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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:Anatomical Pathological Conditions
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Accession:DOID:9005214 term browser browse the term
Definition:An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases.
Synonyms:exact_synonym: Anatomical Pathological Condition
 primary_id: MESH:D020763
For additional species annotation, visit the Alliance of Genome Resources.


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3-methylglutaconic aciduria type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
ClinVar Annotator: match by OMIM:610198
OMIM
ClinVar
PMID:16055927 PMID:22797137 PMID:22981120 PMID:27928778 PMID:28492532 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
acrocallosal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic ClinVar PMID:22246503 PMID:28492532 NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18627055 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Acrocallosal syndrome
ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type
ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds,splice junction:
DNA:missense,frameshift mutations:cds:
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19666503 More... RGD:11553832, RGD:11068757 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type ClinVar PMID:25741868 PMID:29321670 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Ticrr TOPBP1-interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type ClinVar NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523
JBrowse link
Adenomatous Polyps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:12810952 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Cdx2 caudal type homeo box 2 ISO RGD PMID:9052785 RGD:734757 NCBI chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142
JBrowse link
G Defa5 defensin alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15844706 NCBI chr16:70,342,530...70,344,836
Ensembl chr16:70,342,530...70,344,836
JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:19427313 RGD:150340551 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
ClinVar Annotator: match by term: ADULT syndrome
ClinVar Annotator: match by OMIM:103285
OMIM
ClinVar
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28221363 PMID:29475819 More... NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:86,802,791...86,928,860
Ensembl chr 9:86,802,868...86,928,860
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
JBrowse link
G Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar NCBI chr 4:167,458,640...167,543,556
Ensembl chr 4:167,473,177...167,540,993
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar PMID:25741868 PMID:31585109 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar Annotator: match by term: Corpus callosum, agenesis of
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:24808016 PMID:25741868 PMID:28250454 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
JBrowse link
G Dhx16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Absence of corpus callosum ClinVar PMID:31256877 NCBI chr20:2,862,000...2,874,991
Ensembl chr20:2,862,000...2,874,948
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369
JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr  X:65,721,724...65,824,151
Ensembl chr  X:65,721,779...65,824,139
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More... NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868 PMID:29276005 PMID:31474318 NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:29232904 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833
JBrowse link
agenesis of corpus callosum, cardiac, ocular, and genital syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME ClinVar
OMIM
PMID:18798333 PMID:25741868 PMID:31585109 PMID:31650526 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
JBrowse link
agenesis of the corpus callosum with peripheral neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 4:146,896,332...147,140,665
Ensembl chr 4:146,896,332...147,140,665
JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Andermann syndrome ClinVar NCBI chr 3:99,169,711...99,174,730
Ensembl chr 3:99,169,711...99,174,729
JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy
ClinVar Annotator: match by term: Andermann syndrome
ClinVar Annotator: match by OMIM:218000
ClinVar
OMIM
PMID:12368912 PMID:12838516 PMID:16199547 PMID:16606917 PMID:17893295 More... RGD:1580594 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex
ClinVar Annotator: match by term: Dysgnathia complex
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:202650
OMIM
ClinVar
CTD
PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
JBrowse link
Airway Remodeling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn4 cellular communication network factor 4 treatment IMP associated with Asthma RGD PMID:23845395 RGD:10003106 NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
JBrowse link
G Foxp3 forkhead box P3 treatment ISO RGD PMID:27633092 RGD:38548920 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
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
alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18381794 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15902657 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:dermal papilla: RGD PMID:21729031 RGD:8657081 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25242322 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Cdsn corneodesmosin ISO hypotrichosis simplex of the scalp, OMIM:146520 RGD PMID:12754508 RGD:1599783 NCBI chr20:3,179,432...3,185,854
Ensembl chr20:3,179,438...3,184,250
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Baldness ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Esr2 estrogen receptor 2 no_association
susceptibility
ISO DNA:snps:multiple (human)
DNA:snps:enhancer, intron g.-20301C>T, g.34493G>A, g.16688A>G (rs2022748, rs10137185, rs17101774) (human)
RGD PMID:22509838 PMID:22014031 RGD:8694094, RGD:8694095 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Far2 fatty acyl CoA reductase 2 ISS OMIM:300042 MouseDO NCBI chr 4:180,973,968...181,087,862
Ensembl chr 4:181,007,622...181,087,255
JBrowse link
G Foxn1 forkhead box N1 ISO T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 RGD PMID:10206641 RGD:1599846 NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO alopecia universalis congenita, OMIM:203655
CTD Direct Evidence: marker/mechanism
CTD PMID:16455232 PMID:9736769 RGD:1599575 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:plasma:
protein:decreased secretion:dermal papilla:
RGD PMID:10827403 PMID:24499417 RGD:8549462, RGD:8549500 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Baldness ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mlph melanophilin ISO Coat colour, dilution, MLPH-related OMIA PMID:8257319 PMID:12358609 PMID:15958794 PMID:15960853 PMID:16131833 More... NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18381794 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
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 Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) RGD PMID:7573371 RGD:7387278 NCBI chr20:3,314,984...3,318,037 JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17136762 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:44,839,818...44,867,582 JBrowse link
