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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:Atrophy
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Accession:DOID:9004462 term browser browse the term
Definition:Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
Synonyms:exact_synonym: Atrophies
 primary_id: MESH:D001284;   RDO:0004942
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7826670 PMID:20961953 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23789114 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21536718 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20961953 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Eno2 enolase 2 severity ISO associated with Alzheimer Disease RGD PMID:20105309 RGD:5508787 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO Kindler syndrome, OMIM:173650 RGD PMID:12668616 RGD:1600405 NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:7637259 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16391472 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16391472 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22575539 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16391472 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Trim63 tripartite motif containing 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19168726 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833 PMID:25741868 PMID:30006060 PMID:32860008 NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: Mental retardation and muscular atrophy
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar Annotator: match by OMIM:300523
OMIM
ClinVar
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15889350 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
JBrowse link
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbcd tubulin folding cofactor D ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:25741868 PMID:27666370 PMID:27666374 PMID:28492532 PMID:31240573 More... NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
JBrowse link
Facial Dysmorphism with Multiple Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy
ClinVar Annotator: match by OMIM:613668
OMIM
ClinVar
PMID:18414213 PMID:20950787 PMID:25741868 PMID:28492532 NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592
JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO ClinVar Annotator: match by term: MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B
ClinVar Annotator: match by OMIM:611369
OMIM
ClinVar
PMID:17701898 PMID:25741868 NCBI chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988
JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Miles-Carpenter syndrome
ClinVar Annotator: match by term: Wieacker Wolff syndrome
ClinVar Annotator: match by term: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
ClinVar Annotator: match by term: Wieacker syndrome
CTD
ClinVar
OMIM
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link
Miyoshi muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Miyoshi myopathy ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by OMIM:254130
ClinVar Annotator: match by term: Miyoshi muscular dystrophy
ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive
ClinVar Annotator: match by term: Miyoshi myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
JBrowse link
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dysf dysferlin ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 ClinVar
OMIM
PMID:2764718 PMID:8808603 PMID:9731526 PMID:10196377 PMID:11053681 More... NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 ClinVar PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:25326637 More... NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
JBrowse link
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3
ClinVar Annotator: match by term: Miyoshi myopathy 3
DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9673985 PMID:17132147 PMID:18414213 PMID:20096397 PMID:21186264 More... RGD:11570558 NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
JBrowse link
muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IEP mRNA:decreased expression:skeletal muscle tissue RGD PMID:17029665 RGD:2325745 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO RGD PMID:23792145 RGD:10059412 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:25741868 PMID:31227654 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G Cfl1 cofilin 1 IEP protein:decreased phosphorylation:gastrocnemius (rat) RGD PMID:24711688 RGD:11570530 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex treatment IMP RGD PMID:18827022 RGD:7495773 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19032942 NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP RGD PMID:17916675 RGD:7257536 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IDA RGD PMID:21235761 RGD:5130936 NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:soleus (rat) RGD PMID:16928772 RGD:2315576 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Dag1 dystroglycan 1 IEP protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Dmd dystrophin IEP RGD PMID:12107060 RGD:625642 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Endog endonuclease G IEP RGD PMID:15650125 RGD:9685359 NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932
JBrowse link
G Fbxo32 F-box protein 32 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:21139329 PMID:11679633 RGD:633893 NCBI chr 7:89,731,626...89,764,761
Ensembl chr 7:89,730,232...89,765,436
JBrowse link
G Fst follistatin ISO CTD Direct Evidence: therapeutic CTD PMID:33034787 NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:8937196 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Ghr growth hormone receptor IEP mRNA:increased expression:soleus RGD PMID:12865352 RGD:2307376 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA RGD PMID:21983076 RGD:10402941 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 IEP mRNA:decreased expression:soleus muscle (rat) RGD PMID:21639837 RGD:5686383 NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment IMP RGD PMID:18827022 RGD:7495773 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16723379 NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Kif16b kinesin family member 16B ISO ClinVar Annotator: match by term: Neurogenic muscular atrophy ClinVar PMID:25741868 NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019
