Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 Insufficiency
go back to main search page
Accession:DOID:9008622 term browser browse the term
Definition:Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.
Synonyms:exact_synonym: Adrenal Gland Hypofunction;   Adrenal Insufficiencies;   Hypoadrenalism
 narrow_synonym: ADRENAL INSUFFICIENCY, NR5A1-RELATED
 primary_id: MESH:D000309;   RDO:0000918

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Adrenal Insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAX BCL2 associated X, apoptosis regulator ISO associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex RGD PMID:21161352 RGD:6482719 NCBI chr 6:42,186,028...42,193,105 JBrowse link
G BCL2 BCL2 apoptosis regulator ISO associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex RGD PMID:21161352 RGD:6482719 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr26:9,122,008...9,151,844 JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369247 NCBI chr12:13,640,453...13,666,748
Ensembl chr12:13,640,473...13,666,863 		JBrowse link
G PLA2G2A phospholipase A2 group IIA ISO associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal gland RGD PMID:21161352 RGD:6482719 NCBI chr20:112,564,414...112,569,735
Ensembl chr20:112,565,165...112,569,786 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X RGD PMID:7954808 RGD:1624136 NCBI chr 5:21,021,181...21,107,746
Ensembl chr 5:21,022,133...21,107,824 		JBrowse link
G TBX19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Adrenal insufficiency ClinVar NCBI chr25:60,732,455...60,803,194
Ensembl chr25:60,730,901...60,764,487 		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:128,152,697...128,171,007 JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs8048002T>C		 CTD
RGD		 PMID:18593762 RGD:5491177 NCBI chr 5:10,341,690...10,401,988
Ensembl chr 5:10,372,344...10,400,451 		JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs12917716C		 CTD
RGD		 PMID:18593762 RGD:5491177 NCBI chr 5:10,420,866...10,658,370
Ensembl chr 5:10,420,931...10,658,507 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827 		JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPE65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More... NCBI chr20:64,662,777...64,684,178
Ensembl chr20:64,664,358...64,683,211 		JBrowse link
G TBX19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: ACTH deficiency | ClinVar Annotator: match by term: TBX19-related condition OMIM
ClinVar		 PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More... NCBI chr25:60,732,455...60,803,194
Ensembl chr25:60,730,901...60,764,487 		JBrowse link
adrenoleukodystrophy 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 susceptibility ISO ClinVar Annotator: match by term: ABCD1-related condition | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy OMIM
ClinVar
RGD		 PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 More... RGD:1598655 NCBI chr  X:128,152,697...128,171,007 JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 ISO RGD PMID:15800013 RGD:11065111 NCBI chr26:5,117,740...5,183,164
Ensembl chr26:5,117,818...5,185,418 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,966,366...128,013,900
Ensembl chr  X:127,966,492...128,013,901 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...
G AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,328,728...128,331,482
Ensembl chr  X:128,329,449...128,331,019 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,128,739...128,152,617
Ensembl chr  X:128,128,271...128,151,823 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,926,018...127,940,485
Ensembl chr  X:127,926,009...127,941,164 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,358,759...129,406,293
Ensembl chr  X:129,358,862...129,403,352 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,018,651...128,030,122
Ensembl chr  X:128,019,090...128,030,083 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,564,187...129,606,324
Ensembl chr  X:129,560,658...129,606,438 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,348,831...129,358,601
Ensembl chr  X:129,349,054...129,351,326 		JBrowse link
G CTAG1A cancer/testis antigen 1A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,825,269...128,827,442
Ensembl chr  X:128,825,844...128,827,287 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:129,015,883...129,029,741
Ensembl chr  X:129,016,046...129,030,001 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,073,548...128,083,169
Ensembl chr  X:128,079,403...128,083,212 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,689,588...128,692,105
Ensembl chr  X:128,689,588...128,692,625 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,090,140...129,315,343
Ensembl chr  X:129,088,611...129,312,909 		JBrowse link
G F8A1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,131,267...129,133,575 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,744,577...128,759,246
Ensembl chr  X:128,744,458...128,759,202 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...
