adrenal gland disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	adrenal gland disease	go back to main search page
Accession:	DOID:9553	browse the term
Definition:	An endocrine system disease that is located_in the adrenal gland. (DO)
Synonyms:	exact_synonym:	adrenal gland diseases
	primary_id:	MESH:D000307
	xref:	EFO:0005539; ICD10CM:E27.9; ICD9CM:255.9; NCI:C26690

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Rat (371) Mouse (315) Human (6696) Chinchilla (253) Bonobo (289) Dog (278) Squirrel (266) Pig (278) Green Monkey (282) Naked Mole-rat (256) All
Genes (286) QTL (7) Cell Lines (78)

adrenal gland disease

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein hormones, alpha polypeptide

CTD Direct Evidence: therapeutic

NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191

G

melanocortin 2 receptor accessory protein

NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024

17,20-Lyase Deficiency, Isolated

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 17, subfamily a, polypeptide 1

ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial

PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 More...

NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573

46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial ribosomal protein S22

ClinVar Annotator: match by term: 46 XX gonadal dysgenesis

PMID:25741868 PMID:28492532 PMID:29566152

NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291

G

Wnt family member 4

ClinVar Annotator: match by term: SERKAL syndrome

PMID:18179883 PMID:25741868

NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859

ACTH-independent macronodular adrenal hyperplasia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GNAS complex locus

ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA

PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More...

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

ACTH-independent macronodular adrenal hyperplasia 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

armadillo repeat containing 5

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PRIMARY MACRONODULAR ADRENAL HYPERPLASIA

NCBI chr 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907

G

glucagon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr10:105,808,474...105,816,641
Ensembl chr10:105,808,473...105,816,640

G

GNAS complex locus

ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA | ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 1 | ClinVar Annotator: match by term: ADRENOCORTICOTROPIC HORMONE-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA | ClinVar Annotator: match by term: CUSHING SYNDROME, ADRENAL, DUE TO AIMAH
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.R201S, p.R201H (human)

OMIM
ClinVar
CTD
RGD

PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More...

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

protein kinase cAMP-activated catalytic subunit alpha

ClinVar Annotator: match by term: ACTH-independent adrenal Cushing syndrome, somatic

PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271

NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430

ACTH-independent macronodular adrenal hyperplasia 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

armadillo repeat containing 5

ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2 | ClinVar Annotator: match by term: ARMC5-related condition

PMID:24283224 PMID:24601692 PMID:24708098 PMID:24905064 PMID:25741868 More...

NCBI chr 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907

ACTH-independent Macronodular Adrenal Hyperplasia 3

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine demethylase 1A

ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 3

PMID:34655521 PMID:34906447

NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319

Addison's disease

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily D member 1

ClinVar Annotator: match by term: Primary adrenocortical insufficiency

PMID:7581394 PMID:7668254 PMID:8040304 PMID:8651290 PMID:8773611 More...

NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115

G

class II, major histocompatibility complex, transactivator

DNA:polymorphism:intron:rs8048002T>C (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18593762 PMID:18593762

NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440

G

C-type lectin domain containing 16A

DNA:polymorphism:intron:rs12917716C (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18593762 PMID:18593762

NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578

G

protein tyrosine phosphatase, non-receptor type 22

DNA: snp: cds: rs2476601

RGD

NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Bb

DNA:polymorphism (human)
DNA:repeat (human)

RGD

PMID:20455895 PMID:12072047

RGD:5147608, RGD:5147829

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

DNA:polymorphisms (human)
DNA:polymorphism (human)

RGD

PMID:21816777 PMID:19858318

RGD:5147553, RGD:5147588

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

vitamin D receptor

GAD

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

adrenal carcinoma

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pleiotrophin

human gene in a mouse model

RGD

NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456

adrenal cortex disease

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proopiomelanocortin

CTD Direct Evidence: therapeutic

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

Adrenal Cortex Neoplasms

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha i2

ClinVar Annotator: match by term: Adrenal cortical tumor, somatic

NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Adrenal cortical tumor, somatic

PMID:12203783 PMID:14500362

NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

G

tumor protein p53

DNA:missense mutation::p.R337H (human)

