Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:male reproductive system disease
go back to main search page
Accession:DOID:48 term browser browse the term
Definition:Pathological processes involving the male reproductive tract (GENITALIA, MALE).
Synonyms:exact_synonym: male genital disease;   male genital diseases
 primary_id: MESH:D005832
 alt_id: RDO:0002290
 xref: ICD10CM:N50.9;   ICD9CM:608.9;   OMIM:PS277180
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
male reproductive system disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25434310 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Carnevale syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:265050
OMIM
ClinVar
CTD
PMID:2569826, PMID:8933348, PMID:21258343, PMID:25741868 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:8528239, PMID:8571951, PMID:8931695, PMID:9342225, PMID:10465113, PMID:10482955, PMID:11241838, PMID:11303514, PMID:11448940, PMID:11565064, PMID:12525546, PMID:12966518, PMID:15294877, PMID:15316973, PMID:16642506, PMID:18708426, PMID:18925670, PMID:20219950, PMID:20301524, PMID:20525296, PMID:21077202, PMID:21077204, PMID:21155763, PMID:21922596, PMID:22052783, PMID:23840040, PMID:24033266, PMID:24598000, PMID:25741868, PMID:27065010, PMID:28492532, PMID:29024831 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
acquired immunodeficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A treatment ISO DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
DNA:SNP: : rs10276036(human)
RGD PMID:23372834, PMID:24517233 RGD:39456119, RGD:11098698 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO DNA:SNPs: : RGD PMID:26885809 RGD:14398494 NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO DNA:SNP:3' utr:rs1719153 (human) RGD PMID:16773571 RGD:5683896 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to ClinVar PMID:9742978, PMID:12610055, PMID:12815099 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd209 CD209 molecule disease_progression ISO associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) RGD PMID:17530998 RGD:39939010 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:9499800 RGD:11344976 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:20127180 RGD:5688740 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO associated with pulmonary tuberculosis;protein:increased expression:blood (human) RGD PMID:32369456 RGD:39939073 NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
CTD
ClinVar
PMID:9612607, PMID:12854077 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:decreased expression:plasma RGD PMID:11232005 RGD:5509969 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9861562 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4r interleukin 4 receptor ISO ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, slow progression to ClinVar PMID:2278997, PMID:2307934, PMID:9620765, PMID:15712015, PMID:16189667 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 severity ISO DNA:missense mutation:cds: p.I47V (rs643347) (human) RGD PMID:29461980 RGD:38676267 NCBI chr 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
JBrowse link
G LOC100364500 RT1 class I, locus CE11-like susceptibility ISO DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27382604 RGD:40818276 NCBI chr20:5,170,169...5,175,773
Ensembl chr20:5,170,215...5,175,773
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8548330 RGD:12904035 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:8548330 RGD:12904035 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:8548330 RGD:12904035 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Gc GC, vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
AIDS-Associated Nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:2 RGD:1303381 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:2 RGD:1303381 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:19357719 RGD:6906909 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Hp haptoglobin ISO protein:increased expression:urine RGD PMID:19279121 RGD:11041816 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23678040, PMID:23678040 RGD:7245474, RGD:7245474 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Notch4 notch receptor 4 IEP protein: increased expression: kidney RGD PMID:20706108 RGD:6480788 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment ISO RGD PMID:19188342, PMID:17229913 RGD:38596324, RGD:38599164 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
JBrowse link
AIDS-Related Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klrk1 killer cell lectin like receptor K1 treatment ISO RGD PMID:23018378 RGD:39018554 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
AIDS-Related Opportunistic Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:9546790 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559, PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559, PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
G Serpinf1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Aromatase deficiency
ClinVar Annotator: match by OMIM:613546
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1496995, PMID:1825497, PMID:2973313, PMID:8265607, PMID:8530621, PMID:9177373, PMID:9211678, PMID:9718379, PMID:10566648, PMID:12466340, PMID:14715828, PMID:16882736, PMID:17164303, PMID:20048079, PMID:20186154, PMID:22992668, PMID:23329769, PMID:25088806, PMID:25415177, PMID:25793413, PMID:26191232, PMID:27256151, PMID:28492532 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
Asthenozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26181198 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Cfap251 cilia and flagella associated protein 251 ISO ClinVar Annotator: match by term: asthenozoospermia ClinVar PMID:30122541 NCBI chr12:38,708,915...38,781,598
Ensembl chr12:38,709,595...38,782,010
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19303595 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Plau plasminogen activator, urokinase IEP
ISO
mRNA, protein:decreased expression:testes, epididymis (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:18998460, PMID:18998460 RGD:7241809 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
atrophy of testis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l2 Bcl2-like 2 ISO RGD PMID:9500547 RGD:734642 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
autosomal recessive congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar PMID:25741868, PMID:27476656 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation ClinVar
OMIM
PMID:1283148, PMID:1283149, PMID:1284534, PMID:1284538, PMID:1284540, PMID:1370365, PMID:1370875, PMID:1376016, PMID:1377276, PMID:1379413, PMID:1380673, PMID:1381146, PMID:1381723, PMID:1382316, PMID:1384321, PMID:1536179, PMID:1545465, PMID:1673094, PMID:1678049, PMID:1695717, PMID:1709778, PMID:1710599, PMID:1710600, PMID:1712898, PMID:1721624, PMID:1756602, PMID:1757966, PMID:1903761, PMID:1937486, PMID:1997384, PMID:1999830, PMID:2135388, PMID:2210767, PMID:2210768, PMID:2210769, PMID:2220803, PMID:2233932, PMID:2236053, PMID:2267887, PMID:2300168, PMID:2344617, PMID:2349952, PMID:2378364, PMID:2397487, PMID:2475911, PMID:2565038, PMID:2570460, PMID:5371902, PMID:7475569, PMID:7493947, PMID:7504969, PMID:7506096, PMID:7508414, PMID:7512860, PMID:7513889, PMID:7515303, PMID:7520798, PMID:7522211, PMID:7522329, PMID:7529319, PMID:7529962, PMID:7532150, PMID:7534040, PMID:7536669, PMID:7537147, PMID:7537148, PMID:7539080, PMID:7539342, PMID:7542778, PMID:7543317, PMID:7544319, PMID:7544320, PMID:7544788, PMID:7545869, PMID:7550243, PMID:7551394, PMID:7573058, PMID:7599637, PMID:7680378, PMID:7680769, PMID:7683628, PMID:7684641, PMID:7684646, PMID:7689009, PMID:7691344, PMID:7691345, PMID:7691356, PMID:7692051, PMID:7739684, PMID:8343799, PMID:8421472, PMID:8528204, PMID:8530001, PMID:8556303, PMID:8605891, PMID:8662892, PMID:8698344, PMID:8702904, PMID:8707306, PMID:8825494, PMID:8825927, PMID:8829643, PMID:8834261, PMID:8863168, PMID:8910333, PMID:8947061, PMID:9003498, PMID:9003508, PMID:9043501, PMID:9056552, PMID:9099843, PMID:9135274, PMID:9150159, PMID:9164051, PMID:9239681, PMID:9254864, PMID:9259194, PMID:9259197, PMID:9272157, PMID:9272738, PMID:9305991, PMID:9435322, PMID:9439669, PMID:9507391, PMID:9521595, PMID:9550361, PMID:9550362, PMID:9557894, PMID:9620832, PMID:9683582, PMID:9725922, PMID:9736778, PMID:9804160, PMID:9921909, PMID:9950364, PMID:9950763, PMID:10103316, PMID:10200050, PMID:10204861, PMID:10206682, PMID:10341008, PMID:10376575, PMID:10386624, PMID:10388469, PMID:10401194, PMID:10445602, PMID:10480369, PMID:10556281, PMID:10571955, PMID:10601093, PMID:10652351, PMID:10653141, PMID:10668931, PMID:10719683, PMID:10755189, PMID:10762539, PMID:10782933, PMID:10798368, PMID:10801389, PMID:10834512, PMID:10875853, PMID:10875876, PMID:10909845, PMID:10922395, PMID:10923036, PMID:10970190, PMID:10980579, PMID:11005149, PMID:11069835, PMID:11101688, PMID:11118444, PMID:11168024, PMID:11180668, PMID:11242048, PMID:11278813, PMID:11280952, PMID:11354633, PMID:11379874, PMID:11388756, PMID:11430710, PMID:11446424, PMID:11448786, PMID:11466205, PMID:11491164, PMID:11504857, PMID:11523757, PMID:11547256, PMID:11597353, PMID:11729110, PMID:11737931, PMID:11746017, PMID:11810271, PMID:11883825, PMID:11938439, PMID:12007216, PMID:12070257, PMID:12120234, PMID:12127423, PMID:12133923, PMID:12172395, PMID:12200467, PMID:12437773, PMID:12439892, PMID:12452372, PMID:12503104, PMID:12578973, PMID:12658038, PMID:12719375, PMID:12732620, PMID:12752573, PMID:12767731, PMID:12815607, PMID:12833420, PMID:12843327, PMID:12865275, PMID:12919146, PMID:12940920, PMID:12952861, PMID:12955726, PMID:14526128, PMID:14685937, PMID:14963811, PMID:14993601, PMID:14998948, PMID:15024729, PMID:15070876, PMID:15084222, PMID:15084988, PMID:15097853, PMID:15121783, PMID:15126740, PMID:15141088, PMID:15176679, PMID:15221447, PMID:15246977, PMID:15287992, PMID:15354332, PMID:15367919, PMID:15371902, PMID:15371903, PMID:15371907, PMID:15463840, PMID:15463907, PMID:15480987, PMID:15482777, PMID:15520400, PMID:15536480, PMID:15537723, PMID:15619636, PMID:15638824, PMID:15645635, PMID:15698946, PMID:15705292, PMID:15744523, PMID:15758663, PMID:15772171, PMID:15776432, PMID:15784035, PMID:15829248, PMID:15858154, PMID:15880796, PMID:15905293, PMID:15948195, PMID:15