G Tpmt thiopurine S-methyltransferase ISO RGD PMID:24322830 RGD:11038725 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1338926 PMID:22466564 PMID:11713240 RGD:8157637 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:98,487,309...98,525,906
Ensembl chr 1:98,487,358...98,525,905
JBrowse link
G Zfp36 zinc finger protein 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564
JBrowse link
alopecia areata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20596022 PMID:23567921 RGD:7411701 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 7:128,923,918...128,962,025
Ensembl chr 7:128,923,920...128,962,072
JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8077705 RGD:6909137 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3261574 PMID:16297194 RGD:8663449, RGD:8663450 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Kdm1a lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
JBrowse link
G Kdm4a lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 9:1,158,737...1,237,228
Ensembl chr 9:1,158,752...1,236,543
JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
JBrowse link
G Kdm5a lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
JBrowse link
G Mx1 MX dynamin like GTPase 1 onset ISO DNA:SNP:intron 6:g.9959C>T (human) RGD PMID:10942113 RGD:126777672 NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Prdx5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 severity ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:16829308 RGD:6484734 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism: : HLA-DQB1*0604; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Stx17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451
JBrowse link
alopecia universalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Alopecia universalis congenita
ClinVar Annotator: match by OMIM:203655
OMIM
ClinVar
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:11410842 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum RGD PMID:20671941 RGD:7829773 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
Alopecia, Hypogonadism, Extrapyramidal Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:6876115 PMID:16199547 PMID:17710875 PMID:18049083 PMID:18175354 More... NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
JBrowse link
G Mettl8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:17710875 PMID:19026396 PMID:25741868 PMID:26612766 PMID:28492532 NCBI chr 3:55,731,453...55,863,652 JBrowse link
alopecia, neurologic defects, and endocrinopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: Alopecia, neurologic defects, and endocrinopathy syndrome
ClinVar Annotator: match by OMIM:612079
OMIM
ClinVar
PMID:18439547 PMID:25741868 NCBI chr 4:57,722,223...57,761,935
Ensembl chr 4:57,722,223...57,761,653
JBrowse link
alopecia-mental retardation syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: Alopecia mental retardation syndrome 1 ClinVar
OMIM
PMID:9003486 PMID:15592877 PMID:15806395 PMID:25741868 PMID:28054173 NCBI chr11:78,117,903...78,145,956 JBrowse link
alopecia-mental retardation syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: ALOPECIA-MENTAL RETARDATION SYNDROME 4 ClinVar PMID:25741868 NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: ALOPECIA-MENTAL RETARDATION SYNDROME 4 OMIM
ClinVar
PMID:25741868 PMID:30401459 PMID:30723320 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
Amyloid Plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19818510 PMID:29729307 PMID:31939705 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:22157615 RGD:5687325 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:15014117 RGD:10059349 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7816197 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
JBrowse link
Aortic Remodeling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 treatment IDA associated with Hypertension RGD PMID:26693246 RGD:11073698 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IEP
IMP
protein:increased activity:heart left ventricle (rat) RGD PMID:22768235 PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Ackr1 atypical chemokine receptor 1 IEP RGD PMID:24429330 RGD:9681736 NCBI chr13:85,782,396...85,786,002 JBrowse link
G Angpt2 angiopoietin 2 IEP mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Arrb1 arrestin, beta 1 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
JBrowse link
G Arrb2 arrestin, beta 2 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Des desmin IEP RGD PMID:10591032 RGD:13525010 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP
ISO
protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO
RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343 PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
Asthma and Nasal Polyps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Da RT1 class II, locus Da susceptibility ISO DNA:SNPs,haplotype:introns: RGD PMID:22391069 RGD:13506908 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
JBrowse link
G Tbx21 T-box transcription factor 21 ISO ClinVar Annotator: match by null ClinVar PMID:15806396 NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
JBrowse link
asthma, nasal polyps, and aspirin intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox15 arachidonate 15-lipoxygenase ISO ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance ClinVar PMID:17959182 PMID:21558275 PMID:30643255 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
JBrowse link
G Ptger2 prostaglandin E receptor 2 ISO OMIM NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
JBrowse link
G Tbx21 T-box transcription factor 21 ISO ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance OMIM
ClinVar
PMID:25741868 NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
JBrowse link
Atrial Remodeling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir21 microRNA 21 treatment IEP RGD PMID:30203914 RGD:41404716 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
atrichia with papular lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Atrichia with papular lesions
ClinVar Annotator: match by OMIM:209500
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
G Odc1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440
JBrowse link
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
Attenuated Adenomatous Polyposis Coli term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 ClinVar PMID:1316610 PMID:1324223 PMID:8990002 PMID:9950360 PMID:11317365 More... NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated ClinVar PMID:19617566 PMID:20551049 PMID:22461326 PMID:24038392 PMID:26845104 More... NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: DDOD SYNDROME, UMLS MESH term: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
ClinVar
OMIM
PMID:24913193 PMID:25741868 PMID:28396750 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
JBrowse link
Banti's Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased expression:serum (human) RGD PMID:21290180 RGD:25671452 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
BASAN syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISO ClinVar Annotator: match by term: Basan syndrome ClinVar
OMIM
PMID:20619487 PMID:21820097 PMID:24664640 PMID:26932190 NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
JBrowse link
bladder calculus 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:22232670 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
