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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Disease Attributes
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Accession:DOID:9000817 term browser browse the term
Definition:Clinical characteristics of disease or illness.
Synonyms:exact_synonym: Disease Attribute
 primary_id: MESH:D020969



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ALFADHEL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 ISO ClinVar Annotator: match by term: Alfadhel syndrome OMIM
ClinVar
PMID:32431071 PMID:33875846 NCBI chr 8:121,866,803...122,007,492
Ensembl chr 8:121,866,805...122,082,948
JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224
JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr10:30,975,639...30,987,955
Ensembl chr10:30,975,702...30,987,956
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr14:36,061,834...36,384,567
Ensembl chr14:36,063,644...36,383,800
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK1 alpha kinase 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,241,220...110,368,001
Ensembl chr 8:110,241,619...110,367,912
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:109,306,793...109,661,970 JBrowse link
G FAM241A family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,468,450...110,504,828
Ensembl chr 8:110,468,757...110,504,912
JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708
JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,200,681...110,206,081
Ensembl chr 8:110,201,161...110,201,979
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200
JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM
ClinVar
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10051017 PMID:10490637 More... NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094
JBrowse link
G TIFA TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,377,817...110,394,190
Ensembl chr 8:110,377,892...110,389,604
JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 8:110,089,920...110,168,086
Ensembl chr 8:110,090,001...110,168,081
JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Ayme-Gripp syndrome OMIM
ClinVar
PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,413...8,485,030
JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356
JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217
JBrowse link
Baraitser-Winter syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar
PMID:1415343 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 More... NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356
JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217
JBrowse link
Baraitser-Winter syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar
PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:17576681 More... NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217
JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G THOC6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations | ClinVar Annotator: match by term: THOC6-related condition OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chr 3:39,161,442...39,164,631
Ensembl chr 3:39,161,434...39,164,707
JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome OMIM
ClinVar
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
JBrowse link
G UBE3B ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr14:41,383,238...41,442,752
Ensembl chr14:41,383,239...41,442,476
JBrowse link
Boomerang dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B ISO ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia OMIM
ClinVar
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,739...39,938,746
JBrowse link
Bovine Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL23A interleukin 23 subunit alpha ISO RGD PMID:16923792 RGD:39457937 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
brachycephaly, trichomegaly, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS23 ribosomal protein S23 ISO ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay OMIM
ClinVar
PMID:25741868 PMID:28257692 NCBI chr 2:90,679,038...90,680,681
Ensembl chr 2:90,679,000...90,680,765
JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar
PMID:28150392 NCBI chr13:27,966,586...28,041,121
Ensembl chr13:27,966,586...28,041,451
JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288
JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,978...146,221,769
JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,771...145,811,678
JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542
JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,266...127,973,191
JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:127,830,032...127,891,294
Ensembl chr 6:127,866,238...127,891,916
JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290
JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139
JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663
JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494
JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,155...146,273,906
JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,894,111...127,952,225
JBrowse link
G TXNL4A thioredoxin like 4A ISO ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome OMIM
ClinVar
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,543...127,991,177
JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129
JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,087,719
JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD96 CD96 molecule ISO ClinVar Annotator: match by term: C syndrome OMIM
ClinVar
PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 NCBI chr13:148,103,424...148,192,272
Ensembl chr13:148,090,630...148,192,232
JBrowse link
C6 Deficiency, Subtotal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C6 complement C6 ISO ClinVar Annotator: match by term: COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL ClinVar PMID:7535801 PMID:8871666 PMID:16199547 PMID:17257682 PMID:24378253 More... NCBI chr16:26,023,646...26,089,518
Ensembl chr16:26,020,628...26,084,652
JBrowse link
Cardioacrofacial Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 OMIM
ClinVar
PMID:25741868 PMID:33058759 NCBI chr 2:65,074,876...65,095,564
Ensembl chr 2:65,074,870...65,095,551
JBrowse link
Cardioacrofacial Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 OMIM
ClinVar
PMID:25741868 PMID:33058759 NCBI chr 6:129,520,397...129,636,207
Ensembl chr 6:129,520,376...129,635,733
JBrowse link
cardiofaciocutaneous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:2500657 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:8234268 PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:16439621 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 More... NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: CFC syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:28492532 NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384
JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 1:164,459,111...164,475,053
Ensembl chr 1:164,467,599...164,475,011
JBrowse link
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 OMIM
ClinVar
PMID:2102266 PMID:2500657 PMID:2851224 PMID:3265306 PMID:4386970 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348
JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 OMIM
ClinVar
PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder OMIM
ClinVar
PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16199547 More... NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
JBrowse link
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 | ClinVar Annotator: match by term: MAP2K2-related condition OMIM
ClinVar
PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 More... NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348
JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome OMIM
ClinVar
PMID:25741868 PMID:32307552 PMID:35451546 NCBI chr 1:130,753,107...130,764,747
Ensembl chr 1:130,753,186...130,764,746
JBrowse link
cerebellofaciodental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome OMIM
ClinVar
PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532
CHOPS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 ALF transcription elongation factor 4 ISO ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28492532 More... NCBI chr 2:135,196,067...135,283,931
Ensembl chr 2:135,200,076...135,283,675
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897
JBrowse link
Chronic Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29808285 NCBI chr 9:93,171,371...93,262,124 JBrowse link
Clark-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP12 thyroid hormone receptor interactor 12 ISO ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition OMIM
ClinVar
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 More... NCBI chr15:130,784,567...130,940,497
Ensembl chr15:130,787,864...130,939,783
JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM1A lysine demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies OMIM
ClinVar
PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More... NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,424...80,971,873
JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502
JBrowse link
G KDM8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 3:19,653,396...19,676,207
Ensembl chr 3:19,653,402...19,676,148
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 PMID:28512736 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome ClinVar PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 More... NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:24933152 More... NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,786,897...21,807,162
JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 PMID:26543203 NCBI chr 3:129,797,438...129,800,568
Ensembl chr 3:129,798,854...129,800,197
JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related condition | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
OMIM
ClinVar
PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 More... NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502
JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,332...6,886,467
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ClinVar PMID:9536098 PMID:15756273 PMID:17576681 PMID:18414213 PMID:18437052 More... NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295
JBrowse link
G SOX4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 7:16,886,834...16,895,488
Ensembl chr 7:16,891,319...16,892,752
JBrowse link
Coffin-Siris syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 OMIM
ClinVar
PMID:25741868 PMID:30661772 PMID:35232796 PMID:35887114 NCBI chr 7:16,886,834...16,895,488
Ensembl chr 7:16,891,319...16,892,752
JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar
PMID:25741868 PMID:30879640 NCBI chr 5:15,992,348...16,005,778
Ensembl chr 5:15,992,260...16,005,778
JBrowse link
Coffin-Siris syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICRA BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar
PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 NCBI chr 6:53,339,166...53,416,834
Ensembl chr 6:53,339,192...53,415,937
JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 6:47,493,834...47,565,999
Ensembl chr 6:47,493,919...47,565,998
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr14:6,386,900...6,404,968
Ensembl chr14:6,386,903...6,407,031
JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr14:49,871,077...49,875,022
Ensembl chr14:49,871,218...49,877,672
JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,687...49,912,617
JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr14:49,845,481...49,864,912
Ensembl chr14:49,845,324...49,863,188
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar
OMIM
PMID:9536098 PMID:11161377 PMID:17576681 PMID:22426308 PMID:22726846 More... NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar
PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295
JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,786,897...21,807,162
JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr 5:76,637,385...76,800,155
Ensembl chr 5:76,636,967...76,797,043
JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,332...6,886,467
JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 NCBI chr 5:21,563,426...21,586,790
Ensembl chr 5:21,563,400...21,586,737
JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 OMIM
ClinVar
PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chr 3:129,797,438...129,800,568
Ensembl chr 3:129,798,854...129,800,197
JBrowse link
cold-induced sweating syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCF1 cardiotrophin like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:5,142,315...5,152,750
Ensembl chr 2:5,143,313...5,152,692
JBrowse link
G CRLF1 cytokine receptor like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome ClinVar PMID:20186812 PMID:25741868 NCBI chr 2:59,222,551...59,233,723
Ensembl chr 2:59,222,367...59,233,720
JBrowse link
G KLHL7 kelch like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695
JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRLF1 cytokine receptor like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr 2:59,222,551...59,233,723
Ensembl chr 2:59,222,367...59,233,720
JBrowse link
G KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695
JBrowse link
cold-induced sweating syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCF1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar
PMID:16782820 PMID:20400119 PMID:25741868 NCBI chr 2:5,142,315...5,152,750
Ensembl chr 2:5,143,313...5,152,692
JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 More... NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695
JBrowse link
Combined Pituitary Hormone Deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 ClinVar PMID:25741868 NCBI chr 9:121,913,050...122,116,031
Ensembl chr 9:121,913,053...122,115,783
JBrowse link
G CHMP2B charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 PMID:26467025 NCBI chr13:168,534,950...168,569,574
Ensembl chr13:168,533,694...168,569,688
JBrowse link
G HESX1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... NCBI chr13:39,046,961...39,088,926
Ensembl chr13:39,046,465...39,088,875
JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:28492532
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 NCBI chr 9:121,850,997...121,898,622
Ensembl chr 9:121,851,270...121,897,211
JBrowse link
G POU1F1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 OMIM
ClinVar
PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 More... NCBI chr13:168,510,671...168,530,394
Ensembl chr13:168,510,774...168,529,345
JBrowse link
CONGENITAL DISORDER OF DEGLYCOSYLATION 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAN2C1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 OMIM
ClinVar
PMID:25741868 PMID:35045343 NCBI chr 7:58,247,264...58,261,204
Ensembl chr 7:58,248,384...58,261,203
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 ClinVar PMID:25741868 PMID:35045343 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522
JBrowse link
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: CDK13-Related Disorder | ClinVar Annotator: match by term: CDK13-related condition | ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder OMIM
ClinVar
PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 More... NCBI chr18:54,310,311...54,430,060
Ensembl chr18:54,310,324...54,430,786
JBrowse link
congenital myopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies OMIM
ClinVar
PMID:25741868 PMID:26733463 PMID:30403323 PMID:31260566 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435
JBrowse link
Critical Illness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 treatment ISO DNA:SNP:exon:3435C>T(human) RGD PMID:29979333 RGD:39456099 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32558485 NCBI chr 1:272,912,239...272,935,316 JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16670151 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22493729 NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,424...80,971,873
JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32558485 PMID:32998156 NCBI chr13:28,975,202...29,005,245
Ensembl chr13:28,977,503...29,005,445
JBrowse link
G REN renin exacerbates ISO protein:increased activity:blood plasma (human) RGD PMID:30653055 RGD:125097479 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
JBrowse link
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SATB1 SATB homeobox 1 ISO ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33513338 PMID:34782754 NCBI chr13:5,315,985...5,410,686
