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adrenal cortex disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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 cortex disease
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Accession:DOID:3952 term browser browse the term
Definition:An adrenal gland disease that is located_in the adrenal cortex. (DO)
Synonyms:exact_synonym: adrenal cortex diseases
 primary_id: MESH:D000303
For additional species annotation, visit the Alliance of Genome Resources.

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adrenal cortex disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:11370731 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
ACTH-independent macronodular adrenal hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA ClinVar PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More... NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
ACTH-independent macronodular adrenal hyperplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PRIMARY MACRONODULAR ADRENAL HYPERPLASIA		 CTD
ClinVar		 PMID:25741868 NCBI chr 1:192,250,580...192,257,347
Ensembl chr 1:182,820,141...182,826,907 		JBrowse link
G Gcgr glucagon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20529775 NCBI chr10:106,306,803...106,314,970
Ensembl chr10:105,808,473...105,816,640 		JBrowse link
G Gnas GNAS complex locus ISO 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... RGD:11568052 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO ClinVar Annotator: match by term: ACTH-independent adrenal Cushing syndrome, somatic ClinVar PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271 NCBI chr19:41,059,843...41,083,189
Ensembl chr19:24,155,090...24,178,430 		JBrowse link
ACTH-independent macronodular adrenal hyperplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2 | ClinVar Annotator: match by term: ARMC5-related condition OMIM
ClinVar		 PMID:24283224 PMID:24601692 PMID:24708098 PMID:24905064 PMID:25741868 More... NCBI chr 1:192,250,580...192,257,347
Ensembl chr 1:182,820,141...182,826,907 		JBrowse link
ACTH-independent Macronodular Adrenal Hyperplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 3 | ClinVar Annotator: match by term: KDM1A-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34655521 More... NCBI chr 5:154,066,436...154,121,913
Ensembl chr 5:148,782,976...148,838,319 		JBrowse link
Addison's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Primary adrenocortical insufficiency ClinVar PMID:7581394 PMID:7668254 PMID:8040304 PMID:8651290 PMID:8773611 More... NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO DNA:polymorphism:intron:rs8048002T>C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18593762 PMID:18593762 RGD:5491177 NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs12917716C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18593762 PMID:18593762 RGD:5491177 NCBI chr10:5,434,725...5,631,246
Ensembl chr10:4,928,030...5,123,578 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human)
DNA:repeat (human)		 RGD PMID:20455895 PMID:12072047 RGD:5147608, RGD:5147829 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms (human)
DNA:polymorphism (human)		 RGD PMID:21816777 PMID:19858318 RGD:5147553, RGD:5147588 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Adrenal Cortex Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Adrenal cortex neoplasm ClinVar PMID:10192393 PMID:10666372 PMID:26822237 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Adrenal cortical tumor, somatic ClinVar PMID:2116665 NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Adrenal cortical tumor, somatic ClinVar PMID:12203783 PMID:14500362 NCBI chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Tp53 tumor protein p53 ISO DNA:missense mutation::p.R337H (human) RGD PMID:28387921 RGD:14995484 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
adrenal cortical adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma ClinVar PMID:23416519 NCBI chr 2:191,709,311...191,737,414
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma ClinVar PMID:23416519 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO mRNA:decreased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:108,653,385...108,660,062
Ensembl chr 7:106,718,274...106,779,278 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Adrenocortical adenoma ClinVar PMID:10647896 NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chr19:41,059,843...41,083,189
Ensembl chr19:24,155,090...24,178,430 		JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:235,636,885...235,726,198 		JBrowse link
adrenocortical carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12015757 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:15591283 PMID:18409179 PMID:23681356 PMID:28492532 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ameliorates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 exacerbates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380 		JBrowse link
G Birc6 baculoviral IAP repeat-containing 6 exacerbates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr 6:26,474,843...26,668,275
Ensembl chr 6:20,722,922...20,916,434 		JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ameliorates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:168,047,824...168,052,606 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23585556 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Bsg basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:9,993,170...10,000,387 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Adrenal cortex carcinoma ClinVar PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Daxx death-domain associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,970,092...4,975,843 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23585556 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407999 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21521927 PMID:23417626 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Men1 menin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22547773 NCBI chr 1:166,235,904...166,260,206
Ensembl chr 1:156,823,960...156,848,261 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:22156929 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23533247 NCBI chr10:84,441,954...84,473,093