G FLNA filamin A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,315,315...129,342,395
Ensembl chr  X:129,315,465...129,342,193 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,904,743...129,004,596
Ensembl chr  X:128,902,420...128,973,550 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,882,121...127,930,089
Ensembl chr  X:127,878,900...127,902,344 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,371,518...128,395,920
Ensembl chr  X:128,371,517...128,394,861 		JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,212,660...128,221,637 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,781,975...128,816,039
Ensembl chr  X:128,787,785...128,806,083 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,433,462...128,443,126
Ensembl chr  X:128,433,465...128,443,043 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,285,128...128,309,173
Ensembl chr  X:128,285,130...128,299,570 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,725,788...128,727,565 JBrowse link
G LOC103232819 testis-specific protein TEX28 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,583,639...128,607,682
Ensembl chr  X:128,583,880...128,601,402 		JBrowse link
G LOC103232838 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,864,043...128,868,405 JBrowse link
G LOC103232850 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,130,005...129,131,069 JBrowse link
G MAGEA1 MAGE family member A1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,660,892...127,662,685
Ensembl chr  X:127,661,484...127,662,410 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,445,028...128,519,892
Ensembl chr  X:128,453,577...128,455,785 		JBrowse link
G MMP10 matrix metallopeptidase 10 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 1:94,147,995...94,158,315
Ensembl chr 1:94,148,087...94,158,097 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,030,736...129,057,952
Ensembl chr  X:129,030,735...129,044,777 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,351,336...129,358,601
Ensembl chr  X:129,352,805...129,353,322 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,353,262...128,359,222
Ensembl chr  X:128,352,634...128,359,085 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,342,788...127,389,117
Ensembl chr  X:127,342,850...127,390,536 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,229,495...128,255,341
Ensembl chr  X:128,229,300...128,255,312 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10441568 NCBI chr14:45,939,181...45,973,049
Ensembl chr14:45,938,940...45,973,125 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,706,354...128,721,971
Ensembl chr  X:128,708,424...128,721,971 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,191,297...128,207,456
Ensembl chr  X:128,191,332...128,206,194 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,099,736...128,104,348
Ensembl chr  X:128,099,682...128,103,121 		JBrowse link
G PNMA3 PNMA family member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,546,571...127,550,588
Ensembl chr  X:127,547,198...127,548,589 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,511,081...127,517,052
Ensembl chr  X:127,512,502...127,513,848 		JBrowse link
G PNMA6E PNMA family member 6E ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,536,528...129,542,238
Ensembl chr  X:129,536,347...129,542,075 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,359,313...128,369,070
Ensembl chr  X:128,359,396...128,368,581 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,736,793...128,741,400
Ensembl chr  X:128,736,991...128,738,424 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,116,490...128,124,899
Ensembl chr  X:128,116,944...128,124,918 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,077,982...129,086,461
Ensembl chr  X:129,078,394...129,084,273 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16319717 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,207,636...128,212,624
Ensembl chr  X:128,207,989...128,212,410 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,221,671...128,225,628
Ensembl chr  X:128,221,443...128,225,873 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More...