Ensembl chr13:5,314,148...5,417,610
JBrowse link
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JARID2 jumonji and AT-rich interaction domain containing 2 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual disability and dysmorphic facies | ClinVar Annotator: match by term: JARID2-related Neurodevelopmental syndrome | ClinVar Annotator: match by term: JARID2-related condition ClinVar
OMIM
PMID:25741868 PMID:33077894 PMID:35887345 NCBI chr 7:11,358,243...11,601,715
Ensembl chr 7:11,359,230...11,601,401
JBrowse link
developmental delay, dysmorphic facies, and brain anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G U2AF2 U2 small nuclear RNA auxiliary factor 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES ClinVar
OMIM
PMID:28492532 PMID:34112922 PMID:36747105 PMID:37092751 NCBI chr 6:59,773,205...59,789,403
Ensembl chr 6:59,774,078...59,789,395
JBrowse link
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MORC2 MORC family CW-type zinc finger 2 ISO ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy OMIM
ClinVar
PMID:7964809 PMID:12601114 PMID:25741868 PMID:26497905 PMID:26659848 More... NCBI chr14:47,755,264...47,800,432
Ensembl chr14:47,755,267...47,799,628
JBrowse link
G NKAP NFKB activating protein ISO ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy ClinVar PMID:25741868 NCBI chr  X:98,233,504...98,276,839
Ensembl chr  X:98,256,632...98,276,773
JBrowse link
Diets-Jongmans Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM3B lysine demethylase 3B ISO ClinVar Annotator: match by term: Diets-Jongmans syndrome OMIM
ClinVar
PMID:25741868 PMID:29351919 PMID:30929739 NCBI chr 2:140,346,145...140,418,556
Ensembl chr 2:140,346,223...140,418,527
JBrowse link
diphthamide deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 ClinVar
OMIM
PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 6:167,322,197...167,327,760
Ensembl chr 6:167,322,332...167,326,241
JBrowse link
Disease Progression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 2:77,357,161...77,375,349
Ensembl chr 2:77,357,218...77,375,180
JBrowse link
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20627363 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 9:93,171,371...93,262,124 JBrowse link
G ABCC1 ATP binding cassette subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25078270 NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456
JBrowse link
G ABCC11 ATP binding cassette subfamily C member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 6:36,462,190...36,546,989
Ensembl chr 6:36,465,192...36,546,976
JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 3:28,260,935...28,356,706
Ensembl chr 3:28,261,282...28,356,646
JBrowse link
G ABCD4 ATP binding cassette subfamily D member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 7:97,568,193...97,585,693
Ensembl chr 7:97,567,712...97,585,679
JBrowse link
G ABCF1 ATP binding cassette subfamily F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 7:23,126,255...23,144,030
Ensembl chr 7:23,126,283...23,145,006
JBrowse link
G ABCF2 ATP binding cassette subfamily F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr18:5,995,018...6,016,915
Ensembl chr18:6,001,454...6,016,916
JBrowse link
G ABT1 activator of basal transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:21,024,641...21,027,815
Ensembl chr 7:21,024,635...21,027,794
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 9:60,807,405...60,828,379
Ensembl chr 9:60,807,486...60,828,389
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,969...129,709,705
JBrowse link
G AMFR autocrine motility factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9241080 NCBI chr 6:29,366,812...29,417,800
Ensembl chr 6:29,366,936...29,413,697
JBrowse link
G AMOTL1 angiomotin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34480788 NCBI chr 9:26,811,872...26,978,107
Ensembl chr 9:26,864,312...26,973,552
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:24473795 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G ARFGAP2 ADP ribosylation factor GTPase activating protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:15,390,547...15,401,230
Ensembl chr 2:15,390,415...15,401,227
JBrowse link
G ARG2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23424623 NCBI chr 7:91,343,987...91,385,911
Ensembl chr 7:91,343,988...91,385,909
JBrowse link
G ATF2 activating transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23591579 NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,985,126...81,081,014
JBrowse link
G ATP7B ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12216079 PMID:12509969 PMID:19296535 NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 PMID:21750559 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
JBrowse link
G BGN biglycan ISO CTD Direct Evidence: marker/mechanism CTD PMID:35234341 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,003,276...33,020,242
JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:24571310 NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564
JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 4:486,562...507,141
Ensembl chr 4:475,426...507,138
JBrowse link
G C6H19orf33 chromosome 6 C19orf33 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:35142956 NCBI chr 6:47,223,077...47,224,230 JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:10673208 PMID:11283936 PMID:16081686 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29103775 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CCNE1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19385967 NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35072892 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 3:69,527,238...69,540,489
Ensembl chr 3:69,526,534...69,546,548
JBrowse link
G CD274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27692344 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
JBrowse link
G CD44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:25,788,699...25,884,209
Ensembl chr 2:25,788,703...25,884,153
JBrowse link
G CD74 CD74 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:34797429 NCBI chr 2:151,402,210...151,409,924
Ensembl chr 2:151,402,211...151,409,833
JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G CDH2 cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23876460 NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
JBrowse link
G CDKL2 cyclin dependent kinase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25333262 NCBI chr 8:71,231,148...71,260,902
Ensembl chr 8:71,231,152...71,260,815
JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34973135 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
JBrowse link
G CGA glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 1:55,552,675...55,569,057
Ensembl chr 1:55,551,320...55,568,991
JBrowse link
G CHEK2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
JBrowse link
G CLCN3 chloride voltage-gated channel 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr14:20,037,628...20,127,160
Ensembl chr14:20,026,685...20,127,155
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 3:18,433,564...18,450,296
Ensembl chr 3:18,433,836...18,450,290
JBrowse link
G CNPY2 canopy FGF signaling regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:21,707,834...21,711,292
Ensembl chr 5:21,707,834...21,711,292
JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr13:31,262,750...31,295,112 JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:63,970,543...63,977,470
Ensembl chr 5:63,957,064...63,977,424
JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 4:382,887...393,732 JBrowse link
G CRYBG1 crystallin beta-gamma domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr 1:72,552,858...72,763,553
Ensembl chr 1:72,552,922...72,763,546
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738331 PMID:29106415 PMID:34019859 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
JBrowse link
G CTSB cathepsin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877
JBrowse link
G CTSC cathepsin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,036...21,761,516
JBrowse link
G DDB1 damage specific DNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:10,171,554...10,201,602
Ensembl chr 2:10,171,502...10,201,598
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,872...46,316,858
JBrowse link
G E2F2 E2F transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 6:81,377,922...81,398,862
Ensembl chr 6:81,377,924...81,398,867
JBrowse link
G E2F4 E2F transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 6:27,834,356...27,841,419
Ensembl chr 6:27,834,411...27,841,416
JBrowse link
G E2F5 E2F transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 4:51,478,399...51,512,617
Ensembl chr 4:51,478,050...51,512,718
JBrowse link
G E2F7 E2F transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 5:104,126,924...104,163,582
Ensembl chr 5:104,127,731...104,163,212
JBrowse link
G E2F8 E2F transcription factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 2:40,178,182...40,194,932
Ensembl chr 2:40,178,177...40,194,935
JBrowse link
G EDNRA endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194819 NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21794976 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20859196 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
JBrowse link
G EHD1 EH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35616188 NCBI chr 2:7,299,295...7,321,580
Ensembl chr 2:7,298,208...7,321,576
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26735578 NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079
JBrowse link
G EPHA2 EPH receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21479221 NCBI chr 6:75,251,465...75,279,364
Ensembl chr 6:75,251,467...75,279,314
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10897039 PMID:21638049 PMID:21750559 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21638049 NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20104649 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESRRA estrogen related receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chr 2:7,803,504...7,812,868
Ensembl chr 2:7,803,510...7,813,098
JBrowse link
G EXOSC5 exosome component 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:49,373,378...49,381,875
Ensembl chr 6:49,373,379...49,382,034
JBrowse link
G FAM168A family with sequence similarity 168 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 9:7,852,347...8,072,011
Ensembl chr 9:7,852,357...8,071,812
JBrowse link
G FAM83A family with sequence similarity 83 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:34931434 NCBI chr 4:16,169,697...16,186,015
Ensembl chr 4:16,169,708...16,184,941
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11594583 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FAT1 FAT atypical cadherin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:34390292 NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715
JBrowse link
G FGD5 FYVE, RhoGEF and PH domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34427968 NCBI chr13:69,594,225...69,724,051
Ensembl chr13:69,594,223...69,724,056
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12644816 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
JBrowse link
G FKBP2 FKBP prolyl isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:7,868,229...7,871,184
Ensembl chr 2:7,868,230...7,871,097
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146280 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
JBrowse link
G G3BP1 G3BP stress granule assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106762 NCBI chr16:71,236,025...71,276,111
Ensembl chr16:71,236,339...71,276,078
JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29180066 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
JBrowse link
G HDAC3 histone deacetylase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34973135 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399
JBrowse link
G HDAC6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 9:20,181,187...20,224,116
Ensembl chr 9:20,181,235...20,224,824
JBrowse link
G HNRNPL heterogeneous nuclear ribonucleoprotein L ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:47,643,561...47,655,856
Ensembl chr 6:47,643,566...47,657,833
JBrowse link
G HOXD10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34737577 NCBI chr15:81,911,372...81,921,164
Ensembl chr15:81,917,637...81,921,461
JBrowse link
G HOXD11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33614284 NCBI chr15:81,906,654...81,910,765
Ensembl chr15:81,908,460...81,911,282
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12082015 PMID:32621833 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:32,955,061...32,960,110
Ensembl chr17:32,955,101...32,960,104
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738319 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL1RAP interleukin 1 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738319 NCBI chr13:127,933,239...128,071,984
Ensembl chr13:127,933,693...128,043,480
JBrowse link
G ING1 inhibitor of growth family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:77,270,272...77,278,346
Ensembl chr11:77,270,320...77,277,068
JBrowse link
G KCNJ12 potassium inwardly rectifying channel subfamily J member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34755307 NCBI chr12:61,424,459...61,511,373
Ensembl chr12:61,506,577...61,507,870
JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22493729 NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,424...80,971,873
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20124447 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30654191 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
JBrowse link
G LAMC2 laminin subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351
JBrowse link
G LAT2 linker for activation of T cells family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32587277 NCBI chr 3:11,353,213...11,372,100
Ensembl chr 3:11,352,579...11,372,092
JBrowse link
G LOC100514786 ATP-binding cassette sub-family A member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 9:135,104,047...135,452,477
Ensembl chr 9:135,115,078...135,451,812
JBrowse link
G LOC100524016 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:35396937 NCBI chr 3:41,025,892...41,029,302 JBrowse link
G LOC100622859 baculoviral IAP repeat-containing protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854
JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302
G LOC396867 stefin A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461718 PMID:22287159 NCBI chr13:138,216,027...138,226,397
Ensembl chr13:138,181,723...138,236,860
JBrowse link
G LOXL3 lysyl oxidase like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35841383 NCBI chr 3:68,498,114...68,516,829
Ensembl chr 3:68,498,189...68,517,445
JBrowse link
G M6PR mannose-6-phosphate receptor, cation dependent ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:62,537,751...62,557,674
Ensembl chr 5:62,545,638...62,557,674
JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34797429 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
JBrowse link
G MIR100 microRNA mir-100 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 9:49,157,909...49,157,988
Ensembl chr 9:49,157,909...49,157,988
JBrowse link
G MIR145 microRNA mir-145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211
JBrowse link
G MIR186 microRNA mir-186 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr 6:141,943,328...141,943,409
Ensembl chr 6:141,943,328...141,943,409
JBrowse link
G MIR196A-2 microRNA mir-196a-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27816459 NCBI chr 5:19,204,442...19,204,548
Ensembl chr 5:19,204,442...19,204,548
JBrowse link
G MIR206 microRNA mir-206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27538595 NCBI chr 7:45,976,293...45,976,372
Ensembl chr 7:45,976,293...45,976,372
JBrowse link
G MIR21 microRNA mir-21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27816459 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MIR29C microRNA mir-29c ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 9:135,019,638...135,019,725
Ensembl chr 9:135,019,638...135,019,725
JBrowse link
G MIR885 microRNA mir-885 ISO CTD Direct Evidence: therapeutic CTD PMID:27738331 NCBI chr13:66,597,531...66,597,610
Ensembl chr13:66,597,531...66,597,610
JBrowse link