Ensembl chr10:83,945,735...83,976,874 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma		 CTD
ClinVar		 PMID:1349102 PMID:1565143 PMID:1683921 PMID:1849234 PMID:1978757 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ameliorates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
G Znrf3 zinc and ring finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr14:84,375,668...84,527,465
Ensembl chr14:80,160,278...80,313,485 		JBrowse link
apparent mineralocorticoid excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO 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 | ClinVar Annotator: match by term: HSD11B2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3860318 PMID:7593456 PMID:7608290 PMID:7670488 PMID:9398712 More... NCBI chr19:50,307,569...50,312,812
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome		 CTD
ClinVar		 PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
Bartter disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO 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		 ClinVar
RGD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... RGD:1600603 NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO
ISS		 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 5:158,993,073...159,005,618
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome		 CTD
ClinVar		 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10561751 More... NCBI chr 8:39,014,822...39,066,716
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO 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... RGD:1624188 NCBI chr 3:132,859,581...132,936,354
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chr19:10,636,594...10,690,008
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
Bartter disease type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO
ISS		 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 3:132,859,581...132,936,354
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
Bartter disease type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO
ISS		 ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition
OMIM:241200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr 8:39,014,822...39,066,716
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 5:158,974,190...158,989,275
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO
ISS		 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 5:158,993,073...159,005,618
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 3:132,859,581...132,936,354
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO
ISS		 ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | 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 5:126,480,590...126,489,389
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO 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 5:158,974,190...158,989,275
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO 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 5:158,993,073...159,005,618
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: MAGED2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chr  X:23,160,928...23,364,994
Ensembl chr  X:19,733,597...19,740,477 		JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 5:158,993,073...159,005,618
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
Cushing Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr13:45,598,116...45,611,680
Ensembl chr13:43,046,267...43,057,792 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 IAGP DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism RGD PMID:12080446 RGD:1626491 NCBI chr10:27,311,965...27,327,337
Ensembl chr10:26,810,423...26,825,769 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Cushing syndrome ClinVar PMID:2109828 PMID:11784876 PMID:12970262 PMID:21525160 PMID:21713996 More... NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:decreased activity:blood, mononuclear leukocyte RGD PMID:19635986 PMID:10356629 PMID:10471508 RGD:7174715, RGD:7174723, RGD:7174722 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6088243 PMID:19153526 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:235,636,885...235,726,198 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15521956 PMID:29367455 PMID:12213893 RGD:1581269 NCBI chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Familial Hyperaldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Familial hyperaldosteronism ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:38,981,598...39,011,197
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
Familial Hyperaldosteronism, Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 susceptibility ISO 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:9536098 PMID:15505175 PMID:17576681 PMID:17762171 More... NCBI chr11:93,702,382...93,716,059
Ensembl chr11:80,198,153...80,211,657 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: Familial hyperaldosteronism type II ClinVar PMID:29403011 NCBI chr 9:4,916,958...5,010,359
Ensembl chr 9:4,680,920...4,753,251 		JBrowse link
Familial Hyperaldosteronism, Type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO 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 | ClinVar Annotator: match by term: KCNJ5-related condition OMIM
ClinVar		 PMID:20560207 PMID:21311022 PMID:22203740 PMID:22252394 PMID:22308486 More... NCBI chr 8:38,981,598...39,011,197
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
Familial Hyperaldosteronism, Type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1h calcium voltage-gated channel subunit alpha1 H susceptibility ISO ClinVar Annotator: match by term: ALDOSTERONISM, PRIMARY, AND HYPERTENSION | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV ClinVar
OMIM		 PMID:17696120 PMID:25741868 PMID:25907736 PMID:26467025 PMID:27148582 More... NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
glucocorticoid-remediable aldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO 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:1430088 PMID:1472060 PMID:1731223 PMID:2022736 PMID:3295546 More... NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism		 CTD
ClinVar		 PMID:1472060 PMID:1594605 PMID:1731223 PMID:8530633 PMID:8954040 More... NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism ClinVar PMID:1398286 PMID:1742490 PMID:3401592 PMID:12402333 PMID:16434382 More... NCBI chr 1:167,636,064...167,643,577
