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
Accession: DOID:9004462
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
xref: EFO:1000096
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Alazami syndrome
ClinVar
PMID:19481195 PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27915094 PMID:28333917 PMID:28492532 PMID:28575650 More...
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Alazami syndrome
OMIM ClinVar
PMID:21937992 PMID:22865833 PMID:25741868 PMID:26374271 PMID:26607181 PMID:28492532 PMID:30006060 PMID:31074943 PMID:32860008 More...
NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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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
OMIM ClinVar
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 PMID:15889350 PMID:15980113 PMID:16417886 PMID:17356046 PMID:18187543 PMID:18398436 PMID:18414213 PMID:18636565 PMID:20083155 PMID:20301789 PMID:23568789 PMID:23744248 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25517855 PMID:25527620 PMID:25741868 PMID:27081503 PMID:27212794 PMID:27805744 PMID:28492532 PMID:30369548 PMID:31410843 PMID:31690835 PMID:32277047 PMID:32559475 PMID:33847015 More...
NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
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Ubtf
upstream binding transcription factor
ISO
ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | ClinVar Annotator: match by term: UBTF-Related Disorder
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:28191890 PMID:28777933 PMID:29300972 PMID:30517966 PMID:31931739 PMID:33026538 More...
NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969
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Tbcd
tubulin folding cofactor D
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
CTD ClinVar OMIM
PMID:16199547 PMID:25741868 PMID:27666370 PMID:27666374 PMID:27807845 PMID:28158450 PMID:28492532 PMID:29769041 PMID:30426380 PMID:31019026 PMID:31240573 PMID:31395954 PMID:31569255 PMID:32705489 PMID:33190326 PMID:34120799 More...
NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
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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
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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
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Med17
mediator complex subunit 17
ISO
ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
OMIM ClinVar
PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:26240385 PMID:28492532 PMID:30345598 PMID:30919572 More...
NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592
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Pip5k1c
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
ISO
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3
OMIM ClinVar
PMID:17701898 PMID:25741868
NCBI chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988
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Zc4h2
zinc finger C4H2-type containing
ISO
ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 PMID:19377476 PMID:23623388 PMID:25644381 PMID:25741868 PMID:26056227 PMID:28492532 PMID:28814648 PMID:31206972 PMID:32860008 More...
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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Ano5
anoctamin 5
ISO
ClinVar Annotator: match by term: Miyoshi myopathy
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32367299 More...
NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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Dysf
dysferlin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive
CTD ClinVar
PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 PMID:17868276 PMID:17897828 PMID:18832576 PMID:18853459 PMID:19493611 PMID:20535123 PMID:21522182 PMID:22046204 PMID:22297152 PMID:24033266 PMID:24239059 PMID:24438169 PMID:24838345 PMID:25525159 PMID:25741868 PMID:25868377 PMID:25987458 PMID:26077327 PMID:26290895 PMID:26467025 PMID:27365461 PMID:27666772 PMID:28492532 PMID:30107846 PMID:30564623 PMID:32528171 PMID:34906502 More...
NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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Dysf
dysferlin
ISO
ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1
OMIM ClinVar
PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 PMID:9731526 PMID:10196377 PMID:10825360 PMID:11053681 PMID:11468312 PMID:11532985 PMID:12410383 PMID:12796534 PMID:14678801 PMID:15293763 PMID:15469449 PMID:15835269 PMID:16010686 PMID:16087766 PMID:16100712 PMID:16199547 PMID:16891820 PMID:16934466 PMID:16996541 PMID:17070050 PMID:17287450 PMID:17512949 PMID:17576681 PMID:17698709 PMID:17825554 PMID:17897828 PMID:17932988 PMID:17994539 PMID:18276788 PMID:18306167 PMID:18832576 PMID:18853459 PMID:19084402 PMID:19493611 PMID:19528035 PMID:20301480 PMID:20535123 PMID:20544924 PMID:20558759 PMID:20623375 PMID:21484829 PMID:21522182 PMID:21816046 PMID:22046204 PMID:22174839 PMID:22194990 PMID:22246893 PMID:22297152 PMID:22849992 PMID:22910291 PMID:22995991 PMID:23243261 PMID:23757202 PMID:24033266 PMID:24123366 PMID:24239059 PMID:24438169 PMID:24488599 PMID:24838345 PMID:25133958 PMID:25135358 PMID:25312915 PMID:25373139 PMID:25493284 PMID:25525159 PMID:25574751 PMID:25591676 PMID:25741868 PMID:25783436 PMID:25807536 PMID:25821721 PMID:25868377 PMID:26000923 PMID:26060040 PMID:26077327 PMID:26088049 PMID:26290895 PMID:26404900 PMID:26467025 PMID:26579332 PMID:26806107 PMID:26916285 PMID:27066573 PMID:27363342 PMID:27365461 PMID:27447704 PMID:27602406 PMID:27641898 PMID:27647186 PMID:27666772 PMID:27854218 PMID:27858744 PMID:27884173 PMID:28403181 PMID:28492532 PMID:28904466 PMID:29382405 PMID:29970176 PMID:30028523 PMID:30366248 PMID:30564623 PMID:30919934 PMID:31019989 PMID:31066050 PMID:31475473 PMID:31589614 PMID:31931849 PMID:32400077 PMID:32528171 PMID:32751317 PMID:33610434 PMID:33715265 PMID:33927379 PMID:34559919 PMID:35047756 More...
NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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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)
OMIM ClinVar RGD
PMID:9673985 PMID:17132147 PMID:18414213 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23193613 PMID:23530687 PMID:23606453 PMID:23607914 PMID:23663589 PMID:23670307 PMID:23757202 PMID:24022920 PMID:24033266 PMID:24232312 PMID:24803842 PMID:24843231 PMID:25046369 PMID:25135358 PMID:25741868 PMID:25864073 PMID:25891276 PMID:26467025 PMID:26838040 PMID:26886200 PMID:27447704 PMID:27671536 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27911336 PMID:28176803 PMID:28187523 PMID:28492532 PMID:28888072 PMID:30564623 PMID:30919934 PMID:31350120 PMID:31353849 PMID:31395899 PMID:31589614 PMID:32112655 PMID:32528171 PMID:33963534 PMID:34008892 PMID:20096397 More...
RGD:11570558
NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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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
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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
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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
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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
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Cacna1s
calcium voltage-gated channel subunit alpha1 S
ISO
ClinVar Annotator: match by term: Muscular atrophy
ClinVar
PMID:25741868 PMID:31227654
NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
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Ccng1
cyclin G1
IEP
associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
RGD
PMID:14638460
RGD:151361116
NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
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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
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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
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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
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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
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Col6a3
collagen type VI alpha 3 chain
ISO
ClinVar Annotator: match by term: 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
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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
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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
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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
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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
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Dmd
dystrophin
IEP ISO
ClinVar Annotator: match by term: Muscular atrophy
ClinVar RGD
PMID:25741868 PMID:12107060
RGD:625642
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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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
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Fabp4
fatty acid binding protein 4
IEP
associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
RGD
PMID:14638460
RGD:151361116
NCBI chr 2:91,580,858...91,585,578
Ensembl chr 2:91,580,885...91,585,578
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Fbxo32
F-box protein 32
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21139329 PMID:11679633
RGD:633893
NCBI chr 7:89,731,626...89,764,761
Ensembl chr 7:89,730,232...89,765,436
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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
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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
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Ghr
growth hormone receptor
IEP
mRNA:increased expression:soleus associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
RGD
PMID:12865352 PMID:14638460
RGD:2307376 , RGD:151361116
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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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
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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
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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
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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
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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