G MIR99A microRNA mir-99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr13:181,302,483...181,302,562
Ensembl chr13:181,302,478...181,302,567
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22321834 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G MRPL13 mitochondrial ribosomal protein L13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 4:18,608,919...18,671,523
Ensembl chr 4:18,608,883...18,671,517
JBrowse link
G MRPS11 mitochondrial ribosomal protein S11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:191,310,547...191,321,951
Ensembl chr 1:191,309,198...191,321,648
JBrowse link
G MRPS18B mitochondrial ribosomal protein S18B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:23,166,314...23,172,718
Ensembl chr 7:23,165,946...23,172,998
JBrowse link
G MYB MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22321834 PMID:28191284 PMID:34510316 PMID:34626302 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078
JBrowse link
G NAXD NAD(P)HX dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:77,210,164...77,230,687
Ensembl chr11:77,210,228...77,230,680
JBrowse link
G NBAS NBAS subunit of NRZ tethering complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 3:121,882,734...122,242,325
Ensembl chr 3:121,882,744...122,242,326
JBrowse link
G NCAPG non-SMC condensin I complex subunit G ISO CTD Direct Evidence: marker/mechanism CTD PMID:34480403 NCBI chr 8:12,759,225...12,807,164
Ensembl chr 8:12,759,641...12,807,163
JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:142,359,000...142,361,126
Ensembl chr 2:142,359,007...142,361,131
JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676
JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32621833 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:32,960,099...32,965,396
Ensembl chr17:32,960,102...32,965,370
JBrowse link
G NT5E 5'-nucleotidase ecto ISO CTD Direct Evidence: therapeutic CTD PMID:34773529 NCBI chr 1:54,400,786...54,450,743
Ensembl chr 1:54,400,810...54,448,742
JBrowse link
G PA2G4 proliferation-associated 2G4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:21,495,997...21,503,297 JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr  X:15,699,924...15,718,908
Ensembl chr  X:15,700,050...15,718,903
JBrowse link
G PHB1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr12:25,596,520...25,609,693
Ensembl chr12:25,596,523...25,609,706
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29106415 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
JBrowse link
G PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32621833 NCBI chr 2:68,715,898...68,729,471
Ensembl chr 2:68,715,880...68,729,870
JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr16:34,604,367...34,741,524
Ensembl chr16:34,600,719...34,744,437
JBrowse link
G POLR3K RNA polymerase III subunit K ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 3:41,571,709...41,575,044
Ensembl chr 3:41,571,475...41,574,987
JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:57,929,520...57,964,948
Ensembl chr 6:57,921,329...57,964,961
JBrowse link
G PRDX3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr14:129,079,050...129,090,790
Ensembl chr14:129,079,051...129,090,830
JBrowse link
G PRDX4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr  X:19,800,153...19,819,575
Ensembl chr  X:19,797,550...19,819,571
JBrowse link
G PREP prolyl endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:71,496,299...72,027,308
Ensembl chr 1:71,496,306...71,636,747
JBrowse link
G PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr14:33,201,359...33,217,641
Ensembl chr14:33,201,669...33,217,539
JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:10,851,779...10,860,315
Ensembl chr 2:10,851,579...10,860,836
JBrowse link
G PSMD14 proteasome 26S subunit, non-ATPase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr15:68,107,379...68,208,884
Ensembl chr15:68,162,532...68,208,883
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729295 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTOV1 PTOV1 extended AT-hook containing adaptor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:54,865,591...54,873,751
Ensembl chr 6:54,865,187...54,873,743
JBrowse link
G PTPA protein phosphatase 2 phosphatase activator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:269,401,776...269,431,465
Ensembl chr 1:269,401,514...269,431,462
JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:167,656,674...167,743,750
Ensembl chr 6:167,657,680...167,743,721
JBrowse link
G PUS1 pseudouridine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,584...23,418,132
JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474
JBrowse link
G RAB27B RAB27B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr 1:104,241,500...104,418,721
Ensembl chr 1:104,241,571...104,417,084
JBrowse link
G RAC2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35331739 NCBI chr 5:10,553,986...10,571,082
Ensembl chr 5:10,553,433...10,573,014
JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:66,090,089...66,096,477
Ensembl chr 2:66,084,668...66,096,329
JBrowse link
G RANBP10 RAN binding protein 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:28,352,001...28,428,383
Ensembl chr 6:28,352,003...28,428,370
JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22614916 NCBI chr 6:79,664,486...79,735,361
Ensembl chr 6:79,664,485...79,735,361
JBrowse link
G RASAL2 RAS protein activator like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34826200 NCBI chr 9:119,941,303...120,329,817
Ensembl chr 9:119,941,862...120,325,316
JBrowse link
G RCHY1 ring finger and CHY zinc finger domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28191284 NCBI chr 8:71,155,388...71,182,020
Ensembl chr 8:71,162,840...71,181,919
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 PMID:34973135 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
JBrowse link
G RIGI RNA sensor RIG-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170495 NCBI chr10:33,891,720...33,976,151
Ensembl chr10:33,891,763...33,933,455
JBrowse link
G RNF168 ring finger protein 168 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34873829 NCBI chr13:133,625,534...133,659,253 JBrowse link
G RPL13 ribosomal protein L13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:410,923...413,396 JBrowse link
G RPL15 ribosomal protein L15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr13:10,716,373...10,719,959
Ensembl chr13:10,716,002...10,719,952
JBrowse link
G RPL18 ribosomal protein L18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:53,974,353...53,978,681
Ensembl chr 6:53,974,309...53,978,544
JBrowse link
G RPS15 ribosomal protein S15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:77,043,329...77,044,749
Ensembl chr 2:77,043,329...77,046,747
JBrowse link
G RPS19 ribosomal protein S19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:50,003,198...50,010,135
Ensembl chr 6:50,000,948...50,010,341
JBrowse link
G RPS21 ribosomal protein S21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:61,763,606...61,764,823
Ensembl chr17:61,763,574...61,764,832
JBrowse link
G RPS26 ribosomal protein S26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:21,431,656...21,433,691
Ensembl chr 5:21,431,937...21,433,697
JBrowse link
G RPS6 ribosomal protein S6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:203,444,360...203,447,643
Ensembl chr 1:203,444,450...203,451,468
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21496433 NCBI chr 9:6,026,151...6,065,211
Ensembl chr 9:6,025,073...6,065,143
JBrowse link
G RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr13:34,067,517...34,075,425
Ensembl chr13:34,067,520...34,075,430
JBrowse link
G RXRB retinoid X receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:25,236,005...25,242,842
Ensembl chr 7:25,236,007...25,242,875
JBrowse link
G SERBP1 SERPINE1 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:145,186,551...145,201,781
Ensembl chr 6:145,186,736...145,203,915
JBrowse link
G SIK2 salt inducible kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34491613 NCBI chr 9:39,368,555...39,483,519
Ensembl chr 9:39,368,599...39,483,515
JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO associated with Colorectal Neoplasms RGD PMID:32359697 RGD:151361139 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:33,072,104...33,094,847
Ensembl chr17:33,080,407...33,094,602
JBrowse link
G SNX27 sorting nexin 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36029209 NCBI chr 4:97,533,643...97,620,816
Ensembl chr 4:97,525,181...97,620,788
JBrowse link
G SNX5 sorting nexin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:26,352,945...26,381,677
Ensembl chr17:26,352,949...26,381,670
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29434186 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:10673208 PMID:11283936 PMID:16081686 PMID:18930813 PMID:20618948 More... NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
JBrowse link
G SOD3 superoxide dismutase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 8:18,796,633...18,802,156
Ensembl chr 8:18,796,637...18,802,152
JBrowse link
G SP1 Sp1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35072892 NCBI chr 5:18,588,763...18,633,177
Ensembl chr 5:18,588,758...18,630,089
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:6,719,484...6,784,724
Ensembl chr 5:6,719,490...6,784,671
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22488367 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 3:60,142,340...60,177,497
Ensembl chr 3:60,142,435...60,177,378
JBrowse link
G SYMPK symplekin scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:52,135,580...52,180,382
Ensembl chr 6:52,138,204...52,199,220
JBrowse link
G TAF15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr12:39,687,171...39,716,761
Ensembl chr12:39,686,884...39,724,769
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21252717 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106762 NCBI chr14:129,441,209...129,467,150
Ensembl chr14:129,441,211...129,467,112
JBrowse link
G TMEM63A transmembrane protein 63A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr10:13,771,795...13,814,442
Ensembl chr10:13,769,605...13,814,020
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11552987 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
JBrowse link
G TOP1 DNA topoisomerase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:30132517 NCBI chr17:43,710,270...43,799,700
Ensembl chr17:43,710,290...43,799,700
JBrowse link
G TOP2A DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22204715 PMID:30132517 NCBI chr12:22,001,300...22,028,452
Ensembl chr12:22,001,282...22,028,450
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 3:38,536,710...38,595,273
Ensembl chr 3:38,536,668...38,603,015
JBrowse link
G TXNIP thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 4:99,348,589...99,351,760
Ensembl chr 4:99,348,490...99,352,755
JBrowse link
G UBXN1 UBX domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:9,072,549...9,075,595
Ensembl chr 2:9,072,968...9,075,594
JBrowse link
G URM1 ubiquitin related modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:268,798,439...268,815,553
Ensembl chr 1:268,798,462...268,815,530
JBrowse link
G VCP valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29693262 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634
JBrowse link
G VEGFB vascular endothelial growth factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146280 NCBI chr 2:7,872,873...7,876,149
Ensembl chr 2:7,872,870...7,876,118
JBrowse link
G WDR46 WD repeat domain 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:29,645,128...29,653,567
Ensembl chr 7:29,645,130...29,653,579
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27777383 NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772
JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30703373 NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603
JBrowse link
G YEATS2 YEATS domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34686948 NCBI chr13:121,637,823...121,746,131
Ensembl chr13:121,637,874...121,746,122
JBrowse link
G YY1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21792014 NCBI chr 7:121,132,168...121,170,699
Ensembl chr 7:121,132,191...121,170,697
JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr10:42,013,114...42,216,139
Ensembl chr10:42,013,084...42,214,205
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
JBrowse link
G ZNF593 zinc finger protein 593 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:83,590,840...83,593,284
Ensembl chr 6:83,590,895...83,593,278
JBrowse link
Disease Susceptibility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20026017 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130021 NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27444301 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130021 NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,771...32,439,184
JBrowse link
G TSPAN12 tetraspanin 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130021 NCBI chr18:26,046,645...26,112,924
Ensembl chr18:26,046,703...26,112,918
JBrowse link
distal 10q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM12 ADAM metallopeptidase domain 12 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:135,302,188...135,682,144
Ensembl chr14:135,302,813...135,682,159
JBrowse link
G ADAM8 ADAM metallopeptidase domain 8 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,221,177...141,233,728
Ensembl chr14:141,221,198...141,232,306
JBrowse link
G ADGRA1 adhesion G protein-coupled receptor A1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,093,230...141,118,145
Ensembl chr14:141,093,225...141,118,147
JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:140,362,123...140,371,951
Ensembl chr14:140,362,127...140,371,907
JBrowse link
G C14H10orf90 chromosome 14 C10orf90 homolog ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:135,718,618...135,954,019
Ensembl chr14:135,719,351...135,953,846
JBrowse link
G CALY calcyon neuron specific vesicular protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,307,092...141,316,460
Ensembl chr14:141,307,684...141,316,292
JBrowse link
G CFAP46 cilia and flagella associated protein 46 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:140,916,089...141,002,805
Ensembl chr14:140,916,092...141,002,708
JBrowse link
G CLRN3 clarin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:137,063,671...137,089,827
Ensembl chr14:137,069,384...137,089,197
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
JBrowse link
G DHX32 DEAH-box helicase 32 (putative) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:135,143,097...135,197,367
Ensembl chr14:135,139,857...135,197,316
JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:136,199,747...136,745,488
Ensembl chr14:136,257,807...136,741,882
JBrowse link
G DPYSL4 dihydropyrimidinase like 4 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:140,497,457...140,511,740
Ensembl chr14:140,497,457...140,511,733
JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:138,819,846...138,935,504
Ensembl chr14:138,819,848...138,935,462
JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,340,320...141,348,870
Ensembl chr14:141,339,364...141,348,994
JBrowse link
G FANK1 fibronectin type III and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:135,197,420...135,309,607
Ensembl chr14:135,197,450...135,302,516
JBrowse link
G FOXI2 forkhead box I2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:136,986,882...136,988,565
Ensembl chr14:136,986,720...136,989,551
JBrowse link
G FUOM fucose mutarotase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,331,801...141,336,628
Ensembl chr14:141,331,810...141,336,633
JBrowse link
G GLRX3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:139,072,554...139,108,063
Ensembl chr14:139,072,575...139,111,249
JBrowse link
G INPP5A inositol polyphosphate-5-phosphatase A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:140,736,729...140,895,943
Ensembl chr14:140,736,734...140,895,937
JBrowse link
G INSYN2A inhibitory synaptic factor 2A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:136,421,481...136,465,414
Ensembl chr14:136,420,546...136,459,137
JBrowse link
G JAKMIP3 Janus kinase and microtubule interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:140,397,146...140,495,317
Ensembl chr14:140,397,188...140,493,774
JBrowse link
G KNDC1 kinase non-catalytic C-lobe domain containing 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,132,374...141,188,343
