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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 gland hyperfunction
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Accession:DOID:3947 term browser browse the term
Definition:Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM.
Synonyms:exact_synonym: Hyperadrenalism;   Hyperadrenocorticism;   adrenocortical hyperfunction;   hypercorticism;   hypercortisolism
 primary_id: MESH:D000308
 xref: NCI:C113208
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
adrenal gland hyperfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Hyperadrenocorticism ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
ACTH-independent macronodular adrenal hyperplasia term browser
Symbol Object Name 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:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
ACTH-independent macronodular adrenal hyperplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427
JBrowse link
G Gcgr glucagon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20529775 NCBI chr10:109,707,863...109,716,253
Ensembl chr10:109,707,962...109,716,128
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA
DNA:missense mutations:exon:p.R201S, p.R201H (human)
ClinVar Annotator: match by OMIM:219080
OMIM
ClinVar
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011, PMID:12727968 RGD:11568052 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
ACTH-independent macronodular adrenal hyperplasia 2 term browser
Symbol Object Name 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 OMIM
ClinVar
PMID:24283224 PMID:24601692 PMID:24905064 NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427
JBrowse link
apparent mineralocorticoid excess syndrome term browser
Symbol Object Name 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:218030
OMIM
ClinVar
CTD
PMID:3860318 PMID:7593417 PMID:7593456 PMID:7608290 PMID:7670488 PMID:9398712 PMID:9683587 PMID:9683905 PMID:9707624 PMID:9851783 PMID:10536001 PMID:11085685 PMID:11238516 PMID:12788846 PMID:15126515 PMID:15134813 PMID:17314322 PMID:19075542 PMID:24123366 PMID:25526675 PMID:25593612 PMID:25741868 PMID:26467025 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25741868 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
Bartter disease term browser
Symbol Object Name 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 PMID:11687798 PMID:16583241 PMID:16773427 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:23967202 PMID:24033266 PMID:24902942 PMID:25741868 PMID:26467025 PMID:28012523 PMID:28492532 PMID:29254190 PMID:30174009, PMID:11687798 RGD:1600603 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10561751 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
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
CTD
ClinVar
PMID:10561751 PMID:12911542 PMID:16982955 PMID:22275899 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
CTD Direct Evidence: marker/mechanism
CTD PMID:10561751, PMID:8640224 RGD:1624188 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link
Bartter disease type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Hyperprostaglandin E syndrome 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal
ClinVar Annotator: match by OMIM:601678
OMIM
ClinVar
PMID:8640224 PMID:9355073 PMID:9585600 PMID:12761241 PMID:15167446 PMID:18391953 PMID:19096086 PMID:19513753 PMID:19602640 PMID:20219833 PMID:21157372 PMID:21209010 PMID:23897314 PMID:24033266 PMID:24253496 PMID:24550759 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26963954 PMID:28000888 PMID:28095294 PMID:28492532 PMID:28893421 PMID:30113482 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link
Bartter disease type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal
ClinVar Annotator: match by OMIM:241200
OMIM
ClinVar
PMID:8841184 PMID:9002665 PMID:9015377 PMID:9580661 PMID:9727001 PMID:10049979 PMID:11318951 PMID:12911542 PMID:18391953 PMID:19096086 PMID:19602640 PMID:20699659 PMID:22245519 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32590952 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:25741868 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome type 3
ClinVar Annotator: match by OMIM:607364
OMIM
ClinVar
PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 PMID:17185149 PMID:21631963 PMID:23991001 PMID:24033266 PMID:24058621 PMID:24830959 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25810436 PMID:26467025 PMID:28288174 PMID:28555925 PMID:32576985 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Bartter disease type 4a
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:602522
OMIM
ClinVar
PMID:9463315 PMID:11687798 PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16583241 PMID:16773427 PMID:16935888 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:23967202 PMID:24033266 PMID:24902942 PMID:25741868 PMID:26467025 PMID:26537508 PMID:28012523 PMID:28492532 PMID:29254190 PMID:30174009 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by OMIM:613090
ClinVar Annotator: match by term: Bartter syndrome, type 4b
ClinVar
OMIM
PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO OMIM NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient ClinVar
OMIM
PMID:27120771 NCBI chr 5:33,174,539...33,182,715
Ensembl chr 5:33,174,542...33,182,715
JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria
ClinVar PMID:15531551 PMID:16902263 PMID:20810575 PMID:26920127 PMID:28492532 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
Cushing Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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 chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Cushing's syndrome ClinVar PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
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 chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6088243 PMID:19153526 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 PMID:29367455, PMID:12213893 RGD:1581269 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
Familial Hyperaldosteronism term browser
Symbol Object Name 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:28492532 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
Familial Hyperaldosteronism, Type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Hyperaldosteronism, familial, type II
ClinVar Annotator: match by term: FH II
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:19191339 PMID:19861545 PMID:23542698 PMID:25741868 PMID:25907736 PMID:29403011 PMID:29403012 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
Familial Hyperaldosteronism, Type III term browser
Symbol Object Name 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: HYPERALDOSTERONISM, FAMILIAL, TYPE III
ClinVar Annotator: match by OMIM:613677
OMIM
ClinVar
PMID:20560207 PMID:21311022 PMID:22203740 PMID:22252394 PMID:22308486 PMID:22628607 PMID:23829355 PMID:24037882 PMID:24420545 PMID:24574546 PMID:24819081 PMID:25057880 PMID:25741868 PMID:28492532 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
Familial Hyperaldosteronism, Type IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV
ClinVar Annotator: match by term: ALDOSTERONISM, PRIMARY, AND HYPERTENSION
ClinVar
OMIM
PMID:15048902 PMID:15852375 PMID:17696120 PMID:25907736 PMID:26467025 PMID:28492532 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
glucocorticoid-remediable aldosteronism term browser
Symbol Object Name 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: Hyperaldosteronism, familial, type I
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
OMIM
ClinVar
CTD
PMID:1472060 PMID:1731223 PMID:2022736 PMID:7049883 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9435454 PMID:9546661 PMID:11549691 PMID:12452430 PMID:12966519 PMID:15026188 PMID:15062555 PMID:15751602 PMID:16030166 PMID:16984984 PMID:17371482 PMID:17692261 PMID:19820005 PMID:20024693 PMID:20089618 PMID:22465514 PMID:22964742 PMID:23345044 PMID:24022297 PMID:24033266 PMID:24536089 PMID:25741868 PMID:26300845 PMID:26467025 PMID:26956189 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1472060 PMID:1594605 PMID:1731223 PMID:8530633 PMID:8954040 PMID:9703385 PMID:9814506 PMID:10965212 PMID:11174838 PMID:11549691 PMID:16118341 PMID:18710464 PMID:22465514 PMID:22931312 PMID:24033266 PMID:25102047 PMID:28492532 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
Primary Aldosteronism, Seizures, and Neurologic Abnormalities term browser
Symbol Object Name 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: Primary aldosteronism, seizures, and neurologic abnormalities
ClinVar Annotator: match by OMIM:615474
OMIM
ClinVar
PMID:23913001 PMID:25741868 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
primary hyperaldosteronism term browser
Symbol Object Name 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 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Primary hyperaldosteronism
ClinVar Annotator: match by term: Hyperaldosteronism
ClinVar PMID:25741868 PMID:25907736 PMID:28492532 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403012 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
JBrowse link
G Crh corticotropin releasing hormone ISS OMIM:605635 | OMIM:613677 MouseDO NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Cybb cytochrome b-245 beta chain IEP Protein:increased expression:heart ventricle RGD PMID:16373592 RGD:1599681 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO DNA:gene fusion:intron:Cyp11b2 (human) RGD PMID:1731223 RGD:4891155
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11085685 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11085685 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Drd2 dopamine receptor D2 ISS OMIM:605635 | OMIM:613677 MouseDO NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Cushing's syndrome ClinVar PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISS OMIM:605635 | OMIM:613677 MouseDO NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISS OMIM:605635 | OMIM:613677 MouseDO NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Serpina1 serpin family A member 1 IEP RGD PMID:15475529 RGD:1643158 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction
ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
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Term paths to the root
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  disease 16122
    disease of anatomical entity 15369
      endocrine system disease 5011
        adrenal gland disease 171
          adrenal cortex disease 76
            adrenal gland hyperfunction 32
              Cushing Syndrome + 10
              Familial Hypersecretion of Adrenal Androgens 0
              apparent mineralocorticoid excess syndrome 2
              primary hyperaldosteronism + 26
paths to the root