G TIMP1 TIMP metallopeptidase inhibitor 1 severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:23185624 RGD:13204814
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,607,766...128,642,074
Ensembl chr  X:128,607,901...128,642,063 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,396,566...128,406,611
Ensembl chr  X:128,405,488...128,406,273 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,628,788...129,729,616
Ensembl chr  X:129,626,286...129,729,592 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,878,891...127,882,019 JBrowse link
G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:128,733,219...128,736,150
Ensembl chr  X:128,732,876...128,736,077 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,487,543...129,510,301 JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,844,834...127,858,722
Ensembl chr  X:127,851,738...127,859,858 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,418,209...127,493,217 JBrowse link
congenital adrenal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: CYP11A1-related condition | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY OMIM
ClinVar		 PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 More... NCBI chr26:9,122,008...9,151,844 JBrowse link
glucocorticoid deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MC2R melanocortin 2 receptor ISO ClinVar Annotator: match by term: ACTH resistance | ClinVar Annotator: match by term: Glucocorticoid deficiency 1 OMIM
ClinVar		 PMID:7829641 PMID:8069303 PMID:8094489 PMID:8227361 PMID:8250922 More... NCBI chr18:72,286,380...72,296,607
Ensembl chr18:72,288,224...72,289,105 		JBrowse link
G MRAP melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 1 ClinVar PMID:15654338 PMID:24033266 PMID:25741868 NCBI chr 2:59,815,547...59,834,674
Ensembl chr 2:59,814,095...59,834,610 		JBrowse link
G NNT nicotinamide nucleotide transhydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22634753 NCBI chr 4:42,377,979...42,476,247
Ensembl chr 4:42,384,435...42,477,002 		JBrowse link
Glucocorticoid Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRAP melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition OMIM
ClinVar		 PMID:15654338 PMID:16868047 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:59,815,547...59,834,674
Ensembl chr 2:59,814,095...59,834,610 		JBrowse link
G URB1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,733,260...59,811,990
Ensembl chr 2:59,733,902...59,814,018 		JBrowse link
Glucocorticoid Deficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NNT nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 4 | ClinVar Annotator: match by term: NNT-related condition OMIM
ClinVar		 PMID:22634753 PMID:23474776 PMID:25741868 PMID:26070314 PMID:26548497 More... NCBI chr 4:42,377,979...42,476,247
Ensembl chr 4:42,384,435...42,477,002 		JBrowse link
Glucocorticoid Deficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 5 | ClinVar Annotator: match by term: TXNRD2-related condition OMIM
ClinVar		 PMID:16199547 PMID:21247928 PMID:24601690 PMID:25741868 PMID:26300845 More... NCBI chr19:5,803,178...5,868,224
Ensembl chr19:5,813,099...5,866,674 		JBrowse link
Hypoaldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHCG Rh family C glycoprotein treatment ISO RGD PMID:21415155 RGD:9850160 NCBI chr29:8,015,391...8,040,811
Ensembl chr29:8,015,620...8,040,486 		JBrowse link
IMAGe syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1C cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies OMIM
ClinVar		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chr 1:2,696,382...2,699,054
Ensembl chr 1:2,696,233...2,699,028 		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 chr21:55,895,799...55,913,845
Ensembl chr21:55,907,249...55,912,015 		JBrowse link
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX1 acyl-CoA oxidase 1 ISO 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
ClinVar		 PMID:2894756 PMID:8040306 PMID:8279468 PMID:9536098 PMID:11815777 More... NCBI chr16:45,706,009...45,745,564
Ensembl chr16:45,706,360...45,740,247 		JBrowse link
G FBF1 Fas binding factor 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr16:45,746,009...45,781,766
Ensembl chr16:45,747,250...45,785,877 		JBrowse link
G GALK1 galactokinase 1 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr16:45,919,316...45,926,423
Ensembl chr16:45,919,402...45,926,304 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr16:45,926,543...45,962,967 JBrowse link
G LOC103243033 histone H3.3A ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr16:45,903,252...45,905,605
Ensembl chr16:45,902,980...45,904,929 		JBrowse link
G MRPL38 mitochondrial ribosomal protein L38 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr16:45,788,374...45,790,155 JBrowse link
G TEN1 TEN1 subunit of CST complex ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:8040306 PMID:17458872 PMID:25741868 PMID:28492532 NCBI chr16:45,686,946...45,706,185 JBrowse link
G TRIM47 tripartite motif containing 47 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr16:45,806,945...45,811,468
Ensembl chr16:45,806,991...45,811,469 		JBrowse link
G TRIM65 tripartite motif containing 65 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr16:45,790,271...45,798,852
Ensembl chr16:45,791,865...45,797,952 		JBrowse link
G UNC13D unc-13 homolog D ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr16:45,836,659...45,856,805