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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
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Kif16b
kinesin family member 16B
ISO
ClinVar Annotator: match by term: Muscular atrophy
ClinVar
PMID:25741868
NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019
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Kras
KRAS proto-oncogene, GTPase
IEP
associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
RGD
PMID:14638460
RGD:151361116
NCBI chr 4:178,185,418...178,218,484
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Mstn
myostatin
IEP
mRNA, protein:altered expression:skeletal muscle associated with Addison's Disease
RGD
PMID:15758361 PMID:15738643
RGD:2303594 , RGD:2303596
NCBI chr 9:48,453,982...48,458,809
Ensembl chr 9:48,452,533...48,458,933
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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
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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
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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
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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
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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
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Pygm
glycogen phosphorylase, muscle associated
ISO
ClinVar Annotator: match by term: Muscular atrophy
ClinVar
PMID:831628 PMID:1067063 PMID:2244438 PMID:2391551 PMID:3476861 PMID:8316268 PMID:8401511 PMID:9131647 PMID:9506549 PMID:9674815 PMID:11168025 PMID:11706962 PMID:12929201 PMID:14748827 PMID:16786513 PMID:17172620 PMID:17221871 PMID:17324573 PMID:17404776 PMID:17915571 PMID:17994553 PMID:20301518 PMID:20981092 PMID:21802952 PMID:22250184 PMID:22730558 PMID:23653251 PMID:24033266 PMID:25240406 PMID:25740218 PMID:25741868 PMID:25873271 PMID:25914343 PMID:28492532 PMID:29143597 PMID:32386344 More...
NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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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
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
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
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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
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
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
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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
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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
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
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
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Trim63
tripartite motif containing 63
IEP ISO
mRNA:increased expression:gastrocnemius CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21139329 PMID:11679633
RGD:633893
NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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
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
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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
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
G
Atp6v0a1
ATPase H+ transporting V0 subunit a1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and brain atrophy
ClinVar OMIM
PMID:15742102 PMID:33833240 PMID:34909687
NCBI chr10:85,935,802...85,989,901
Ensembl chr10:85,935,854...85,989,895
G
Exoc8
exocyst complex component 8
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32103185
NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491
G
Exoc7
exocyst complex component 7
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy
OMIM ClinVar
PMID:25741868 PMID:32103185
NCBI chr10:101,521,640...101,563,123
Ensembl chr10:101,520,927...101,540,561
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Taf8
TATA-box binding protein associated factor 8
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
OMIM ClinVar
PMID:25741868 PMID:29648665 PMID:35759269
NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717
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Zbtb20
zinc finger and BTB domain containing 20
ISO
ClinVar Annotator: match by term: Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes | ClinVar Annotator: match by term: Primrose syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28327206 PMID:28492532 PMID:29737001 More...
NCBI chr11:57,052,129...57,823,679
Ensembl chr11:57,072,880...57,510,210
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Als2cl
ALS2 C-terminal like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,863,753...110,884,434
Ensembl chr 8:110,864,975...110,884,419
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Arih2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
G
Arih2os
ARIH2 opposite strand lncRNA
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
G
Camp
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543
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Ccdc12
coiled-coil domain containing 12
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
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Ccdc51
coiled-coil domain containing 51
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,722,595...109,741,478
Ensembl chr 8:109,722,557...109,741,472
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Ccr1
C-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,556,286...123,561,841
G
Ccr2
C-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Ccr3
C-C motif chemokine receptor 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
G
Ccr5
C-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Ccr9
C-C motif chemokine receptor 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
G
Ccrl2
C-C motif chemokine receptor like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:111,034,279...111,036,914
Ensembl chr 8:111,034,279...111,036,664
G
Cdc25a
cell division cycle 25A
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
G
Celsr3
cadherin, EGF LAG seven-pass G-type receptor 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
G
Cspg5
chondroitin sulfate proteoglycan 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,220,653...110,234,750
Ensembl chr 8:110,220,653...110,234,758
G
Cxcr6
C-X-C motif chemokine receptor 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526
G
Dalrd3
DALR anticodon binding domain containing 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
G
Dhx30
DExH-box helicase 30
