digenic 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:	digenic disease	go back to main search page
Accession:	DOID:0080578	browse the term
Definition:	A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. (DO)

show annotations for term's descendants Sort by:
Rat (739) Mouse (746) Human (20636) Chinchilla (676) Bonobo (734) Dog (735) Squirrel (702) Pig (718) Green Monkey (722) Naked Mole-rat (676) All
Genes (739)

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 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668

G

forkhead box G1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607

G

kinesin family member 7

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:200990
DNA:missense,frameshift mutations:cds:
DNA:mutations:cds,splice junction:
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

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

RGD:11068757, RGD:11553832

NCBI chr 1:133,639,487...133,658,539
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 4:6,954,017...6,963,170
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 1:133,597,618...133,639,513
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 2:226,975,184...226,987,591
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 chr12:34,949,549...34,982,527
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

NCBI chr 3:168,427,247...168,465,349
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 2:112,815,654...112,816,041

G

telomerase reverse transcriptase

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

PMID:15814878 PMID:19561322 PMID:20301779 PMID:21436073 PMID:23901009 More...

NCBI chr 1:29,637,213...29,659,561
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 chr15:29,170,663...29,178,015
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 2:112,799,038...112,801,065
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 2:112,483,364...112,563,072
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 9:39,528,245...39,650,574
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 2:112,702,844...112,725,431
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 2:112,752,294...112,774,463
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 2:112,909,353...113,464,583
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 2:112,408,709...112,483,719
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 2:112,321,919...112,382,305
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 3:168,427,247...168,465,349
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 2:112,623,135...112,644,269
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 2:112,570,810...112,598,198
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 2:112,247,047...112,275,176
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

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

NCBI chr 2:112,815,654...112,816,041

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 1:29,637,213...29,659,561
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 chr15:29,191,039...29,206,000
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 chr15:29,170,663...29,178,015
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 1:29,329,981...29,357,285
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 1:29,225,312...29,255,294
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 1:29,667,545...29,683,530
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 1:30,030,561...30,039,549
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 1:29,766,070...29,816,401
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 1:29,965,481...29,968,896
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 1:29,968,833...29,977,423
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 1:29,442,898...29,470,839
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 1:29,472,692...29,554,246
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 1:29,607,288...29,621,925
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 1:29,586,191...29,604,964
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 1:29,709,443...29,750,413
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 1:29,124,633...29,167,912
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 1:29,637,213...29,659,561
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 1:29,257,111...29,281,134
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 1:29,357,093...29,402,078
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 1:29,296,334...29,327,227
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 chr15:29,191,039...29,206,000
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 chr15:29,170,663...29,178,015
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 3:168,427,247...168,465,349
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 chr19:38,999,130...39,021,152
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 chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461

G

agouti related neuropeptide

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

NCBI chr19:33,447,992...33,481,602
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 chr19:37,744,633...37,831,134
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 chr19:33,403,352...33,447,357
Ensembl chr19:33,403,355...33,447,450

G

ataxin 1 like

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

NCBI chr19:37,700,341...37,711,529
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 chr19:33,129,740...33,134,048
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 chr19:739,551...786,395
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 chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521

G

calbindin 2

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

NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438

G

carbonic anhydrase 7

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

NCBI chr19:429,063...438,478
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 chr19:33,571,255...33,586,783
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 chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751

G

cadherin 1

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

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cadherin 16

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

NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007

G

cadherin 3

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

NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084

G

cadherin 5

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

NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368

G

centromere protein T

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

NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142

G

carboxylesterase 2H

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

NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830

G

carboxylesterase 3a

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

NCBI chr19:32,992,386...33,000,562

G

carboxylesterase 4A

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

NCBI chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545

G

carbohydrate sulfotransferase 4

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

NCBI chr19:37,993,471...38,002,123
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 chr19:34,782,005...34,792,306
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 chr19:344,194...346,068
Ensembl chr19:344,203...346,068