Ensembl chr14:141,132,350...141,188,342
JBrowse link
G LRRC27 leucine rich repeat containing 27 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:140,599,285...140,627,819
Ensembl chr14:140,599,384...140,627,797
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MTG1 mitochondrial ribosome associated GTPase 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,372,244...141,384,314
Ensembl chr14:141,372,246...141,384,315
JBrowse link
G NKX6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:140,895,622...140,899,114
Ensembl chr14:140,897,874...140,899,155
JBrowse link
G NPS neuropeptide S ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:136,835,630...136,839,511
Ensembl chr14:136,836,352...136,839,510
JBrowse link
G PAOX polyamine oxidase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,360,509...141,369,642
Ensembl chr14:141,360,608...141,369,641
JBrowse link
G PRAP1 proline rich acidic protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,325,965...141,329,955 JBrowse link
G PTPRE protein tyrosine phosphatase receptor type E ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:137,101,449...137,264,245
Ensembl chr14:137,101,555...137,264,238
JBrowse link
G PWWP2B PWWP domain containing 2B ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:140,635,806...140,657,675
Ensembl chr14:140,636,964...140,657,623
JBrowse link
G SPRN shadow of prion protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,384,454...141,389,288
Ensembl chr14:141,386,868...141,387,314
JBrowse link
G STK32C serine/threonine kinase 32C ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:140,512,505...140,596,134
Ensembl chr14:140,512,451...140,591,686
JBrowse link
G SYCE1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,726,708...141,737,830
Ensembl chr14:141,726,208...141,735,919
JBrowse link
G TCERG1L transcription elongation regulator 1 like ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:139,774,084...139,957,273
Ensembl chr14:139,774,199...139,954,817
JBrowse link
G TUBGCP2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,233,854...141,253,377
Ensembl chr14:141,233,856...141,253,359
JBrowse link
G UTF1 undifferentiated embryonic cell transcription factor 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,190,170...141,193,409 JBrowse link
G VENTX VENT homeobox ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,265,966...141,271,379 JBrowse link
G ZNF511 zinc finger protein 511 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr14:141,253,373...141,263,226
Ensembl chr14:141,253,368...141,261,064
JBrowse link
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LYSET lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Dysostosis multiplex, Ain-Naz type OMIM
ClinVar
PMID:33252156 NCBI chr 7:114,574,393...114,575,887
Ensembl chr 7:114,574,139...114,575,883
JBrowse link
extrapulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD209 CD209 molecule susceptibility ISO DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human) RGD PMID:24874302 RGD:39938981 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569
JBrowse link
Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409
JBrowse link
G AFF4 ALF transcription elongation factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr 2:135,196,067...135,283,931
Ensembl chr 2:135,200,076...135,283,675
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19935664 NCBI chr 1:161,320,627...161,556,539
Ensembl chr 1:161,321,273...161,556,537
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30670789 NCBI chr 7:77,719,476...77,780,148
Ensembl chr 7:77,719,582...77,780,146
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614070 NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087
JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: facial dysmorphism ClinVar PMID:26660953 NCBI chr 2:6,440,483...6,445,927
Ensembl chr 2:6,440,390...6,445,927
JBrowse link
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chr  X:120,361,232...120,400,282
Ensembl chr  X:120,361,367...120,399,831
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207787 PMID:9207788 NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641
JBrowse link
G MSL3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:8,519,366...8,535,249
Ensembl chr  X:8,519,370...8,535,249
JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: facial dysmorphism ClinVar NCBI chr 1:271,103,838...271,210,292
Ensembl chr 1:271,104,033...271,210,288
JBrowse link
G TBCE tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171
JBrowse link
Faundes-Banka Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar
PMID:25741868 PMID:33547280 NCBI chr12:52,659,040...52,664,686 JBrowse link
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM
ClinVar
PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 More... NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996
JBrowse link
fibrochondrogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis ClinVar PMID:20513134 PMID:21035103 PMID:23922384 PMID:25240749 PMID:28492532 More... NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
JBrowse link
fibrochondrogenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 OMIM
ClinVar
PMID:9536098 PMID:10486316 PMID:16199547 PMID:17236192 PMID:17576681 More... NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
JBrowse link
fibrochondrogenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Fibrochondrogenesis 2 OMIM
ClinVar
PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:17576681 More... NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CKAP2L cytoskeleton associated protein 2 like ISO ClinVar Annotator: match by term: Filippi syndrome OMIM
ClinVar
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 3:43,736,526...43,772,995
Ensembl chr 3:43,736,744...43,772,974
JBrowse link
G NT5DC4 5'-nucleotidase domain containing 4 ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:43,778,331...43,789,122
Ensembl chr 3:43,779,259...43,789,121
JBrowse link
geleophysic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
geleophysic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1 OMIM
ClinVar
PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 More... NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409
JBrowse link
geleophysic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 2 OMIM
ClinVar
PMID:627879 PMID:948948 PMID:1852206 PMID:2005308 PMID:2254511 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
geleophysic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 3 OMIM
ClinVar
PMID:25741868 PMID:27068007 PMID:28492532 PMID:30887145 PMID:33082559 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
JBrowse link
Genetic Predisposition to Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552517 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474
JBrowse link
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22311042 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18727619 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
JBrowse link
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16404797 NCBI chr 8:121,089,355...121,105,010
Ensembl chr 8:121,020,910...121,108,190
JBrowse link
G ADORA1 adenosine A1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19019667 NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19019667 NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
JBrowse link
G ALAD aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20123609 NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,012,850...254,027,508
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16404797 PMID:17590986 NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938
JBrowse link
G ARHGEF5 Rho guanine nucleotide exchange factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29054765 NCBI chr 9:113,364,849...113,394,446
Ensembl chr 9:113,364,879...113,394,389
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24928783 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,448,430
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35362730 NCBI chr 5:64,071,627...64,105,212
Ensembl chr 5:64,065,992...64,105,173
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
JBrowse link
G CYP2C49 cytochrome P450 2C49 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356304 NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14514962 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO CTD Direct Evidence: marker/mechanism CTD PMID:34182385 NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G FCER1G Fc epsilon receptor Ig ISO CTD Direct Evidence: marker/mechanism CTD PMID:18595682 NCBI chr 4:89,242,467...89,246,344
Ensembl chr 4:89,242,472...89,246,450
JBrowse link
G GATAD2A GATA zinc finger domain containing 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35362730 NCBI chr 2:58,415,749...58,517,308
Ensembl chr 2:58,415,750...58,517,162
JBrowse link
G GPX1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19222424 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G IL4R interleukin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30472377 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19120683 NCBI chr 5:51,695,927...51,704,402
Ensembl chr 5:51,696,188...51,703,813
JBrowse link
G LOC100524016 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:35396937 NCBI chr 3:41,025,892...41,029,302 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22467534
G MECOM MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr13:107,753,207...108,336,136
Ensembl chr13:107,754,482...108,335,702
JBrowse link
G MSH6 mutS homolog 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29616133 NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
JBrowse link
G MT-2B metallothionein-2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27122239 NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033
JBrowse link
G MYO18B myosin XVIIIB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29054765 NCBI chr14:43,467,823...43,687,729
Ensembl chr14:43,468,514...43,687,727
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr13:66,038,669...66,045,478 JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:29275364 NCBI chr14:6,711,789...6,799,318
Ensembl chr14:6,711,442...6,794,667
JBrowse link
G RAD51 RAD51 recombinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613844 NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,665...130,640,136
JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr16:79,186,114...79,220,302
Ensembl chr16:79,186,108...79,220,297
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14514962 NCBI chr 3:71,948,232...72,054,257
Ensembl chr 3:71,948,137...72,050,474
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613844
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ClinVar Annotator: match by term: ZNF148-related condition OMIM
ClinVar
PMID:12840224 PMID:25741868 PMID:27964749 NCBI chr13:134,968,774...135,093,828
Ensembl chr13:134,969,729...135,089,151
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 LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome
OMIM
ClinVar
PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
JBrowse link
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZPR1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies OMIM
ClinVar
PMID:29851065 NCBI chr 9:44,167,422...44,178,137
Ensembl chr 9:44,167,423...44,177,435
JBrowse link
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar
OMIM
PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 More... NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,718
JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar PMID:28492532 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,190
JBrowse link
Hao-Fountain Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474
JBrowse link
G CARHSP1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr 3:33,834,347...33,847,941
Ensembl chr 3:33,838,488...33,847,938
JBrowse link
G METTL22 methyltransferase 22, Kin17 lysine ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr 3:34,035,901...34,055,474
Ensembl chr 3:34,033,261...34,055,464
JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr 3:33,857,059...33,892,472
Ensembl chr 3:33,857,068...33,892,701
JBrowse link
G TMEM114 transmembrane protein 114 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr 3:34,083,997...34,099,535
Ensembl chr 3:34,083,830...34,096,248
JBrowse link
G TMEM186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr 3:33,892,515...33,895,527
Ensembl chr 3:33,892,598...33,897,719
JBrowse link
G USP7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26365382 PMID:28492532 More... NCBI chr 3:33,754,357...33,810,480
Ensembl chr 3:33,775,829...33,810,465
JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSTYK dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 OMIM
ClinVar
PMID:17273976 PMID:23862974 PMID:25741868 PMID:28492532 PMID:28566479 More... NCBI chr 9:65,833,050...65,892,024
Ensembl chr 9:65,833,054...65,891,999
JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
JBrowse link
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies OMIM
ClinVar
PMID:19020503 PMID:25741868 PMID:33517393 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220
JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NALCN sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies ClinVar PMID:25741868 NCBI chr11:69,710,355...70,023,020
Ensembl chr11:69,710,364...70,022,727
JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies ClinVar PMID:24033266 PMID:25741868 PMID:26545877 PMID:26708751 PMID:26708753 More... NCBI chr15:112,463,832...112,717,510
Ensembl chr15:112,491,523...112,714,876
JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NALCN sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | ClinVar Annotator: match by term: NALCN-related condition | ClinVar Annotator: match by term: NALCN-related disorders OMIM
ClinVar
PMID:23749988 PMID:24075186 PMID:25533962 PMID:25741868 PMID:28492532 More... NCBI chr11:69,710,355...70,023,020
Ensembl chr11:69,710,364...70,022,727
JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UNC80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder | ClinVar Annotator: match by term: UNC80-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr15:112,463,832...112,717,510
Ensembl chr15:112,491,523...112,714,876
JBrowse link
infantile hypotonia with psychomotor retardation and characteristic facies-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBCK TBC1 domain containing kinase ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy | ClinVar Annotator: match by term: TBCK-related condition | ClinVar Annotator: match by term: TBCK-related disorders OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 More... NCBI chr 8:115,476,776...115,703,011
Ensembl chr 8:115,476,956...115,699,941
JBrowse link
Intellectual Developmental Disorder with Autism and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDZD8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with autism and dysmorphic facies ClinVar
OMIM
PMID:35227461 NCBI chr14:127,395,842...127,502,421
Ensembl chr14:127,395,823...127,502,400
JBrowse link
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM94 transmembrane protein 94 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac defects and dysmorphic facies | ClinVar Annotator: match by term: TMEM94-related condition OMIM
ClinVar
PMID:25741868 PMID:28097321 PMID:30526868 PMID:32825426 NCBI chr12:5,870,092...5,905,789
Ensembl chr12:5,870,096...5,905,345
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28691247 PMID:29796876 PMID:30057029 More... NCBI chr 3:92,696,402...92,792,623
Ensembl chr 3:92,696,441...92,792,616
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities ClinVar PMID:25741868 PMID:28492532 PMID:28691247 PMID:30057029 PMID:30679813 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis OMIM
ClinVar
PMID:25741868 PMID:27939639 PMID:27939640 PMID:28492532 PMID:32010779 More... NCBI chr13:66,021,047...66,037,446
Ensembl chr13:66,021,325...66,037,445
JBrowse link
G RPL10L ribosomal protein L10 like ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar NCBI chr 1:176,603,177...176,604,116
Ensembl chr 1:176,603,248...176,603,892
JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTUD6B OTU deubiquitinase 6B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition OMIM
ClinVar
PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 More... NCBI chr 4:45,776,776...45,793,270
Ensembl chr 4:45,772,333...45,793,338
