923...7,070,657
Ensembl chr20:7,034,242...7,068,198

G

synaptic Ras GTPase activating protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,028,226...5,058,519
Ensembl chr20:5,026,364...5,056,672

G

TATA-box binding protein associated factor 11

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,957,540...5,965,354
Ensembl chr20:5,955,777...5,961,905

G

transporter 1, ATP binding cassette subfamily B member

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901

G

transporter 2, ATP binding cassette subfamily B member

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407

G

TAP binding protein

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,958,821...4,967,958
Ensembl chr20:4,956,937...4,966,181

G

transcription factor 19

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,223,464...3,227,569
Ensembl chr20:3,218,693...3,223,271

G

t-complex 11

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,128,001...6,140,152
Ensembl chr20:6,126,269...6,136,055

G

TEA domain transcription factor 3

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,393,786...6,413,177
Ensembl chr20:6,392,053...6,411,446

G

tumor necrosis factor

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

tenascin XB

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

G

testis expressed basic protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,411,926...4,469,214
Ensembl chr20:4,410,004...4,457,053

G

TUB like protein 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,413,901...6,425,833
Ensembl chr20:6,412,171...6,424,073

G

ubiquinol-cytochrome c reductase complex assembly factor 2

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,204,682...5,217,080
Ensembl chr20:5,202,837...5,214,164
Ensembl chr17:5,202,837...5,214,164

G

valyl-tRNA synthetase 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,810,427...3,825,193
Ensembl chr20:3,805,776...3,820,298

G

valyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,081,869...3,092,907
Ensembl chr20:3,077,132...3,087,994

G

VPS52 subunit of GARP complex

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,922,599...4,933,458
Ensembl chr20:4,860,843...4,931,665

G

von Willebrand factor A domain containing 7

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,799,646...3,810,289
Ensembl chr20:3,794,991...3,805,525

G

WD repeat domain 46

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,939,721...4,947,619
Ensembl chr20:4,937,847...4,946,535

G

winged helix repair factor 1

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,000,216...4,009,743
Ensembl chr20:3,995,587...4,005,116

G

zinc finger and BTB domain containing 12

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:3,942,302...3,945,148

G

zinc finger and BTB domain containing 22

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:4,968,215...4,971,734
Ensembl chr20:4,966,271...4,969,498

G

zinc finger and BTB domain containing 9

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:5,059,296...5,069,422
Ensembl chr20:5,057,434...5,062,819

G

zinc finger protein 523

ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1

NCBI chr20:6,234,951...6,268,258
Ensembl chr20:6,243,582...6,266,511

proteosome-associated autoinflammatory syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proteasome 20S subunit beta 4

ClinVar Annotator: match by term: PSMB4-related condition

PMID:25741868 PMID:26524591 PMID:28492532

NCBI chr 2:185,131,787...185,134,561
Ensembl chr 2:182,442,756...182,445,746

retinitis pigmentosa 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peripherin 2

ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic
OMIM:608133
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:1684223 PMID:3441139 PMID:3646071 PMID:7493155 PMID:7825692 More...

NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:14,066,156...14,081,454

G

retinal outer segment membrane protein 1

ClinVar Annotator: match by term: ROM1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7904211 PMID:8202715 PMID:16799052 PMID:25741868 PMID:26103963 More...

NCBI chr 1:215,253,155...215,255,163
Ensembl chr 1:205,824,052...205,826,175

Revesz syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transglutaminase 1

ClinVar Annotator: match by term: Revesz syndrome

PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More...

NCBI chr15:33,160,985...33,175,632
Ensembl chr15:29,191,041...29,204,523

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Revesz syndrome | ClinVar Annotator: match by term: TINF2-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 More...

NCBI chr15:33,140,611...33,146,930
Ensembl chr15:29,170,652...29,176,984

short-rib thoracic dysplasia 7 with or without polydactyly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrilin 3

ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly

PMID:25741868 PMID:28492532

NCBI chr 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101

G

WD repeat domain 35

ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly
OMIM:614091

OMIM
ClinVar
MouseDO

PMID:17935248 PMID:21473986 PMID:22486404 PMID:25741868 PMID:25908617 More...