Ensembl chr16:45,838,175...45,857,201 		JBrowse link
G UNK unk zinc finger ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr16:45,858,198...45,899,367
Ensembl chr16:45,857,376...45,899,313 		JBrowse link
G WBP2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar PMID:28492532 NCBI chr16:45,821,875...45,836,558
Ensembl chr16:45,821,967...45,835,530 		JBrowse link
peroxisome biogenesis disorder 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,638,320...8,695,696
Ensembl chr11:8,638,826...8,693,355 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:25741868 NCBI chr  X:128,152,697...128,171,007 JBrowse link
G ACRBP acrosin binding protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,672,093...6,681,493
Ensembl chr11:6,672,312...6,681,198 		JBrowse link
G ACSM4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,319,468...7,345,076
Ensembl chr11:7,320,091...7,344,563 		JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,696,571...7,700,424
Ensembl chr11:7,696,259...7,700,643 		JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,959,568...6,973,341
Ensembl chr11:6,964,784...6,972,801 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,115,964...7,134,612
Ensembl chr11:7,125,367...7,134,758 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,163,126...7,178,544
Ensembl chr11:7,162,292...7,177,324 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,106,769...7,115,055
Ensembl chr11:7,139,115...7,148,056
Ensembl chr11:7,139,115...7,148,056 		JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,128,192...8,135,517
Ensembl chr11:8,128,620...8,130,062 		JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295 		JBrowse link
G CD163L1 CD163 molecule like 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,397,421...7,472,069
Ensembl chr11:7,411,406...7,471,764 		JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,493,414...6,500,062
Ensembl chr11:6,493,542...6,499,738 		JBrowse link
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,824,797...6,856,440
Ensembl chr11:6,825,245...6,853,852 		JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,882,125...6,885,311
Ensembl chr11:6,881,504...6,885,118 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,603,820...6,641,278
Ensembl chr11:6,602,694...6,640,351 		JBrowse link
G CLEC4A C-type lectin domain family 4 member A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,190,312...8,207,451
Ensembl chr11:8,190,370...8,207,438 		JBrowse link
G CLEC4C C-type lectin domain family 4 member C ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,763,993...7,777,474 JBrowse link
G CLEC4D C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,294,999...8,303,866 JBrowse link
G CLEC4E C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,315,888...8,322,240
Ensembl chr11:8,316,049...8,321,274 		JBrowse link
G CLEC6A C-type lectin domain containing 6A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,227,590...8,250,857
Ensembl chr11:8,228,381...8,253,159 		JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,197,725...7,226,479
Ensembl chr11:7,197,539...7,226,651 		JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,754,671...6,762,169
Ensembl chr11:6,754,688...6,762,835 		JBrowse link
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:6,974,741...6,976,922
Ensembl chr11:6,974,953...6,976,921 		JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,743,045...7,751,285 JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,004,507...7,009,702
Ensembl chr11:7,004,645...7,009,527 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,945,243...6,954,959
Ensembl chr11:6,945,413...6,957,304 		JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,101,982...8,125,764
Ensembl chr11:8,109,340...8,125,743 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,569,029...6,572,877 JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,727,818...7,733,514
Ensembl chr11:7,727,913...7,733,075 		JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,873,043...6,880,676
Ensembl chr11:6,874,351...6,880,179 		JBrowse link
G GPR162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,854,620...6,860,322
Ensembl chr11:6,856,797...6,860,104 		JBrowse link
G IFFO1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,573,998...6,589,493
Ensembl chr11:6,573,684...6,589,570 		JBrowse link
G ING4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,683,994...6,696,888
Ensembl chr11:6,684,897...6,696,852 		JBrowse link
G LAG3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,809,381...6,815,390
Ensembl chr11:6,809,584...6,815,325 		JBrowse link
G LOC103215310 putative protein FAM90A5P ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr 8:7,022,338...7,025,445 JBrowse link
G LPAR5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,653,348...6,671,427
Ensembl chr11:6,653,445...6,654,560 		JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,009,911...7,051,391
Ensembl chr11:7,005,701...7,051,605 		JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,922,612...6,946,786
Ensembl chr11:6,935,831...6,945,300 		JBrowse link
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,425,223...6,431,881
Ensembl chr11:6,425,324...6,433,583 		JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,470,233...8,485,537
Ensembl chr11:8,468,307...8,485,493 		JBrowse link
G MLF2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,784,182...6,789,289