bladder diverticulum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Diverticulum of bladder ClinVar PMID:25741868 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
JBrowse link
Blister term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19167455 NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
JBrowse link
G Anxa1 annexin A1 ISO associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell RGD PMID:10331485 RGD:7421575 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Blisters ClinVar PMID:9881948 PMID:12787275 PMID:16971478 PMID:22266148 PMID:25741868 More... NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Blisters ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Blisters ClinVar NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
JBrowse link
BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISO ClinVar Annotator: match by term: BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA OMIM
ClinVar
PMID:30528827 NCBI chr18:11,798,905...11,833,415
Ensembl chr18:11,798,900...11,830,818
JBrowse link
Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness
ClinVar Annotator: match by OMIM:612394
OMIM
ClinVar
PMID:18834968 PMID:25741868 PMID:28492532 NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960
JBrowse link
brain compression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfl1 cofilin 1 treatment ISO RGD PMID:25708984 RGD:12738361 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
Bronchial Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain treatment IDA RGD PMID:24647564 RGD:8661658 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:208250
OMIM
ClinVar
CTD
PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome ClinVar PMID:29397575 NCBI chr13:62,424,312...62,487,502
Ensembl chr13:62,424,312...62,487,496
JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM
ClinVar
PMID:25315659 NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:25741868 PMID:30010057 NCBI chr 2:243,781,445...243,807,037 JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy OMIM
ClinVar
PMID:24925317 PMID:25741868 PMID:25791106 PMID:29355681 PMID:30010057 NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
JBrowse link
Cardiomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IDA RGD PMID:12494268 RGD:1549856 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:24342267 RGD:11039415 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Acot2 acyl-CoA thioesterase 2 IEP mRNA:decreased expression:heart (rat) RGD PMID:15292030 RGD:2315862 NCBI chr 6:103,611,744...103,619,404
Ensembl chr 6:103,611,544...103,619,245
JBrowse link
G Adra1b adrenoceptor alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:11278430 PMID:11940550 NCBI chr10:28,255,025...28,373,418
Ensembl chr10:28,255,025...28,312,919
JBrowse link
G Adra2a adrenoceptor alpha 2A ISO CTD Direct Evidence: therapeutic CTD PMID:20083574 NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
JBrowse link
G Adra2c adrenoceptor alpha 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20083574 NCBI chr14:75,471,143...75,472,846
Ensembl chr14:75,471,143...75,472,846
JBrowse link
G Agt angiotensinogen IDA
ISO
CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:11403367 PMID:15226216 PMID:15851630 PMID:15870116 PMID:17124262 More... RGD:5129174, RGD:11039415, RGD:8548902 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IMP
ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:17350036 PMID:21367774 PMID:11324571 PMID:10639182 RGD:5129174, RGD:10047105, RGD:737777 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr1b angiotensin II receptor, type 1b IEP RGD PMID:11324571 RGD:10047105 NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
JBrowse link
G Agtrap angiotensin II receptor-associated protein IEP RGD PMID:18725581 RGD:2314351 NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24247421 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Akap5 A-kinase anchoring protein 5 ISO human gene, mouse model
CTD Direct Evidence: therapeutic
CTD PMID:11248077 PMID:11248077 RGD:2313290 NCBI chr 6:95,051,527...95,061,075
Ensembl chr 6:95,051,537...95,061,578
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24448315 PMID:12237475 RGD:734544 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Ankrd1 ankyrin repeat domain 1 IDA RGD PMID:10904011 RGD:1578370 NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Anxa2 annexin A2 IEP mRNA:increased expression:heart: RGD PMID:10603972 RGD:10053694 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
JBrowse link
G Anxa5 annexin A5 IEP mRNA:increased expression:heart: RGD PMID:10603972 RGD:10053694 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6218830 NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840
JBrowse link
G Apln apelin IEP associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium RGD PMID:16674982 RGD:1626173 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Atf3 activating transcription factor 3 ISO RGD PMID:11485922 RGD:7327201 NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
JBrowse link
G Atg16l1 autophagy related 16-like 1 treatment IEP RGD PMID:24998254 RGD:11561938 NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
JBrowse link
G Atg5 autophagy related 5 treatment IEP RGD PMID:24998254 RGD:11561938 NCBI chr20:47,798,222...47,889,216
Ensembl chr20:47,798,290...47,889,209
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 IDA RGD PMID:15644428 RGD:6903354 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
JBrowse link
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 treatment ISO
IDA
CTD Direct Evidence: marker/mechanism CTD PMID:11679415 PMID:29792884 RGD:13782078 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP RGD PMID:25880160 RGD:13792672 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
JBrowse link
G Avpr1a arginine vasopressin receptor 1A IMP associated with Heart Failure, Congestive RGD PMID:18467593 RGD:2300338 NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
JBrowse link
G Bad BCL2-associated agonist of cell death treatment IDA associated with Hypertension RGD PMID:21921241 RGD:10053646 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
JBrowse link
G Becn1 beclin 1 treatment IEP mRNA, protein:increased expression:heart left ventricle RGD PMID:23326547 PMID:24998254 RGD:11561904, RGD:11561938 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:heart: RGD PMID:23747723 RGD:8847123 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO RGD PMID:18420946 RGD:9686423 NCBI chr 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
JBrowse link
G Cabin1 calcineurin binding protein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11248077 NCBI chr20:12,893,314...13,015,357
Ensembl chr20:12,893,358...13,015,357
JBrowse link
G Cav1 caveolin 1 IEP
ISO
protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism
CTD PMID:17487232 PMID:17487232 RGD:2289120 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cav3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19299911 NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: therapeutic CTD PMID:15576649 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Cd36 CD36 molecule treatment ISO associated with Obesity RGD PMID:26036798 RGD:11040928 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cd38 CD38 molecule IMP RGD PMID:18719074 RGD:2307236 NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
JBrowse link