952991, PMID:15987793, PMID:15994263, PMID:16020494, PMID:16049310, PMID:16126774, PMID:16187186, PMID:16189704, PMID:16196493, PMID:16263954, PMID:16272798, PMID:16339147, PMID:16429425, PMID:16435054, PMID:16436643, PMID:16596947, PMID:16617247, PMID:16678503, PMID:16778595, PMID:16784904, PMID:16801189, PMID:16840743, PMID:16931591, PMID:16980811, PMID:17003641, PMID:17015492, PMID:17035430, PMID:17098482, PMID:17137500, PMID:17175965, PMID:17206681, PMID:17234733, PMID:17235394, PMID:17272608, PMID:17314234, PMID:17329263, PMID:17331079, PMID:17353351, PMID:17380060, PMID:17407489, PMID:17413420, PMID:17449517, PMID:17481968, PMID:17489851, PMID:17495464, PMID:17507277, PMID:17539902, PMID:17572159, PMID:17594397, PMID:17594398, PMID:17662673, PMID:17692578, PMID:17718859, PMID:17850636, PMID:17975025, PMID:18301294, PMID:18304229, PMID:18305154, PMID:18306312, PMID:18373402, PMID:18421494, PMID:18456578, PMID:18463704, PMID:18507830, PMID:18567645, PMID:18639722, PMID:18685558, PMID:18687795, PMID:18703181, PMID:18716917, PMID:18722008, PMID:18796364, PMID:18951463, PMID:19014821, PMID:19092437, PMID:19166122, PMID:19202204, PMID:19318035, PMID:19318346, PMID:19406970, PMID:19707853, PMID:19710401, PMID:19724303, PMID:19734299, PMID:19810821, PMID:19812525, PMID:19843100, PMID:19846789, PMID:19880712, PMID:19885835, PMID:19893581, PMID:19897426, PMID:19914443, PMID:20021716, PMID:20059485, PMID:20100616, PMID:20301428, PMID:20351101, PMID:20381036, PMID:20416310, PMID:20460946, PMID:20522854, PMID:20538955, PMID:20595578, PMID:20622033, PMID:20657600, PMID:20659818, PMID:20691141, PMID:20705837, PMID:20722470, PMID:20797923, PMID:20837875, PMID:20846557, PMID:20880762, PMID:20932301, PMID:20976528, PMID:20977904, PMID:21083385, PMID:21131649, PMID:21152102, PMID:21184098, PMID:21228398, PMID:21233271, PMID:21416780, PMID:21483833, PMID:21507732, PMID:21520337, PMID:21538969, PMID:21602569, PMID:21658649, PMID:21679131, PMID:21825083, PMID:21976485, PMID:21983161, PMID:22020151, PMID:22043142, PMID:22047557, PMID:22148899, PMID:22156145, PMID:22210114, PMID:22293084, PMID:22318583, PMID:22383668, PMID:22427236, PMID:22439019, PMID:22468138, PMID:22483971, PMID:22504961, PMID:22658665, PMID:22664493, PMID:22678879, PMID:22724884, PMID:22768251, PMID:22842702, PMID:22892530, PMID:22942289, PMID:22975760, PMID:22981120, PMID:22992668, PMID:22995991, PMID:23017188, PMID:23027855, PMID:23055971, PMID:23076339, PMID:23082198, PMID:23104983, PMID:23276700, PMID:23313410, PMID:23361109, PMID:23378603, PMID:23381846, PMID:23420618, PMID:23430892, PMID:23457292, PMID:23466340, PMID:23514810, PMID:23523379, PMID:23590265, PMID:23687349, PMID:23751316, PMID:23757359, PMID:23757361, PMID:23810505, PMID:23857699, PMID:23883480, PMID:23891399, PMID:23924900, PMID:23951356, PMID:23974870, PMID:24033266, PMID:24058550, PMID:24066763, PMID:24081349, PMID:24204751, PMID:24418186, PMID:24440181, PMID:24440239, PMID:24461666, PMID:24559724, PMID:24586523, PMID:24631642, PMID:24697796, PMID:24813944, PMID:24816901, PMID:24836205, PMID:24958810, PMID:24973281, PMID:25024266, PMID:25033378, PMID:25042876, PMID:25049054, PMID:25060775, PMID:25066652, PMID:25087612, PMID:25122143, PMID:25145599, PMID:25148434, PMID:25171465, PMID:25251442, PMID:25266159, PMID:25287046, PMID:25304080, PMID:25308578, PMID:25311995, PMID:25383785, PMID:25473543, PMID:25489051, PMID:25492507, PMID:25583415, PMID:25651269, PMID:25682022, PMID:25698453, PMID:25704068, PMID:25735457, PMID:25741868, PMID:25741869, PMID:25754095, PMID:25755212, PMID:25781545, PMID:25797027, PMID:25824995, PMID:25826586, PMID:25867140, PMID:25869325, PMID:25880441, PMID:25905921, PMID:25910067, PMID:25981758, PMID:26003066, PMID:26014425, PMID:26070913, PMID:26087176, PMID:26135562, PMID:26199320, PMID:26208274, PMID:26277102, PMID:26324139, PMID:26436105, PMID:26437683, PMID:26467025, PMID:26474553, PMID:26526220, PMID:26568242, PMID:26574590, PMID:26618866, PMID:26631874, PMID:26651825, PMID:26708955, PMID:26755536, PMID:26823392, PMID:26846474, PMID:26847993, PMID:26946416, PMID:26968770, PMID:26990548, PMID:27086061, PMID:27158673, PMID:27171515, PMID:27209008, PMID:27214033, PMID:27214204, PMID:27222777, PMID:27264265, PMID:27298017, PMID:27334259, PMID:27469177, PMID:27659740, PMID:27707539, PMID:27728908, PMID:27738188, PMID:27745802, PMID:27773592, PMID:27805836, PMID:27812499, PMID:27898234, PMID:28129809, PMID:28129811, PMID:28196530, PMID:28325531, PMID:28371569, PMID:28408918, PMID:28419121, PMID:28492532, PMID:28502372, PMID:28544683, PMID:28546993, PMID:28603918, PMID:28606620, PMID:28611235, PMID:28651844, PMID:28711222, PMID:28736296, PMID:28771972, PMID:28785019, PMID:28800122, PMID:28801929, PMID:28830496, PMID:28947035, PMID:29099333, PMID:29126871, PMID:29168366, PMID:29261177, PMID:29279204, PMID:29327948, PMID:29451946, PMID:29497617, PMID:29504914, PMID:29520692, PMID:29589582, PMID:29590070, PMID:29805046, PMID:29807875, PMID:30046002, PMID:30134826, PMID:30311386, PMID:30548586, PMID:30561903, PMID:30698611, PMID:30873022, PMID:30888834, PMID:30930780, PMID:31005549, PMID:31759907, PMID:31776420, PMID:31808782, PMID:31883651, PMID:31978131, PMID:32357917 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
JBrowse link
azoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:27289041 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Aurkc aurora kinase C ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 1:69,958,452...69,964,546
Ensembl chr 1:69,958,452...69,963,592
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20610805 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l2 Bcl2-like 2 ISO RGD PMID:9770502 RGD:14394611 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Brdt bromodomain testis associated susceptibility ISO protein:decreased expression:testis:
DNA:SNP: :rs3088232(human)
RGD PMID:22035730, PMID:22016351 RGD:9586359, RGD:9586360 NCBI chr14:3,437,876...3,462,613
Ensembl chr14:3,405,995...3,462,629
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IMP RGD PMID:25934999 RGD:11085488 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Bscl2m1Kyo BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo IMP RGD PMID:25934999 RGD:11085488
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10856487 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3' utr:c.8092C>A (human) RGD PMID:18616887 RGD:13207429 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISS OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 MouseDO NCBI chr20:33,471,355...33,521,281
Ensembl chr20:33,471,351...33,521,311
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO mRNA:increased expression:testis RGD PMID:9851691 RGD:13792783 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Nlrp14 NLR family, pyrin domain containing 14 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:16931801, PMID:20981092, PMID:22344438, PMID:24033266, PMID:25741868 NCBI chr 1:171,305,558...171,340,428
Ensembl chr 1:171,306,049...171,340,493
JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar PMID:20506135, PMID:28492532, PMID:28718531 NCBI chr 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
JBrowse link
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Spermatogenic Failure ClinVar NCBI chr 2:112,281,326...112,659,911
Ensembl chr 2:112,281,376...112,659,927
JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spermatogenic Failure
CTD
ClinVar
PMID:14643120 NCBI chr 7:29,029,887...29,044,344
Ensembl chr 7:29,029,263...29,044,251
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15930273, PMID:17376864, PMID:19366826, PMID:21824802, PMID:22120714, PMID:22729224, PMID:22949682, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:28941273, PMID:30311386, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pten phosphatase and tensin homolog ISO
ISS
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
OMIM:153480
ClinVar
MouseDO
PMID:9140396, PMID:9241266, PMID:9259288, PMID:9399897, PMID:9467011, PMID:9598803, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10555148, PMID:10749983, PMID:10848731, PMID:10920277, PMID:10923032, PMID:11238682, PMID:11504908, PMID:11685670, PMID:12844284, PMID:14518070, PMID:15016963, PMID:15211648, PMID:15254419, PMID:15647370, PMID:15805158, PMID:16952599, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17526800, PMID:17873882, PMID:18558293, PMID:18725974, PMID:19265751, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19458356, PMID:19668082, PMID:19829307, PMID:19903786, PMID:20018398, PMID:20085938, PMID:20453058, PMID:20619739, PMID:20881644, PMID:21194675, PMID:21956414, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22381246, PMID:22479427, PMID:22491738, PMID:23335809, PMID:23349303, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25288137, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:26773036, PMID:27426521, PMID:27477328, PMID:28286253, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
Castration-Resistant Prostatic Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c3 aldo-keto reductase family 1, member C3 ISO mRNA,protein:increased expression:epithelial cell:
CTD Direct Evidence: marker/mechanism
CTD PMID:25555457, PMID:23196782 RGD:10053626 NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985049, PMID:24740322, PMID:28500234, PMID:28757136 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Asf1b anti-silencing function 1B histone chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr19:25,077,918...25,092,491
Ensembl chr19:25,077,918...25,092,491
JBrowse link
G Ccne2 cyclin E2 treatment ISO RGD PMID:27431942 RGD:13504681 NCBI chr 5:24,434,077...24,446,406
Ensembl chr 5:24,434,872...24,446,406
JBrowse link
G Cd46 CD46 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30185663 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cenpk centromere protein K ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr 2:34,312,766...34,373,945
Ensembl chr 2:34,312,766...34,335,776
JBrowse link
G Chd1 chromodomain helicase DNA binding protein 1 ISO DNA:mutations: : RGD PMID:22722839 RGD:9587749 NCBI chr 1:57,692,828...57,756,762
Ensembl chr 1:57,692,836...57,755,485
JBrowse link
G Kdm1a lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex treatment ISO RGD PMID:28498618 RGD:28867238 NCBI chr13:87,818,456...87,847,223