Ensembl chr11:6,783,437...6,789,622 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,532,418...6,534,101
Ensembl chr11:6,532,431...6,533,536 		JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,813,309...7,820,009 JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,534,243...6,566,515
Ensembl chr11:6,535,282...6,566,546 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,155,432...8,170,873
Ensembl chr11:8,154,976...8,171,025 		JBrowse link
G NOP2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,590,518...6,601,981
Ensembl chr11:6,590,642...6,601,552 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,861,123...6,872,934
Ensembl chr11:6,860,891...6,872,549 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B OMIM
ClinVar		 PMID:7719337 PMID:9536098 PMID:10462504 PMID:16199547 PMID:17532062 More... NCBI chr11:7,255,078...7,286,500
Ensembl chr11:7,256,182...7,274,938 		JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:6,998,517...7,004,437 JBrowse link
G PIANP PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,727,379...6,736,552
Ensembl chr11:6,728,535...6,736,101 		JBrowse link
G PTMS parathymosin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,803,143...6,807,896 JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:6,977,480...6,994,525
Ensembl chr11:6,984,710...6,994,545 		JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:7,191,199...7,196,519
Ensembl chr11:7,191,636...7,196,365 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,521,612...8,608,928
Ensembl chr11:8,524,187...8,602,622 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,384,073...6,418,620
Ensembl chr11:6,383,956...6,416,337 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:18712838 PMID:21031596 PMID:24399846 PMID:28492532 PMID:30626896 NCBI chr11:8,004,861...8,023,023 JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,500,157...6,510,777
Ensembl chr11:6,499,614...6,515,027 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,900,762...6,904,188
Ensembl chr11:6,900,787...6,906,787 		JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,885,401...6,899,983
Ensembl chr11:6,885,311...6,898,442 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,510,717...6,520,429 JBrowse link
G ZNF384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B ClinVar PMID:28492532 NCBI chr11:6,699,988...6,725,282
Ensembl chr11:6,697,989...6,713,322 		JBrowse link
Proopiomelanocortin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin ISO 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 OMIM
ClinVar		 PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 More... NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
triple-A syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: AAAS-related condition | ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia OMIM
ClinVar		 PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More... NCBI chr11:49,424,469...49,432,082 JBrowse link
G MYG1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia ClinVar NCBI chr11:49,403,574...49,424,193 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:29,543,003...32,218,011 JBrowse link
G FTHL17 ferritin heavy chain like 17 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:29,502,329...29,503,211
Ensembl chr  X:29,502,489...29,503,040 		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:29,043,390...29,119,516
Ensembl chr  X:29,043,571...29,118,646 		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:27,014,769...28,388,176 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:28,647,830...28,654,512
Ensembl chr  X:28,652,957...28,654,000 		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:28,619,651...28,624,412
Ensembl chr  X:28,622,915...28,623,862 		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:28,635,826...28,641,082
Ensembl chr  X:28,638,431...28,639,471 		JBrowse link
G MAGEB4 MAGE family member B4 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:28,643,775...28,646,538
Ensembl chr  X:28,644,475...28,645,518 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 ISO ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked OMIM
ClinVar		 PMID:6891556 PMID:7609262 PMID:7990953 PMID:7990958 PMID:8636263 More... NCBI chr  X:28,707,698...28,713,158
Ensembl chr  X:28,707,699...28,712,708 		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:29,256,176...29,318,129
Ensembl chr  X:29,256,104...29,288,960 		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:28,953,805...28,973,055
Ensembl chr  X:28,954,266...28,955,171 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      endocrine system disease 6093
        adrenal gland disease 269
          Adrenal Insufficiency 184
            Addison's disease + 5
            Adrenomyodystrophy 0
            Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone 0
            Glucocorticoid Deficiency 2 2
            Glucocorticoid Deficiency 3 0
            Glucocorticoid Deficiency 4 1
            Glucocorticoid Deficiency 5 2
            Hypoaldosteronism + 1
            IMAGe syndrome 1
            Proopiomelanocortin Deficiency 1
            Waterhouse-Friderichsen syndrome + 0
            X-linked adrenal hypoplasia congenita 11
            adrenal cortical hypofunction + 16
            adrenocorticotropic hormone deficiency 2
            adrenoleukodystrophy + 150
            congenital adrenal insufficiency 1
            glucocorticoid deficiency 1 3
            triple-A syndrome 2
paths to the root