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC85C coiled-coil domain containing 85C ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies ClinVar PMID:25741868 NCBI chr 7:120,514,488...120,597,409
Ensembl chr 7:120,514,491...120,597,318
JBrowse link
G CCNK cyclin K ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies OMIM
ClinVar
PMID:25741868 PMID:30122539 NCBI chr 7:120,487,140...120,514,223
Ensembl chr 7:120,487,206...120,514,014
JBrowse link
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition OMIM
ClinVar
PMID:25741868 PMID:34314705 NCBI chr 2:66,267,776...66,288,763
Ensembl chr 2:66,271,496...66,288,264
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with impaired language and dysmorphic facies OMIM
ClinVar
PMID:25741868 PMID:31422817 NCBI chr 9:46,025,616...46,063,836
Ensembl chr 9:46,025,625...46,063,818
JBrowse link
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNOT2 CCR4-NOT transcription complex subunit 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies OMIM
ClinVar
PMID:25741868 PMID:31145527 PMID:31512373 NCBI chr 5:34,470,911...34,548,968
Ensembl chr 5:34,426,394...34,549,310
JBrowse link
intellectual developmental disorder with ocular anomalies and distinctive facial features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTSS2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with ocular anomalies and distinctive facial features | ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder OMIM
ClinVar
PMID:25741868 PMID:36067766 NCBI chr 6:13,660,388...13,682,311
Ensembl chr 6:13,660,392...13,682,316
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations OMIM
ClinVar
PMID:11477608 PMID:25741868 PMID:30481285 NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,131,665...49,151,009
JBrowse link
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNOT3 CCR4-NOT transcription complex subunit 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29758562 PMID:31201375 PMID:32720325 NCBI chr 6:55,975,628...55,993,140
Ensembl chr 6:55,973,612...55,991,287
JBrowse link
G LENG1 leukocyte receptor cluster member 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:29758562 NCBI chr 6:55,970,585...55,976,740
Ensembl chr 6:55,970,668...55,976,735
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11B BCL11 transcription factor B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities OMIM
ClinVar
PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 PMID:32659295 More... NCBI chr 7:120,205,008...120,295,737
Ensembl chr 7:120,205,008...120,295,936
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29758562 PMID:30595499 PMID:31833172 More... NCBI chr  X:43,100,375...43,116,377
Ensembl chr  X:43,100,032...43,116,227
JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100525350 polyprenol reductase ISO ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 More... NCBI chr 8:42,024,352...42,049,209 JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBE3B ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type OMIM
ClinVar
PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 More... NCBI chr14:41,383,238...41,442,752
Ensembl chr14:41,383,239...41,442,476
JBrowse link
KBG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 6:663,201...708,800
Ensembl chr 6:663,123...709,186
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies OMIM
ClinVar
PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 More... NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...612,868
JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,276
JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486
JBrowse link
G C6H16orf95 chromosome 6 C16orf95 homolog ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,996,457...2,013,709 JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,495,615...1,539,390
Ensembl chr 6:1,506,042...1,538,777
JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 6:779,164...854,449
Ensembl chr 6:779,366...853,822
JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 6:636,350...652,260
Ensembl chr 6:636,377...652,165
JBrowse link
G CDK10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:332,239...339,130
Ensembl chr 6:332,242...339,142
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 6:893,377...897,706
Ensembl chr 6:893,381...897,934
JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:351,878...358,655
Ensembl chr 6:351,866...358,653
JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:393,756...410,781 JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:964,551...976,881
Ensembl chr 6:964,566...976,832
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:361,187...385,757
Ensembl chr 6:361,197...376,616
JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152
JBrowse link
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,949,254...1,995,459
Ensembl chr 6:1,949,276...1,995,462
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 6:869,284...890,137
Ensembl chr 6:869,244...890,134
JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,023,330...1,025,173
Ensembl chr 6:1,022,937...1,025,161
JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,677,132...1,767,010 JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673
JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,627,054...1,672,328
Ensembl chr 6:1,617,653...1,677,127
JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,919,879...1,941,069
Ensembl chr 6:1,915,387...1,941,069
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303
JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 6:854,605...861,969
Ensembl chr 6:858,888...861,604
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:976,957...982,997
Ensembl chr 6:976,980...982,995
JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:410,923...413,396 JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506
JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:988,975...996,268
Ensembl chr 6:988,990...996,247
JBrowse link
G SPATA2L spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:328,534...331,334
Ensembl chr 6:326,746...331,740
JBrowse link
G SPATA33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:341,276...351,987 JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212
JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835 NCBI chr 6:865,498...869,253
Ensembl chr 6:863,805...869,226
JBrowse link
G VPS9D1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:313,713...324,026
Ensembl chr 6:313,783...324,022
JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,030,416...1,081,541
Ensembl chr 6:1,030,418...1,081,538
JBrowse link
G ZCCHC14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,849,974...1,917,601
Ensembl chr 6:1,850,051...1,918,704
JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,091,158...1,153,972
Ensembl chr 6:1,091,259...1,107,096
JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 6:298,034...316,451
Ensembl chr 6:298,039...313,403
JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257
JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 ISO ClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar
PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 NCBI chr13:201,231,803...201,525,943
Ensembl chr13:201,243,609...201,525,820
JBrowse link
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GAT3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20335603 PMID:21763480 More... NCBI chr 2:9,119,621...9,125,081
Ensembl chr 2:9,119,656...9,125,061
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 More... NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:74,850,931...74,891,527
Ensembl chr14:74,850,931...74,891,520
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
JBrowse link
G CSKMT citrate synthase lysine methyltransferase ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,082,704...9,084,158
Ensembl chr 2:9,079,511...9,084,164
JBrowse link
G GANAB glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,100,672...9,118,396
Ensembl chr 2:9,100,702...9,118,390
JBrowse link
G INTS5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,095,646...9,100,487
Ensembl chr 2:9,095,633...9,100,307
JBrowse link
G LRRN4CL LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,065,340...9,067,639 JBrowse link
G ROM1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:20335603 PMID:28492532 NCBI chr 2:9,125,377...9,127,615
Ensembl chr 2:9,125,381...9,127,615
JBrowse link
G UBXN1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,072,549...9,075,595
Ensembl chr 2:9,072,968...9,075,594
JBrowse link
G UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr 2:9,077,055...9,078,649
Ensembl chr 2:9,074,784...9,078,541
JBrowse link
Latent Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G GPA33 glycoprotein A33 ISO mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 4:83,904,651...83,943,238
Ensembl chr 4:83,904,915...83,941,563
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human RGD PMID:29602771 RGD:41404732 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
JBrowse link
Li-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Li-Campeau syndrome ClinVar PMID:33340455 NCBI chr 7:114,586,306...114,590,804
Ensembl chr 7:114,585,474...114,590,787
JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Li-Campeau syndrome OMIM
ClinVar
PMID:25741868 PMID:33340455 NCBI chr 7:114,590,920...114,609,867
Ensembl chr 7:114,590,945...114,609,858
JBrowse link
Li-Fraumeni syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL OMIM
ClinVar
PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
JBrowse link
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies OMIM
ClinVar
PMID:9689990 PMID:21552264 PMID:22587682 PMID:25741868 PMID:28492532 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240
JBrowse link
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERC1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chr 5:68,223,722...68,608,705
Ensembl chr 5:68,223,729...68,608,703
JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation OMIM
ClinVar
PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 More... NCBI chr 1:108,206,172...108,404,149
Ensembl chr 1:108,205,580...108,403,862
JBrowse link
macrocephaly-autism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLLN killin, p53 regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Macrocephaly-autism syndrome ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 More... NCBI chr14:99,923,996...99,928,887 JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome OMIM
ClinVar
PMID:1336932 PMID:2338203 PMID:9140396 PMID:9241266 PMID:9259288 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMFR autocrine motility factor receptor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:29,366,812...29,417,800
Ensembl chr 6:29,366,936...29,413,697
JBrowse link
G ANO7 anoctamin 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr15:139,951,191...139,956,575 JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502
JBrowse link
G ASXL3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:117,334,177...117,518,589
Ensembl chr 6:117,334,259...117,518,026
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,508...104,384,547
JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:18,506,082...18,519,060
Ensembl chr 3:18,506,052...18,519,056
JBrowse link
G B3GLCT beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:7,792,160...7,907,052
Ensembl chr11:7,792,368...7,907,049
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973
JBrowse link
G BCL11A BCL11 transcription factor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382
JBrowse link
G BEGAIN brain enriched guanylate kinase associated ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:121,389,554...121,434,420
Ensembl chr 7:121,389,563...121,434,426
JBrowse link
G CDH5 cadherin 5 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:27,108,560...27,142,145
Ensembl chr 6:27,108,597...27,142,177
JBrowse link
G CDHR2 cadherin related family member 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:81,319,179...81,361,598
Ensembl chr 2:81,318,407...81,361,606
JBrowse link
G CDK13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28807008 More... NCBI chr18:54,310,311...54,430,060
Ensembl chr18:54,310,324...54,430,786
JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:98,250,773...98,260,504
Ensembl chr 4:98,250,964...98,260,427
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30397230 NCBI chr12:53,135,767...53,163,244
Ensembl chr12:53,139,366...53,163,243
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:77,719,476...77,780,148
Ensembl chr 7:77,719,582...77,780,146
JBrowse link
G CIC capicua transcriptional repressor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28288114 NCBI chr 6:49,638,986...49,664,146
Ensembl chr 6:49,638,990...49,662,947
JBrowse link
G CIT citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:33,009,828...33,195,985
Ensembl chr14:33,009,877...33,196,286
JBrowse link
G CLDN11 claudin 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:109,075,672...109,089,097
Ensembl chr13:109,075,452...109,090,111
JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:20,758,081...20,765,655
Ensembl chr12:20,758,083...20,765,553
JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224
JBrowse link
G DBN1 drebrin 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,480,603...80,495,797
Ensembl chr 2:80,479,460...80,495,796
JBrowse link
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr  X:36,988,031...37,005,496
Ensembl chr  X:36,988,031...37,018,202
JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,440,774...80,445,484
Ensembl chr 2:80,439,247...80,445,482
JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,433,065...80,445,484
Ensembl chr 2:80,433,190...80,438,867
JBrowse link
G DKK3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:47,385,244...47,444,664
Ensembl chr 2:47,385,192...47,444,660
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:29460436 PMID:33597769 NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,143
JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:44,785,142...45,153,256
Ensembl chr 9:44,785,701...45,147,140
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:32277047 PMID:36250449
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:81,277,086...81,281,668
Ensembl chr 2:81,277,952...81,281,453
JBrowse link
G EMILIN3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:44,006,838...44,013,501
Ensembl chr17:44,006,840...44,013,508
JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828
JBrowse link
G FAF2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:81,401,852...81,454,272
Ensembl chr 2:81,401,859...81,454,262
JBrowse link
G FAM193B family with sequence similarity 193 member B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,396,371...80,430,074
Ensembl chr 2:80,396,371...80,430,071
JBrowse link
G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517
JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,881
JBrowse link
G FBXO11 F-box protein 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30057029 NCBI chr 3:92,696,402...92,792,623
Ensembl chr 3:92,696,441...92,792,616
JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796
JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:59,256,546...59,267,171
Ensembl chr 2:59,253,342...59,267,165
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,590...61,723,448
JBrowse link
G GLT8D2 glycosyltransferase 8 domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:80,409,915...80,473,964
Ensembl chr 5:80,410,372...80,473,274
JBrowse link
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:81,307,732...81,319,183
Ensembl chr 2:81,315,368...81,318,382
JBrowse link
G GRK6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,496,105...80,527,208
Ensembl chr 2:80,508,979...80,527,210
JBrowse link
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr15:139,957,703...140,025,336
Ensembl chr15:139,957,715...140,022,302
JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:81,042,401...81,060,832
Ensembl chr 2:81,042,755...81,060,826
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:51,032,163...51,152,566
Ensembl chr17:51,039,987...51,142,644
JBrowse link
G LMAN2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,595,064...80,636,168
Ensembl chr 2:80,595,334...80,609,594
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:36,061,834...36,384,567
Ensembl chr14:36,063,644...36,383,800
JBrowse link
G MTREX Mtr4 exosome RNA helicase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:34,478,227...34,605,508