G

chemokine-like factor

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

NCBI chr19:698,097...706,570
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 chr19:39,038,498...39,053,425
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 chr19:651,641...661,184
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 chr19:640,838...651,872
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 chr19:622,563...630,721
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 chr19:576,203...616,109
Ensembl chr19:576,203...616,109

G

cap methyltransferase 2

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

NCBI chr19:38,190,718...38,197,549
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 chr19:38,820,478...38,854,803
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 chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397

G

CCCTC-binding factor

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

NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123

G

chymotrypsin-like

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

NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626

G

cytochrome b5 type B

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

NCBI chr19:35,062,871...35,096,741
Ensembl chr19:35,062,813...35,098,249

G

DEAD-box helicase 19A

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

NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854

G

DEAD-box helicase 19B

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

NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259

G

DEAD-box helicase 28

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

NCBI chr19:33,909,799...33,911,729
Ensembl chr19:33,909,801...33,911,742

G

dihydroorotate dehydrogenase

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

NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654

G

DEAH-box helicase 38

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

NCBI chr19:37,512,893...37,530,135
Ensembl chr19:37,512,891...37,530,140

G

dipeptidase 2

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

NCBI chr19:33,883,557...33,896,487
Ensembl chr19:33,885,478...33,891,954

G

dipeptidase 3

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

NCBI chr19:33,868,229...33,876,609
Ensembl chr19:33,868,242...33,873,896

G

dihydrouridine synthase 2

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

NCBI chr19:33,906,517...33,954,922
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 chr19:531,783...554,670
Ensembl chr19:531,812...554,670

G

E2F transcription factor 4

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

NCBI chr19:33,174,396...33,181,806
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 chr19:33,774,062...33,786,054
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 chr19:33,181,952...33,186,399
Ensembl chr19:33,182,036...33,186,410

G

enkurin domain containing 1

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

NCBI chr19:33,592,074...33,596,552
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 chr19:34,034,559...34,041,726
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 chr19:33,166,836...33,174,371
Ensembl chr19:33,166,837...33,172,486

G

exosome component 6

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

NCBI chr19:39,022,171...39,023,585
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 chr19:33,142,705...33,147,266
Ensembl chr19:33,142,715...33,147,262

G

fucose kinase

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

NCBI chr19:38,849,130...38,874,497
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 chr19:33,206,492...33,225,448
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 chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004

G

hyaluronan synthase 3

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

NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592

G

haptoglobin

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

NCBI chr19:37,539,626...37,544,178
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 chr19:33,397,656...33,402,899
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 chr19:33,147,755...33,153,479
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 chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264

G

interleukin 34

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

NCBI chr19:38,714,990...38,782,749
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 chr19:37,648,840...37,671,019
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 chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006

G

lecithin cholesterol acyltransferase

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

NCBI chr19:33,834,748...33,838,214
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 chr19:33,181,713...33,203,583
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 chr19:33,292,074...33,342,426
Ensembl chr19:33,292,074...33,360,141

G

MARVEL domain containing 3

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

NCBI chr19:37,908,727...37,923,420
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 chr19:33,158,053...33,166,784
Ensembl chr19:33,158,056...33,166,445

G

microRNA 140

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

NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675

G

microRNA 328

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

NCBI chr19:33,184,766...33,184,849
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 chr19:38,692,793...38,714,575
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 chr19:446,015...472,145
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 chr19:35,199,737...35,286,675
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 chr19:33,960,643...34,035,150
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 chr19:34,962,557...34,964,700
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 chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815

G

nucleolar protein 3

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

NCBI chr19:33,154,061...33,158,250
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 chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

neuritin 1-like

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

NCBI chr19:33,786,419...33,787,879

G

nuclear transport factor 2

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

NCBI chr19:33,752,319...33,773,595
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 chr19:33,589,531...33,591,900
Ensembl chr19:33,589,542...33,591,900

G

peptide deformylase (mitochondrial)

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

NCBI chr19:34,949,408...34,951,621
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 chr19:386,408...394,068
Ensembl chr19:386,406...394,074