G Cd44 CD44 molecule (Indian blood group) IEP protein:increased expression:coronary artery RGD PMID:18196276 RGD:2289364 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
JBrowse link
G Cma1 chymase 1 ISO mRNA:increased expression:heart left ventricle (mouse) RGD PMID:11828013 RGD:5128508 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
JBrowse link
G Corin corin, serine peptidase ISO
IEP
mRNA:increased expression:heart (rat) RGD PMID:17485366 PMID:15191894 RGD:1626338, RGD:1581217 NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503
JBrowse link
G Cox5b cytochrome c oxidase subunit 5B IEP associated with Hypertension RGD PMID:16132109 RGD:2301377 NCBI chr 9:38,921,980...38,923,806
Ensembl chr 9:38,921,967...38,925,052
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24330405 NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
JBrowse link
G Crem cAMP responsive element modulator ISO RGD PMID:15569686 RGD:1581291 NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
JBrowse link
G Ctf1 cardiotrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18400235 PMID:19100119 NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 IEP
ISO
mRNA:increased expression:cardiac muscle tissue (rat)
mRNA:increased expression:cardiac muscle tissue (mouse)
RGD PMID:19349910 PMID:19349910 RGD:4145630, RGD:4145630 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IMP RGD PMID:15939810 RGD:2307307 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 treatment ISO
IDA
associated with Hypertension
CTD Direct Evidence: marker/mechanism
CTD PMID:18725507 PMID:20805442 PMID:20805442 RGD:7829714, RGD:7829714 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725507 NCBI chr 5:129,097,571...129,115,488
Ensembl chr 5:129,097,926...129,115,463
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23297412 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Edn1 endothelin 1 severity IEP
ISO
protein:increased expression:heart ventricle, plasma (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:22198280 PMID:7771559 RGD:8661803 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:15652507 RGD:1580954 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:16025126 RGD:5131654 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Ep300 E1A binding protein p300 IEP associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) RGD PMID:23211718 RGD:7327187 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 treatment ISO
IDA
protein:increased expression:heart: RGD PMID:19204184 PMID:19204184 RGD:9685562, RGD:9685562 NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP
ISO
mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism
CTD PMID:10491406 PMID:18196276 RGD:2289364 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Fgf21 fibroblast growth factor 21 ISO RGD PMID:23771152 RGD:10401893 NCBI chr 1:96,083,495...96,084,738
Ensembl chr 1:96,083,441...96,090,454
JBrowse link
G Fhl2 four and a half LIM domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25358972 NCBI chr 9:45,388,979...45,462,530
Ensembl chr 9:45,388,981...45,431,192
JBrowse link
G Fndc5 fibronectin type III domain containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:30703374 NCBI chr 5:141,481,593...141,491,257
Ensembl chr 5:141,481,590...141,490,731
JBrowse link
G Fxyd1 FXYD domain-containing ion transport regulator 1 treatment ISO RGD PMID:24218169 RGD:9685471 NCBI chr 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19564549 NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16259952 PMID:18252717 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Glrx3 glutaredoxin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16809552 NCBI chr 1:192,241,707...192,272,012
Ensembl chr 1:192,241,701...192,272,010
JBrowse link
G Gnaq G protein subunit alpha q ISO RGD PMID:9811897 RGD:1598475 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:heart left ventricle (mouse)
CTD PMID:11901213 PMID:23969695 PMID:25982117 RGD:13792712, RGD:11052788 NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582
JBrowse link
G Grk3 G protein-coupled receptor kinase 3 IEP mRNA:increased expression:heart left ventricle (rat) RGD PMID:20677219 RGD:5685025 NCBI chr12:43,624,778...43,735,375
Ensembl chr12:43,624,897...43,731,262
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:17901358 PMID:19318234 RGD:10045585 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30240538 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP RGD PMID:24424338 RGD:11041632 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hand1 heart and neural crest derivatives expressed 1 IEP
ISO
mRNA:decreased expression:heart ventricle
mRNA:decreased expression:heart left ventricle
RGD PMID:12359233 PMID:12359233 RGD:727442, RGD:727442 NCBI chr10:42,006,646...42,009,213
Ensembl chr10:42,006,651...42,009,213
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 IEP
ISO
mRNA:altered expression:cardiac ventricle
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:heart right ventricle
CTD PMID:29394407 PMID:12359233 PMID:12359233 RGD:727442, RGD:727442 NCBI chr16:32,917,826...32,919,880
Ensembl chr16:32,917,823...32,919,891
JBrowse link
G Has1 hyaluronan synthase 1 IEP mRNA:increased expression:heart RGD PMID:18196276 RGD:2289364 NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397
JBrowse link
G Has2 hyaluronan synthase 2 IEP mRNA:increased expression:heart RGD PMID:18196276 RGD:2289364 NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933
JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased activity:heart:
CTD Direct Evidence: marker/mechanism
protein:increased acetylation:heart:
CTD PMID:18625706 PMID:18849323 PMID:24526703 RGD:2306446, RGD:9590211 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac8 histone deacetylase 8 treatment ISO
IEP
associated with Hypertension RGD PMID:25504627 PMID:23868068 RGD:13208811, RGD:9681716 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
JBrowse link
G Hfe homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:28720890 RGD:14746969 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15942707 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:23708738 RGD:10402070 NCBI chr12:5,973,062...5,978,565 JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15226216 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hrc histidine rich calcium binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17030629 NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA RGD PMID:25804640 RGD:10402399 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Htr2b 5-hydroxytryptamine receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302781 PMID:19023134 PMID:20374255 NCBI chr 9:86,735,793...86,756,640
Ensembl chr 9:86,742,102...86,755,108
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10547078 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:18801929 RGD:2311509 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18660453 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta IEP
ISO
mRNA, protein:increased expression:heart
CTD Direct Evidence: marker/mechanism
CTD PMID:15302781 PMID:15542404 RGD:1581939 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO RGD PMID:17492053 RGD:40813740 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il33 interleukin 33 treatment IDA
ISO