Ensembl chr13:87,818,391...87,847,263
JBrowse link
G Trim24 tripartite motif-containing 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27238081 NCBI chr 4:65,632,278...65,684,746
Ensembl chr 4:65,637,407...65,684,743
JBrowse link
G Zfp217 zinc finger protein 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr 3:166,981,419...167,022,349
Ensembl chr 3:166,983,220...166,994,286
JBrowse link
G Zfp367 zinc finger protein 367 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29581250 NCBI chr17:1,652,892...1,672,021
Ensembl chr17:1,652,895...1,672,021
JBrowse link
chlamydia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:16118671 RGD:8549760 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20102413 RGD:5132268 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Foxp3 forkhead box P3 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:19728926 RGD:4145507 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO mRNA:increased expression:lung (mouse) RGD PMID:30832593, PMID:31249813 RGD:38455984, RGD:39938856 NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21573182 RGD:5684365 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A ISO associated with Bronchial Hyprractivity; mRNA:increased expression:lung RGD PMID:20228193, PMID:19812198 RGD:4888528, RGD:4889101 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30832593 RGD:38455984 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
congenital bilateral absence of vas deferens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642
JBrowse link
G Cftr CF transmembrane conductance regulator ISO
IMP
CTD Direct Evidence: marker/mechanism
associated with Cystic Fibrosis
DNA:deletion, missense mutations: :multiple
DNA:deletion, nonsense mutations, missense mutations: :multiple
CTD PMID:10875853, PMID:11119745, PMID:24608905, PMID:10653141, PMID:11119745 RGD:11566051, RGD:11566040, RGD:11566027 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
Coronary Artery Disease, Development of, in HIV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO ClinVar Annotator: match by null ClinVar PMID:11500196, PMID:15466648, PMID:16352737, PMID:16596675, PMID:18940815 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
cryptorchidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP RGD PMID:24983376 RGD:13434925
G Anxa5 annexin A5 IEP protein:increased expression: seminiferous tubulle RGD PMID:19376566 RGD:10053693 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Ar androgen receptor ISO DNA:repeats:exon RGD PMID:15472213, PMID:15757859 RGD:1578685, RGD:11576231 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr11:61,531,386...61,584,634
Ensembl chr11:61,531,416...61,584,634
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cryptorchidism
CTD
ClinVar
PMID:7697714, PMID:19291773, PMID:25741868 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Casp3 caspase 3 ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:26050606, PMID:29606031 RGD:13792609 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:10338090, PMID:12124992, PMID:15365998, PMID:16479318, PMID:25741868, PMID:28492532, PMID:29352562, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22077972 NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:16826531, PMID:22167768, PMID:24038971, PMID:25608830, PMID:25741868, PMID:25957469, PMID:26752647, PMID:27245440, PMID:30311386 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cryptorchism ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Unilateral cryptorchidism ClinVar PMID:30311386 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Dusp6 dual specificity phosphatase 6 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:23643382, PMID:30311386 NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
JBrowse link
G Esr1 estrogen receptor 1 IEP mRNA:decreased expression:testis RGD PMID:20951417 RGD:8553220 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:29606031 RGD:13792609 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 2:189,654,871...189,735,056
Ensembl chr 2:189,655,702...189,733,540
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Gfer growth factor, augmenter of liver regeneration IEP protein:decreased expression:male germ cell: RGD PMID:17918708 RGD:9685739 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Cryptorchism ClinVar PMID:10338095, PMID:10737981, PMID:15714521, PMID:16941474, PMID:17309651, PMID:17664528, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
JBrowse link
G Hoxd13 homeo box D13 ISO DNA:splice-site mutation:exon:180A>G (human) RGD PMID:17216618 RGD:12743597 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Hsf1 heat shock transcription factor 1 IEP protein:increased expression:testis, spermatocyte, nucleus (rat) RGD PMID:21480429 RGD:10402945 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Htra2 HtrA serine peptidase 2 IEP RGD PMID:16563141 RGD:10402928 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased expression:testis (rat) RGD PMID:7473418 RGD:12904727 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Insl3 insulin-like 3 ISO idiopathic cryptorchidism, OMIM:219050
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:219050
CTD
ClinVar
OMIM
PMID:11095425, PMID:11746019, PMID:12601553, PMID:12970298, PMID:14687758, PMID:16102138, PMID:12601553 RGD:1600162 NCBI chr16:20,120,753...20,122,702
Ensembl chr16:20,121,352...20,122,696
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kdm5a lysine demethylase 5A IEP mRNA:increased expression:testes (rat) RGD PMID:24679876 RGD:9588526 NCBI chr 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Bilateral cryptorchidism
ClinVar Annotator: match by term: Cryptorchidism
ClinVar PMID:17164310, PMID:23349759, PMID:29452377, PMID:30311386 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26386044, PMID:26386247, PMID:26437029, PMID:28125082, PMID:28492532, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Cryptorchidism
ClinVar Annotator: match by term: Cryptorchism
ClinVar PMID:9288094, PMID:9288758, PMID:9781020, PMID:10364520, PMID:10787449, PMID:11464248, PMID:15643295, PMID:15942916, PMID:16498449, PMID:16785446, PMID:16889173, PMID:18353061, PMID:19790133, PMID:20008920, PMID:20041150, PMID:21290976, PMID:22037353, PMID:22337722, PMID:22903357, PMID:23010357, PMID:23070486, PMID:23325590, PMID:23334425, PMID:23867542, PMID:23907647, PMID:24117178, PMID:24318677, PMID:25203624, PMID:25741868, PMID:26247045, PMID:26554556, PMID:26620106, PMID:27030597, PMID:27838405, PMID:28421071, PMID:28492532, PMID:29178647, PMID:29260407, PMID:29599418, PMID:30171907, PMID:30311386, PMID:31411330 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mfsd2a major facilitator superfamily domain containing 2A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 5:140,642,865...140,657,759
Ensembl chr 5:140,642,885...140,657,745
JBrowse link
G Msx1 msh homeobox 1 IEP RGD PMID:18222913 RGD:5132606 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr10:10,761,477...10,766,096
Ensembl chr10:10,761,477...10,766,095
JBrowse link
G Rxfp2 relaxin family peptide receptor 2 ISO
ISS
bilateral cryptorchidism, OMIM:219050
ClinVar Annotator: match by OMIM:219050
MouseDO
ClinVar
PMID:12217959, PMID:12970298, PMID:20636340, PMID:12217959 RGD:1600187 NCBI chr12:6,016,884...6,078,411
Ensembl chr12:6,016,884...6,078,411
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:158,979,081...159,045,019
Ensembl chr  X:158,978,755...159,045,044
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Undescended testis ClinVar PMID:28067909 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
G Sts steroid sulfatase IEP protein:increased expression:scrotum, testis RGD PMID:2576297 RGD:1601402 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 IAGP DNA:deletion:exon: RGD PMID:26502805 RGD:12911229 NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868, PMID:28492532, PMID:30564332 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:30311386 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:18954413, PMID:25741868, PMID:30744660, PMID:32581362 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:20074521, PMID:25741868, PMID:30311386 NCBI chr19:56,220,759...56,229,813
Ensembl chr19:56,220,755...56,229,813
JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Cryptorchism ClinVar PMID:1024343, PMID:30311386 NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276
JBrowse link
CRYPTOZOOSPERMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M1ap meiosis 1 associated protein ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868 NCBI chr 4:113,772,716...113,864,171
Ensembl chr 4:113,782,206...113,863,224
JBrowse link
G Sycp2 synaptonemal complex protein 2 ISO ClinVar Annotator: match by term: Cryptozoospermia ClinVar PMID:25741868, PMID:31866047 NCBI chr 3:173,884,559...173,948,304
Ensembl chr 3:173,884,287...173,947,018
JBrowse link
epididymitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta IEP RGD PMID:29311626 RGD:13792835 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 IEP RGD PMID:29311626 RGD:13792835 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:29311626 RGD:13792835 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Experimental Autoimmune Orchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:testis (rat) RGD PMID:14638441 RGD:1358455 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 IDA RGD PMID:16092147 RGD:1624236 NCBI chr10:35,872,619...35,879,911
Ensembl chr10:35,870,232...35,879,910
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:16092147 RGD:1624236 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Inha inhibin subunit alpha IEP protein:decreased expression:serum: RGD PMID:11431143 RGD:8694089 NCBI chr 9:82,700,482...82,703,383
Ensembl chr 9:82,700,468...82,703,400
JBrowse link
G Serpina1 serpin family A member 1 IEP protein:increased expression:serum RGD PMID:16092147 RGD:1624236 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
Familial Prostate Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr19:10,423,534...10,460,674
Ensembl chr19:10,423,501...10,460,674
JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: Prostate cancer susceptibility ClinVar PMID:8530589, PMID:10589774, PMID:11103816 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr  X:26,314,561...26,845,242
Ensembl chr  X:26,315,878...26,376,467
JBrowse link
