Infant, Newborn, Diseases - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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:	Infant, Newborn, Diseases	go back to main search page
Accession:	DOID:9003548	browse the term
Definition:	Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.
Synonyms:	exact_synonym:	Neonatal Disease; Neonatal Diseases
	broad_synonym:	perinatal disease
	primary_id:	MESH:D007232
	alt_id:	RDO:0004815
	xref:	EFO:0010238

show annotations for term's descendants Sort by:
Rat (1291) Mouse (1290) Human (35317) Chinchilla (1145) Bonobo (1243) Dog (1222) Squirrel (1163) Pig (1222) Green Monkey (1216) Naked Mole-rat (1139) All
Genes (1277) Strains (14)

Infant, Newborn, Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FKBP prolyl isomerase 5

CTD Direct Evidence: marker/mechanism

NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

adenosine deaminase deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA thioesterase 8

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,531,192...153,542,851
Ensembl chr 3:153,531,193...153,542,851

G

adenosine deaminase

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM:102700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

OMIM
ClinVar
MouseDO
CTD

PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More...

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

cellular communication network factor 5

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,491,247...152,502,639
Ensembl chr 3:152,491,220...152,502,636

G

Cd247 molecule

ClinVar Annotator: match by term: Bubble boy disease

PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More...

NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

PMID:25741868 PMID:28492532

NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117

NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147

G

CD40 molecule

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

cadherin 22

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,845,563...153,970,630
Ensembl chr 3:153,845,787...153,970,588

G

cathepsin A

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215

G

dysbindin domain containing 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,216,300...153,220,651
Ensembl chr 3:153,191,090...153,220,651

G

deoxynucleotidyltransferase, terminal, interacting protein 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759

G

engulfment and cell motility 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,023,661...154,061,259
Ensembl chr 3:154,023,661...154,061,185

G

epididymal peptidase inhibitor

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,312,396...153,319,310
Ensembl chr 3:153,312,396...153,319,310

G

fat storage-inducing transmembrane protein 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858

G

ganglioside-induced differentiation-associated protein 1-like 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711

G

gametocyte specific factor 1-like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:151,736,020...151,738,715
Ensembl chr 3:151,735,997...151,736,863

G

hepatocyte nuclear factor 4, alpha

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320

G

intraflagellar transport 52

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980

G

Janus kinase 3

ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency

PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More...

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

junctophilin 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904

G

potassium two pore domain channel subfamily K member 15

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,515,237...152,521,455
Ensembl chr 3:152,515,237...152,521,455

G

potassium voltage-gated channel, modifier subfamily S, member 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,835,642...152,843,032
Ensembl chr 3:152,835,644...152,842,960

G

matrilin 4

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865

G

menin 1

ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency

PMID:20566584 PMID:22187299 PMID:24033266 PMID:25326637 PMID:25637381 More...

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

matrix metallopeptidase 9

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

MYB proto-oncogene like 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708

G

myosin heavy chain 7

ClinVar Annotator: match by term: Bubble boy disease

PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More...

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

nuclear receptor coactivator 5

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,736,420...153,769,838
Ensembl chr 3:153,736,420...153,769,553

G

neuralized E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,566,659...153,569,380
Ensembl chr 3:153,566,660...153,569,380

G

osteoclast stimulatory transmembrane protein

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,131,113...154,141,611
Ensembl chr 3:154,132,328...154,136,991

G

oxidative stress responsive serine-rich 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,066,975...152,085,180
Ensembl chr 3:152,066,975...152,085,149

G

poly(A) binding protein, cytoplasmic 1-like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,692,825...152,725,997
Ensembl chr 3:152,693,700...152,725,997

G

phosphorylated CTD interacting factor 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,614,147...153,627,079
Ensembl chr 3:153,614,147...153,627,079

G

phosphatidylinositol glycan anchor biosynthesis, class T

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887

G

cAMP-dependent protein kinase inhibitor gamma

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,330,477...152,398,085
Ensembl chr 3:152,366,041...152,398,082

G

phospholipid transfer protein

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647

G

R3H domain containing-like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,171,382...152,182,151
Ensembl chr 3:152,171,382...152,182,151

G

recombination activating 1

ClinVar Annotator: match by term: Bubble boy disease
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 More...

NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291

G

recombination activating 2

ClinVar Annotator: match by term: Bubble boy disease

PMID:15025726 PMID:24174341 PMID:25741868 PMID:26457731 PMID:28492532 More...

NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066

G

recombination signal binding protein for immunoglobulin kappa J region-like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513

G

regulating synaptic membrane exocytosis 4

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,520,982...152,585,070
Ensembl chr 3:152,524,095...152,584,780

G

syndecan 4

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580

G

semenogelin 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,910,033...152,912,882
Ensembl chr 3:152,910,034...152,912,882

G

serine incorporator 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,301,882...152,321,327
Ensembl chr 3:152,301,772...152,321,808

G

solute carrier family 12 member 5

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,696,517...153,735,801
Ensembl chr 3:153,696,517...153,735,765

G

solute carrier family 13 member 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,141,878...154,204,604
Ensembl chr 3:154,141,872...154,204,606

G

solute carrier family 2 member 10

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690

G

solute carrier family 35 member C2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,012,262...154,023,549
Ensembl chr 3:154,012,416...154,023,488

G

secretory leukocyte peptidase inhibitor

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453

G

sorting nexin family member 21

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,522,474...153,532,235
Ensembl chr 3:153,522,486...153,532,221