protein:increased expression:cardiomyocyte RGD PMID:17492053 PMID:17492053 RGD:40813740, RGD:40813740 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Il6 interleukin 6 IEP mRNA, protein:increased expression:heart RGD PMID:15542404 RGD:1581939 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO RGD PMID:10219240 RGD:737751 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23589561 RGD:11530060 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
JBrowse link
G Irx4 iroquois homeobox 4 ISO RGD PMID:11238910 RGD:1582289 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
JBrowse link
G Itga3 integrin subunit alpha 3 IEP protein:increased expression:cardiac myocyte (rat) RGD PMID:1835909 RGD:2325829 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
JBrowse link
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616315 NCBI chr 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164
JBrowse link
G Kat8 lysine acetyltransferase 8 treatment ISO mRNA, protein:decreased expression:heart (mouse)
human gene in a mouse model
RGD PMID:24802406 PMID:24802406 RGD:9586036, RGD:9586036 NCBI chr 1:182,524,355...182,536,638 JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO protein:decreased expression:heart: RGD PMID:23747723 RGD:8847123 NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
JBrowse link
G Kdm4a lysine demethylase 4A ISO RGD PMID:21555854 RGD:9587422 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
JBrowse link
G Kl Klotho treatment ISO RGD PMID:23225045 RGD:10403062 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Klf5 Kruppel-like factor 5 ISO RGD PMID:15098654 RGD:1304323 NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
JBrowse link
G Klk1 kallikrein 1 ISO RGD PMID:17137568 RGD:1641797 NCBI chr 1:94,642,722...94,646,714
Ensembl chr 1:94,642,687...94,646,754
JBrowse link
G Klk1c12 kallikrein 1-related peptidase C12 ISO RGD PMID:17137568 RGD:1641797 NCBI chr 1:94,378,103...94,382,140
Ensembl chr 1:94,378,054...94,382,176
JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:15226216 NCBI chr14:79,131,049...79,140,486
Ensembl chr14:79,134,574...79,140,482
JBrowse link
G Loxl1 lysyl oxidase-like 1 IEP RGD PMID:17378376 RGD:7394734 NCBI chr 8:58,692,592...58,716,356
Ensembl chr 8:58,692,593...58,716,356
JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase IEP RGD PMID:17039281 RGD:2303711 NCBI chr 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment IEP RGD PMID:24998254 RGD:11561938 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
JBrowse link
G Map2k5 mitogen activated protein kinase kinase 5 ISO RGD PMID:11387209 RGD:1580866 NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:15722372 PMID:12750397 RGD:1582275, RGD:13782145 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
JBrowse link
G Mapk1 mitogen activated protein kinase 1 IDA RGD PMID:15607907 RGD:1582283 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:12668503 RGD:1582316 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:ventricle (rat) RGD PMID:10489112 RGD:2317547 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mfn1 mitofusin 1 treatment ISO RGD PMID:28503736 RGD:12910714 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
JBrowse link
G Mfn2 mitofusin 2 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
associated with Hypertension:protein:decreased expression:heart (rat)
mRNA, protein:decreased expression:heart (mouse)
CTD PMID:17499311 PMID:27085127 PMID:27565029 PMID:27847271 PMID:28503736 RGD:12910835, RGD:12910768, RGD:12910764, RGD:12910714 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Mir125b2 microRNA 125b-2 ISO CTD Direct Evidence: therapeutic CTD PMID:29122578 NCBI chr11:16,245,620...16,245,707 JBrowse link
G Mir21 microRNA 21 ISO CTD Direct Evidence: marker/mechanism
RNA:increased expression:heart:
CTD PMID:17525252 PMID:32040481 RGD:41404711 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir30a microRNA 30a IEP RNA:decreased expression:heart left ventricle RGD PMID:23326547 RGD:11561904 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
JBrowse link
G Mir30b microRNA 30b IEP RNA:decreased expression:heart left ventricle RGD PMID:23326547 RGD:11561904 NCBI chr 7:100,132,589...100,132,675
Ensembl chr 7:100,132,589...100,132,675
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:16327176 RGD:1582627 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP mRNA:increased expression:heart left ventricle RGD PMID:17207419 RGD:1642047 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: therapeutic CTD PMID:11309296 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Mtor mechanistic target of rapamycin kinase IMP associated with Aortic Valve Stenosis RGD PMID:20861467 RGD:10003169 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Mybpc3 myosin binding protein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22189562 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22000973 RGD:7240700 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Myh6 myosin heavy chain 6 IEP RGD PMID:1703406 RGD:12798563 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 IEP RGD PMID:1703406 RGD:12798563 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Myocd myocardin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16556869 NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 IEP RGD PMID:24388463 RGD:7800726 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28973413 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 IEP protein:increased expression:heart, plasma membrane (rat) RGD PMID:14559858 RGD:5132887 NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:17673519 RGD:1642136 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP
ISO
protein:increased expression:aorta
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:11504159 PMID:12224825 PMID:16844920 PMID:17487232 PMID:17487232 More... RGD:2289120, RGD:13504707 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nppa natriuretic peptide A treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:12224825 PMID:18056528 PMID:20886221 PMID:21242511 PMID:21297083 More... RGD:7297051 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B treatment IEP
ISO
IDA
associated with Hypertension;mRNA:increased expression:heart
CTD Direct Evidence: marker/mechanism
CTD PMID:15942707 PMID:15969258 PMID:18056528 PMID:21565836 PMID:16762434 More... RGD:1642206, RGD:7297051 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension
CTD Direct Evidence: marker/mechanism
CTD PMID:20881240 PMID:9405681 RGD:737701 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase IEP protein:increased expression:heart left ventricle (rat) RGD PMID:22128088 RGD:9590202 NCBI chr  X:66,771,278...66,816,148
Ensembl chr  X:66,771,349...66,816,146
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase treatment ISO
IEP
associated with Hypertension RGD PMID:22406748 PMID:28503736 PMID:24388463 RGD:7800697, RGD:12910714, RGD:7800726 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO RGD PMID:22082674 RGD:11533929 NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
JBrowse link
G Parp2 poly (ADP-ribose) polymerase 2 treatment IEP RGD PMID:25281201 RGD:13514043 NCBI chr15:24,034,069...24,044,340
Ensembl chr15:24,034,106...24,044,338
JBrowse link
G Pde5a phosphodiesterase 5A treatment ISO RGD PMID:15665834 RGD:1581008 NCBI chr 2:210,858,515...211,003,480
Ensembl chr 2:210,858,063...210,999,701
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta IEP associated with Hypertension;protein:increased expression:heart RGD PMID:11973598 RGD:2292215 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:12963636 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