G Atat1 alpha tubulin acetyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr20:3,351,269...3,364,565
Ensembl chr20:3,351,303...3,364,565
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 8:27,777,024...27,804,368
Ensembl chr 8:27,777,179...27,804,515
JBrowse link
G Bcas1 brain enriched myelin associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 3:167,957,994...168,033,462
Ensembl chr 3:167,957,994...168,033,457
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l11 BCL2 like 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 3:120,726,906...120,764,192
Ensembl chr 3:120,726,906...120,764,192
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Cdca7 cell division cycle associated 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 3:59,153,281...59,163,916
Ensembl chr 3:59,153,280...59,163,913
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961571, PMID:16189707 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12533788 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Col23a1 collagen type XXIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr10:34,846,618...34,934,991
Ensembl chr10:34,903,343...34,933,539
JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 no_association ISO RGD PMID:15180491 RGD:5685600 NCBI chr12:11,641,500...11,677,818
Ensembl chr12:11,655,402...11,733,136
JBrowse link
G Dennd4b DENN domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 2:189,626,922...189,642,732
Ensembl chr 2:189,629,297...189,642,183
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Dock2 dedicator of cytokinesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr10:19,181,512...19,603,171 JBrowse link
G Emsy EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:163,541,071...163,618,576
Ensembl chr 1:163,545,326...163,611,299
JBrowse link
G Fbrsl1 fibrosin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr12:52,289,979...52,378,726
Ensembl chr12:52,356,832...52,377,475
JBrowse link
G Hoxb13 homeo box B13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prostate cancer susceptibility
CTD
ClinVar
PMID:8756292, PMID:15964834, PMID:17138648, PMID:22236224, PMID:22714738, PMID:22781434, PMID:22841674, PMID:22853031, PMID:23064873, PMID:23292082, PMID:23457453, PMID:23518396, PMID:24026887, PMID:25206306, PMID:25629170, PMID:26108461, PMID:26517352, PMID:26845104, PMID:27153395, PMID:27424772, PMID:27902461, PMID:28492532, PMID:28798948 NCBI chr10:84,031,955...84,034,228
Ensembl chr10:84,031,955...84,034,228
JBrowse link
G Incenp inner centromere protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:225,923,448...225,953,384
Ensembl chr 1:225,925,773...225,952,516
JBrowse link
G Itgb8 integrin subunit beta 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 6:147,089,280...147,172,846
Ensembl chr 6:147,094,097...147,172,813
JBrowse link
G Kdm2a lysine demethylase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:219,566,130...219,642,294
Ensembl chr 1:219,566,156...219,640,294
JBrowse link
G Larp4b La ribonucleoprotein 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr17:63,236,007...63,317,298
Ensembl chr17:63,265,407...63,314,019
JBrowse link
G LOC100911204 protein CASC5-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 3:112,531,429...112,560,698
Ensembl chr 3:112,531,703...112,560,634
JBrowse link
G Mad1l1 mitotic arrest deficient 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr12:16,410,083...16,721,232
Ensembl chr12:16,410,083...16,719,824
JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr18:65,814,026...65,885,115
Ensembl chr18:65,814,026...65,885,114
JBrowse link
G Mbnl1 muscleblind-like splicing regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 2:150,698,248...150,867,791
Ensembl chr 2:150,756,185...150,869,690
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Mob2 MOB kinase activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:214,953,992...214,962,106
Ensembl chr 1:214,954,553...214,971,929
JBrowse link
G Myo9b myosin IXb ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr16:19,669,373...19,754,065
Ensembl chr16:19,669,411...19,754,069
JBrowse link
G Pax9 paired box 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 6:77,607,705...77,624,453
Ensembl chr 6:77,608,624...77,621,719
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 8:39,361,698...39,551,700
Ensembl chr 8:39,361,218...39,551,700
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:81,966,791...82,049,116
Ensembl chr 1:81,964,104...82,004,538
JBrowse link
G Ppfibp2 PPFIA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:171,816,231...171,969,117
Ensembl chr 1:171,797,516...171,969,099
JBrowse link
G Rassf3 Ras association domain family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 7:63,513,825...63,578,499
Ensembl chr 7:63,513,910...63,578,490
JBrowse link
G Rfx7 regulatory factor X, 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 8:79,159,297...79,279,962
Ensembl chr 8:79,159,370...79,279,962
JBrowse link
G Rnasel ribonuclease L ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
JBrowse link
G Rnf43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr10:74,956,411...75,028,951
Ensembl chr10:74,959,285...75,028,951
JBrowse link
G Rnls renalase, FAD-dependent amine oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:251,828,285...252,101,963
Ensembl chr 1:251,828,290...252,100,759
JBrowse link
G RT1-DOa RT1 class II, locus DOa ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr20:3,889,106...3,892,360
Ensembl chr20:3,889,370...3,892,449
JBrowse link
G Sugct succinylCoA:glutarate-CoA transferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr17:49,991,314...51,030,950 JBrowse link
G Tcf4 transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 1:276,686,911...276,730,517
Ensembl chr 1:276,659,542...276,730,514
Ensembl chr 1:276,659,542...276,730,514
JBrowse link
G Tor1a torsin family 1, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr18:80,860,995...80,907,744
Ensembl chr18:80,862,372...80,865,584
JBrowse link
G Ttc28 tetratricopeptide repeat domain 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr12:51,385,808...51,840,710
Ensembl chr12:51,385,763...51,702,730
JBrowse link
G Uhrf1bp1 UHRF1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892016 NCBI chr20:7,431,235...7,475,515
Ensembl chr20:7,431,355...7,471,900
JBrowse link
Female Infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipor1 adiponectin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr13:51,240,470...51,260,233
Ensembl chr13:51,240,911...51,260,228
JBrowse link
G Adipor2 adiponectin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Afp alpha-fetoprotein ISO RGD PMID:12297623 RGD:1300268 NCBI chr14:19,141,755...19,159,919
Ensembl chr14:19,141,755...19,159,923
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20200203 NCBI chr 1:178,039,002...178,137,469
Ensembl chr 1:178,039,063...178,137,465
JBrowse link
G Bsg basigin (Ok blood group) ISO RGD PMID:9559645 RGD:734663 NCBI chr 7:12,875,536...12,882,753
Ensembl chr 7:12,875,537...12,882,753
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21868453 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Cd9 CD9 molecule ISO RGD PMID:10634790 RGD:734730 NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14684609 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: therapeutic CTD PMID:17519396 NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 ISO
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:23710174, PMID:28520870 RGD:38548924 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fancc FA complementation group C ISO RGD PMID:8704201 RGD:1300317 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:8220432 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion:: (human) RGD PMID:25010410 RGD:11556525 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:19022436 RGD:10445839 NCBI chr 9:17,817,791...17,823,163
Ensembl chr 9:17,817,721...17,823,243
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:22143970 RGD:5685640 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Itga2 integrin subunit alpha 2 ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) RGD PMID:19146775 RGD:2307422 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Lefty2 Left-right determination factor 2 ISO RGD PMID:10902804 RGD:1598793 NCBI chr13:99,173,484...99,178,037
Ensembl chr13:99,173,484...99,178,037
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22265003 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9457942 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
G Lif LIF, interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:23407384 NCBI chr14:84,482,652...84,500,574
Ensembl chr14:84,482,674...84,500,642
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21177758 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16679164 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO RGD PMID:19219058 RGD:9590110 NCBI chr 5:135,446,485...135,472,113
Ensembl chr 5:135,446,962...135,472,116
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23710174 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17590085 NCBI chr 1:131,447,671...131,465,749
Ensembl chr 1:131,448,447...131,460,473
JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17409375 NCBI chr13:53,750,470...53,870,288
Ensembl chr13:53,750,473...53,870,428
JBrowse link
G Pappa1 pappalysin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130263 NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19531635 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:24189967 RGD:11099991 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28560483 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
G Stag3 stromal antigen 3 ISO ClinVar Annotator: match by term: Female infertility ClinVar PMID:25741868 NCBI chr12:19,599,741...19,630,775
Ensembl chr12:19,599,834...19,630,780
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22532853 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tsc2 TSC complex subunit 2 ISO RGD PMID:25189766 RGD:11568667 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
Fibrous Sheath Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Fibrous Sheath Dysplasia ClinVar NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Fibrous Sheath Dysplasia ClinVar NCBI chr 2:120,266,883...120,277,505
Ensembl chr 2:120,266,933...120,276,616
JBrowse link