RGD

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

adrenal cortical adenoma

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 1

ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma

NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma

NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775

G

cytochrome P450, family 11, subfamily b, polypeptide 1

mRNA:decreased expression:adrenal gland (human)

RGD

NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278

G

cytochrome P450, family 11, subfamily b, polypeptide 2

mRNA:increased expression:adrenal gland (human)

RGD

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

G

cytochrome P450, family 11, subfamily b, polypeptide 3

mRNA:increased expression:adrenal gland (human)

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

G

menin 1

ClinVar Annotator: match by term: Adrenocortical adenoma

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

G

protein kinase cAMP-activated catalytic subunit alpha

associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human)

RGD

NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198

Adrenal Gland Neoplasms

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 42

CTD Direct Evidence: marker/mechanism

NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111

G

cyclin-dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

gonadotropin releasing hormone 1

CTD Direct Evidence: therapeutic

NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581

G

gonadotropin releasing hormone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861

G

protein kinase cAMP-activated catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430

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

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

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

G

thyroid stimulating hormone receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538

adrenal gland pheochromocytoma

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 1B

ClinVar Annotator: match by term: Adrenal gland pheochromocytoma

NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778

Adrenal Hyperplasia 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 More...

NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852

Adrenal Insufficiency

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 associated X, apoptosis regulator

associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex

RGD

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

G

BCL2, apoptosis regulator

associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

cytochrome P450, family 11, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

G

nuclear receptor subfamily 5, group A, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328

G

phospholipase A2 group IIA

associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal gland

RGD

NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014

G

proopiomelanocortin

RGD

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

sodium channel epithelial 1 subunit beta

Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X

RGD

NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451

G

T-box transcription factor 19

ClinVar Annotator: match by term: Adrenal insufficiency

NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163

adrenocortical carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Adrenal cortex carcinoma

PMID:25674384 PMID:28492532 PMID:30349098

NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATRX, chromatin remodeler

ClinVar Annotator: match by term: Adrenal cortex carcinoma

PMID:15591283 PMID:18409179 PMID:23681356 PMID:28492532

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

BRCA1 associated deubiquitinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

baculoviral IAP repeat-containing 2

exacerbates

mRNA:increased expression:adrenal gland (human)

NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732

G

baculoviral IAP repeat-containing 3

ameliorates

mRNA:increased expression:adrenal gland (human)

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

baculoviral IAP repeat-containing 5

exacerbates

mRNA:increased expression:adrenal gland (human)

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

baculoviral IAP repeat-containing 6

exacerbates

mRNA:increased expression:adrenal gland (human)

NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434

G

baculoviral IAP repeat-containing 7

ameliorates

mRNA:increased expression:adrenal gland (human)

NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606

G

B-Raf proto-oncogene, serine/threonine kinase

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

PMID:12068308 PMID:14612909 PMID:14679157 PMID:14688025 PMID:17096326 More...

NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

G

basigin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387

G

cyclin-dependent kinase inhibitor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278

G

checkpoint kinase 2

ClinVar Annotator: match by term: Adrenal cortex carcinoma

PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 More...

NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286

G

catenin beta 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma

PMID:9065403 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 More...

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

death-domain associated protein

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

Fas associated factor 1

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr 5:124,426,032...124,790,014
Ensembl chr 5:124,426,062...124,789,977

G

GNAS complex locus

ClinVar Annotator: match by term: Adrenocortical carcinoma

PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More...

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

H3.3 histone A

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908

G

insulin-like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

insulin-like growth factor 2

CTD Direct Evidence: marker/mechanism

PMID:21521927 PMID:23417626

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

insulin-like 6

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

Janus kinase 2

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: Adrenal cortex carcinoma

PMID:22795537 PMID:25356970 PMID:25741868 PMID:25810209 PMID:27959697 More...

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

G

mediator complex subunit 12

CTD Direct Evidence: marker/mechanism

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

G

menin 1

CTD Direct Evidence: marker/mechanism

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

G

mutL homolog 1

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

mutS homolog 6

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Adrenocortical carcinoma

PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More...