JBrowse link
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO RGD PMID:23487407 RGD:8693424 NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785
JBrowse link
G Plau plasminogen activator, urokinase treatment IDA RGD PMID:22160250 RGD:7241558 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Pld1 phospholipase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15988127 NCBI chr 2:110,849,205...111,047,692
Ensembl chr 2:110,893,608...111,047,692
JBrowse link
G Pld2 phospholipase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15988127 NCBI chr10:55,256,326...55,274,192
Ensembl chr10:55,256,359...55,272,808
JBrowse link
G Plpp3 phospholipid phosphatase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28982073 NCBI chr 5:119,927,085...120,002,206
Ensembl chr 5:119,927,085...120,002,205
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1965992 PMID:2821097 PMID:6088243 PMID:8279378 PMID:8381257 More... NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Postn periostin severity IEP mRNA,protein:increased expression:left ventricle: RGD PMID:16414453 RGD:10040951 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:22198280 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:20075336 PMID:15728586 RGD:1580656 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP
ISO
protein:increased expression:myocardium of left ventricle (rat) RGD PMID:22105890 PMID:14726475 RGD:7242192, RGD:10053662 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:12515860 RGD:734902 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO CTD Direct Evidence: therapeutic CTD PMID:18812163 NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
JBrowse link
G Prkca protein kinase C, alpha IAGP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:21565836 PMID:15792354 RGD:1581271 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
JBrowse link
G Prkcb protein kinase C, beta IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:17121852 PMID:12887134 RGD:1581276 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
JBrowse link
G Prkcd protein kinase C, delta IEP
IAGP
associated with Hypertension RGD PMID:15792354 PMID:15792354 RGD:1581271, RGD:1581271 NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352
JBrowse link
G Prkce protein kinase C, epsilon IAGP RGD PMID:15792354 RGD:1581271 NCBI chr 6:7,965,048...8,451,966
Ensembl chr 6:7,965,048...8,451,719
JBrowse link
G Prkcz protein kinase C, zeta ISO CTD Direct Evidence: therapeutic CTD PMID:27094369 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link
G Pten phosphatase and tensin homolog IEP
ISO
RGD PMID:16188065 PMID:11448956 RGD:2292549, RGD:1581282 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Pygm glycogen phosphorylase, muscle associated IEP mRNA:increased expression:cardiocyte RGD PMID:14618266 RGD:1599987 NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:16698001 PMID:16651530 RGD:1581293, RGD:1581294 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO DNA:point mutation:exon:p.D486N (mouse) RGD PMID:22826437 RGD:12910709 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
JBrowse link
G Ramp2 receptor activity modifying protein 2 IEP RGD PMID:15680493 RGD:1642686 NCBI chr10:86,187,366...86,190,692 JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor 3 susceptibility IEP
ISO
protein:increased expression:left ventricle myocardium (rat) RGD PMID:18323524 PMID:25411381 RGD:9835356, RGD:9850089 NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO RGD PMID:18420946 RGD:9686423 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17121852 NCBI chr 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005
JBrowse link
G Rcan1 regulator of calcineurin 1 IDA RGD PMID:12124198 RGD:625605 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit treatment IDA RGD PMID:15728586 PMID:15749748 RGD:1580656, RGD:1581122 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Ren renin ISO mRNA:increased expression:heart, kidney (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:20429690 PMID:20811386 PMID:15367398 RGD:6771378 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Rhoa ras homolog family member A IEP
ISO
associated with Hypertension;protein:increased activation:heart
protein:increased expression:cardiac muscle cell
RGD PMID:17184496 PMID:17316608 RGD:1642810, RGD:1642807 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased threonine phosphorylation:heart left ventricle RGD PMID:16540832 RGD:1642998 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18056528 PMID:18056528 RGD:2311701 NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
JBrowse link
G S100a1 S100 calcium binding protein A1 IDA RGD PMID:12619862 RGD:735233 NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544
JBrowse link
G S1pr1 sphingosine-1-phosphate receptor 1 IDA RGD PMID:11549339 RGD:1357201 NCBI chr 2:203,624,752...203,629,110
Ensembl chr 2:203,621,587...203,629,681
JBrowse link
G Shc1 SHC adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19168439 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G Sirt1 sirtuin 1 treatment IEP RGD PMID:25281201 RGD:13514043 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Sirt4 sirtuin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27099261 NCBI chr12:41,125,533...41,139,440
Ensembl chr12:41,131,262...41,139,439
JBrowse link
G Sirt6 sirtuin 6 IEP
ISO
CTD Direct Evidence: therapeutic CTD PMID:22335191 PMID:22335191 RGD:9586060 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914
JBrowse link
G Slc25a4 solute carrier family 25 member 4 treatment IMP associated with Hypertension RGD PMID:17210842 RGD:9681469 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22221582 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO associated with Anemia, Hemolytic RGD PMID:17056673 RGD:10450496 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO
IDA
protein:increased serine phosphorylation:heart
associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell
RGD PMID:17446477 PMID:15615841 RGD:1642725, RGD:1642713 NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19293248 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15534078 RGD:1581339 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18194989 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:heart left ventricle (human) RGD PMID:12374776 RGD:4891966 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461
JBrowse link
G Srf serum response factor ISO RGD PMID:12909581 RGD:1581425 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
JBrowse link
G Sri sorcin ISO RGD PMID:11485922 RGD:7327201 NCBI chr 4:25,973,493...25,997,879
Ensembl chr 4:25,966,750...25,998,077
JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:increased expression:cardiac muscle tissue (rat) RGD PMID:19349910 RGD:4145630 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10618415 PMID:19299911 PMID:24448315 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stk11 serine/threonine kinase 11 ISO protein:decreased expression:heart RGD PMID:17098823 RGD:1601391 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Stox1 storkhead box 1 ISO associated with Pre-Eclampsia; human gene fetally expressed in a mouse model RGD PMID:26758611 RGD:11553897 NCBI chr20:30,598,656...30,666,371
Ensembl chr20:30,598,168...30,666,939
JBrowse link