G

spermatogenesis associated 25

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,562,479...153,566,508
Ensembl chr 3:153,562,528...153,564,480

G

serine peptidase inhibitor, Kunitz type, 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,293,969...153,296,717
Ensembl chr 3:153,294,010...153,296,779

G

serine peptidase inhibitor, Kunitz type 4

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,430,633...153,432,821
Ensembl chr 3:153,430,633...153,433,439

G

serine/threonine kinase 4

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744

G

Sys1 golgi trafficking protein

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,191,061...153,195,463
Ensembl chr 3:153,191,090...153,220,651

G

troponin C2, fast skeletal type

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029

G

translocase of outer mitochondrial membrane 34

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,729,345...152,746,295
Ensembl chr 3:152,729,349...152,746,373

G

TOX high mobility group box family member 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:151,853,294...151,980,086
Ensembl chr 3:151,853,294...151,980,749

G

Tp53 tumor protein p53 regulating kinase A

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328

G

TP53 target 5

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,200,792...153,204,337
Ensembl chr 3:153,200,789...153,204,349

G

alpha tocopherol transfer protein like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,278,246...152,296,550
Ensembl chr 3:152,278,303...152,296,513

G

ubiquitin-conjugating enzyme E2C

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,506,636...153,509,036
Ensembl chr 3:153,506,636...153,513,339

G

WAP four-disulfide core domain 10A

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,390,067...153,391,420
Ensembl chr 3:153,390,067...153,391,420

G

WAP four-disulfide core domain 11

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,397,585...153,406,407

G

WAP four-disulfide core domain 12

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,861,461...152,862,784
Ensembl chr 3:152,862,341...152,862,690

G

WAP four-disulfide core domain 13

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,419,553...153,421,306
Ensembl chr 3:153,419,648...153,421,221

G

WAP four-disulfide core domain 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807

G

WAP four-disulfide core domain 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,464,862...153,478,952
Ensembl chr 3:153,464,862...153,478,952

G

WAP four-disulfide core domain 5

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,849,025...152,854,868
Ensembl chr 3:152,849,025...152,854,904

G

WAP four-disulfide core domain 6A

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,305,336...153,309,144
Ensembl chr 3:153,305,336...153,309,144

G

WAP four-disulfide core domain 8

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,323,503...153,339,849
Ensembl chr 3:153,324,413...153,339,842

G

WAP four-disulfide core domain 9

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,380,554...153,389,055
Ensembl chr 3:153,380,649...153,391,261

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105

G

zinc finger protein 334

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,112,537...154,125,087
Ensembl chr 3:154,113,561...154,125,057

G

zinc finger protein 335

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054

G

zinc finger, SWIM-type containing 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,559,104...153,562,821
Ensembl chr 3:153,558,970...153,562,915

G

zinc finger, SWIM-type containing 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,542,741...153,558,022
Ensembl chr 3:153,542,743...153,558,018

Annular Epidermolytic Ichthyosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 1

ClinVar Annotator: match by term: Annular epidermolytic ichthyosis

PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 More...

NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844

G

keratin 10

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Annular epidermolytic ichthyosis

PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 More...

NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701

Annular Epidermolytic Ichthyosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 1

ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic 1

NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844

G

keratin 10

ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic 1

PMID:9856845 PMID:28492532

NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701

Annular Epidermolytic Ichthyosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 1

ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2

PMID:10053007 PMID:15214894 PMID:16227096 PMID:22250628 PMID:25741868 More...

NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844

asphyxia neonatorum

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Asphyxia neonatorum

PMID:8364588 PMID:25741868

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

ERCC excision repair 2, TFIIH core complex helicase subunit

mRNA:increased expression:brain

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

ERCC excision repair 3, TFIIH core complex helicase subunit

mRNA:decreased expression:brain

RGD

NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329

G

glutathione S-transferase mu 1

severity

DNA:deletion, haplotype:: (human)

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

HtrA serine peptidase 2

treatment

protein:increased expression:kidney:

RGD

NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095

G

microtubule-associated protein 2

RGD

NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809

G

protein disulfide isomerase family A, member 3

protein:increased expression:hippocampus:

RGD

NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236

G

presenilin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650

G

presenilin 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

S100 calcium binding protein B

protein:increased expression:urine

RGD

NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

X-ray repair cross complementing 1

mRNA:increased expression:brain

RGD

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

atrophoderma vermiculata

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LDL receptor related protein 1

ClinVar Annotator: match by term: Atrophoderma vermiculata

NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910

autosomal dominant keratitis-ichthyosis-deafness syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein, beta 2

p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
OMIM:148210
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More...

RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811

NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177

autosomal recessive congenital ichthyosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 12

ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis

PMID:9536098 PMID:15756637 PMID:17508018 PMID:17576681 PMID:17684380 More...

NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049

G

arachidonate 12-lipoxygenase, 12R type

ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis

PMID:9536098 PMID:16116617 PMID:16199547 PMID:17139268 PMID:17576681 More...

NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938

G

arachidonate epidermal lipoxygenase 3

ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis

PMID:11398099 PMID:11773004 PMID:16116617 PMID:19131948 PMID:19890349 More...

NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328

G

ceramide synthase 3

ClinVar Annotator: match by term: Lamellar ichthyosis

PMID:28875980 PMID:30578701 PMID:33492757

NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902

G

cytochrome P450, family 4, subfamily f, polypeptide 39

ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis

PMID:16436457 PMID:23621129 PMID:25741868 PMID:25998749 PMID:26056268 More...

NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181

G

EBP, cholestenol delta-isomerase

RGD

NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826

G

ERCC excision repair 2, TFIIH core complex helicase subunit

trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

NIPA-like domain containing 4

ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis

PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 More...

NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640

G

NAD(P) dependent steroid dehydrogenase-like

RGD

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

G

patatin-like phospholipase domain containing 1

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis

PMID:3757302 PMID:22246504 PMID:24344921 PMID:25741868 PMID:26691440 More...

NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375

G

short chain dehydrogenase/reductase family 9C, member 7

ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis

PMID:25741868 PMID:28369735 PMID:28492532 PMID:28906551 PMID:30578701 More...

NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480

G

solute carrier family 27 member 4

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis

PMID:19631310 PMID:21450060 PMID:22927265 PMID:25741868 PMID:26783444 More...

NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943

G

transglutaminase 1

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis

PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 More...

NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523

G

UDP-glucose ceramide glucosyltransferase

ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma

NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393

autosomal recessive congenital ichthyosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 12

susceptibility

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16675967 PMID:12915478

NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049

G

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

susceptibility

RGD

NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447

G

arachidonate 12-lipoxygenase, 12R type

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938

G

arachidonate epidermal lipoxygenase 3

susceptibility

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21739938 PMID:11773004

NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328

G

sulfotransferase family 2B member 1

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1

NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295

G

transglutaminase 1

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | ClinVar Annotator: match by term: Lamellar ichthyosis, type 1
OMIM:242300
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 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: Autosomal recessive congenital ichthyosis 1

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

NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984

autosomal recessive congenital ichthyosis 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10

PMID:9425895 PMID:19453707 PMID:23708187 PMID:24375629 PMID:25741868 More...

NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

G

patatin-like phospholipase domain containing 1

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: PNPLA1-related condition
OMIM:615024

OMIM
ClinVar
MouseDO

PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 More...

NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375

autosomal recessive congenital ichthyosis 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ST14 transmembrane serine protease matriptase

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9450882 PMID:12207612 PMID:17273967 PMID:18263585 PMID:18445049 More...

NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517

Autosomal Recessive Congenital Ichthyosis 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caspase 14

ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12

PMID:25741868 PMID:27494380 PMID:28492532

NCBI chr 7:10,929,759...10,932,591
Ensembl chr 7:10,926,725...10,933,405

autosomal recessive congenital ichthyosis 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

short chain dehydrogenase/reductase family 9C, member 7

ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 | ClinVar Annotator: match by term: SDR9C7-related condition
OMIM:617574

OMIM
ClinVar
MouseDO

PMID:25741868 PMID:28173123 PMID:28369735 PMID:28492532 PMID:28906551 More...

NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480

autosomal recessive congenital ichthyosis 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sulfotransferase family 2B member 1

ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14

PMID:17496163 PMID:25741868 PMID:28492532 PMID:28575648

NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295

autosomal recessive congenital ichthyosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arachidonate 12-lipoxygenase, 12R type

ClinVar Annotator: match by term: ALOX12B-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:11773004 PMID:16116617 PMID:16199547 PMID:17139268 More...

NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938

G

arachidonate epidermal lipoxygenase 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2

PMID:16116617 PMID:19131948 PMID:25741868 PMID:26370990 PMID:26762237 More...

NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328

G

sulfotransferase family 2B member 1

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2

PMID:17496163 PMID:28575648

NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295

autosomal recessive congenital ichthyosis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arachidonate epidermal lipoxygenase 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3

OMIM
CTD
ClinVar

PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 More...

NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328

G

guanylate cyclase 2E

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3

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

autosomal recessive congenital ichthyosis 4A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 12

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16199547 More...

NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049

autosomal recessive congenital ichthyosis 4B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 12

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B | ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 4B (harlequin)
OMIM:242500
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:10094194 PMID:12915478 PMID:15756637 PMID:16902423 PMID:17684380 More...

NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049

G

cystatin E/M

OMIM:242500

NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030

G

phosphatidylinositol glycan anchor biosynthesis, class A

OMIM:242500

NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804

G

serine protease 8

OMIM:242500

NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815

autosomal recessive congenital ichthyosis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 4, subfamily f, polypeptide 39

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: Ichthyosis congenita III | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:16199547 PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 More...

NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181

autosomal recessive congenital ichthyosis 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NIPA-like domain containing 4

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6

PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 More...

NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640

autosomal recessive congenital ichthyosis 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lipase, family member N

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8

PMID:25741868 PMID:28492532

NCBI chr 1:231,584,950...231,603,456
Ensembl chr 1:231,584,956...231,603,468

autosomal recessive congenital ichthyosis 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ceramide synthase 3

ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9

PMID:23549421 PMID:23754960 PMID:25741868 PMID:28492532

NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902

autosomal recessive congenital nystagmus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

roundabout guidance receptor 1

ClinVar Annotator: match by term: Nystagmus, congenital motor, autosomal recessive | ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive

PMID:25741868 PMID:28492532 PMID:35348658

NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203

autosomal recessive distal hereditary motor neuronopathy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

immunoglobulin mu DNA binding protein 2

DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM:604320
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More...

NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514

Autosomal Recessive Infantile Epilepsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tyrosine kinase, non-receptor, 2

ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy

PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532

NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009

Axenfeld-Rieger syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-kinase 1

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157

G

ankyrin 2

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923

G

adaptor-related protein complex 1 associated regulatory protein

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013

G

family with sequence similarity 241 member A

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242

G

high mobility group nucleosomal binding domain 2

OMIM:180500

NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
Ensembl chr16:146,192,126...146,195,521

G

La ribonucleoprotein 7, transcriptional regulator

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865

G

neurogenin 2

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154

G

paired-like homeodomain 2

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500

OMIM
ClinVar
MouseDO

PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 More...

NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293

G

PR/SET domain 5

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301

G

TRAF-interacting protein with forkhead-associated domain

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841

G

zinc finger, GRF-type containing 1

ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1

NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750

Benign Familial Neonatal Seizures, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1

NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918

G

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia

PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 More...

NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

Benign Familial Neonatal Seizures, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2

PMID:12742592 PMID:15249611 PMID:17129708 PMID:18625963 PMID:19464834 More...

NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

G

potassium voltage-gated channel subfamily Q member 3

ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2
DNA:missense mutation:cds:p.W309R (human)
DNA:missense mutation:cds:p.G263V (human)

OMIM
ClinVar
RGD

PMID:1859177 PMID:9425900 PMID:9536098 PMID:10852552 PMID:14534157 More...

RGD:9686433, RGD:9686418

NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653

Benign Neonatal Epilepsy, 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily Q member 2

ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1

PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 More...

NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

benign neonatal seizures

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldehyde dehydrogenase 7 family, member A1

ClinVar Annotator: match by term: neonatal seizures

PMID:16199547 PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 More...

NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193

G

ATPase Na+/K+ transporting subunit alpha 2

RGD

NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544

G

cellular communication network factor 4

ClinVar Annotator: match by term: Benign neonatal seizures

PMID:28492532 PMID:29383681 PMID:29852413

NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248

G

diaphanous-related formin 1

ClinVar Annotator: match by term: Neonatal seizure

NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172

G

dynein axonemal assembly factor 11

ClinVar Annotator: match by term: Benign neonatal seizures

PMID:28492532 PMID:29383681 PMID:29852413

NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837

G

potassium voltage-gated channel subfamily Q member 2

CTD Direct Evidence: marker/mechanism
OMIM:121200 | OMIM:121201 | OMIM:269720
ClinVar Annotator: match by term: Benign neonatal seizures

CTD
MouseDO
ClinVar

PMID:18625963 PMID:19380078 PMID:19464834 PMID:26910900 PMID:28492532

NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071

G

potassium voltage-gated channel subfamily Q member 3

OMIM:121200 | OMIM:121201 | OMIM:269720
ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures

MouseDO
ClinVar

PMID:9425900 PMID:9536098 PMID:14534157 PMID:16199547 PMID:16235065 More...

NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653

G

N-myc downstream regulated 1

ClinVar Annotator: match by term: Benign neonatal seizures

PMID:28492532 PMID:29383681 PMID:29852413

NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880

G

PHD finger protein 20-like 1

ClinVar Annotator: match by term: Benign neonatal seizures

PMID:28492532 PMID:29383681 PMID:29852413

NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: neonatal seizures

PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 More...

NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Benign Neonatal Epilepsy

PMID:20371507 PMID:25741868 PMID:27779742 PMID:28379373 PMID:28492532 More...

NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214

G

src-like adaptor

ClinVar Annotator: match by term: Benign neonatal seizures

PMID:28492532 PMID:29383681 PMID:29852413

NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648

G

thyroglobulin

ClinVar Annotator: match by term: Benign neonatal seizures

PMID:28492532 PMID:29383681 PMID:29852413

NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210

G

transmembrane protein 71

ClinVar Annotator: match by term: Benign neonatal seizures

PMID:28492532 PMID:29383681 PMID:29852413

NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858

Birth Injuries

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 5

mRNA:increased expression:multiple organs (rat)

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

Brain-Lung-Thyroid Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 4, N-acyl phospholipase B