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

RAD52 homolog, DNA repair protein

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

ribonucleotide reductase catalytic subunit M1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: Adrenal cortex carcinoma

NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975

G

secreted protein acidic and cysteine rich

CTD Direct Evidence: marker/mechanism

NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396

G

telomerase reverse transcriptase

CTD Direct Evidence: marker/mechanism

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

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874

G

tumor protein p53

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma

PMID:253702 PMID:1349102 PMID:1565143 PMID:1565144 PMID:1631137 More...

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

G

X-linked inhibitor of apoptosis

ameliorates

mRNA:increased expression:adrenal gland (human)

NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700

G

zinc and ring finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,157,854...80,313,456
Ensembl chr14:80,160,278...80,313,485

adrenocorticotropic hormone deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

piezo-type mechanosensitive ion channel component 1

ClinVar Annotator: match by term: ACTH deficiency

NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501

G

retinoid isomerohydrolase RPE65

ClinVar Annotator: match by term: ACTH deficiency

PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More...

NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403

G

T-box transcription factor 19

OMIM:201400
ClinVar Annotator: match by term: ACTH deficiency
CTD Direct Evidence: marker/mechanism

OMIM
MouseDO
ClinVar
CTD

PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More...

NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163

adrenoleukodystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily D member 1

susceptibility

ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy
OMIM:300100
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More...

NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115

G

acyl-CoA synthetase bubblegum family member 1

RGD

NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391

G

Rho GTPase activating protein 4

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775

G

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034

G

arginine vasopressin receptor 2

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989

G

B-cell receptor-associated protein 31

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506

G

biglycan

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461

G

BRCA1/BRCA2-containing complex subunit 3

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080

G

cyclin Q

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

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

G

chloride intracellular channel 2

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355

G

C-X9-C motif containing 4

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160

G

cancer/testis antigen 2

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

G

deoxyribonuclease 1-like 1

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518

G

dual specificity phosphatase 9

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821

G

emerin

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

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

G

coagulation factor VIII

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857

G

coagulation factor VIII-associated 1

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168

G

FAM3 metabolism regulating signaling molecule A

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362

G

family with sequence similarity 50, member A

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362

G

filamin A

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

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

G

FUN14 domain containing 2

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

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

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801

G

GDP dissociation inhibitor 1

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272

G

H2A.B variant histone 3

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

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

G

HAUS augmin-like complex, subunit 7

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

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

G

host cell factor C1

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

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

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499

G

interleukin-1 receptor-associated kinase 1

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521

G

L1 cell adhesion molecule

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

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

G

L antigen family, member 3

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632

G

methyl CpG binding protein 2

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689

G

matrix metallopeptidase 10

severity

protein:increased expression:cerebrospinal fluid

RGD

NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748

G

matrix metallopeptidase 2

protein:increased expression:cerebrospinal fluid

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

protein:increased expression:cerebrospinal fluid

RGD

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

G

MAGUK p55 scaffold protein 1

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

G

mature T-cell proliferation 1

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

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

G

N(alpha)-acetyltransferase 10, NatA catalytic subunit

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

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

G

NAD(P) dependent steroid dehydrogenase-like

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

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

G

opsin 1, medium wave sensitive

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388

G

PDZ domain containing 4

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826

G

peroxisomal biogenesis factor 13

CTD Direct Evidence: marker/mechanism

NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262

G

peroxisomal biogenesis factor 26

CTD Direct Evidence: marker/mechanism

NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952

G

plexin A3

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

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

G

plexin B3

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674

G

pregnancy up-regulated nonubiquitous CaM kinase

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

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

G

PNMA family member 3

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

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

G

PNMA family member 5

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

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

G

PNMA family member 6E

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

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

G

renin binding protein

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516

G

ribosomal protein L10

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761

G

solute carrier family 10, member 3

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958

G

solute carrier family 6 member 8

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979

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

SRSF protein kinase 3

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198

G

signal sequence receptor subunit 4

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202

G

tafazzin, phospholipid-lysophospholipid transacylase

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001

G

testis expressed 28

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

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

G

TIMP metallopeptidase inhibitor 1

severity

protein:increased expression:cerebrospinal fluid

RGD

NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664

G

transketolase-like 1

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208

G

trimethyllysine hydroxylase, epsilon

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386

G

three prime repair exonuclease 2

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479

G

ubiquitin-like 4A

ClinVar Annotator: match by term: Adrenoleukodystrophy

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

NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069

G

VHL binding protein 1

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

G

zinc finger protein 185

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810

G

ZFP92 zinc finger protein

ClinVar Annotator: match by term: Adrenoleukodystrophy

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177

apparent mineralocorticoid excess syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hydroxysteroid 11-beta dehydrogenase 2