G Tbx20 T-box transcription factor 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29394407 NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA, protein:increased expression:heart RGD PMID:15542404 RGD:1581939 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP RGD PMID:10067796 RGD:2290471 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15302781 PMID:17337591 PMID:18034274 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:17556660 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
G Tomm70 translocase of outer mitochondrial membrane 70 IEP
ISO
protein:decreased expression:left ventricle myocardium
protein:decreased expression:heart
RGD PMID:25022898 PMID:25022898 RGD:13464131, RGD:13464131 NCBI chr11:43,378,719...43,417,166
Ensembl chr11:43,377,216...43,417,202
JBrowse link
G Trim63 tripartite motif containing 63 ISO CTD Direct Evidence: therapeutic CTD PMID:19168726 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
JBrowse link
G Trpc1 transient receptor potential cation channel, subfamily C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17174323 NCBI chr 8:96,263,322...96,314,197
Ensembl chr 8:96,263,329...96,314,276
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO mRNA:increased expression:heart RGD PMID:23212367 RGD:7247443 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 IEP mRNA:increased expression:heart RGD PMID:16966582 RGD:10003036 NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link
G Ubtf upstream binding transcription factor ISO RGD PMID:12885411 RGD:1580791 NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969
JBrowse link
G Ucp2 uncoupling protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:25703824 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Vldlr very low density lipoprotein receptor IEP associated with Hypertension; mRNA:decreased expression:heart ventricle RGD PMID:8603509 RGD:1625579 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
JBrowse link
G Yy1 YY1 transcription factor IDA RGD PMID:15567155 RGD:1580832 NCBI chr 6:127,706,739...127,731,907
Ensembl chr 6:127,707,596...127,732,747
JBrowse link
Caroli disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More... NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Ttc26 tetratricopeptide repeat domain 26 ISO ClinVar Annotator: match by term: Caroli disease ClinVar NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903
JBrowse link
G Wdr19 WD repeat domain 19 ISO associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma
ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
ClinVar Annotator: match by term: Carvajal syndrome
ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma
ClinVar Annotator: match by OMIM:605676
OMIM
ClinVar
CTD
PMID:8769422 PMID:9536098 PMID:10594734 PMID:11063735 PMID:11841538 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:16253912 PMID:22581653 PMID:28166811 PMID:28492532 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by OMIM:604772
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12034872 PMID:14571276 PMID:17881003 PMID:18543230 PMID:18684293 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:17107595 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by OMIM:604772
OMIM
ClinVar
PMID:9536098 PMID:11157710 PMID:11159936 PMID:11208676 PMID:12093772 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
JBrowse link
caudal regression syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Caudal dysgenesis syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Cdx2 caudal type homeo box 2 ISO ClinVar Annotator: match by term: Sirenomelia ClinVar PMID:25741868 NCBI chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Agenesis of sacrum ClinVar PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Sacral defect with anterior meningocele
ClinVar Annotator: match by term: Caudal dysgenesis syndrome
ClinVar Annotator: match by synonym: Caudal regression syndrome
OMIM
ClinVar
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 More... NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 IAGP RGD PMID:27727328 RGD:40924666 NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
JBrowse link
Central Centrifugal Cicatricial Alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chr 5:153,089,717...153,117,146
Ensembl chr 5:153,089,717...153,117,146
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: CARASIL syndrome
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by OMIM:600142
OMIM
ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
choledochal cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
CTD PMID:18988797 PMID:15830394 RGD:14700991 NCBI chr 9:22,547,396...23,037,443 JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 1:196,382,941...196,383,635
Ensembl chr 1:196,382,856...196,383,658
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
JBrowse link
chromosome 10q23 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISS OMIM:612242 MouseDO NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
JBrowse link
Chudley-Mccullough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: GPSM2-Related Disorders
ClinVar Annotator: match by term: Chudley-McCullough syndrome
CTD Direct Evidence: marker/mechanism
DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);
ClinVar Annotator: match by OMIM:604213
OMIM
ClinVar
CTD
PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 More... RGD:11062393 NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
JBrowse link
Colon Diverticulum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Colonic diverticula ClinVar NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Colon diverticula ClinVar PMID:16969106 PMID:17567834 PMID:19711436 PMID:19714490 PMID:20436704 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
Colonic Polyps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18927292 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Apc APC regulator of WNT signaling pathway IMP RGD PMID:17360473 RGD:1601201 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon IMP RGD PMID:17360473 RGD:1601201
G Ghr growth hormone receptor ISO associated with Acromegaly;DNA:deletion:exon RGD PMID:19864451 RGD:10003142 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Hdac2 histone deacetylase 2 treatment IMP
ISO
mRNA:increased expression:colon RGD PMID:24218540 PMID:19010907 RGD:9590246, RGD:9590323 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Ilk integrin-linked kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11593435 NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
JBrowse link
G Mir155 microRNA 155 ISO associated with Experimental Colitis RGD PMID:26744471 RGD:11520828 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Colon polyps ClinVar PMID:15849733 PMID:16341550 PMID:24549055 PMID:24556621 PMID:24728189 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO ClinVar Annotator: match by term: Colon polyps ClinVar PMID:25637381 NCBI chr 9:48,229,403...48,340,237
Ensembl chr 9:48,253,410...48,340,237
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Colon polyps ClinVar PMID:19479271 PMID:21376568 PMID:24027009 PMID:24033266 PMID:25186627 More... NCBI chr12:10,676,819...10,701,161
Ensembl chr12:10,676,764...10,701,066
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Colon polyps ClinVar PMID:25637381 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17823441 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 OMIM
ClinVar