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

NCBI chr15:27,697,384...27,716,013
Ensembl chr15:27,704,113...27,716,966

G

apoptotic chromatin condensation inducer 1

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

NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001

G

adenylate cyclase 4

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

NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108

G

ajuba LIM protein

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

NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021

G

A-kinase anchoring protein 6

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

NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738

G

angiogenin

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

NCBI chr15:24,312,711...24,323,361

G

adaptor related protein complex 1 subunit gamma 2

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

NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004

G

adaptor related protein complex 4 subunit sigma 1

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

NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496

G

ARF GTPase 6

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

NCBI chr 6:87,853,742...87,854,890
Ensembl chr 6:87,840,142...87,874,114

G

Rho GTPase activating protein 5

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

NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660

G

Rho guanine nucleotide exchange factor 40

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

NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510

G

bromodomain adjacent to zinc finger domain, 1A

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

NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459

G

Bcl2-like 2

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

NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624

G

BRMS1 like transcriptional repressor

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

NCBI chr 6:73,266,673...73,300,630
Ensembl chr 6:73,266,691...73,300,631

G

similar to human chromosome 14 open reading frame 119

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

NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180

G

similar to human chromosome 14 open reading frame 93

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

NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274

G

similar to human chromosome 14 open reading frame 28

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

NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558

G

capping protein regulator and myosin 1 linker 3

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

NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225

G

cerebellin 3 precursor

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

NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612

G

cadherin 24

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

NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340

G

CCAAT/enhancer binding protein epsilon

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

NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814

G

cofilin 2

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

NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674

G

chromodomain helicase DNA binding protein 8

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

NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285

G

cell death-inducing DFFA-like effector b

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

NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605

G

C-type lectin domain containing 14A

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

NCBI chr 6:75,881,470...75,884,612
Ensembl chr 6:75,881,473...75,884,612

G

chymase 1

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

NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233

G

CKLF-like MARVEL transmembrane domain containing 5

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

NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287

G

cochlin

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

NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109

G

copine 6

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

NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044

G

cathepsin G

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

NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353

G

defender against cell death 1

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

NCBI chr15:27,677,286...27,697,120
Ensembl chr15:27,677,268...27,697,347

G

DDB1 and CUL4 associated factor 11

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

NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669

G

dehydrogenase/reductase 1

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

NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838

G

dehydrogenase/reductase 2

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

NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644

G

dehydrogenase/reductase 4

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

NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127

G

dynein, axonemal, assembly factor 2

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

NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199

G

D-aminoacyl-tRNA deacylase 2

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

NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427

G

E2F-associated phosphoprotein

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

NCBI chr 6:72,166,486...72,194,357
Ensembl chr 6:72,170,301...72,193,734

G

epididymal protein 3B

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

NCBI chr15:24,343,992...24,346,759
Ensembl chr15:24,345,573...24,346,025

G

embryonal Fyn-associated substrate

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

NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902

G

egl-9 family hypoxia-inducible factor 3

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

NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766

G

ER membrane protein complex subunit 9

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

NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098

G

family with sequence similarity 177, member A1

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

NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553

G

FA complementation group M

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

NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028

G

F-box protein 33

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

NCBI chr 6:76,900,619...76,934,232
Ensembl chr 6:76,900,631...76,932,669

G

fat storage-inducing transmembrane protein 1

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

NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015

G

FKBP prolyl isomerase 3

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

NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011

G

forkhead box A1

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

NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188

G

forkhead box G1

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

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

G

fibrous sheath CABYR binding protein

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

NCBI chr 6:82,527,849...82,530,641

G

G2/M-phase specific E3 ubiquitin protein ligase

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

NCBI chr 6:68,763,847...68,795,305
Ensembl chr 6:68,764,185...68,793,924

G

gem (nuclear organelle) associated protein 2

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

NCBI chr 6:76,706,424...76,721,154
Ensembl chr 6:76,707,523...76,721,153

G

guanosine monophosphate reductase 2

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

NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935

G

G protein-coupled receptor 33, pseudogene 1

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

NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440

G

granzyme B

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

NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814

G

granzyme F

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

NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649

G

HAUS augmin-like complex, subunit 4

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

NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938

G

HEAT repeat containing 5A

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

NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773

G

HECT domain E3 ubiquitin protein ligase 1

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

NCBI chr 6:69,181,429...69,268,045
Ensembl chr 6:69,181,436...69,268,053

G

heterogeneous nuclear ribonucleoprotein C

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

NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183

G

homeobox and leucine zipper encoding

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

NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745

G

interleukin 25

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

NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893

G

INSM transcriptional repressor 2

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

NCBI chr 6:72,973,861...72,976,453

G

importin 4

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

NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285

G

interferon regulatory factor 9

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

NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236

G

junctophilin 4

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

NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573

G

KH and NYN domain containing

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

NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967

G

kelch domain containing 1

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

NCBI chr 6:87,670,182...87,765,431
Ensembl chr 6:87,712,772...87,765,424

G

kelch domain containing 2

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

NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187

G

kelch-like family member 28

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

NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164

G

L-2-hydroxyglutarate dehydrogenase

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

NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578

G

epididymal secretory protein E3-beta-like

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

NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623

G

leucine rich repeat and fibronectin type III domain containing 5

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

NCBI chr 6:79,466,403...79,822,821
Ensembl chr 6:79,467,961...79,822,815

G

LDL receptor related protein 10

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

NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505

G

leucine rich repeat protein 1

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

NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894

G

leukotriene B4 receptor

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

NCBI chr15:29,263,199...29,265,716

G

leukotriene B4 receptor 2

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

NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316

G

MAP3K12 binding inhibitory protein 1

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

NCBI chr 6:73,808,133...73,825,394
Ensembl chr 6:73,808,133...73,825,374

G

MAM domain containing glycosylphosphatidylinositol anchor 2

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

NCBI chr 6:84,746,422...85,608,640
Ensembl chr 6:84,761,941...85,608,126

G

magnesium-dependent phosphatase 1

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

NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905

G

methyltransferase like 17

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

NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

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

NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041

G

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

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

NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177

G

MIA SH3 domain ER export factor 2

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

NCBI chr 6:76,787,508...76,885,246
Ensembl chr 6:76,787,508...76,885,211

G

mirror-image polydactyly 1

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

NCBI chr 6:74,755,293...75,090,403
Ensembl chr 6:74,755,395...75,086,811

G

microRNA 208a

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

NCBI chr15:28,425,570...28,425,652

G

microRNA 208b

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

NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749

G

MIS18 binding protein 1

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

NCBI chr 6:83,182,497...83,231,978
Ensembl chr 6:83,182,499...83,231,383

G

matrix metallopeptidase 14

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

NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864

G

mitochondrial ribosomal protein L52

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

NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799

G

myosin heavy chain 6

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

NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720

G

myosin heavy chain 7

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

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

NDRG family member 2

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

NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626

G

NEDD8 ubiquitin like modifier

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

NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160

G

nuclear export mediator factor

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

NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841

G

nuclear factor of activated T-cells 4

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

NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610

G

NFKB inhibitor alpha

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

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

neuroguidin

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

NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654

G

NK2 homeobox 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)

OMIM
CTD
ClinVar
RGD

PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More...

RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768

NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791

G

NK2 homeobox 8

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

NCBI chr 6:74,086,274...74,087,977
Ensembl chr 6:74,086,274...74,087,977

G

NOP9 nucleolar protein

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

NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220

G

NOVA alternative splicing regulator 1

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

NCBI chr 6:63,780,105...63,905,567
Ensembl chr 6:63,783,489...63,906,289

G

neuronal PAS domain protein 3

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

NCBI chr 6:70,702,773...71,527,928
Ensembl chr 6:70,703,170...71,524,884

G

neural retina leucine zipper

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

NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832

G

NUBP iron-sulfur cluster assembly factor like

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

NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253

G

NYN domain and retroviral integrase containing

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

NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215

G

olfactory receptor family 10 subfamily G member 1B

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

NCBI chr15:25,127,833...25,128,789
Ensembl chr15:25,127,140...25,135,188

G

olfactory receptor family 10 subfamily G member 3

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

NCBI chr15:25,098,674...25,099,615
Ensembl chr15:25,098,674...25,099,615

G

olfactory receptor family 4 subfamily E member 5

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

NCBI chr15:25,187,633...25,188,559
Ensembl chr15:25,179,800...25,191,297

G

olfactory receptor family 5 subfamily AU member 1

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

NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632

G

OXA1L, mitochondrial inner membrane protein

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

NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319

G

poly(A) binding protein, nuclear 1

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

NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703

G

paired box 9

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

NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506

G

phosphoenolpyruvate carboxykinase 2 (mitochondrial)

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

NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283

G

pinin, desmosome associated protein

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

NCBI chr 6:76,758,138...76,766,451
Ensembl chr 6:76,758,117...76,766,889

G

DNA polymerase epsilon 2, accessory subunit

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

NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305

G

protein phosphatase 1, regulatory subunit 3E

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

NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603

G

protein phosphatase 2, regulatory subunit B'', gamma

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

NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491

G

protein kinase D1

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

NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042

G

protein arginine methyltransferase 5

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

NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296

G

protein only RNase P catalytic subunit

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

NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416

G

pre-mRNA processing factor 39

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

NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825

G

proteasome 20S subunit alpha 6

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

NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554

G

proteasome subunit beta 11

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

NCBI chr15:28,084,736...28,085,655

G

proteasome 20S subunit beta 5

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

NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440

G

proteasome activator subunit 1

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

NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890

G

proteasome activator subunit 2

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

NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946

G

RAB2B, member RAS oncogene family

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

NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113

G

Rab geranylgeranyltransferase subunit alpha

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

NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348

G

Ral GTPase activating protein catalytic subunit alpha 1

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

NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378

G

REC8 meiotic recombination protein

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

NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326

G

RRAD and GEM like GTPase 2

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

NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429

G

receptor-interacting serine-threonine kinase 3

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

NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121

G

RNA component of signal recognition particle 7SL1

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

NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103

G

ribonuclease A family member 1, pancreatic

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

NCBI chr15:24,361,924...24,363,633
Ensembl chr15:24,361,927...24,363,624

G

ribonuclease A family member 13

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

NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670

G

ribonuclease A family member 2

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

NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479

G

ribonuclease A family member 3

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

NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790

G

ribonuclease A family member 4

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

NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117

G

ribonuclease A family member 6

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

NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328

G

ring finger protein 212B

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

NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347

G

ring finger protein 31

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

NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915

G

RPGR interacting protein 1

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

NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605

G

ribosomal protein L10 like

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

NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816

G

ribosomal protein L36A like 1

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

NCBI chr 6:87,654,808...87,656,202
Ensembl chr X:97,766,179...97,768,892
Ensembl chr10:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892

G

ribosomal protein S29

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

NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
Ensembl chr13:87,635,230...87,636,636