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
Hereditary Adrenocortical Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary ClinVar PMID:25741868 NCBI chr17:93,225,509...93,427,650
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary		 CTD
ClinVar
OMIM		 PMID:224644 PMID:253702 PMID:1200021 PMID:1349175 PMID:1394133 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
MIRAGE Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: MIRAGE syndrome | ClinVar Annotator: match by term: MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY OMIM
ClinVar		 PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 More... NCBI chr 4:32,119,318...32,139,008
Ensembl chr 4:31,164,510...31,184,322 		JBrowse link
Pediatric Adrenocortical Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: ADRENOCORTICAL CARCINOMA, PEDIATRIC ClinVar PMID:9582268 PMID:9704930 PMID:9704931 PMID:10864200 PMID:11481490 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Primary Aldosteronism, Seizures, and Neurologic Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 More... NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215 		JBrowse link
primary hyperaldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr 2:191,709,311...191,737,414
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001 NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215 		JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Hyperaldosteronism | ClinVar Annotator: match by term: Primary aldosteronism ClinVar PMID:25741868 PMID:25907736 PMID:28492532 NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:605635 | OMIM:613677		 CTD
MouseDO		 PMID:29403012 NCBI chr11:93,702,382...93,716,059
Ensembl chr11:80,198,153...80,211,657 		JBrowse link
G Cybb cytochrome b-245 beta chain IEP Protein:increased expression:heart ventricle RGD PMID:16373592 RGD:1599681 NCBI chr  X:16,030,596...16,065,065
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO DNA:gene fusion:intron:Cyp11b2 (human) RGD PMID:1731223 RGD:4891155 NCBI chr 7:108,653,385...108,660,062
Ensembl chr 7:106,718,274...106,779,278 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11085685 NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11085685 NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Drd2 dopamine receptor D2 ISS OMIM:605635 | OMIM:613677 MouseDO NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Cushing syndrome ClinVar PMID:2109828 PMID:11784876 PMID:12970262 PMID:21525160 PMID:21713996 More... NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISS OMIM:605635 | OMIM:613677 MouseDO NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Ren renin ISO protein:increased activity:blood plasma (human) RGD PMID:15080782 RGD:126908012 NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Serpina1 serpin family A member 1 IEP RGD PMID:15475529 RGD:1643158 NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
primary pigmented nodular adrenocortical disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISS OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 MouseDO NCBI chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
primary pigmented nodular adrenocortical disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 | 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 chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
primary pigmented nodular adrenocortical disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde11a phosphodiesterase 11A ISO 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 3:81,320,822...81,704,397
Ensembl chr 3:60,913,562...61,297,158 		JBrowse link
primary pigmented nodular adrenocortical disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: PDE8B-related condition | ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 3 OMIM
ClinVar		 PMID:18272904 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:28,009,841...28,244,050
Ensembl chr 2:26,276,635...26,509,209 		JBrowse link
primary pigmented nodular adrenocortical disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 4 OMIM
ClinVar		 PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271 PMID:25741868 NCBI chr19:41,059,843...41,083,189
Ensembl chr19:24,155,090...24,178,430 		JBrowse link
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
X-linked adrenal hypoplasia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Fthl17a ferritin, heavy polypeptide-like 17, member A ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:53,547,274...53,548,251
Ensembl chr  X:49,595,718...49,596,266 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:54,106,708...54,189,940
Ensembl chr  X:50,163,123...50,238,631 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:55,322,779...56,827,486
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
G Mageb1 MAGE family member B1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:54,866,557...54,872,631 JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:54,778,318...54,784,040
Ensembl chr  X:50,827,563...50,833,151 		JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:54,816,254...54,817,249
Ensembl chr  X:50,865,484...50,866,479 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO
ISS		 ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked
OMIM:300200		 OMIM
ClinVar
MouseDO		 PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 More... NCBI chr  X:54,707,658...54,711,786
Ensembl chr  X:50,756,886...50,761,011 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:53,923,473...53,995,777
Ensembl chr  X:49,972,330...50,042,056 		JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar PMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532 NCBI chr  X:54,354,755...54,373,930
Ensembl chr  X:50,361,248...50,423,269 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      endocrine system disease 7042
        adrenal gland disease 279
          adrenal cortex disease 86
            Adrenal Cortex Neoplasms + 37
            Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 0
            Nelson syndrome 0
            adrenal cortical hypofunction + 18
            adrenal gland hyperfunction + 37
            primary pigmented nodular adrenocortical disease + 4
paths to the root