PMID:15505824 NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656
JBrowse link
congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IEP protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IMP RGD PMID:22113494 RGD:6903875 NCBI chr  X:112,119,673...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Cbl Cbl proto-oncogene IEP mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chr12:8,737,198...8,805,026 JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD
ClinVar
PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Eln elastin IEP mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Ep300 E1A binding protein p300 IEP mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD
ClinVar
PMID:20938900 PMID:25741868 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO
IEP
DNA:deletion, frame shift:cds, splice junction:
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm:
ClinVar
CTD
PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 More... RGD:11554181, RGD:11554195, RGD:11554181 NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23426975 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Gata6 GATA binding protein 6 IEP
ISO
mRNA:decreased expression:heart (rat)
ClinVar Annotator: match by term: DIH
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar PMID:22158542 PMID:24385578 PMID:18280291 RGD:9068407 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igf2 insulin-like growth factor 2 treatment IEP RGD PMID:24352370 RGD:10402563 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP RGD PMID:19844724 RGD:10402761 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 IEP RGD PMID:19844724 RGD:10402761 NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704
JBrowse link
G Kif7 kinesin family member 7 IEP
ISS
mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO PMID:25921351 RGD:11553839 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Lcn2 lipocalin 2 IEP
ISO
mRNA:decreased expression:lung
protein:decreased expression:amniotic fluid
RGD PMID:27592368 PMID:27592368 RGD:126790533, RGD:126790533 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G LOC100911068 roundabout homolog 4-like ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 8:37,119,966...37,133,887 JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:31834374 NCBI chr12:45,184,060...45,220,102
Ensembl chr12:45,183,085...45,221,651
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 More... NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Slit3 slit guidance ligand 3 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634
JBrowse link
G Sod1 superoxide dismutase 1 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sox7 SRY-box transcription factor 7 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:38,180,503...38,187,264
Ensembl chr15:38,180,503...38,187,264
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:10541330 RGD:12904053 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vegfa vascular endothelial growth factor A IEP protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21072664 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7
OMIM
ClinVar
PMID:28991257 PMID:30232381 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
JBrowse link
corpus callosum agenesis-abnormal genitalia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Proud syndrome
ClinVar Annotator: match by term: Proud Levine Carpenter syndrome
OMIM
ClinVar
PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 More... NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
ClinVar Annotator: match by OMIM:300472
OMIM
ClinVar
PMID:14556245 PMID:25741868 NCBI chr  X:65,582,832...65,605,078
Ensembl chr  X:65,582,821...65,606,049
JBrowse link
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
ClinVar
OMIM
PMID:25388005 PMID:25741868 NCBI chr17:73,667,787...74,258,487 JBrowse link
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome ClinVar PMID:23610050 PMID:25326635 PMID:25741868 PMID:26129644 PMID:28940926 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
JBrowse link
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by OMIM:614564 OMIM
ClinVar
PMID:22341969 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
JBrowse link
Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27072130 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by OMIM:125595 OMIM
ClinVar
PMID:1303619 PMID:16960809 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISS OMIM:166950 MouseDO NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Agtr1b angiotensin II receptor, type 1b ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr 2:102,844,969...102,920,232
Ensembl chr 2:102,844,969...102,920,232
JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chr 7:130,722,675...130,726,207
Ensembl chr 7:130,721,748...130,726,209
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868 NCBI chr12:8,737,198...8,805,026 JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Diaphragmatic hernia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18280291 PMID:22158542 PMID:24385578 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Hoxa5 homeo box A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr 4:81,302,341...81,306,234
Ensembl chr 4:81,302,353...81,306,234
JBrowse link
G Hoxb3 homeo box B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr10:81,258,739...81,314,134
Ensembl chr10:81,299,357...81,313,107
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 3:155,820,255...155,913,383
Ensembl chr 3:155,822,963...155,916,194
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr15:302,078...1,001,198
Ensembl chr15:302,214...1,001,198
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Diaphragmatic hernia ClinVar PMID:25741868 PMID:31834374 NCBI chr12:45,184,060...45,220,102
Ensembl chr12:45,183,085...45,221,651
JBrowse link
G Myod1 myogenic differentiation 1 IEP mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
JBrowse link
G Nkx2-1 NK2 homeobox 1 IEP
ISO
mRNA, protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:10830305 PMID:16863852 PMID:17245593 RGD:1600158 NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO
mRNA, protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:7576705 PMID:8863223 PMID:7576705 RGD:5132862 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
JBrowse link
G Pax3 paired box 3 IEP mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
G Rxra retinoid X receptor alpha IEP mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
JBrowse link
G Sftpb surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP
ISO
protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:10646786 PMID:19635314 RGD:4145129 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr14:41,485,033...41,495,590
Ensembl chr14:41,485,031...41,495,590
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
JBrowse link
Diaphragmatic Hernia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia 3
ClinVar Annotator: match by OMIM:610187
OMIM
ClinVar
PMID:14517948 PMID:16103912 PMID:17568391 PMID:20807224 PMID:21919901 More... NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
JBrowse link
Dilatation, Pathologic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp1 caspase 1 ISO associated with Heart Failure, Congestive RGD PMID:17303764 RGD:2315913 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Hmox1 heme oxygenase 1 IDA RGD PMID:15057912 RGD:1580452 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G