Frontonasal Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2
ClinVar Annotator: match by OMIM:613451
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11017806, PMID:11106354, PMID:11137991, PMID:16319823, PMID:19692347, PMID:22140057, PMID:22829454, PMID:24668755, PMID:25741868 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
genital herpes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl5 C-C motif chemokine ligand 5 ISO RGD PMID:12502811 RGD:4890015 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:vaginal secretion: RGD PMID:10366565 RGD:8158034 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il3 interleukin 3 ISO RNA: increased expression RGD PMID:21175248 RGD:5686876 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Stat4 signal transducer and activator of transcription 4 treatment
severity
ISO DNA:SNP:intron:rs7572482 (human)
DNA:SNPs, haplotype: :multiple
RGD PMID:22718836, PMID:22718836 RGD:8661697, RGD:8661697 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
Globozoospermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata16 spermatogenesis associated 16 ISO ClinVar Annotator: match by term: Globozoospermia ClinVar PMID:17847006, PMID:24265589, PMID:28492532, PMID:29065458 NCBI chr 2:112,281,326...112,659,911
Ensembl chr 2:112,281,376...112,659,927
JBrowse link
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
ClinVar Annotator: match by OMIM:139210
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8898652, PMID:9582123, PMID:9679244, PMID:9811934, PMID:10479724, PMID:10764709, PMID:10775259, PMID:10790223, PMID:10797267, PMID:11274206, PMID:11782434, PMID:11977156, PMID:12821112, PMID:14715079, PMID:15014009, PMID:15031030, PMID:15235019, PMID:15288293, PMID:16152648, PMID:16436638, PMID:16613914, PMID:17873119, PMID:17994767, PMID:18355998, PMID:18823382, PMID:20101697, PMID:21835029, PMID:22158539, PMID:22243968, PMID:22316667, PMID:22331366, PMID:22581936, PMID:22585601, PMID:22683461, PMID:22703879, PMID:22748914, PMID:22846733, PMID:22875147, PMID:23239472, PMID:23399955, PMID:24033266, PMID:24398790, PMID:24424121, PMID:24465802, PMID:24580733, PMID:24715504, PMID:24841914, PMID:25148578, PMID:25186627, PMID:25318351, PMID:25559809, PMID:25589618, PMID:25637381, PMID:25695693, PMID:25741868, PMID:25980754, PMID:26420300, PMID:26467025, PMID:26619011, PMID:26633542, PMID:26636501, PMID:26681312, PMID:26976419, PMID:27146957, PMID:27153395, PMID:27302097, PMID:27375208, PMID:27443514, PMID:27562837, PMID:27595937, PMID:27613157, PMID:27978560, PMID:28135145, PMID:28196074, PMID:28492532, PMID:28628100, PMID:28726808, PMID:28873162, PMID:28944238, PMID:29684080, PMID:30809044, PMID:30842500, PMID:30968316, PMID:31474762, PMID:31595668, PMID:31654632, PMID:31837202, PMID:32573726, PMID:22158539 RGD:12880042 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
Guttmacher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:176305
OMIM
CTD
ClinVar
PMID:8484413, PMID:11968094, PMID:24239177 Ensembl chr 4:82,228,017...82,229,397 JBrowse link
HIV Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO RGD PMID:29632166 RGD:13782045 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Bace1 beta-secretase 1 ISO RGD PMID:29632166 RGD:13782045 NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
JBrowse link
G Cdk5 cyclin-dependent kinase 5 IDA protein:increased tyrosine phosphorylation:hippocampus RGD PMID:28107387 RGD:13506927 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
JBrowse link
G Mfn1 mitofusin 1 ISO associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human) RGD PMID:26611103 RGD:12910851 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
HIV Seropositivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17209195 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Aph1b aph-1 homolog B, gamma secretase subunit susceptibility ISO DNA:SNP:CDS:p.F217L (rs1047552) (human) RGD PMID:19774691 RGD:13703126 NCBI chr 8:72,508,008...72,598,921
Ensembl chr 8:72,476,425...72,629,265
JBrowse link
G Clec4m C-type lectin domain family 4 member M susceptibility ISO DNA:repeats:exon 4 RGD PMID:25656622, PMID:16453266 RGD:11520989, RGD:39938979 NCBI chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) RGD PMID:27091211 RGD:40818300 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 treatment ISO protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:18724804, PMID:27091211 RGD:40818277, RGD:40818300 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:20224785 RGD:5147578 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
HIV Wasting Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
HIV-Associated Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:12876073 RGD:8694470 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) RGD PMID:20331838, PMID:15353983 RGD:8655915, RGD:8655934 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
human immunodeficiency virus infectious disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A treatment
severity
IEP
ISO
mRNA:altered expression:brain, heart, kidney (rat)
DNA:SNPs: :4036A>G, 1236C>T (human)
RGD PMID:24472536, PMID:23133441, PMID:27334660 RGD:11041168, RGD:39456100, RGD:39456096 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IDA
IEP
mRNA:decreased expression, increased expression:brain, kidney (rat) RGD PMID:16790532, PMID:24472536 RGD:1598562, RGD:11041168 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abce1 ATP binding cassette subfamily E member 1 ISO DNA:mutations:multiple (human) RGD PMID:19657357 RGD:11041871 NCBI chr19:31,867,960...31,892,863
Ensembl chr19:31,867,981...31,892,863
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16903978 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alyref Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:109,768,593...109,774,639
Ensembl chr10:109,770,876...109,774,639
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12646808 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr18:31,112,083...31,138,142
Ensembl chr18:31,112,623...31,136,200
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr  X:156,873,094...156,888,762
Ensembl chr  X:156,873,849...156,888,761
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
JBrowse link
G Arhgdib Rho GDP dissociation inhibitor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:170,913,920...170,932,789
Ensembl chr 4:170,913,923...170,932,618
JBrowse link
G Bag3 BAG cochaperone 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17187345 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 8:6,014,014...6,036,668
Ensembl chr 8:6,013,207...6,034,142
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 8:6,048,590...6,076,828
Ensembl chr 8:6,048,969...6,076,598
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
JBrowse link
G C3 complement C3 ISO RGD PMID:7561187 RGD:11040775 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 susceptibility ISO ClinVar Annotator: match by OMIM:609423
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14571188, PMID:27246604 RGD:14995461 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO ClinVar Annotator: match by OMIM:609423
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14571188, PMID:27246604 RGD:14995461 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 susceptibility ISO RGD PMID:16250882 RGD:5683897 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by
ClinVar PMID:10200305, PMID:12114533, PMID:12610055 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by synonym: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO ClinVar PMID:9252328, PMID:9662369
G Ccr3 C-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10202824 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human)
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of
ClinVar Annotator: match by synonym: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
ClinVar PMID:8639485, PMID:8751444, PMID:8756719, PMID:9055842, PMID:9132277, PMID:9140404, PMID:9207783, PMID:9399903, PMID:9433423, PMID:9466996, PMID:9511755, PMID:9585595, PMID:9600249, PMID:9742978, PMID:9768627, PMID:10520641, PMID:10559343, PMID:10615909, PMID:10803840, PMID:11081537, PMID:11369664, PMID:11403804, PMID:11403814, PMID:11517319, PMID:11781692, PMID:12610055, PMID:12815099, PMID:12874407, PMID:15744032, PMID:15863470, PMID:16216086, PMID:16248677, PMID:16418398, PMID:19017985, PMID:19073967, PMID:28492532, PMID:16379602 RGD:4892094 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:187,669,051...187,693,610
Ensembl chr 2:187,668,796...187,693,610
JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:84,667,578...84,678,730
Ensembl chr 2:84,667,633...84,678,790
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:117,235,023...117,252,265
Ensembl chr 4:117,235,023...117,252,265
JBrowse link
G Cd209 CD209 molecule susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD
OMIM
ClinVar
PMID:15564514, PMID:15838506, PMID:16379498 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7492435 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:plasmacytoid dendritic cell RGD PMID:20559432 RGD:5490533 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21177803 RGD:5490598 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cdc42 cell division cycle 42 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:5,040,314...5,049,166
Ensembl chr20:5,040,337...5,049,166
JBrowse link
G Cops6 COP9 signalosome subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:19,303,387...19,306,226
Ensembl chr12:19,303,387...19,306,226
JBrowse link
G Crp C-reactive protein disease_progression ISO RGD PMID:22448211 RGD:6482303 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:plasma RGD PMID:27246604 RGD:14995461 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 susceptibility ISO ClinVar Annotator: match by OMIM:609423
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9430590 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 9:81,466,430...81,469,299
Ensembl chr 9:81,466,332...81,469,274
JBrowse link
G Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:88,498,271...88,533,730
Ensembl chr10:88,498,238...88,533,829
JBrowse link
G Eif3b eukaryotic translation initiation factor 3, subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:16,285,730...16,310,190
Ensembl chr12:16,285,733...16,310,190
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:56,271,257...56,276,764