G

pyruvate dehydrogenase phosphatase regulatory subunit

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

NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688

G

phagophore assembly factor 1

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

NCBI chr19:33,101,453...33,138,920
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 chr19:37,835,125...37,901,804
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 chr19:37,585,564...37,650,083
Ensembl chr19:37,585,725...37,650,155

G

phospholipase A2, group XV

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

NCBI chr19:34,050,685...34,068,070
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 chr19:33,251,788...33,266,490
Ensembl chr19:33,249,706...33,266,357

G

protein arginine methyltransferase 7

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

NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577

G

protein serine kinase H1

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

NCBI chr19:33,794,919...33,827,040
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 chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626

G

RAN binding protein 10

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

NCBI chr19:33,656,046...33,716,864
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 chr19:33,477,750...33,506,424
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 chr19:354,184...357,424
Ensembl chr19:354,198...357,417

G

splicing factor 3b, subunit 3

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

NCBI chr19:38,782,749...38,820,271
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 chr19:33,838,418...33,860,369
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 chr19:34,073,472...34,100,268
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 chr19:34,101,978...34,110,666
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 chr19:33,225,481...33,246,913
Ensembl chr19:33,226,816...33,246,903

G

sphingomyelin phosphodiesterase 3

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

NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749

G

syntrophin, beta 2

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

NCBI chr19:34,831,657...34,922,325
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 chr19:38,888,851...38,939,874
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 chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639

G

tyrosine aminotransferase

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

NCBI chr19:37,947,153...37,957,717
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 chr19:473,720...528,069
Ensembl chr19:473,218...528,084

G

telomeric repeat binding factor 2

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

NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819

G

THAP domain containing 11

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

NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540

G

thymidine kinase 2

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

NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924

G

transmembrane p24 trafficking protein 6

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

NCBI chr19:34,966,813...34,972,900
Ensembl chr19:34,966,813...34,972,900

G

transmembrane protein 208

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

NCBI chr19:33,203,587...33,206,287
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 chr19:33,345,897...33,349,610
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 chr19:33,136,148...33,142,714
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 chr19:33,716,834...33,734,824
Ensembl chr19:33,716,785...33,734,824

G

thioredoxin-like 4B

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

NCBI chr19:37,530,157...37,539,827
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 chr19:34,790,962...34,820,558
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 chr19:38,590,569...38,691,911
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 chr19:34,934,999...34,948,888
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 chr19:35,346,826...35,471,251
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 chr19:33,350,533...33,375,717
Ensembl chr19:33,350,533...33,375,616

G

zinc finger protein 612

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

NCBI chr19:38,053,953...38,071,196
Ensembl chr19:38,053,967...38,067,455

G

zinc finger protein 821

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

NCBI chr19:37,679,937...37,698,831
Ensembl chr19:37,680,628...37,698,831

G

zinc finger protein 90

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

NCBI chr19:34,321,980...34,333,195
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 chr10:53,714,614...53,735,298
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 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423

G

NHP2 ribonucleoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr10:35,877,057...35,880,399
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 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942

G

phosphoribosylformylglycinamidine synthase

ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive

NCBI chr10:53,690,301...53,711,811
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 3:99,071,577...99,170,266
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 chr10:54,300,070...54,311,525
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 chr10:54,282,092...54,299,908
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 PMID:31681265

NCBI chr10:35,877,057...35,880,399
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 3:99,066,857...99,067,942
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 chr10:35,881,250...35,892,322
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 3:99,071,577...99,170,266
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 1:29,637,213...29,659,561
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

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

NCBI chr10:35,877,057...35,880,399
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

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

NCBI chr10:35,881,250...35,892,322
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 chr10:54,300,070...54,311,525
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 chr10:54,282,092...54,299,908
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 1:29,637,213...29,659,561
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 3:168,466,351...168,473,960
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 3:168,136,246...168,157,839
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 3:168,265,893...168,275,071
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 3:168,330,607...168,333,111
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 3:168,362,650...168,400,788
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 3:168,338,813...168,353,219
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 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

G

mediator complex subunit 12

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

PMID:20301719 PMID:25326637 PMID:25741868 PMID:26338144 PMID:28492532 More...

NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387

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 3:168,299,309...168,301,040
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 3:168,307,073...168,315,664
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 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348

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 3:168,318,511...168,324,915
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 3:168,416,810...168,424,946
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 1:29,637,213...29,659,561
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 chr10:1,410,636...1,548,573
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 chr19:33,586,739...33,589,481
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 2:191,309,909...191,318,399
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 chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997

G

EEF1A lysine methyltransferase 1

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

NCBI chr15:31,694,284...31,711,367
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:29572252 PMID:30820731 PMID:30871974 PMID:31980658

NCBI chr 2:39,647,393...39,686,229
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 chr15:31,181,360...31,206,820
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 chr15:31,260,390...31,278,222
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 5:139,649,227...139,654,970
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 5:139,675,776...139,679,551
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:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More...

NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582

G

intraflagellar transport 88

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

NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147

G

interleukin 17D

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

NCBI chr15:31,671,337...31,688,833

G

exportin 4

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

NCBI chr15:31,717,016...31,807,723
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
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
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
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
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 3:120,812,660...120,822,579
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 8:64,450,114...64,519,673
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

NCBI chr 9:113,275,267...113,314,842

G

thymidylate synthetase

ClinVar Annotator: match by term: Dyskeratosis congenita, digenic

PMID:25741868 PMID:35931051

NCBI chr 9:113,313,454...113,329,551
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:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115

G

acyl-CoA dehydrogenase, very long chain

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,732,875...54,738,102
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 chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472

G

arachidonate 12-lipoxygenase, 12S type

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,958,263...54,970,542
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 chr10:53,863,060...53,874,938
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 chr10:53,892,496...53,901,812
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 chr10:53,830,219...53,854,328
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:151,636,071...151,651,528
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 chr10:53,650,521...53,663,269
Ensembl chr10:53,650,553...53,663,913

G

asialoglycoprotein receptor 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631

G

asialoglycoprotein receptor 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617

G

ATPase Na+/K+ transporting subunit beta 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,318,698...54,324,933
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:151,216,483...151,289,069
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:152,079,954...152,087,034
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 chr10:53,744,290...53,750,831
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:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989

G

beta-1,4-galactosyltransferase 7

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573

G

BPTF associated chromatin complex component 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,951,991...54,954,756
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:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506

G

BCL6B, transcription repressor

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974

G

biglycan

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:151,197,296...151,209,458
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 chr10:53,760,504...53,762,358
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 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080

G

cyclin Q

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961

G

Cd68 molecule

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,381,814...54,383,693
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 chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047

G

cholinergic receptor nicotinic beta 1 subunit

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345

G

claudin 7

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171

G

C-type lectin domain containing 10A

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,876,244...54,880,439
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 chr20:149,337...164,375
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 chr18:125,308...132,163
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 chr10:54,022,523...54,047,793
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:143,531,907...143,533,201
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 chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298

G

CTD nuclear envelope phosphatase 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,704,367...54,713,781
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 chr10:54,113,428...54,117,744
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

G

discs large MAGUK scaffold protein 4

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,740,700...54,769,097
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 chr10:54,142,648...54,268,901
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:152,056,942...152,065,518
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:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821

G

dishevelled segment polarity protein 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,723,356...54,732,823
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 chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471

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eukaryotic translation initiation factor 4A1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858

G

eukaryotic translation initiation factor 5A

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656

G

elongator acetyltransferase complex subunit 5

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923

G

emerin

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807

G

enolase superfamily member 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:25741868 PMID:35931051

NCBI chr 9:113,275,267...113,314,842

G

coagulation factor VIII

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr18:140,848...172,330
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:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168

G

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:152,166,716...152,175,327
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:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362