Ensembl chr16:34,478,272...34,606,096
JBrowse link
G MXD3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,636,778...80,641,346
Ensembl chr 2:80,637,323...80,641,950
JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:9,315,263...9,333,878
Ensembl chr 9:9,315,334...9,334,918
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999
JBrowse link
G NFIB nuclear factor I B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:30388402 NCBI chr 1:208,182,397...208,427,504
Ensembl chr 1:208,175,194...208,421,602
JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:65,954,808...66,056,591
Ensembl chr 2:65,954,811...66,056,567
JBrowse link
G NKAP NFKB activating protein ISO DNA:missense mutations:exon 8-9:multiple (human) RGD PMID:31587868 RGD:155641252 NCBI chr  X:98,233,504...98,276,839
Ensembl chr  X:98,256,632...98,276,773
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:32277047 NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059
JBrowse link
G NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 4:80,854,850...80,932,412
Ensembl chr 4:80,857,344...80,877,566
JBrowse link
G NUP205 nucleoporin 205 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:13,674,301...13,777,773
Ensembl chr18:13,674,312...13,811,976
JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:7981714 PMID:8268925 PMID:8533759 PMID:8830172 PMID:8981952 More... NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,385,435...81,463,451
JBrowse link
G PDLIM7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,453,013...80,472,660
Ensembl chr 2:80,452,706...80,472,658
JBrowse link
G PFN3 profilin 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,545,495...80,546,524
Ensembl chr 2:80,546,048...80,546,497
JBrowse link
G PICALM phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:19,835,934...19,947,239
Ensembl chr 9:19,835,938...20,123,566
JBrowse link
G PKD1L2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:7,065,143...7,166,620
Ensembl chr 6:7,066,912...7,166,458
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
JBrowse link
G PRELID1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,641,844...80,646,390
Ensembl chr 2:80,641,845...80,653,670
JBrowse link
G PRR7 proline rich 7, synaptic ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,496,105...80,508,825
Ensembl chr 2:80,496,106...80,505,430
JBrowse link
G RAB24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,646,426...80,651,498 JBrowse link
G RALGAPB Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:41,507,756...41,606,903
Ensembl chr17:41,507,806...41,606,898
JBrowse link
G RANBP10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:28,352,001...28,428,383
Ensembl chr 6:28,352,003...28,428,370
JBrowse link
G RGS14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,574,411...80,589,998
Ensembl chr 2:80,574,415...80,590,003
JBrowse link
G RNF44 ring finger protein 44 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:81,372,427...81,390,232
Ensembl chr 2:81,378,725...81,390,230
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
JBrowse link
G SIDT1 SID1 transmembrane family member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:146,300,172...146,396,552
Ensembl chr13:146,300,175...146,396,542
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:67,156,786...67,199,092
Ensembl chr13:67,179,765...67,197,107
JBrowse link
G SNCB synuclein beta ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:81,287,764...81,302,859
Ensembl chr 2:81,287,759...81,302,861
JBrowse link
G SPAG9 sperm associated antigen 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:27,225,377...27,370,337
Ensembl chr12:27,202,088...27,370,405
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:29419869 PMID:30334930 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:29,723,745...29,752,351
Ensembl chr 7:29,723,588...29,753,933
JBrowse link
G TAF1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:26637982 NCBI chr  X:57,382,211...57,466,700
Ensembl chr  X:57,382,354...57,466,697
JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:64,188,184...64,197,033
Ensembl chr 5:64,188,179...64,197,264
JBrowse link
G TBR1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr15:68,208,884...68,222,993
Ensembl chr15:68,213,562...68,222,990
JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,364,532...80,368,434
Ensembl chr 2:80,364,769...80,368,589
JBrowse link
G TPCN2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:4,069,267...4,105,065
Ensembl chr 2:4,069,280...4,105,042
JBrowse link
G TSPAN17 tetraspanin 17 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:81,256,989...81,276,638
Ensembl chr 2:81,260,281...81,276,636
JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,895,631...81,040,712
Ensembl chr 2:80,929,267...81,036,448
JBrowse link
G UNC5A unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:81,061,096...81,126,191
Ensembl chr 2:81,060,803...81,126,196
JBrowse link
G WSCD2 WSC domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:42,482,923...42,584,388
Ensembl chr14:42,489,398...42,584,135
JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:16,913,022...16,921,722
Ensembl chr10:16,913,025...16,920,586
JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:144,855,821...145,668,320
Ensembl chr13:145,591,894...145,644,880
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:62,659,779...62,715,221
Ensembl chr17:62,659,786...62,709,235
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
JBrowse link
G ZNF346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:80,871,576...80,895,592
Ensembl chr 2:80,871,595...80,895,585
JBrowse link
Martsolf Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 2 OMIM
ClinVar
PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 More... NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
JBrowse link
Meningeal Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4R interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10318940 RGD:10449456 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Cardiac anomalies - developmental delay - facial dysmorphism syndrome | ClinVar Annotator: match by term: Impaired intellectual development and distinctive facial features with cardiac defects | ClinVar Annotator: match by term: MED13L-Related Disorder | ClinVar Annotator: match by term: MED13L-related condition OMIM
ClinVar
PMID:9536098 PMID:14638541 PMID:17576681 PMID:22542183 PMID:24781760 More... NCBI chr14:36,061,834...36,384,567
Ensembl chr14:36,063,644...36,383,800
JBrowse link
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition OMIM
ClinVar
PMID:10521292 PMID:11857736 PMID:16140555 PMID:20376792 PMID:23290074 More... NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687
JBrowse link
G SUPT3H SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly ClinVar PMID:23290074 NCBI chr 7:39,763,303...40,161,123
Ensembl chr 7:39,751,927...40,161,103
JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar
PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chr14:104,125,839...104,177,381
Ensembl chr14:104,125,898...104,177,379
JBrowse link
Mosaic Variegated Aneuploidy Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAD1L1 mitotic arrest deficient 1 like 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM
ClinVar
PMID:36322655 NCBI chr 3:1,236,066...1,559,346
Ensembl chr 3:1,236,076...1,559,041
JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr17:52,316,388...52,350,732
Ensembl chr17:52,317,913...52,332,079
JBrowse link
G ARHGAP15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:8,192,599...8,811,794
Ensembl chr15:8,192,607...8,811,795
JBrowse link
G GTDC1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr15:7,685,969...8,162,784
Ensembl chr15:7,757,935...8,051,594
JBrowse link
G HNMT histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199
JBrowse link
G KYNU kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:8,847,335...8,982,951
Ensembl chr15:8,850,544...8,982,891
JBrowse link
G LRP1B LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:9,612,805...11,499,969
Ensembl chr15:9,613,238...11,499,530
JBrowse link
G NXPH2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:12,953,062...13,073,208
Ensembl chr15:12,953,195...13,073,202
JBrowse link
G SPOPL speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:13,134,221...13,207,737
Ensembl chr15:13,134,225...13,207,731
JBrowse link
G THSD7B thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:14,088,995...15,610,635
Ensembl chr15:14,088,999...15,046,042
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition OMIM
ClinVar
PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
JBrowse link
multidrug-resistant tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP3 forkhead box P3 ISO mRNA:increased expression:peripheral blood: RGD PMID:25483347 RGD:38456003 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
JBrowse link
Myoectodermal Gonadal Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy OMIM
ClinVar
PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 More... NCBI chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921
JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy ClinVar PMID:25741868 NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
JBrowse link
Nabais Sa-de Vries Syndrome, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPOP speckle type BTB/POZ protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies OMIM
ClinVar
PMID:25741868 PMID:32109420 NCBI chr12:25,792,621...25,860,630
Ensembl chr12:25,792,630...25,860,595
JBrowse link
Nabais Sa-de Vries Syndrome, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPOP speckle type BTB/POZ protein ISO ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies OMIM
ClinVar
PMID:25741868 PMID:32109420 NCBI chr12:25,792,621...25,860,630
Ensembl chr12:25,792,630...25,860,595
JBrowse link
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INTS1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chr 3:979,403...1,005,584
Ensembl chr 3:979,405...1,005,527
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies OMIM
ClinVar
PMID:11486037 PMID:25741868 PMID:33537682 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301
JBrowse link
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: KDM6B-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31124279 PMID:37196654 NCBI chr12:53,087,072...53,108,949
Ensembl chr12:53,098,964...53,108,214
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXOC2 exocyst complex component 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM
ClinVar
PMID:32639540 NCBI chr 7:195,079...341,470
Ensembl chr 7:195,083...341,442
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZMIZ1 zinc finger MIZ-type containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | ClinVar Annotator: match by term: ZMIZ1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29758562 PMID:30639322 NCBI chr14:81,409,067...81,647,808
Ensembl chr14:81,455,127...81,647,939
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAE1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia OMIM
ClinVar
PMID:36608681 NCBI chr 6:27,511,541...27,540,142
Ensembl chr 6:27,450,632...27,540,118
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPR heterogeneous nuclear ribonucleoprotein R ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities OMIM
ClinVar
PMID:9421497 PMID:16757948 PMID:25741868 PMID:26795593 PMID:31079900 NCBI chr 6:81,203,067...81,239,823
Ensembl chr 6:81,196,062...81,239,406
JBrowse link
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum OMIM
ClinVar
PMID:25741868 PMID:31924697 NCBI chr 7:77,780,968...77,814,519
Ensembl chr 7:77,781,316...77,814,505
JBrowse link
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMC10 ER membrane protein complex subunit 10 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures OMIM
ClinVar
PMID:25741868 PMID:32869858 PMID:33531666 PMID:35684946 NCBI chr 6:55,316,384...55,322,251
Ensembl chr 6:55,316,468...55,322,249
JBrowse link
G GARIN5A golgi associated RAB2 interactor 5A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures ClinVar PMID:25741868 PMID:35684946 NCBI chr 6:55,310,616...55,316,269
Ensembl chr 6:55,310,729...55,316,370
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MADD MAP kinase activating death domain ISO ClinVar Annotator: match by term: MADD-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia OMIM
ClinVar
PMID:25741868 PMID:28940097 PMID:29302074 PMID:32761064 NCBI chr 2:15,270,783...15,315,459
Ensembl chr 2:15,270,789...15,315,477
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities OMIM
ClinVar
PMID:25741868 PMID:32822602 NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466
JBrowse link
G RNASEH2C ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ClinVar PMID:25741868 PMID:32822602 NCBI chr 2:6,563,093...6,564,281
Ensembl chr 2:6,563,091...6,564,274
JBrowse link
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:36044892 NCBI chr 6:44,979,195...44,981,051
Ensembl chr 6:44,979,190...44,981,049
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCEAL1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked OMIM
ClinVar
PMID:25741868 NCBI chr  X:84,518,999...84,521,020
Ensembl chr  X:84,519,005...84,521,009
JBrowse link
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRA10AC1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities OMIM
ClinVar
PMID:25741868 PMID:34694367 PMID:35821753 PMID:35871492 NCBI chr14:105,125,513...105,169,866
Ensembl chr14:105,122,910...105,167,660
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNB2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies OMIM
ClinVar
PMID:25741868 PMID:31698099 PMID:33971351 PMID:34183358 NCBI chr 3:8,579,037...8,585,268
Ensembl chr 3:8,579,122...8,584,266
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPM3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures ClinVar
OMIM
PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32439617 More... NCBI chr 1:223,833,263...224,682,424
Ensembl chr 1:223,836,213...224,680,389
JBrowse link
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PGM2L1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities OMIM
ClinVar
PMID:28492532 PMID:33979636 NCBI chr 9:8,686,976...8,761,721
Ensembl chr 9:8,689,481...8,761,709
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies OMIM
ClinVar
PMID:35977029 NCBI chr 4:95,471,122...95,519,800
Ensembl chr 4:95,471,126...95,520,425
JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOHH deoxyhypusine hydroxylase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM
ClinVar
PMID:25741868 PMID:35858628 NCBI chr 2:75,164,536...75,173,443
Ensembl chr 2:75,164,787...75,173,439
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies OMIM
ClinVar
PMID:26633546 PMID:34313816 NCBI chr 3:17,406,263...17,417,115
Ensembl chr 3:17,406,273...17,416,795
JBrowse link
neurodevelopmental disorder with speech impairment and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SETD1A SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies | ClinVar Annotator: match by term: SETD1A-related condition OMIM
ClinVar
PMID:24853937 PMID:25420024 PMID:25741868 PMID:26974950 PMID:32346159 More... NCBI chr 3:17,463,768...17,490,397
Ensembl chr 3:17,463,775...17,488,594
JBrowse link
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAC3 Rac family small GTPase 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies OMIM
ClinVar
PMID:25741868 PMID:29276006 PMID:30293988 PMID:35851598 PMID:38214746 NCBI chr12:981,072...984,222
Ensembl chr12:981,074...984,227
JBrowse link
Nicolaides Baraitser Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502
JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855
JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 PMID:22366787 More... NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
JBrowse link
ocular tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO protein:increased expression:aqueous humor RGD PMID:22583692 RGD:7364832 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
Oculoskeletodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31034465 NCBI chr 2:41,829,969...42,024,062
Ensembl chr 2:41,829,916...42,024,362
JBrowse link
oligomeganephronia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2 BCL2 apoptosis regulator ISO MouseDO NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
JBrowse link
omodysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC6 glypican 6 ISO ClinVar Annotator: match by term: Autosomal recessive omodysplasia OMIM