Ensembl chr10:56,271,257...56,276,764
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr16:68,954,860...68,968,248
Ensembl chr16:68,954,875...68,968,248
JBrowse link
G Eif6 eukaryotic translation initiation factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:151,356,867...151,363,201
Ensembl chr 3:151,356,868...151,363,115
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:10200468 RGD:11049451 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fcer2 Fc fragment of IgE receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:11500085 NCBI chr12:2,233,772...2,245,324
Ensembl chr12:2,233,778...2,245,324
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:polymorphism:exon:p.F158V(rs396991)(human) RGD PMID:21187939 RGD:5508390 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 4:97,782,512...97,784,814
Ensembl chr 4:97,782,512...97,784,842
JBrowse link
G Gc GC, vitamin D binding protein disease_progression ISO RGD PMID:2883392 RGD:5509934 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Grpel1 GrpE-like 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:79,458,951...79,464,782
Ensembl chr14:79,458,963...79,464,770
JBrowse link
G Gtf3a general transcription factor III A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:9,856,841...9,864,791
Ensembl chr12:9,856,842...9,864,791
JBrowse link
G Hdgf heparin binding growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:187,274,898...187,284,670
Ensembl chr 2:187,275,120...187,284,281
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:17,817,791...17,823,163
Ensembl chr 9:17,817,721...17,823,243
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr12:23,839,390...23,841,051
Ensembl chr12:23,839,399...23,841,049
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Hsph1 heat shock protein family H (Hsp110) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:6,322,685...6,341,898
Ensembl chr12:6,322,668...6,341,902
JBrowse link
G Ifng interferon gamma susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:10202824 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609423
OMIM
CTD
ClinVar
PMID:10202824, PMID:11121048, PMID:14657422, PMID:14657427, PMID:10666520 RGD:7365087 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il15 interleukin 15 ISO protein:decreased expression:plasma RGD PMID:20028198 RGD:4892672 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il18 interleukin 18 treatment ISO protein:increased expression:serum:
associated with hepatitis C; protein:increased expression:serum:
RGD PMID:27927859, PMID:27927859 RGD:14696653, RGD:14696653 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar PMID:11121048, PMID:14657422, PMID:14657427 NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22530560 RGD:6892924 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:189,857,587...189,877,777
Ensembl chr 2:189,857,587...189,877,743
JBrowse link
G Ipo7 importin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:174,655,939...174,696,173
Ensembl chr 1:174,655,939...174,696,173
JBrowse link
G Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 susceptibility ISO DNA:deletion:cds RGD PMID:31863692 RGD:38676444 NCBI chr 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
JBrowse link
G Kmt2e lysine methyltransferase 2E ISO protein:increased expression:peripheral blood, T cell, CD4+ (human) RGD PMID:16046540 RGD:9588555 NCBI chr 4:8,187,751...8,255,578
Ensembl chr 4:8,187,751...8,255,514
JBrowse link
G Kpnb1 karyopherin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:85,096,517...85,124,641
Ensembl chr10:85,093,841...85,124,644
JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase IDA protein:increased tyrosine phosphorylation:T cell RGD PMID:16828835 RGD:1600221 NCBI chr 5:147,750,976...147,779,627
Ensembl chr 5:147,750,973...147,761,983
JBrowse link
G Lepr leptin receptor ISO protein:increased phosphorylation:peripheral blood mononuclear cell RGD PMID:12100031 RGD:21079471 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:16,526,058...16,642,648
Ensembl chr 5:16,526,058...16,642,648
JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:19966940 RGD:6483319 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Maz MYC associated zinc finger protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:198,456,699...198,460,126
Ensembl chr 1:198,456,699...198,460,126
JBrowse link
G Mbl2 mannose binding lectin 2 no_association
severity
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:
CTD PMID:16960176, PMID:26348711, PMID:19796822 RGD:12910931, RGD:12910857 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21576701 RGD:6483531 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mvb12a multivesicular body subunit 12A ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS ClinVar NCBI chr16:19,973,611...19,978,479
Ensembl chr16:19,973,636...19,978,478
JBrowse link
G Myh9 myosin, heavy chain 9 ISO protein:decreased expression:glomerulus RGD PMID:22313957 RGD:6903274 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Nup88 nucleoporin 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:57,581,828...57,606,171
Ensembl chr10:57,581,828...57,606,171
JBrowse link
G Nutf2 nuclear transport factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:37,830,917...37,852,192
Ensembl chr19:37,830,917...37,852,189
JBrowse link
G Odc1 ornithine decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29709520 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Oprm1 opioid receptor, mu 1 IEP mRNA:increased expression:macrophage RGD PMID:17553897 RGD:2316609 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:18096355 RGD:6482728 NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
JBrowse link
G Plaur plasminogen activator, urokinase receptor disease_progression ISO protein:increased expression:plasma RGD PMID:21384094, PMID:20229356 RGD:6484120, RGD:6484128 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Ppib peptidylprolyl isomerase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:71,719,681...71,725,538
Ensembl chr 8:71,719,563...71,725,562
JBrowse link
G Prf1 perforin 1 ISO DNA:SNP: :rs885822 (human) RGD PMID:20523897, PMID:21157294 RGD:6482808, RGD:6482819 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 8:59,532,456...59,539,916
Ensembl chr 8:59,532,389...59,539,920
JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:211,050,344...211,073,706
Ensembl chr 2:211,050,360...211,073,714
JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:76,174,460...76,205,429
Ensembl chr 6:76,174,452...76,205,426
JBrowse link
G Psmb10 proteasome 20S subunit beta 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr19:37,909,543...37,912,027
Ensembl chr19:37,909,546...37,912,027
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:196,043,546...196,046,320
Ensembl chr 2:196,043,618...196,046,311
JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 3:79,876,938...79,882,319
Ensembl chr 3:79,876,938...79,882,319
JBrowse link
G Psmc5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:94,445,877...94,451,811
Ensembl chr10:94,445,877...94,451,811
JBrowse link
G Psmd13 proteasome 26S subunit, non-ATPase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:213,636,159...213,648,499
Ensembl chr 1:213,636,093...213,648,488
JBrowse link
G Psmd3 proteasome 26S subunit, non-ATPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:86,599,007...86,611,180
Ensembl chr10:86,599,220...86,611,188
JBrowse link
G Psmd6 proteasome 26S subunit, non-ATPase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:12,407,557...12,416,153
Ensembl chr15:12,407,524...12,416,105
JBrowse link
G Psmd8 proteasome 26S subunit, non-ATPase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:88,116,811...88,123,643
Ensembl chr 1:88,116,812...88,123,643
JBrowse link
G Psme1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:34,256,071...34,258,947
Ensembl chr15:34,256,071...34,258,947
JBrowse link
G Psme2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr15:34,265,552...34,269,851
Ensembl chr15:34,265,557...34,269,851
JBrowse link
G Psme3 proteasome activator subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:89,236,256...89,244,041
Ensembl chr10:89,236,256...89,244,041
JBrowse link
G Psme4 proteasome activator subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr14:115,166,165...115,269,041
Ensembl chr14:115,166,416...115,269,056
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878215 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP mRNA, protein:increased expression:brain RGD PMID:21846384 RGD:5508195 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rab11b RAB11B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 7:18,598,991...18,612,132
Ensembl chr 7:18,598,880...18,612,147
JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:31,319,556...31,324,105
Ensembl chr12:31,320,624...31,323,810
JBrowse link
G Ranbp1 RAN binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr11:86,890,585...86,898,818
Ensembl chr11:86,890,585...86,898,818
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms (human) RGD PMID:18427198 RGD:5147817 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)
RGD PMID:20345872, PMID:18427198 RGD:5147659, RGD:5147817 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:21427211 RGD:5490157 NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 disease_progression ISO DNA:polymorphism (human)
DNA:polymorphisms: :multiple (human)
RGD PMID:21257739, PMID:20345872 RGD:5147591, RGD:5147659 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Selp selectin P ISO RGD PMID:22156911 RGD:6218986 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Serpina1 serpin family A member 1 susceptibility ISO CTD Direct Evidence: therapeutic
DNA:polymorphism:cds:p.Glu264Val(human)
CTD PMID:17448989, PMID:24122823 RGD:14695057 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Sf3a3 splicing factor 3a, subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:142,702,721...142,722,350
Ensembl chr 5:142,702,685...142,722,341
JBrowse link
G Sfpq splicing factor proline and glutamine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 5:145,079,803...145,088,517
Ensembl chr 5:145,079,803...145,088,498