G

F-box protein 39

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906

G

fibroblast growth factor 11

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062

G

filamin A

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052

G

FUN14 domain containing 2

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345

G

FMR1 autosomal homolog 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964

G

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:152,201,081...152,220,863
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 chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765

G

GAR1 ribonucleoprotein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:218,375,231...218,382,509
Ensembl chr 2:218,375,353...218,382,524

G

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:152,087,611...152,094,274
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 chr15:29,165,421...29,175,933
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 chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650

G

guanylate cyclase 2E

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067

G

H2A.B variant histone 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983

G

HAUS augmin-like complex, subunit 7

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577

G

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:151,687,779...151,712,688
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 chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097

G

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:151,515,244...151,524,175
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:152,216,485...152,241,476
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:151,768,621...151,778,521
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 chr10:54,047,830...54,056,401
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 chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760

G

lysine demethylase 6B

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794

G

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:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857

G

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:152,138,209...152,139,632
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:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689

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microRNA 195

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924

G

mannose-P-dolichol utilization defect 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447

G

MAGUK p55 scaffold protein 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

G

mature T-cell proliferation 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr18:126,189...130,123

G

Nedd4 binding protein 3

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:35,898,031...35,906,704
Ensembl chr10:35,899,096...35,907,001

G

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:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252

G

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 chr10:54,117,754...54,118,913
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 chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258

G

NHP2 ribonucleoprotein

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545

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neuroligin 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,544,461...54,557,854
Ensembl chr10:54,544,588...54,558,434

G

NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942

G

nucleophosmin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
Ensembl chr X:17,739,941...17,751,645

G

NAD(P) dependent steroid dehydrogenase-like

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142

G

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 chr10:53,628,592...53,634,525
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:151,905,056...151,925,419
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 chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560

G

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:151,530,390...151,560,779
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 chr10:53,800,126...53,814,963
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 chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420

G

PHD finger protein 23

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782

G

phospholipid scramblase 3

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709

G

plexin A3

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603

G

plexin B3

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr X:151,493,832...151,508,688
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:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446

G

PNMA family member 3

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839

G

PNMA family member 5

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789

G

PNMA family member 6E

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:18177777 PMID:28492532

NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037

G

RNA polymerase II subunit A

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455

G

protection of telomeres 1

ClinVar Annotator: match by term: Dyskeratosis congenita

PMID:25741868 PMID:28492532 PMID:30523342

NCBI chr 4:54,205,330...54,263,137
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 chr10:35,271,959...35,274,434
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 chr10:53,677,467...53,678,880
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:151,661,463...151,670,538
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 chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265

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ribonuclease K

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601

G

ring finger protein 227

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr10:54,061,054...54,063,015
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:152,054,562...152,056,769
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 chr10:53,610,836...53,613,966
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 3:168,427,247...168,465,349
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 chr10:54,340,756...54,343,507
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 chr10:54,070,959...54,071,098
Ensembl chr10:54,070,959...54,071,098

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SUMO specific peptidase 3

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593

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sex hormone binding globulin

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057

G

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:152,154,757...152,158,563
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 chr10:56,866,249...56,891,189
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 chr10:54,929,129...54,933,021
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 chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788

G

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 chr10:53,672,851...53,677,501
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 chr10:54,666,015...54,671,581
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 chr10:54,478,796...54,481,543
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:151,384,675...151,393,979
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 chr10:53,774,811...53,774,946
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 chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591

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spermatid maturation 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131

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SPEM family member 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058

G

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:151,510,452...151,515,208
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:151,524,191...151,528,218
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:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001

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tektin 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:56,952,164...56,980,572
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 2:112,815,654...112,816,041

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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 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

testis expressed 28

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567

G

transglutaminase 1

ClinVar Annotator: match by term: Dyskeratosis congenita

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

NCBI chr15:29,191,039...29,206,000
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 chr15:29,170,663...29,178,015
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:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208

G

transmembrane protein 102

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,523,901...54,525,997
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 chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676

G

transmembrane protein 256

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,559,030...54,560,146
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 chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447