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381
G
Elp6
elongator acetyltransferase complex subunit 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,280,059...110,295,070
Ensembl chr 8:110,279,979...110,295,067
G
Fbxw12
F-box and WD repeat domain containing 12
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813
G
Fyco1
FYVE and coiled-coil domain autophagy adaptor 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021
G
Impdh2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
G
Ip6k2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
G
Kif9
kinesin family member 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,459,467...110,504,492
Ensembl chr 8:110,459,383...110,505,252
G
Klhl18
kelch-like family member 18
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,400,679...110,459,442
Ensembl chr 8:110,400,681...110,459,323
G
Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
G
Limd1
LIM domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,121,363...123,168,476
Ensembl chr 8:123,122,460...123,167,714
G
Lrrc2
leucine rich repeat containing 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,936,119...110,969,189
Ensembl chr 8:110,938,165...110,969,185
G
Ltf
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
G
Lztfl1
leucine zipper transcription factor-like 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
G
Map4
microtubule-associated protein 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,925,233...110,064,370
Ensembl chr 8:109,925,575...110,064,362
G
Mir191
microRNA 191
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,264,098...109,264,188
G
Myl3
myosin light chain 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
G
Nbeal2
neurobeachin-like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707
G
Nckipsd
NCK interacting protein with SH3 domain
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,511,484...109,522,625
Ensembl chr 8:109,511,658...109,522,246
G
Ndufaf3
NADH:ubiquinone oxidoreductase complex assembly factor 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
G
Nme6
NME/NM23 nucleoside diphosphate kinase 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
G
P4htm
prolyl 4-hydroxylase, transmembrane
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473
G
Pfkfb4
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634
G
Plxnb1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,743,470...109,769,153
Ensembl chr 8:109,744,697...109,769,027
G
Prkar2a
protein kinase cAMP-dependent type II regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
G
Prss50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,842,525...110,848,855
Ensembl chr 8:110,842,671...110,848,802
G
Pth1r
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
G
Ptpn23
protein tyrosine phosphatase, non-receptor type 23
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271
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 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:28492532 PMID:29875423 PMID:32042906 More...
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
G
Qrich1
glutamine-rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
G
Rtp3
receptor (chemosensory) transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,970,154...110,975,000
Ensembl chr 8:110,970,160...110,974,699
G
Sacm1l
SAC1 like phosphatidylinositide phosphatase
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,176,017...123,232,413
Ensembl chr 8:123,172,536...123,232,413
G
Scap
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,306,031...110,360,677
Ensembl chr 8:110,306,031...110,360,666
G
Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
G
Shisa5
shisa family member 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,691,476...109,706,409
Ensembl chr 8:109,691,522...109,706,408
G
Slc25a20
solute carrier family 25 member 20
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
G
Slc26a6
solute carrier family 26 member 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778
G
Slc6a20a
solute carrier family 6 member 20a
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573
G
Smarcc1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,111,097...110,214,727
Ensembl chr 8:110,111,122...110,214,720
G
Spink8
serine peptidase inhibitor, Kazal type 8
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,814,062...109,828,994
Ensembl chr 8:109,817,365...109,828,994
G
Tdgf1
teratocarcinoma-derived growth factor 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
G
Tma7
translation machinery associated 7 homolog
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,726,213...109,730,902
Ensembl chr 8:109,726,196...109,735,474
G
Tmem89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
G
Tmie
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803
G
Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
G
Ucn2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
G
Uqcrc1
ubiquinol-cytochrome c reductase core protein 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
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Wdr6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
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Xcr1
X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,479,454...123,516,168
Ensembl chr 8:123,479,590...123,487,226
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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
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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
Ensembl chr 3:15,912,485...15,923,041
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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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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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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
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Bcl2
BCL2, apoptosis regulator
IEP
mRNA:decreased expression:plantaris
RGD
PMID:17029665
RGD:2325745
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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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
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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
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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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Zc4h2
zinc finger C4H2-type containing
ISO
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted
ClinVar OMIM
PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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