JBrowse link
G Mstn myostatin IEP associated with Addison's Disease
mRNA, protein:altered expression:skeletal muscle
RGD PMID:15738643 PMID:15758361 RGD:2303596, RGD:2303594 NCBI chr 9:48,453,982...48,458,809
Ensembl chr 9:48,452,533...48,458,933
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr19:10,826,032...10,827,048 JBrowse link
G Mtmr4 myotubularin related protein 4 IEP protein:decreased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:19260063 RGD:10041027 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase IEP protein:increased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP protein:altered expression:nucleus RGD PMID:17622304 RGD:4892297 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit IDA protein:decreased localization:soleus, nucleus RGD PMID:11919155 RGD:7777164 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:decreased expression, decreased phosphorylation:soleus RGD PMID:17885021 RGD:1642984 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:muscle RGD PMID:19574431 RGD:4144861 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sgca sarcoglycan, alpha IEP protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24163136 PMID:29374221 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Tfrc transferrin receptor IEP mRNA:decreased expression:gastrocnemius RGD PMID:18395385 RGD:2292027 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 IEP associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:14718385 RGD:1641826 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
JBrowse link
G Timm23 translocase of inner mitochondrial membrane 23 IEP RGD PMID:20943961 RGD:13463487 NCBI chr16:7,410,308...7,436,392
Ensembl chr16:7,409,688...7,436,379
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24534773 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 IEP RGD PMID:20943961 RGD:13463487 NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198
JBrowse link
G Trim63 tripartite motif containing 63 IEP
ISO
mRNA:increased expression:gastrocnemius
CTD Direct Evidence: marker/mechanism
CTD PMID:21139329 PMID:11679633 RGD:633893 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Ucp3 uncoupling protein 3 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24550007 NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY ClinVar
OMIM
PMID:32103185 NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc7 exocyst complex component 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ClinVar
OMIM
PMID:32103185 NCBI chr10:101,521,640...101,563,123
Ensembl chr10:101,520,927...101,540,561
JBrowse link
Primrose Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primrose syndrome
CTD
ClinVar
OMIM
PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28492532 More... NCBI chr11:57,052,129...57,823,679
Ensembl chr11:57,072,880...57,510,210
JBrowse link
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
JBrowse link
Sarcopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 severity IEP RNA:increased expression:plantaris muscle: RGD PMID:17029665 RGD:2325745 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Ak1 adenylate kinase 1 IEP protein:increased expression:gastrocnemius muscle (rat) RGD PMID:17611631 RGD:5147990 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Ar androgen receptor treatment ISO
IDA
RGD PMID:24177288 PMID:17049844 RGD:10043306, RGD:10043311 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
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G Atp5f1a ATP synthase F1 subunit alpha IEP protein:increased localization:gastrocnemius (rat) RGD PMID:20850499 RGD:13703063 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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G Bax BCL2 associated X, apoptosis regulator IEP mRNA:decreased expression:plantaris RGD PMID:17029665 RGD:2325745 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:decreased expression:plantaris RGD PMID:17029665 RGD:2325745 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Cav1 caveolin 1 severity ISO DNA:SNP:intron:14713G>A (rs3807987) (human) RGD PMID:24815842 RGD:10045568 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment ISO RGD PMID:20022929 RGD:10043356 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO protein:increased expression:thigh muscle (mouse) RGD PMID:21982926 RGD:10401269 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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G Cebpb CCAAT/enhancer binding protein beta ISO mRNA:increased expression:vastus lateralis muscle (human) RGD PMID:15687482 RGD:10401226 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon IDA RGD PMID:15187001 RGD:10395315 NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha IEP RGD PMID:15187001 RGD:10395315 NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225
JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr12:19,708,558...19,723,392
Ensembl chr12:19,708,558...19,723,377
JBrowse link
G Foxo4 forkhead box O4 IEP RGD PMID:16870627 RGD:10402356 NCBI chr  X:66,385,241...66,392,115
Ensembl chr  X:66,385,558...66,392,115
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:12919235 RGD:10045859 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:12919235 RGD:10045859 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mfn2 mitofusin 2 IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Nfkbia NFKB inhibitor alpha IEP protein:increased expression:soleus RGD PMID:15665035 RGD:10413861 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:altered expression:gastrocnemius muscle (rat) RGD PMID:16870628 RGD:10053649 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054
JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted
ClinVar
OMIM
PMID:25741868 PMID:31206972 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link