G

spalt-like transcription factor 2

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

NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918

G

sec1 family domain containing 1

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

NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078

G

short chain dehydrogenase/reductase family 39U, member 1

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

NCBI chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560

G

Sec23 homolog A, COPII coat complex component

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

NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035

G

solute carrier family 22, member 17

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

NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799

G

solute carrier family 25 member 21

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

NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680

G

solute carrier family 39 member 2

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

NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850

G

solute carrier family 7 member 7

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

NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648

G

solute carrier family 7 member 8

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

NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717

G

sorting nexin 6

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

NCBI chr 6:72,230,950...72,274,157
Ensembl chr 6:72,229,870...72,315,911

G

SOS Ras/Rho guanine nucleotide exchange factor 2

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

NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692

G

serine palmitoyltransferase, small subunit A

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

NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214

G

signal recognition particle 54A

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

NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189

G

somatostatin receptor 1

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

NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802

G

striatin 3

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

NCBI chr 6:69,047,776...69,134,102
Ensembl chr 6:69,047,776...69,134,102

G

syntaxin binding protein 6

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

NCBI chr 6:61,920,756...62,157,405
Ensembl chr 6:61,920,756...62,158,024

G

SPT16 homolog, facilitates chromatin remodeling subunit

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

NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846

G

transglutaminase 1

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

NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523

G

thiamine triphosphatase

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

NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580

G

TERF1 interacting nuclear factor 2

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

NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984

G

transmembrane 9 superfamily member 1

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

NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349

G

transmembrane protein 253

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

NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625

G

TOG array regulator of axonemal microtubules 1

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

NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807

G

TOX high mobility group box family member 4

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

NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833

G

tubulin polymerization-promoting protein family member 2

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

NCBI chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967

G

trafficking protein particle complex subunit 6B

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

NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024

G

testis-specific serine kinase 4

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

NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128

G

tetratricopeptide repeat domain 6

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

NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178

G

valosin containing protein lysine methyltransferase

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

NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000

G

zinc finger homeobox 2

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

NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128

G

zinc finger protein 219

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

NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030

bronchopulmonary dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 associated X, apoptosis regulator

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BH3 interacting domain death agonist

RGD

NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720

G

caspase 3

RGD

NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648

G

caspase 8

RGD

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

caspase 9

RGD

NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626

G

catalase

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 7

RGD

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

CD209c molecule

RGD

NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040

G

CD209d molecule

NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171

G

chitinase 3 like 1

protein:decreased secretion:lung, secretion (human)

RGD

NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787

G

C-X-C motif chemokine ligand 1

RGD

NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215

G

dystroglycan 1

DNA:SNP: :p.N494H (human)

RGD

NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325

G

endothelin 1

protein:increased expression:lung (rat)

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

endothelial PAS domain protein 1

treatment

RGD

NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228

G

Fms related receptor tyrosine kinase 1

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion, haplotype:: (human)

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

susceptibility

DNA:polymorphism:exon:p.I105V (human)

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion, haplotype:: (human)

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

H19 imprinted maternally expressed transcript

ameliorates

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

hypoxia inducible factor 1 subunit alpha

treatment

RGD

PMID:23065129 PMID:26431790

RGD:10395385, RGD:11537057

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

interleukin 1 beta

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

CTD
RGD

PMID:16813970 PMID:15539764

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

susceptibility

protein:increased expression:lung
associated with Premature Birth;DNA:polymorphism::

RGD

PMID:15539764 PMID:22882323

RGD:4143172, RGD:12910846

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

integrin subunit alpha 3

ClinVar Annotator: match by term: Bronchopulmonary dysplasia of newborn

NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118

G

mannose binding lectin 2

susceptibility

associated with Premature Birth;DNA:polymorphism:exon:

RGD

NCBI chr 1:228,016,439...228,024,736

G

macrophage migration inhibitory factor

associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung

RGD

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504

G

matrix metallopeptidase 9

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mucin 1, cell surface associated

severity

protein:increased expression:cord plasma

RGD

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

NFKB inhibitor alpha

exacerbates

DNA:SNPs:promoter: (rs2233406, rs2233409) (human)

RGD

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

periostin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099

G

secretoglobin family 1A member 1

RGD

NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610

G

serpin family E member 1

associated with Premature Birth;protein:increased expression:blood:

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

surfactant protein A1

susceptibility

DNA:snps, haplotypes:multiple (human)
DNA:polymorphisms, haplotype: (human)

RGD

PMID:17264398 PMID:11105614

RGD:4143384, RGD:4144876

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

surfactant protein B

susceptibility

DNA:deletion:intron (human)
DNA:SNPs:5'UTR,exon:
DNA:polymorphism:intron (human)

RGD

PMID:15102713 PMID:26045806 PMID:17264398 PMID:12424586

RGD:4143405, RGD:11085373, RGD:4143384, RGD:4143418

NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436

G

surfactant protein D

RGD

NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927

G

tumor necrosis factor

severity
no_association

DNA:SNP:promoter:-238A>G (human)
DNA:SNP:promoter:-308G>A (human)

RGD

PMID:15286263 PMID:15286263

RGD:12904049, RGD:12904049

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

tumor protein p53

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

thioredoxin 1

CTD Direct Evidence: therapeutic

NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629

G

vitamin D receptor

susceptibility

associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human)

RGD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

bullous congenital ichthyosiform erythroderma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

keratin 1

ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma

PMID:12406348 PMID:25741868 PMID:28492532 PMID:30288772

NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844

G

keratin 10

ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma

PMID:1380725 PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 More...

NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701

G

keratin 2

ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition | ClinVar Annotator: match by term: Superficial epidermolytic ichthyosis
OMIM:146800
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 More...

NCBI chr 7:132,940,879...132,948,031
Ensembl chr 7:132,940,862...132,947,963

buphthalmos

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atlastin GTPase 2

ClinVar Annotator: match by term: Congenital glaucoma

PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480

NCBI chr 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421

G

C3 and PZP-like, alpha-2-macroglobulin domain containing 8

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A

NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117

G

cytochrome P450, family 1, subfamily b, polypeptide 1

susceptibility

ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
OMIM:231300
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A388T (human)
DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human)
DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)
DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 More...

RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869

NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917

G

forkhead box C1

OMIM:231300

NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803

G

galactose mutarotase

ClinVar Annotator: match by term: Congenital glaucoma

PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480

NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310

G

heterogeneous nuclear ribonucleoprotein L-like

ClinVar Annotator: match by term: Congenital glaucoma

PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480

NCBI chr 6:14,969,953...15,000,574
Ensembl chr 6:14,970,057...14,999,745

G

latent transforming growth factor beta binding protein 2

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A

NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208

G

myocilin

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic

PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 More...

NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127

G

peroxidasin

ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A

NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345

G

tyrosinase

OMIM:231300

NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207

Caffey disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,4-galactosyltransferase

ClinVar Annotator: match by term: Infantile cortical hyperostosis

PMID:20971946 PMID:28492532

NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071

G

collagen type I alpha 1 chain

DNA:mutation:exon:3040C>T (human)
ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)

ClinVar
CTD
OMIM
RGD

PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 More...

RGD:5688296, RGD:11667069

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

Carey-Fineman-Ziter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE

PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More...

NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343

Carey-Fineman-Ziter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1

PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953

NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomixer, myoblast fusion factor

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2

NCBI chr 9:15,397,086...15,398,263
Ensembl chr 9:15,397,144...15,398,263

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

carnitine palmitoyltransferase 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal

CTD
OMIM
ClinVar

PMID:736528 PMID:835844 PMID:1528846 PMID:2647738 PMID:2762996 More...

NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095

CD3epsilon deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 4

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881

G

apolipoprotein A1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein A4

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469

G

apolipoprotein C3

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

archain 1

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247

G

Rho guanine nucleotide exchange factor 12

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366

G

ATP synthase membrane subunit G

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559

G

beta-secretase 1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876

G

BCL9 like

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611

G

C1q and TNF related 5

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074

G

C2CD2-like

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340

G

Cbl proto-oncogene

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

G

CD3 delta subunit of T-cell receptor complex

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147

G

centrosomal AT-AC splicing factor

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837

G

centrosomal protein 164

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336

G

C-X-C motif chemokine receptor 5

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893

G

DEAD-box helicase 6

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
Ensembl chr 8:44,931,974...44,964,405

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087

G

dynein regulatory complex subunit 12 homolog

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338

G

DS cell adhesion molecule-like 1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320

G

forkhead box R1

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880

G

FXYD domain-containing ion transport regulator 2

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203

G

FXYD domain-containing ion transport regulator 6

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958

G

glutamate ionotropic receptor kainate type subunit 4

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751

G

H2A.X variant histone

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
Ensembl chr 4:44,671,786...44,673,239

G

histone H4 transcription factor

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000

G

hydroxymethylbilane synthase

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957

G

hypoxia up-regulated 1

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186

G

intraflagellar transport 46

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052

G

interleukin 10 receptor subunit alpha

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061

G

junction adhesion molecule like

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

G

melanoma cell adhesion molecule

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571

G

membrane frizzled-related protein

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859

G

myelin protein zero-like 2

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298

G

myelin protein zero-like 3

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787

G

NHERF family PDZ scaffold protein 4

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860

G

NLR family member X1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484

G

out at first homolog

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334

G

platelet-activating factor acetylhydrolase 1b, catalytic subunit 2

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705

G

pleckstrin homology-like domain, family B, member 1

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522

G

POU class 2 homeobox 3

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795

G

ring finger protein 214

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576

G

ring finger protein 26

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331

G

ribosomal protein s25

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
Ensembl chr 8:44,733,029...44,737,271

G

sterol-C5-desaturase

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273

G

sodium voltage-gated channel beta subunit 2

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765

G

sodium voltage-gated channel beta subunit 4

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292

G

SID1 transmembrane family, member 2

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700

G

SIK family kinase 3

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444

G

solute carrier family 37 member 4

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301

G

sortilin related receptor 1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513

G

transgelin

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668

G

tubulin folding cofactor E-like

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552

G

tectorin alpha

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707

G

Thy-1 cell surface antigen

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659

G

TLC domain containing 5

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290

G

transmembrane protein 25

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389

G

transmembrane serine protease 13

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938

G

transmembrane serine protease 4

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409

G

trafficking protein particle complex subunit 4

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491

G

trehalase

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540

G

tripartite motif-containing 29

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992

G

tetratricopeptide repeat domain 36

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,112,737...45,116,345

G

ubiquitination factor E4A

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038

G

uroplakin 2

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190

G

ubiquitin specific peptidase 2

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331

G

VPS11 core subunit of CORVET and HOPS complexes

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568

central conducting lymphatic anomaly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EPH receptor B4

ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7

PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More...

NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314

G

MyoD family inhibitor domain containing

OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY

MouseDO
ClinVar

PMID:25741868 PMID:35235341

NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161

G

solute carrier family 12, member 9

ClinVar Annotator: match by term: Lymphatic malformation 7

PMID:25741868 PMID:28492532

NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877

Chanarin-Dorfman syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
OMIM:275630
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:545139 PMID:3354610 PMID:6181472 PMID:7362208 PMID:11590543 More...

NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447

G

anoctamin 10

ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis

PMID:11590543 PMID:25741868 PMID:28492532

NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670

G

cadherin-related family member 5

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543

G

cell cycle exit and neuronal differentiation 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302

G

DEAF1 transcription factor

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541

G

dopamine receptor D4

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553

G

EPS8-like 2

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541

G

glutamine amidotransferase class 1 domain containing 1

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

interferon regulatory factor 7

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832

G

lamin tail domain containing 2

ClinVar Annotator: match by term: Neutral lipid storage myopathy

NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156