G

transmembrane protein 95

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790

G

TNF superfamily member 12

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213

G

TNF superfamily member 13

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042

G

tyrosine kinase, non-receptor, 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,571,396...54,580,547
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 chr10:54,300,070...54,311,525
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 chr10:54,045,598...54,047,184
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:151,151,862...151,153,470
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 9:113,313,454...113,329,551
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:152,151,242...152,154,094
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 chr10:53,793,581...53,797,815
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 chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929

G

XIAP associated factor 1

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770

G

Y box binding protein 2

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371

G

zinc finger and BTB domain containing 4

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492

G

zinc finger CCHC-type containing 8

ClinVar Annotator: match by term: Dyskeratosis congenita

NCBI chr12:32,869,170...32,892,707
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:150,831,869...150,877,652
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:151,116,794...151,142,451
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 9:111,160,708...111,220,463
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 9:111,083,378...111,158,193
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 9:110,891,970...110,899,655
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 9:110,873,855...110,888,187

G

myomesin 1

ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2

PMID:23143600 PMID:25820463 PMID:28492532

NCBI chr 9:110,916,156...111,039,344
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 9:111,243,445...111,387,272
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 9:110,748,094...110,757,714
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 2:194,231,397...194,322,489
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 3:142,130,588...142,169,128
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 chr11:41,936,585...41,946,568
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 9:76,668,554...76,677,263
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 chr11:41,936,585...41,946,568
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 1:167,508,121...167,511,530
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 chr17:9,218,876...9,233,852
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 3:8,044,294...8,050,034
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 2:191,309,909...191,318,399
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...

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 4:54,205,330...54,263,137
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 3:168,427,247...168,465,349
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 1:29,637,213...29,659,561
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 chr15:29,170,663...29,178,015
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 chr10:39,319,062...39,357,374
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 chr10:39,278,002...39,306,082
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:16199547 PMID:17555458 PMID:18484095 More...

NCBI chr 1:29,586,191...29,604,964
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 8:123,282,325...123,322,609
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 1:133,639,487...133,658,539
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: Joubert syndrome 15

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

NCBI chr 4:59,271,218...59,312,343
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

BRCA1-associated ATM activator 1

ClinVar Annotator: match by term: Joubert syndrome 9

PMID:16385454 PMID:20301500 PMID:22279524 PMID:23035047 PMID:27480663 More...

NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248

G

caveolin 3

ClinVar Annotator: match by term: Joubert syndrome 9

NCBI chr 4:145,582,168...145,598,142
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:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 More...

RGD:11535976, RGD:11062645, RGD:11062645

NCBI chr14:67,349,004...67,435,883
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 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668

G

oxytocin receptor

ClinVar Annotator: match by term: Joubert syndrome 9

NCBI chr 4:145,598,549...145,614,674
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 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403

G

SMAD family member 6

ClinVar Annotator: match by term: Joubert syndrome 9

NCBI chr 8:64,450,114...64,519,673
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 4:30,056,738...30,192,716
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 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Long QT syndrome 1

PMID:25741868 PMID:28492532

NCBI chr 4:68,375,484...68,510,652
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 4:151,764,138...152,379,454
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 6:7,091,624...7,104,284
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 1:77,590,668...77,597,776
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 4:145,582,168...145,598,142
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 4:30,036,956...30,055,410
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 1:77,546,900...77,558,631
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 chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

fukutin related protein

ClinVar Annotator: match by term: Long QT syndrome 1

NCBI chr 1:77,479,641...77,486,954
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 1:77,564,512...77,568,371
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 chr11:31,580,951...31,594,116
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 chr11:31,517,176...31,530,026
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 4:10,826,834...10,859,009
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 chr10:96,060,834...96,071,397
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 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518

G

potassium voltage-gated channel subfamily Q member 1

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
ClinVar
OMIM

PMID:234416 PMID:234478 PMID:234515 PMID:280141 PMID:737968 More...

NCBI chr 1:198,291,711...198,624,683
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