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16204638 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19720090 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Snrpd3 small nuclear ribonucleoprotein D3 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:14,080,562...14,095,644
Ensembl chr20:14,080,565...14,095,181
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:decreased expression:uterine cervix RGD PMID:16878360 RGD:2298904 NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
JBrowse link
G Srf serum response factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 9:16,737,637...16,747,226
Ensembl chr 9:16,737,642...16,747,225
JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr10:75,334,200...75,341,197
Ensembl chr10:75,335,146...75,341,197
JBrowse link
G Srsf9 serine and arginine rich splicing factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr12:47,039,714...47,046,022
Ensembl chr12:47,039,716...47,046,022
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO mRNA:increased expression:multiple tissues (human) RGD PMID:24367701 RGD:39128218 NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
JBrowse link
G Taf9 TATA-box binding protein associated factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 2:30,664,407...30,668,414
Ensembl chr 2:30,664,639...30,668,414
JBrowse link
G Tlr3 toll-like receptor 3 susceptibility ISO ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:21911422, PMID:22174453, PMID:24033266 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:1768380 RGD:10449449 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8811349 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Trim5 tripartite motif-containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:15249687 NCBI chr 1:169,446,774...169,463,760
Ensembl chr 1:169,446,805...169,534,896
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr20:10,396,652...10,407,564
Ensembl chr20:10,396,621...10,407,554
JBrowse link
G Vdr vitamin D receptor ISO DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15308739 NCBI chr 6:132,702,443...132,726,848
Ensembl chr 6:132,702,448...132,727,046
JBrowse link
hydrocele term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Hydrocele ClinVar PMID:2706105, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9482292, PMID:9600457, PMID:9620796, PMID:9819448, PMID:10204859, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10782932, PMID:10807696, PMID:10982182, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11483639, PMID:11493200, PMID:11668644, PMID:11918723, PMID:12072059, PMID:12081719, PMID:12172392, PMID:12176036, PMID:12239718, PMID:12522556, PMID:12684873, PMID:12786762, PMID:14070830, PMID:14986832, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15359540, PMID:15365987, PMID:15482471, PMID:15666300, PMID:15954104, PMID:15967879, PMID:16088916, PMID:16336662, PMID:16380907, PMID:16773579, PMID:16868655, PMID:17428550, PMID:17553572, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18804553, PMID:18925674, PMID:18985073, PMID:19371219, PMID:19375528, PMID:19925344, PMID:20073550, PMID:20236118, PMID:20301449, PMID:20739944, PMID:20815033, PMID:21056478, PMID:21465647, PMID:21468573, PMID:21910243, PMID:22567152, PMID:22855627, PMID:22975760, PMID:22981120, PMID:23489192, PMID:23757202, PMID:24033266, PMID:24158611, PMID:24346070, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26467025, PMID:26940866, PMID:26969326, PMID:28492532, PMID:29362677, PMID:29501291, PMID:30311386, PMID:30872814 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Testicular hydrocele ClinVar PMID:25741868 NCBI chr14:6,602,004...6,645,257
Ensembl chr14:6,602,004...6,645,257
JBrowse link
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshb follicle stimulating hormone subunit beta ISO ClinVar Annotator: match by term: isolated follicle-stimulating hormone deficiency
ClinVar Annotator: match by term: Follicle-stimulating hormone deficiency, isolated
ClinVar Annotator: match by OMIM:229070
OMIM
ClinVar
PMID:4344039, PMID:8220432, PMID:9271483, PMID:9280841, PMID:9624193, PMID:9806482, PMID:12161499, PMID:20488225, PMID:22791757, PMID:25052309, PMID:25741868, PMID:28392474, PMID:28492532 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131
JBrowse link
hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO
ISS
OMIM:146450 | OMIM:300633 | OMIM:300758 | OMIM:300856
mRNA:decreased expression:mucosa of urethra
MouseDO PMID:15472213, PMID:23386417 RGD:1578685, RGD:11576230 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18001166 NCBI chr13:109,817,892...109,849,632
Ensembl chr13:109,817,728...109,849,632
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Hypospadia ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association ISO RGD PMID:15579657, PMID:21300689 RGD:11576312, RGD:11576313 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:21113153, PMID:27098078 NCBI chr  X:16,441,318...16,526,046
Ensembl chr  X:16,442,899...16,537,888
JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) RGD PMID:17579196, PMID:17579196 RGD:1626506, RGD:1626506 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fgf10 fibroblast growth factor 10 IEP RGD PMID:19464577 RGD:2314151 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Fgf8 fibroblast growth factor 8 IEP RGD PMID:19464577 RGD:2314151 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP mRNA:decreased expression:male genital tubercle (rat) RGD PMID:19464577 RGD:2314151 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Gli3 GLI family zinc finger 3 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:21300689 RGD:11576313 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:21300689 RGD:11576313 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hhip Hedgehog-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31568847 NCBI chr19:31,525,134...31,614,487
Ensembl chr19:31,524,671...31,614,246
JBrowse link
G Hoxa13 homeo box A13 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 Ensembl chr 4:82,228,017...82,229,397 JBrowse link
G Hoxd13 homeo box D13 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity RGD PMID:14764821 RGD:1625114
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14764821 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hypospadia ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 susceptibility ISO protein:missense mutations:cds:p.R227Q, p.F186L (human) RGD PMID:10514539 RGD:1600059 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511
JBrowse link
Hypospadias 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Hypospadias 1, X-linked
ClinVar Annotator: match by OMIM:300633
OMIM
ClinVar
PMID:8097257, PMID:8683794, PMID:25326637, PMID:25741868 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
IGSF1 deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement
ClinVar Annotator: match by term: HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement ClinVar NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement
ClinVar Annotator: match by OMIM:300888
OMIM
ClinVar
PMID:23143598, PMID:25741868, PMID:27310681, PMID:30086211 NCBI chr  X:136,792,637...136,808,107
Ensembl chr  X:136,792,643...136,807,885
JBrowse link
impotence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor treatment IDA associated with Diabetes Mellitus, Experimental RGD PMID:23698784 RGD:7244246 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen treatment IDA RGD PMID:17616753 RGD:8548892 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Akt1 AKT serine/threonine kinase 1 treatment IDA associated with Diabetes Mellitus, Experimental RGD PMID:21235725 RGD:10053666 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Bad BCL2-associated agonist of cell death treatment IDA associated with Diabetes Mellitus, Experimental RGD PMID:21235725 RGD:10053666 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:21235725 RGD:10053666 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IDA
ISO
IEP
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental
CTD PMID:12394778, PMID:12394778, PMID:21235725 RGD:1579980, RGD:10053666 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:12394778, PMID:12394778 RGD:1579980 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Casp3 caspase 3 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:21235725 RGD:10053666 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Ccnd1 cyclin D1 IEP mRNA:decreased expression:penis erectile tissue RGD PMID:17137605 RGD:1625408 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccnd2 cyclin D2 IEP associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:penis RGD PMID:18068478 RGD:2289159 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Cfl1 cofilin 1 treatment IEP protein:increased phosphorylation:corpus cavernosum penis (rat) RGD PMID:25923835, PMID:25444982 RGD:11568706, RGD:11570410 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
JBrowse link
G Cnr1 cannabinoid receptor 1 IMP associated with Diabetes Mellitus, Experimental RGD PMID:17850365 RGD:2314634 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Dynll1 dynein light chain LC8-type 1 treatment IMP RGD PMID:17433082 RGD:13207433 NCBI chr12:47,074,200...47,076,573
Ensembl chr12:47,074,200...47,076,572
JBrowse link
G Edn1 endothelin 1 IEP
ISO
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:12002441, PMID:17420087 RGD:2292142 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ednra endothelin receptor type A IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:18823320, PMID:17420087 RGD:2292142 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Fabp4 fatty acid binding protein 4 IEP associated with hypercholesterolemia;mRNA:increased expression:penis erectile tissue RGD PMID:17137605 RGD:1625408 NCBI chr 2:93,792,666...93,797,267
Ensembl chr 2:93,792,601...93,797,305
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus, Experimental RGD PMID:15758817 RGD:2315866 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP mRNA, protein:decreased expression:corpus cavernosum penis RGD PMID:17146929 RGD:8662385 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Grin3a glutamate ionotropic receptor NMDA type subunit 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19295509 NCBI chr 5:64,928,620...65,073,012
Ensembl chr 5:64,928,620...65,073,012
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 IMP associated with Diabetes Mellitus, Experimental RGD PMID:30226217 RGD:13792691 NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