ClinVar Annotator: match by term: Apparent mineralocorticoid excess | ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild | ClinVar Annotator: match by term: Cortisol 11-beta-ketoreductase deficiency
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:3860318 PMID:7593456 PMID:7608290 PMID:7670488 PMID:9398712 More...

NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899

G

protein kinase cAMP-dependent type I regulatory subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

Autosomal Dominant Hypocalcemia, with Bartter Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome

PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More...

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

Bartter disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

barttin CLCNK type accessory subunit beta

Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome

PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More...

NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571

G

chloride voltage-gated channel Kb

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

CTD
ClinVar
MouseDO

PMID:9326936 PMID:10561751 PMID:10831588 PMID:10906158 PMID:11734858 More...

NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153

G

potassium inwardly-rectifying channel, subfamily J, member 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome

PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10561751 More...

NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796

G

renin

CTD Direct Evidence: marker/mechanism

PMID:929154 PMID:3519017 PMID:15976003

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

solute carrier family 12 member 1

antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
ClinVar Annotator: match by term: Bartter syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:8640224 PMID:9585600 PMID:10561751 PMID:16199547 PMID:18391953 More...

NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899

G

solute carrier family 12 member 3

ClinVar Annotator: match by term: Bartter's syndrome

PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More...

NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091

Bartter disease type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 12 member 1

ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition
OMIM:601678
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More...

NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899

Bartter disease type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium inwardly-rectifying channel, subfamily J, member 1

ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal
OMIM:241200
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More...

NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796

Bartter disease type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

ClinVar Annotator: match by term: Bartter disease type 3

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

G

chloride voltage-gated channel Ka

ClinVar Annotator: match by term: Bartter disease type 3

NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148

G

chloride voltage-gated channel Kb

ClinVar Annotator: match by term: Bartter disease type 3
OMIM:607364
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More...

NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153

G

solute carrier family 12 member 1

ClinVar Annotator: match by term: Bartter disease type 3

NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899

Bartter disease type 4A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

barttin CLCNK type accessory subunit beta

ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A
OMIM:602522
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More...

NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571

Bartter disease type 4b

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel Ka

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B

OMIM
CTD
ClinVar

PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148

G

chloride voltage-gated channel Kb

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B

OMIM
CTD
ClinVar

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153

Bartter disease type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MAGE family member D2

ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient

PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562

NCBI chr X:19,733,593...19,741,769
Ensembl chr X:19,733,597...19,740,477

Bartter Syndrome Type 3, with Hypocalciuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel Kb

ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria

PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More...

NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153

congenital adrenal hyperplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arginine vasopressin receptor 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215

G

arginine vasopressin receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989

G

cytochrome P450, family 11, subfamily a, polypeptide 1

DNA:splice-site mutation

RGD

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

G

cytochrome P450, family 11, subfamily b, polypeptide 1

11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human)
DNA:frameshift mutation:cds:p.394fsX469 (human)

RGD

PMID:8964882 PMID:1430088

RGD:1600799, RGD:734864

NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278

G

cytochrome P450, family 11, subfamily b, polypeptide 2

ClinVar Annotator: match by term: Congenital adrenal hyperplasia

PMID:3295546 PMID:8506298 PMID:8964882 PMID:9302260 PMID:9536098 More...

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

G

cytochrome P450, family 17, subfamily a, polypeptide 1

DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:1577471 PMID:2493025 PMID:2786493 PMID:2843762 PMID:8027220 More...

NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573

G

cytochrome P450, family 21, subfamily a, polypeptide 1

DNA:mutations:cds:multiple (human)

RGD

NCBI chr20:4,020,217...4,026,923
Ensembl chr20:4,023,767...4,026,923

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital adrenal hyperplasia

PMID:1825279 PMID:7626445 PMID:7633460 PMID:7651769 PMID:7962268 More...

NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852

G

5-hydroxytryptamine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321

G

phosphodiesterase 8B

CTD Direct Evidence: marker/mechanism

NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209

G

cytochrome p450 oxidoreductase

DNA:missense mutations:cds:p.A287P, p.H628P (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9360545 PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 More...

NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245

G

protein kinase cAMP-dependent type I regulatory subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

G

renin

protein:increased expression:blood serum (human)

RGD

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

steroidogenic acute regulatory protein

susceptibility

DNA:transversion:intron:g.IVS4-11T>A (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110

ClinVar
MouseDO
RGD

PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 More...

RGD:1600070, RGD:4145592

NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672

G

tenascin XB

ClinVar Annotator: match by term: Congenital adrenal hyperplasia

PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 More...

Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 11, subfamily b, polypeptide 2

ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 More...

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

G

cytochrome P450, family 11, subfamily b, polypeptide 3

ClinVar Annotator: match by term: P450c11b1 deficiency

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 11, subfamily a, polypeptide 1

ClinVar Annotator: match by term: CYP21 deficiency | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

PMID:25741868 PMID:26300845 PMID:28492532 PMID:30233493 PMID:30299480 More...

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

G

cytochrome P450, family 17, subfamily a, polypeptide 1

ClinVar Annotator: match by term: CYP21 deficiency

PMID:9326943 PMID:9601054 PMID:12466376 PMID:14747197 PMID:25741868 More...

NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573

G

cytochrome P450, family 19, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758

G

insulin-like growth factor binding protein, acid labile subunit

protein:decreased expression:serum

RGD

NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677

G

insulin-like growth factor binding protein 3

protein:increased expression:serum

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

G

cytochrome p450 oxidoreductase

ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:27376429 More...

NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245

G

tenascin XB

ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 More...

Congenital Adrenal Hyperplasia, Type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 17, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1515452 PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 More...

NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573

congenital adrenal insufficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 11, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 More...

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

corticosteroid-binding globulin deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family A member 6

ClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency | ClinVar Annotator: match by term: TRANSCORTIN DEFICIENCY
OMIM:611489
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:1504007 PMID:7061486 PMID:8212073 PMID:10634411 PMID:11502797 More...

NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349

corticosterone methyloxidase deficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 11, subfamily b, polypeptide 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency | ClinVar Annotator: match by term: Corticosterone 18-monooxygenase deficiency | ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency | ClinVar Annotator: match by term: Early-onset familial hypoaldosteronism | ClinVar Annotator: match by term: Familial hypoaldosteronism | ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY

CTD
OMIM
ClinVar

PMID:1346492 PMID:1594605 PMID:2044581 PMID:7485152 PMID:7792802 More...

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 11, subfamily b, polypeptide 3

ClinVar Annotator: match by term: CMO II DEFICIENCY | ClinVar Annotator: match by term: CYP11B2-related disorder

PMID:1594605 PMID:2044581 PMID:8530633 PMID:8954040 PMID:9360501 More...

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

Cushing Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arginine vasopressin receptor 1B

RGD

NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792

G

corticotropin releasing hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919

G

gamma-aminobutyric acid type A receptor subunit alpha6

DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism

RGD

NCBI chr10:26,810,411...26,825,768
Ensembl chr10:26,810,423...26,825,769

G

GNAS complex locus

ClinVar Annotator: match by term: Cushing syndrome

PMID:2109828 PMID:11784876 PMID:12970262 PMID:21525160 PMID:21713996 More...

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

nuclear receptor subfamily 3, group C, member 1

protein:decreased activity:blood, mononuclear leukocyte

RGD

PMID:19635986 PMID:10356629 PMID:10471508

RGD:7174715, RGD:7174723, RGD:7174722

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

PMID:6088243 PMID:19153526

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198

G

protein kinase cAMP-dependent type I regulatory subunit alpha

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15521956 PMID:29367455 PMID:12213893

NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

Familial Hyperaldosteronism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium inwardly-rectifying channel, subfamily J, member 5

ClinVar Annotator: match by term: Familial hyperaldosteronism

PMID:25741868 PMID:28492532

NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518

Familial Hyperaldosteronism, Type II

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FH II | ClinVar Annotator: match by term: Familial hyperaldosteronism type II

CTD
OMIM
ClinVar

PMID:1521363 PMID:17762171 PMID:19191339 PMID:19861545 PMID:21703448 More...

NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657

G

SATB homeobox 1

ClinVar Annotator: match by term: Familial hyperaldosteronism type II

NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251

Familial Hyperaldosteronism, Type III

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium inwardly-rectifying channel, subfamily J, member 5

ClinVar Annotator: match by term: FH III | ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III

PMID:20560207 PMID:21311022 PMID:22203740 PMID:22252394 PMID:22308486 More...

NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518

Familial Hyperaldosteronism, Type IV

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 H

susceptibility

ClinVar Annotator: match by term: ALDOSTERONISM, PRIMARY, AND HYPERTENSION | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV

PMID:17696120 PMID:25741868 PMID:25907736 PMID:26467025 PMID:27148582 More...

NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376

glucocorticoid deficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

melanocortin 2 receptor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACTH resistance | ClinVar Annotator: match by term: Glucocorticoid deficiency 1

OMIM
CTD
ClinVar

PMID:7829641 PMID:8069303 PMID:8094489 PMID:8227361 PMID:8250922 More...

NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488

G

melanocortin 2 receptor accessory protein

ClinVar Annotator: match by term: Glucocorticoid deficiency 1

PMID:15654338 PMID:24033266 PMID:25741868

NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024

G

nicotinamide nucleotide transhydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823

Glucocorticoid Deficiency 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

melanocortin 2 receptor accessory protein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition

OMIM
CTD
ClinVar

PMID:15654338 PMID:16868047 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024

G

URB1 ribosome biogenesis homolog

ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition

PMID:25741868 PMID:28492532

NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363

Glucocorticoid Deficiency 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nicotinamide nucleotide transhydrogenase

ClinVar Annotator: match by term: Glucocorticoid deficiency 4 | ClinVar Annotator: match by term: NNT-related condition

PMID:22634753 PMID:23474776 PMID:25741868 PMID:26070314 PMID:26548497 More...

NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823

Glucocorticoid Deficiency 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catechol-O-methyltransferase

ClinVar Annotator: match by term: Glucocorticoid deficiency 5

PMID:25741868 PMID:28492532

NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642

G

thioredoxin reductase 2

ClinVar Annotator: match by term: Glucocorticoid deficiency 5 | ClinVar Annotator: match by term: TXNRD2-related condition

PMID:16199547 PMID:21247928 PMID:24601690 PMID:25741868 PMID:26300845 More...

NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156

glucocorticoid-remediable aldosteronism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 11, subfamily b, polypeptide 2

ClinVar Annotator: match by term: ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE | ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I
ClinVar Annotator: match by term: ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE | ClinVar Annotator: match by term: GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM | ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1472060 PMID:1731223 PMID:2022736 PMID:7049883 PMID:7903314 More...

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

G

cytochrome P450, family 11, subfamily b, polypeptide 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE | ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism

PMID:1472060 PMID:1594605 PMID:1731223 PMID:8530633 PMID:8954040 More...

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

G

hemoglobin, beta adult major chain

ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism

PMID:1398286 PMID:1742490 PMID:3401592 PMID:12402333 PMID:16434382 More...

NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012

Hereditary Adrenocortical Carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary

CTD
OMIM
ClinVar

PMID:224644 PMID:253702 PMID:1200021 PMID:1349175 PMID:1394133 More...

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

Hypoaldosteronism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 11, subfamily b, polypeptide 2

CMO II deficiency, OMIM:610600; protein:missense mutations:cds:p.R181W, p.V386A (human)

RGD

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

G

cytochrome P450, family 11, subfamily b, polypeptide 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

G

Rh family, C glycoprotein

treatment

RGD

NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876

IMAGe syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 1C

ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More...

NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048

IMAGEI Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 More...

NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939

Isolated Mineralocorticoid Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear receptor subfamily 0, group B, member 1

ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated

PMID:17164309 PMID:25741868 PMID:28492532

NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011

Lipoid Congenital Adrenal Hyperplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 11, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

G

steroidogenic acute regulatory protein

ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism | ClinVar Annotator: match by term: STAR-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 More...

NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672

MIRAGE Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sterile alpha motif domain containing 9

ClinVar Annotator: match by term: MIRAGE syndrome | ClinVar Annotator: match by term: MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY

PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 More...

NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322

Pediatric Adrenocortical Carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

ClinVar Annotator: match by term: Adrenocortical carcinoma, pediatric

PMID:9582268 PMID:9704930 PMID:9704931 PMID:10864200 PMID:11481490 More...

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

peroxisomal acyl-CoA oxidase deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA oxidase 1

ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy
OMIM:264470
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More...

NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232

G

Fas binding factor 1

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

NCBI chr10:101,375,769...101,401,624
Ensembl chr10:101,375,775...101,401,644

G

galactokinase 1

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337

G

H3.3 histone B

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

NCBI chr10:101,256,484...101,258,716
Ensembl chr10:101,256,480...101,258,709
Ensembl chr13:101,256,480...101,258,709

G

integrin subunit beta 4

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012

G

mitochondrial ribosomal protein L38

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

NCBI chr10:101,365,353...101,372,159
Ensembl chr10:101,365,353...101,372,171

G

TEN1 subunit of CST complex

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

PMID:8040306 PMID:17458872 PMID:25741868 PMID:28492532

NCBI chr10:101,431,328...101,455,105
Ensembl chr10:101,431,328...101,453,052

G

tripartite motif-containing 47

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

NCBI chr10:101,337,573...101,342,044
Ensembl chr10:101,337,573...101,342,044

G

tripartite motif-containing 65

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

NCBI chr10:101,357,937...101,364,036
Ensembl chr10:101,357,937...101,364,971

G

unc-13 homolog D

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687

G

unk zinc finger

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

NCBI chr10:101,265,732...101,295,950
Ensembl chr10:101,265,703...101,295,967

G

WW domain binding protein 2

ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency

NCBI chr10:101,312,476...101,320,775
Ensembl chr10:101,312,446...101,320,736

peroxisome biogenesis disorder 2B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily D member 1

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115

G

acrosin binding protein

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213

G

acyl-CoA synthetase medium-chain family member 4

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341

G

activation-induced cytidine deaminase

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

G

apolipoprotein B mRNA editing enzyme catalytic subunit 1

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390

G

atrophin 1

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132

G

complement C1r

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484

G

complement C1r subcomponent like

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134

G

complement C1s

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303

G

complement C3a receptor 1

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701

G

CD163 molecule

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD27 molecule

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592

G

Cd4 molecule

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191

G

cell division cycle associated 3

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799

G

chromodomain helicase DNA binding protein 4

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541

G

C-type lectin domain family 4, member A1

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008

G

C-type lectin domain family 4, member A3

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817

G

C-type lectin domain family 4, member B2

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240

G

C-type lectin domain family 4, member D

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848

G

C-type lectin domain family 4, member E

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767

G

C-type lectin domain family 6, member A, pseudogene 1

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605
Ensembl chr 4:156,539,408...156,558,605

G

calsyntenin 3

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769

G

COP9 signalosome subunit 7A

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948

G

developmental pluripotency-associated 3

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861
Ensembl chr 5:155,815,296...155,854,861

G

EMG1 N1-specific pseudouridine methyltransferase

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540

G

enolase 2

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980

G

family with sequence similarity 90 member A1A

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241

G

forkhead box J2

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518

G

glyceraldehyde-3-phosphate dehydrogenase

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

G

growth differentiation factor 3

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937

G

G protein subunit beta 3

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173

G

G protein-coupled receptor 162

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121

G

gene rich cluster, C10 gene

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,551,276...157,552,924

G

intermediate filament family orphan 1

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302

G

inhibitor of growth family, member 4

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265

G

lymphocyte activating 3

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404

G

lysophosphatidic acid receptor 5

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:157,881,796...157,882,950

G

lysophosphatidylcholine acyltransferase 3

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880

G

leucine rich repeat containing 23

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860

G

lymphotoxin beta receptor

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539

G

microfibril associated protein 5

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458

G

microRNA 141

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332

G

microRNA 200c

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,523,679...157,523,747

G

myeloid leukemia factor 2

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317

G

mitochondrial ribosomal protein L51

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414

G

Nanog homeobox

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116

G

non-SMC condensin I complex, subunit D2

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020

G

NECAP endocytosis associated 1

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068

G

NOP2 nucleolar protein

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459

G

prolyl 3-hydroxylase 3

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035

G

peroxisomal biogenesis factor 5

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More...

NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431

G

prohibitin 2

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272

G

PILR alpha associated neural protein

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842

G

parathymosin

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009

G

protein tyrosine phosphatase, non-receptor type 6

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984

G

ribosomal modification protein rimK-like family member B

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

G

solute carrier family 2 member 3

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896

NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472

G

splA/ryanodine receptor domain and SOCS box containing 2

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284

G

TAP binding protein-like

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:158,021,454...158,028,905

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

triosephosphate isomerase 1

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541

G

ubiquitin specific peptidase 5

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711

G

vesicle-associated membrane protein 1

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349

G

zinc finger protein 384

ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B

NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766

Primary Aldosteronism, Seizures, and Neurologic Abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 D

ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities

PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More...

NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215

primary hyperaldosteronism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837

G

ATPase plasma membrane Ca2+ transporting 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775

G

calcium voltage-gated channel subunit alpha1 D

CTD Direct Evidence: marker/mechanism

NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215

G

calcium voltage-gated channel subunit alpha1 H

ClinVar Annotator: match by term: Hyperaldosteronism | ClinVar Annotator: match by term: Primary aldosteronism

PMID:25741868 PMID:25907736 PMID:28492532

NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376

G

chloride voltage-gated channel 2

CTD Direct Evidence: marker/mechanism
OMIM:605635 | OMIM:613677

NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657

G

corticotropin releasing hormone

OMIM:605635 | OMIM:613677

NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919

G

cytochrome b-245 beta chain

Protein:increased expression:heart ventricle

RGD

NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586

G

cytochrome P450, family 11, subfamily b, polypeptide 1

DNA:gene fusion:intron:Cyp11b2 (human)

RGD

NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278

G

cytochrome P450, family 11, subfamily b, polypeptide 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

G

cytochrome P450, family 11, subfamily b, polypeptide 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048

G

dopamine receptor D2

OMIM:605635 | OMIM:613677

NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875

G

GNAS complex locus

ClinVar Annotator: match by term: Cushing syndrome

PMID:2109828 PMID:11784876 PMID:12970262 PMID:21525160 PMID:21713996 More...

NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262

G

nuclear receptor subfamily 3, group C, member 1

OMIM:605635 | OMIM:613677

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

renin

protein:increased activity:blood plasma (human)

RGD

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

serpin family A member 1

RGD

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

primary pigmented nodular adrenocortical disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase cAMP-dependent type I regulatory subunit alpha

OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830

NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

primary pigmented nodular adrenocortical disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase cAMP-dependent type I regulatory subunit alpha

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 1

OMIM
CTD
ClinVar

PMID:9536098 PMID:12213893 PMID:17576681 PMID:21651393 PMID:22464250 More...

NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

primary pigmented nodular adrenocortical disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmocollin 2

ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2

PMID:23911551 PMID:25741868 PMID:28492532 PMID:30122538 PMID:32686758 More...

NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392

G

phosphodiesterase 11A

ClinVar Annotator: match by term: PDE11A-related condition | ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:21681106 More...

NCBI chr 3:60,913,562...61,297,154
Ensembl chr 3:60,913,562...61,297,158

primary pigmented nodular adrenocortical disease 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphodiesterase 8B

ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 3

NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209

primary pigmented nodular adrenocortical disease 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase cAMP-activated catalytic subunit alpha

ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 4

PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271

NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430

Proopiomelanocortin Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: POMC-related condition | ClinVar Annotator: match by term: Proopiomelanocortin deficiency

CTD
OMIM
ClinVar

PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 More...

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

Sensorineural Deafness with Mild Renal Dysfunction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

barttin CLCNK type accessory subunit beta

ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction

PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More...

NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571

triple-A syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position