NCBI chr 6:37,490,557...37,550,391
Ensembl chr 6:31,771,360...31,831,029

spinocerebellar ataxia type 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP synthase F1 subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 7:1,100,058...1,106,461
Ensembl chr 7:515,460...567,273

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079

G

heat shock protein family A (Hsp70) member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891

G

heat shock protein family A (Hsp70) member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259

G

hypoxia up-regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:53,602,882...53,614,998
Ensembl chr 8:44,706,263...44,718,186

G

NAD(P)H quinone dehydrogenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557

G

prolyl 4-hydroxylase subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr10:106,335,300...106,346,911
Ensembl chr10:105,836,982...105,848,500

G

protein disulfide isomerase family A, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:128,841,781...128,865,733
Ensembl chr 3:108,388,245...108,413,236

G

TATA box binding protein

susceptibility

OMIM:607136
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 17

OMIM
MouseDO
CTD
ClinVar
RGD

PMID:25741868 PMID:23699518

NCBI chr 1:65,136,420...65,153,515
Ensembl chr 1:56,463,618...56,510,016

Usher syndrome type 1D

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

similar to human chromosome 10 open reading frame 105

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D

PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More...

NCBI chr20:28,876,519...28,880,120
Ensembl chr20:28,336,101...28,336,487

G

cadherin-related 23

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
OMIM:601067
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More...

NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,240,645...28,622,419

G

protocadherin related 15

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More...

NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,963,565...15,494,719

G

prosaposin

ClinVar Annotator: match by term: Usher syndrome type 1D

PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More...

NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,214,271...28,240,498

G

V-set immunoregulatory receptor

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID

NCBI chr20:28,824,493...28,850,175
Ensembl chr20:28,281,596...28,303,878

Usher syndrome type 2C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
OMIM:605472
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:3258136 PMID:3442652 PMID:9536098 PMID:10234513 PMID:14740321 More...

NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:11,331,442...11,911,688

G

connector enhancer of kinase suppressor of Ras 1

ClinVar Annotator: match by term: Usher syndrome type 2C

NCBI chr 5:151,731,222...151,742,049
Ensembl chr 5:146,447,497...146,458,212

G

crystallin, gamma C

ClinVar Annotator: match by term: Usher syndrome type 2C

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 9:73,945,332...73,947,367
Ensembl chr 9:66,451,593...66,453,626

G

Fraser extracellular matrix complex subunit 1

ClinVar Annotator: match by term: Usher syndrome type 2C

PMID:21900877 PMID:25741868 PMID:28492532

NCBI chr14:13,095,370...13,506,895
Ensembl chr14:12,793,599...13,200,726

G

PDZ domain containing 7

ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:20440071 PMID:24033266 PMID:24498627 PMID:25741868 PMID:26416264 More...

NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:243,888,281...243,906,839

G

solute carrier family 4 member 7

OMIM:605472

NCBI chr15:13,015,854...13,095,485
Ensembl chr15:10,588,979...10,664,781

G

WD repeat domain 36

ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIC

PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More...

NCBI chr18:24,747,812...24,783,704
Ensembl chr18:24,473,663...24,508,092

Usher Syndrome, Type ID/F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin-related 23

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC

PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More...

NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,240,645...28,622,419

G

protocadherin related 15

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC

PMID:15537665 PMID:15660226 PMID:24033266

NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,963,565...15,494,719

Waardenburg syndrome type 2A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin receptor type B

ClinVar Annotator: match by term: Waardenburg syndrome type 2A

PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 More...

NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115

G

melanocyte inducing transcription factor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM | ClinVar Annotator: match by term: Waardenburg syndrome type 2A
OMIM:193510

CTD
OMIM
ClinVar
MouseDO

PMID:666627 PMID:2440678 PMID:7874167 PMID:8589691 PMID:8659547 More...

NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145

G

RNA polymerase II, I and III subunit F

ClinVar Annotator: match by term: Waardenburg syndrome type 2A

PMID:25741868 PMID:29407415 PMID:30311386 PMID:34599368

NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234

G

SRY-box transcription factor 10

ClinVar Annotator: match by term: Waardenburg syndrome type 2A

PMID:25741868 PMID:29407415 PMID:30311386 PMID:34599368

NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544

X-linked dyskeratosis congenita

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: DKC1-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked

PMID:768476 PMID:1361371 PMID:3009302 PMID:7607282 PMID:9042917 More...

NCBI chr X:157,751,651...157,757,796

G

regulator of telomere elongation helicase 1

ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked | ClinVar Annotator: match by term: Zinsser-Cole-Engman Syndrome

PMID:9536098 PMID:17576681 PMID:23959892 PMID:25741868 PMID:26847928 More...

NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348

Term paths to the root

Path 1
Term	Annotations
disease	19139
Developmental Disease	14666
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	13714
genetic disease	13379
polygenic disease	741
digenic disease +	741

paths to the root