JBrowse link
G Hdac3 histone deacetylase 3 IEP protein:increased expression:penis: RGD PMID:24636283 RGD:9590194 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Hdac4 histone deacetylase 4 ISO protein:increased expression:penis: RGD PMID:24636283 RGD:9590194 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment IMP
IEP
mRNA, protein:increased expression:penis RGD PMID:24576658, PMID:21595839 RGD:10402763, RGD:10402765 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il6 interleukin 6 treatment IMP
IEP
associated with Diabetes Mellitus, Type 2 RGD PMID:21492407, PMID:24467772 RGD:10402827, RGD:9495931 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kdr kinase insert domain receptor IEP RGD PMID:16422887 RGD:5684417 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Mcam melanoma cell adhesion molecule IEP protein:decreased expression:penis erectile tissue RGD PMID:24023647 RGD:7364777 NCBI chr 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
JBrowse link
G Nos1 nitric oxide synthase 1 treatment IDA
IEP
associated with Diabetes Mellitus, Experimental
associated with Urethral Obstruction;protein:decreased expression:penis erectile tissue
RGD PMID:23698784, PMID:23522997, PMID:23535456 RGD:7244246, RGD:7257657, RGD:7257656 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos2 nitric oxide synthase 2 IEP associated with Diabetes Mellitus, Experimental;protein:increased expression:penis RGD PMID:19554009 RGD:2313212 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP
ISO
associated with Cocaine-Related Disorders;protein:decreased expression:penis
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression, decreased activity
CTD PMID:12002441, PMID:17071732, PMID:17420087, PMID:29260891, PMID:20807325 RGD:2292142, RGD:13504711, RGD:4891999 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G P2ry1 purinergic receptor P2Y1 IDA associated with Diabetes Mellitus, Experimental RGD PMID:19303093 RGD:2315809 NCBI chr 2:151,314,818...151,320,312
Ensembl chr 2:151,314,818...151,320,319
JBrowse link
G P2ry2 purinergic receptor P2Y2 IDA associated with Diabetes Mellitus, Experimental RGD PMID:19303093 RGD:2315809 NCBI chr 1:166,031,228...166,045,423
Ensembl chr 1:166,031,272...166,037,424
JBrowse link
G Pde5a phosphodiesterase 5A IMP associated with Hypercholesterolemia
associated with Diabetes Mellitus, Experimental
RGD PMID:15920460, PMID:15578039, PMID:15667904 RGD:2314519, RGD:2314521, RGD:2314520 NCBI chr 2:226,899,604...227,044,916
Ensembl chr 2:226,900,619...227,041,576
JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 IEP associated with Diabetes Mellitus, Experimental;protein:decreased expression:penis erectile tissue RGD PMID:17355372 RGD:7775062 NCBI chr 1:248,982,039...250,300,952 JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:387166, PMID:4001434, PMID:7878608, PMID:8845563, PMID:15829128 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Shbg sex hormone binding globulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17961146 NCBI chr10:56,219,861...56,237,354
Ensembl chr10:56,219,858...56,223,245
JBrowse link
G Sirt1 sirtuin 1 treatment IEP associated with Diabetes Mellitus, Type 2 RGD PMID:24467772 RGD:9495931 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP associated with Diabetes Mellitus, Experimental;protein:increased expression:penis RGD PMID:18778311, PMID:27051243 RGD:2306738, RGD:14995446 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thbd thrombomodulin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:11596671 RGD:2312459 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor treatment IEP associated with Diabetes Mellitus, Type 2 RGD PMID:24467772 RGD:9495931 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12002441 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vip vasoactive intestinal peptide ISO CTD Direct Evidence: therapeutic CTD PMID:10233493 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO associated with Prostatic Neoplasms;DNA:polymorphism: :p.R280H RGD PMID:18582155 RGD:2302570 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam7 ADAM metallopeptidase domain 7 ISO RGD PMID:26246218 RGD:13831360 NCBI chr15:49,418,946...49,467,174
Ensembl chr15:49,418,946...49,467,174
JBrowse link
G Atm ATM serine/threonine kinase IMP DNA:missense mutation:cds:
DNA:deletion:exon:
RGD PMID:27895165, PMID:28007901 RGD:12879393, RGD:12879399 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Atmm1Kyo ATM serine/threonine kinase; ENU induced mutant 1, Kyo IMP RGD PMID:27895165 RGD:12879393
G Brca2 BRCA2, DNA repair associated IMP RGD PMID:12754522 RGD:727990 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:12754522 RGD:727990
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25975992 NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
JBrowse link
G Esr1 estrogen receptor 1 IMP RGD PMID:24506075 RGD:8552987 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr1em1Soar estrogen receptor 1; ZFN induced mutant 1, Soar IMP RGD PMID:24506075 RGD:8552987
G Fanca FA complementation group A ISO associated with Hypogonadism RGD PMID:10915769 RGD:11344895 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:9363890 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lepr leptin receptor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:15093691, PMID:16284652 RGD:10412018 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Infertility ClinVar PMID:12244321, PMID:25558065 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Infertility ClinVar NCBI chr19:10,575,060...10,581,842
Ensembl chr19:10,575,060...10,581,842
JBrowse link
G Ptger2 prostaglandin E receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359563 NCBI chr15:19,336,029...19,349,759
Ensembl chr15:19,338,175...19,350,210
JBrowse link
G Ttc19 tetratricopeptide repeat domain 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21278747 NCBI chr10:48,599,321...48,627,374
Ensembl chr10:48,599,321...48,627,374
JBrowse link
lepromatous leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 severity ISO protein:decreased expression:serum RGD PMID:6342123 RGD:7411735 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfb complement factor B severity ISO RGD PMID:6342123 RGD:7411735 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds:161G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
leprosy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Batf3 basic leucine zipper ATF-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr13:109,713,376...109,726,438
Ensembl chr13:109,713,489...109,724,863
JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25642632 NCBI chr 1:222,102,436...222,118,485
Ensembl chr 1:222,102,437...222,118,459
JBrowse link
G Il17a interleukin 17A severity ISO mRNA:decreased expression:epidermis (human) RGD PMID:22641009 RGD:8698644 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il23r interleukin 23 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO ClinVar Annotator: match by synonym: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15052269, PMID:17353895 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mrc1 mannose receptor, C type 1 ISO ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy ClinVar PMID:20035344 NCBI chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO DNA:polymorphisms: :multiple (human) RGD PMID:20350193 RGD:5508743 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: LPRS2 ClinVar PMID:10072423, PMID:11558785, PMID:11889248, PMID:12730996, PMID:12891670, PMID:14519684, PMID:15390068, PMID:15970950, PMID:16049031, PMID:16714300, PMID:17766365, PMID:19162522, PMID:19636047, PMID:19801972, PMID:20457763, PMID:20798600, PMID:22118943, PMID:22555654, PMID:23531835, PMID:24033266, PMID:24082139, PMID:24831986, PMID:25591737, PMID:25741868, PMID:25815004, PMID:25907632, PMID:25939424, PMID:26188007, PMID:26467025, PMID:26764160, PMID:26836416, PMID:26855076, PMID:27182553, PMID:27294386, PMID:28492532, PMID:30311386 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Rab32 RAB32, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019778 NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human) RGD PMID:20003324, PMID:19698125 RGD:5147585, RGD:5147788 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Slc11a1 solute carrier family 11 member 1 susceptibility ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotype (human)
CTD PMID:16597321, PMID:15755200, PMID:10608779 RGD:5684957, RGD:5684972 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:snp:cds:p.I602S (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leprosy, protection against
ClinVar Annotator: match by OMIM:613223
CTD
OMIM
ClinVar
PMID:17475868, PMID:17548585, PMID:18461142, PMID:19456232, PMID:23105135, PMID:26729809, PMID:17548585 RGD:7246917 NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphisms:microsatellite,597C>T(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:246300
CTD
OMIM
ClinVar
PMID:11476982, PMID:12646604, PMID:15726416, PMID:19111445, PMID:18177245 RGD:8553055 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP:promoter:−308G>A (human) RGD PMID:20650301 RGD:8694069 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25320285 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
Male Genital Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO RGD PMID:19543245 RGD:2315541 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
male infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:8642790, PMID:12075344 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Actl7a actin-like 7a ISO RGD PMID:26957350 RGD:13831339 NCBI chr 5:73,494,582...73,498,012
Ensembl chr 5:73,496,027...73,497,609
JBrowse link
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 IMP RGD PMID:24983376 RGD:13434925 NCBI chr 1:35,067,268...35,200,530
Ensembl chr 1:35,067,490...35,198,939
JBrowse link
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP RGD PMID:24983376 RGD:13434925
G Agfg1 ArfGAP with FG repeats 1 ISS MouseDO NCBI chr 9:88,607,508...88,663,486
Ensembl chr 9:88,607,508...88,662,224
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21613234 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Akap4 A-kinase anchoring protein 4 ISO RGD PMID:12167408 RGD:632500 NCBI chr  X:16,296,027...16,306,078
Ensembl chr  X:16,296,735...16,306,078