ClinVar
PMID:19481194 PMID:25741868 PMID:28492532 NCBI chr11:62,436,143...63,560,908
Ensembl chr11:62,438,453...63,560,897
JBrowse link
omodysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant omodysplasia OMIM
ClinVar
PMID:25741868 PMID:25759469 PMID:30455931 NCBI chr12:18,740,417...18,742,301
Ensembl chr12:18,740,653...18,742,420
JBrowse link
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBGCP2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar
PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr14:141,233,854...141,253,377
Ensembl chr14:141,233,856...141,253,359
JBrowse link
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTF1A pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS OMIM
ClinVar
PMID:10507728 PMID:15543146 PMID:18591390 PMID:20065546 PMID:21749365 More... NCBI chr10:51,817,697...51,820,147
Ensembl chr10:51,817,924...51,819,960
JBrowse link
Pierpont syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBL1XR1 TBL1X/Y related 1 ISO ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome OMIM
ClinVar
PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 More... NCBI chr13:115,312,444...115,488,228
Ensembl chr13:115,312,452...115,487,284
JBrowse link
pleural tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO protein:increased expression:serum:
protein:increased activity:serum:
protein:increased activity:pleural fluid:
RGD PMID:1689629 PMID:1818842 PMID:18357489 PMID:21860532 RGD:152995280 RGD:152995288 RGD:152995292 RGD:152998934 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
JBrowse link
G ADA2 adenosine deaminase 2 treatment ISO RGD PMID:8656037 RGD:152995258 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473 NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:19159432 RGD:4145106 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:increased expression:pleural fluid, natural killer cell (human) RGD PMID:19159432 RGD:4145106 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G FOXP3 forkhead box P3 disease_progression ISO associated with human immunodeficiency virus infectious disease; RGD PMID:21303360 RGD:36947878 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226
G IL27 interleukin 27 exacerbates ISO protein:increased expression:alveolar system (human)
associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
RGD PMID:23962500 PMID:25753767 PMID:28844060 PMID:31819557 RGD:126790505 RGD:126790517 RGD:126790523 RGD:126790549 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL33 interleukin 33 ISO protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TNC tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
JBrowse link
Pneumonia, Ventilator-Associated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GC GC vitamin D binding protein ISO protein:increased expression:bronchoalveolar fluid: RGD PMID:21136918 RGD:5509873 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
JBrowse link
pulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 treatment ISO DNA:SNP: :2677G>A (human) RGD PMID:26067842 RGD:11098541 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ADA adenosine deaminase ISO protein:increased expression:plasma, respiratory system fluid/secretion
protein:increased activity:blood, pulmonary alveolar duct
protein:increased activity:sputum:
RGD PMID:2212911 PMID:12194640 PMID:19460251 RGD:152995271 RGD:152995390 RGD:5128854 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
JBrowse link
G ADA2 adenosine deaminase 2 ISO protein:increased activity:sputum: RGD PMID:19460251 RGD:152995271 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
JBrowse link
G AKT1 AKT serine/threonine kinase 1 susceptibility ISO DNA:SNP,haplotype:intron: IVS3+18 C/C (human) RGD PMID:20141546 RGD:38676498
G ALOX5 arachidonate 5-lipoxygenase susceptibility ISO DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) RGD PMID:18174194 RGD:4890411 NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,016...90,907,094
JBrowse link
G AMCF-II alveolar macrophage-derived chemotactic factor-II susceptibility ISO mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr 8:70,008,225...70,010,360
Ensembl chr 8:70,008,162...70,010,358
JBrowse link
G ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25774636 NCBI chr 4:10,103,860...10,451,928
Ensembl chr 4:10,179,758...10,451,929
JBrowse link
G ATF3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 9:130,772,259...130,829,678
Ensembl chr 9:130,772,262...130,785,506
JBrowse link
G C3 complement C3 ISO RGD PMID:19472039 RGD:5129500 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
JBrowse link
G CCL1 C-C motif chemokine ligand 1 susceptibility ISO mRNA:increased expression:lung, dendritic cell
DNA:SNP: :multiple (human)
RGD PMID:18703681 PMID:19057661 RGD:4891408 RGD:4891409 NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 susceptibility ISO DNA:polymorphism: :-2518A>G (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16352737 PMID:18940815 PMID:20111728 RGD:4891439 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCL5 C-C motif chemokine ligand 5 susceptibility ISO DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human)
mRNA:increased expression:lung (human)
RGD PMID:15128813 PMID:19335954 RGD:4891879 RGD:4892112 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCR2 C-C motif chemokine receptor 2 disease_progression ISO RGD PMID:11438742 RGD:734715 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human) RGD PMID:16379602 RGD:4892094 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G CD14 CD14 molecule susceptibility ISO protein:increased expression:monocyte, serum
DNA:polymorphism:promoter:c. -159C>T (human)
RGD PMID:18008256 RGD:4144205 NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood plasma, CD14-positive monocyte (human)
protein:increased expression:blood serum (human)
RGD PMID:27684274 PMID:27685837 RGD:127285801 RGD:127345136 NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
JBrowse link
G CD1D CD1d molecule susceptibility ISO DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) RGD PMID:30972222 RGD:127345096 NCBI chr 4:92,096,670...92,101,177
Ensembl chr 4:92,094,700...92,101,095
JBrowse link
G CD209 CD209 molecule susceptibility ISO CTD Direct Evidence: marker/mechanism
associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human)
DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)
CTD
RGD
PMID:16379498 PMID:19126442 PMID:24874302 RGD:39938981 RGD:39939062 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G CD274 CD274 molecule ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
JBrowse link
G CD36 CD36 molecule susceptibility ISO DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
JBrowse link
G CD86 CD86 molecule ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
JBrowse link
G CRP C-reactive protein, pentraxin-related severity ISO associated with HIV Infections RGD PMID:21197091 PMID:21219690 RGD:5131284 RGD:5131287 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL2 chemokine (C-X-C motif) ligand 2 disease_progression ISO RGD PMID:20454613 RGD:5135037 NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 exacerbates ISO protein:increased expression:serum (human)
RNA:increased expression:blood plasma (human)
RGD PMID:16001981 PMID:27434276 RGD:150523784 RGD:39939055 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CYBA cytochrome b-245 alpha chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO associated with lung adenocarcinoma; RGD PMID:22173705 PMID:29621876 RGD:38599162 RGD:38599176 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569
JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,914,756
JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chr16:66,138,157...66,160,568
Ensembl chr16:66,139,535...66,160,538
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:32369456 RGD:39939073 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
JBrowse link
G IL13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:9176116 RGD:4142835 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO RGD PMID:28128217 RGD:39938965 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO protein:increased expression:lung, serum RGD PMID:10543265 PMID:10631206 PMID:14619382 RGD:4143174 RGD:4143179 RGD:4143180
G IL23A interleukin 23 subunit alpha ISO mRNA:increased expression:lung (mouse) RGD PMID:11801672 PMID:16002675 PMID:20624887 PMID:21156751 RGD:39457949 RGD:39457953 RGD:39458036 RGD:39458038 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G IL27 interleukin 27 exacerbates ISO DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human)
DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)
RGD PMID:30948177 PMID:31949807 RGD:126790508 RGD:39456132 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL27RA interleukin 27 receptor subunit alpha ISO RGD PMID:15749890 RGD:5128486 NCBI chr 2:65,127,278...65,149,665
Ensembl chr 2:65,127,287...65,149,740
JBrowse link
G IL33 interleukin 33 ISO RGD PMID:28128217 RGD:39938965 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G IL4 interleukin 4 severity ISO RGD PMID:20832364 RGD:5128550 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL4R interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IL6R interleukin 6 receptor ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
JBrowse link
G IRF1 interferon regulatory factor 1 ISO RGD PMID:11083808 RGD:5128719 NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased phosphorylation:macrophage, nucleus RGD PMID:19737230 RGD:4889999 NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
JBrowse link
G LCN2 lipocalin 2 disease_progression
exacerbates
ISO RGD PMID:19050270 PMID:30534124 RGD:126779558 RGD:126779565 NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
JBrowse link
G LOC110258578 interleukin-1 beta-like severity
susceptibility
ISO protein:increased expression:lung
DNA:polymorphism: :3953T>C (human)
protein:increased expression:bronchioalveolar lavage fluid (human)
RGD PMID:10543265 PMID:10631206 PMID:16634865 RGD:4143179 RGD:4143180 RGD:5147843
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
JBrowse link
G MARCO macrophage receptor with collagenous structure susceptibility ISO DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
DNA:SNP: :rs12998782(human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)
RGD PMID:23617307 PMID:27853145 PMID:28693442 RGD:41412192 RGD:41412194 RGD:41412195 NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MIF macrophage migration inhibitory factor susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
JBrowse link
G MIR30A microRNA mir-30a disease_progression ISO RGD PMID:25866116 RGD:35668864 NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
JBrowse link
G MMP8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16982845 RGD:5130746 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility ISO DNA:SNPs:CDs:p.P268S, R702W, A725G (human) RGD PMID:18419343 RGD:5131510 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G NOS2 nitric oxide synthase 2 ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,105...216,657,170
JBrowse link
G PLAUR plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA:SNPs:cds:788G>A, 1858C>T (human) RGD PMID:19563523 RGD:6484723 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G SFTPA1 surfactant protein A1 susceptibility ISO DNA:SNP:intron:1416C>T (human)
DNA:SNPs:exons:307G>A, 776C>T (human)
RGD PMID:12476938 PMID:16292672 RGD:4144874 RGD:4144875 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO DNA:polymorphism:intron (human)
DNA:deletion:3'UTR:
RGD PMID:21169917 PMID:24024195 RGD:36049753 RGD:5684974 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
JBrowse link
G TLR1 toll like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO DNA:polymorphism:intron (human)
DNA:SNP: :rs1816702 (human)
DNA:polymorphisms: :multiple (human)
mRNA, protein:increased expression:blood, T cell
RGD PMID:19552525 PMID:19723394 PMID:20113509 PMID:20298136 RGD:4145304 RGD:4145320 RGD:4145323 RGD:4145355 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 severity
susceptibility
ISO protein:increased expression:monocyte
DNA:polymorphisms:cds: p. D299F, T399I (human)
DNA:SNP:intron: rs5030729 (human)
RGD PMID:18008256 PMID:19575238 PMID:20403143 RGD:4144106 RGD:4144122 RGD:4144205 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TLR9 toll like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:19771452 RGD:5130704 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
JBrowse link
G TNF tumor necrosis factor susceptibility
disease_progression
ISO DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) RGD PMID:9176116 PMID:18212516 PMID:20650298 RGD:4142835 RGD:4143388 RGD:4143395 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 disease_progression ISO RGD PMID:29844416 RGD:126925977 NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs:5' UTR (human)
DNA:SNPs:promoter, 3' UTR (human)
DNA:SNPs (human)
DNA:SNP (human)
RGD PMID:15295697 PMID:17236578 PMID:18231846 PMID:18397302 PMID:20231985 RGD:4889830 RGD:4889842 RGD:4889845 RGD:4889849 RGD:4889853 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
JBrowse link
Recurrence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,719...117,450,863
JBrowse link
G ABCA8 ATP binding cassette subfamily A member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr12:11,366,734...11,447,297
Ensembl chr12:11,373,238...11,447,295
JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331
JBrowse link
G ABCB8 ATP binding cassette subfamily B member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr18:6,178,550...6,197,012
Ensembl chr18:6,178,554...6,197,226
JBrowse link
G ABCC10 ATP binding cassette subfamily C member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr 7:38,432,720...38,452,689
Ensembl chr 7:38,432,732...38,452,686
JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22304828 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048
JBrowse link
G CCNE1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19385967 NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363
JBrowse link
G CD274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22396772 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 6:67,017,410...67,086,685
Ensembl chr 6:67,017,417...67,086,711
JBrowse link
G COMT catechol-O-methyltransferase susceptibility ISO associated with heroin dependence; DNA:SNP:exon 4: (rs4680) p.V158M (human) RGD PMID:26345603 RGD:11534843 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8400267 NCBI chr 4:93,388,198...93,393,861
Ensembl chr 4:93,388,092...93,394,155
JBrowse link
G CST3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34019859 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
JBrowse link
G CTSL cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: therapeutic CTD PMID:22607768 NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,431...91,552,752
JBrowse link
G CXCL13 C-X-C motif chemokine ligand 13 ISO CTD Direct Evidence: therapeutic CTD PMID:22607768 NCBI chr 8:73,071,261...73,077,342 JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28112739 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953
JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21554491 NCBI chr 2:74,746,541...74,756,687
Ensembl chr 2:74,747,080...74,756,680
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20079691 PMID:21638049 PMID:26124351 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21638049 NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062074 NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146280 PMID:26124351 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
JBrowse link
G HCRT hypocretin neuropeptide precursor ISO associated with nicotine dependence;protein:decreased expression :blood plasma (human) RGD PMID:30117237 RGD:401960073 NCBI chr12:20,588,597...20,589,991
Ensembl chr12:20,588,027...20,589,988
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27816970 NCBI chr 4:101,420,941...101,440,302
Ensembl chr 4:101,420,872...101,438,126
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G ITPA inosine triphosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23029095 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
JBrowse link
G LOC110257900 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22904298 NCBI chr  Y:4,965,886...4,992,529 JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20131314 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540
JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25596746 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,459...114,145,109
JBrowse link
G PGR progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20078871 NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 9:129,114,668...129,248,898
Ensembl chr 9:129,055,698...129,248,578
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
JBrowse link
G TOP1 DNA topoisomerase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:30132517 NCBI chr17:43,710,270...43,799,700
Ensembl chr17:43,710,290...43,799,700
JBrowse link
G TOP2A DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20079691 PMID:22204715 PMID:30132517 NCBI chr12:22,001,300...22,028,452
Ensembl chr12:22,001,282...22,028,450
JBrowse link
G VEGFC vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26124351 NCBI chr15:39,037,764...39,136,234
Ensembl chr15:39,039,311...39,132,936
JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603
JBrowse link
renal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX54 DEAD-box helicase 54 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:31256877 NCBI chr14:38,650,660...38,668,266
Ensembl chr14:38,645,891...38,668,265
JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:28492532 NCBI chr 4:63,970,939...64,328,107
Ensembl chr 4:63,970,807...64,328,105
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673
JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:35005812 NCBI chr14:111,822,334...111,914,950
Ensembl chr14:111,823,308...111,913,969
JBrowse link
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr 6:28,883,148...28,945,904
Ensembl chr 6:28,883,646...28,945,905
JBrowse link
G RET ret proto-oncogene ISO DNA:SNP:exon 7:rs1800860 (human) RGD PMID:18820179 RGD:155641253 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412
JBrowse link
G WNT9B Wnt family member 9B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:34145744 NCBI chr12:17,709,046...17,733,434
Ensembl chr12:17,709,046...17,733,431
JBrowse link
renal tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4R interleukin 4 receptor ISO protein:decreased expression:serum
DNA:polymorphism:cds:p.I50V (human)
RGD PMID:19548368 PMID:21251883 RGD:5128510 RGD:7207069 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
JBrowse link
Roifman-Chitayat Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IVD isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic OMIM
ClinVar
PMID:19863561 PMID:29180244 NCBI chr 1:130,916,956...130,930,172
Ensembl chr 1:130,916,146...130,930,078
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic OMIM
ClinVar
PMID:9536098 PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 More... NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
JBrowse link
Seckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase susceptibility ISO ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1
DNA:point mutation:2101A>G (human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 More... RGD:1599404 NCBI chr13:83,175,515...83,289,986
Ensembl chr13:83,174,824...83,289,989
JBrowse link
G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 1 ClinVar PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532 NCBI chr11:289,660...357,920
Ensembl chr11:289,653...355,581
JBrowse link
G CEP152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chr 1:122,876,146...122,979,851
Ensembl chr 1:122,876,141...122,979,845
JBrowse link
G PCNT pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRIPT CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies OMIM
ClinVar
PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 PMID:31101064 NCBI chr 3:93,911,425...93,925,916 JBrowse link
G PIGF phosphatidylinositol glycan anchor biosynthesis class F ISO ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies ClinVar PMID:27250922 NCBI chr 3:93,925,886...93,973,531
Ensembl chr 3:93,925,881...93,973,528
JBrowse link
short stature, hearing loss, retinitis pigmentosa, and distinctive facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies OMIM
ClinVar
PMID:14647208 PMID:15060126 PMID:24447024 PMID:25741868 PMID:26843489 More... NCBI chr 1:270,748,534...270,757,717
Ensembl chr 1:270,748,537...270,758,111
JBrowse link
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3GL RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay OMIM
ClinVar
PMID:25741868 PMID:31089205 PMID:31695177 NCBI chr 4:99,362,945...99,380,299 JBrowse link
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POC1A POC1 centriolar protein A ISO ClinVar Annotator: match by term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis OMIM
ClinVar
PMID:18414213 PMID:22440536 PMID:22840363 PMID:22840364 PMID:25558065 More... NCBI chr13:34,227,884...34,308,099
Ensembl chr13:34,227,457...34,308,083
JBrowse link
Silicotuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STING1 stimulator of interferon response cGAMP interactor 1 severity ISO RGD PMID:31141689 RGD:39128194 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
Silver-Russell Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chr 2:1,469,183...1,496,417 JBrowse link
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome OMIM
ClinVar
PMID:22495309 PMID:25363768 PMID:25741868 PMID:28135719 PMID:28191890 More... NCBI chr12:53,135,767...53,163,244
Ensembl chr12:53,139,366...53,163,243
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr12:53,111,249...53,112,487 JBrowse link
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100513346 mitochondrial import inner membrane translocase subunit TIM16 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar
PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr 3:37,928,098...38,005,619
Ensembl chr 3:37,928,096...37,985,151
JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr  X:120,777,559...121,263,574
Ensembl chr  X:120,777,734...121,263,569
JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr 6:67,605,863...68,471,922
Ensembl chr 6:67,605,790...68,471,920
JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type OMIM
ClinVar
PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 More... NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228
JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560
JBrowse link
Thrombocytopenia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAP1B RAP1B, member of RAS oncogene family ISO ClinVar Annotator: match by term: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies ClinVar
OMIM
PMID:12213964 PMID:25741868 PMID:25935485 PMID:29235861 PMID:32627184 More... NCBI chr 5:32,910,181...32,961,972
Ensembl chr 5:32,910,259...32,964,870
JBrowse link
Thrombocytopenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: Thrombocytopenia 8, with dysmorphic features and developmental delay OMIM
ClinVar
PMID:10411937 PMID:25255767 PMID:28492532 PMID:30315159 PMID:30733661 More... NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356
JBrowse link
trichohepatoenteric syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NELFE negative elongation factor complex member E ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar NCBI chr 7:24,040,525...24,046,932
Ensembl chr 7:24,040,525...24,047,025
JBrowse link
G SKIC2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 PMID:28496993 More... NCBI chr 7:24,047,000...24,057,621
Ensembl chr 7:24,047,010...24,057,621
JBrowse link
G SKIC3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 More... NCBI chr 2:102,079,675...102,164,020
Ensembl chr 2:102,079,685...102,163,938
JBrowse link
trichohepatoenteric syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGK acylglycerol kinase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 More... NCBI chr18:8,263,761...8,369,060
Ensembl chr18:8,263,896...8,368,972
JBrowse link
G SKIC3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 OMIM
ClinVar
PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 More... NCBI chr 2:102,079,675...102,164,020
Ensembl chr 2:102,079,685...102,163,938
JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SKIC2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 OMIM
ClinVar
PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 More... NCBI chr 7:24,047,000...24,057,621
Ensembl chr 7:24,047,010...24,057,621
JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPS1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III OMIM
ClinVar
PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 More... NCBI chr 4:22,905,627...23,162,862
Ensembl chr 4:22,905,637...23,159,546
JBrowse link
tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor severity ISO RGD PMID:22698798 RGD:6767307 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G BTNL2 butyrophilin like 2 susceptibility
no_association
ISO DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) RGD PMID:17347014 PMID:20176143 RGD:9685035 RGD:9685036 NCBI chr 7:24,789,988...24,809,920
Ensembl chr 7:24,790,614...24,807,432
JBrowse link
G CBS cystathionine beta-synthase severity ISO protein:increased expression:macrophages (mouse) RGD PMID:31992699 RGD:40903052 NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248
JBrowse link
G CCL1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCL4 C-C motif chemokine ligand 4 severity ISO associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) RGD PMID:31276515 RGD:41404639 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
JBrowse link
G CD209 CD209 molecule susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G CD274 CD274 molecule ISO mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
JBrowse link
G CD8A CD8 subunit alpha susceptibility ISO associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human)
mRNA:decreased expression:blood (human)
RGD PMID:26725873 PMID:27553407 RGD:124715445 RGD:124715450 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO mRNA:increased expression:lung, spleen (mouse) RGD PMID:28558034 RGD:40903038 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
JBrowse link
G CIITA class II major histocompatibility complex transactivator susceptibility ISO knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time RGD PMID:12828554 RGD:5491205 NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
JBrowse link
G CISH cytokine inducible SH2 containing protein susceptibility ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to OMIM
ClinVar
PMID:20484391 NCBI chr13:33,086,280...33,090,540
Ensembl chr13:33,085,286...33,090,858
JBrowse link
G CORO1A coronin 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility ISO DNA:SNP:promoter:-251A>T (human)
protein:increased expression:blood plasma, erythrocyte (human)
RGD PMID:26300588 PMID:32393145 RGD:11250849 RGD:150520198 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
JBrowse link
G CYP2B6B cytochrome P450 family 2 subfamily B member 6B treatment ISO DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human)
associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)
RGD PMID:28389387 PMID:30239753 RGD:41410886 RGD:41412160 NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334
JBrowse link
G CYP2C49 cytochrome P450 2C49 treatment ISO DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) RGD PMID:27393733 RGD:124713542 NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569
JBrowse link
G HAS1 hyaluronan synthase 1 ISO RGD PMID:19876387 RGD:9588638 NCBI chr 6:58,303,274...58,313,486
Ensembl chr 6:58,302,799...58,313,486
JBrowse link
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G IFNG interferon gamma ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against ClinVar
OMIM
PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IFNGR1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM
PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 More... NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
JBrowse link
G IL12RB1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:9603733 PMID:12591909 PMID:28492532 NCBI chr 2:59,707,958...59,736,282
Ensembl chr 2:59,707,961...59,736,282
JBrowse link
G IL15 interleukin 15 ISO mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G IL22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513
JBrowse link
G IL27 interleukin 27 exacerbates ISO associated with Pleural Effusion;protein:increased expression:pleural effusion (human)
mRNA:increased expression:blood (human)
RGD PMID:25511588 PMID:26282876 RGD:11086047 RGD:126790514 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL33 interleukin 33 ISO associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921
JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO RGD PMID:16619285 PMID:23922903 RGD:39018558 RGD:39128143 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr13:33,097,329...33,125,820
Ensembl chr13:33,097,393...33,125,818
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) RGD PMID:31586142 RGD:42722614 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
JBrowse link
G NRG1 neuregulin 1 susceptibility ISO DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:27865385 RGD:41412174 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:30514491 RGD:38599199 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:29892302 RGD:127229926 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
JBrowse link
G SLC11A1 solute carrier family 11 member 1 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by OMIM
ClinVar
PMID:16103355 PMID:25741868 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G SP110 SP110 nuclear body protein susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM
PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More... NCBI chr15:131,169,911...131,226,543
Ensembl chr15:131,169,917...131,226,544
JBrowse link
G SP140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:16803959 PMID:16816019 PMID:17149599 NCBI chr15:131,225,305...131,292,172
Ensembl chr15:131,226,626...131,292,170
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29791904 RGD:39128196 NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
G TIRAP TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165
JBrowse link
G TLR1 toll like receptor 1 susceptibility ISO DNA:snps, haplotype:cds:p.N248S, p.S602I (human) RGD PMID:18091991 RGD:7246918 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to OMIM
ClinVar
PMID:14979495 PMID:16081826 PMID:22992740 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:12218133 RGD:4144821 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO DNA:snp:3' utr:g.*215C>T rs3397 (human) RGD PMID:20007930 RGD:5131209 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
JBrowse link
G VDR vitamin D receptor susceptibility ISO associated with HIV Infections;DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
JBrowse link
Tumor Predisposition Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated protein 1 ISO ClinVar Annotator: match by term: Tumor predisposition syndrome ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 PMID:29625052 More... NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
JBrowse link
Tumor Predisposition Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated protein 1 susceptibility ISO ClinVar Annotator: match by term: BAP1 tumor predisposition syndrome | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations OMIM
ClinVar
PMID:1189319 PMID:9536098 PMID:16199547 PMID:16341802 PMID:17576681 More... NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr13:34,455,154...34,544,147
Ensembl chr13:34,445,498...34,544,148
JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:24763289 More... NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:25318351 PMID:25741868 PMID:28492532 PMID:31386297 PMID:35449176 NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628
JBrowse link
Tumor Predisposition Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBD4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: Tumor predisposition syndrome 2 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 More... NCBI chr13:68,816,677...68,828,559
Ensembl chr13:68,816,679...68,828,580
JBrowse link
Turnpenny-Fry Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCGF2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Turnpenny-fry syndrome OMIM
ClinVar
PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:28492532 More... NCBI chr12:23,362,631...23,375,779
Ensembl chr12:23,362,654...23,375,775
JBrowse link
urofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPSE2 heparanase 2 (inactive) ISO ClinVar Annotator: match by term: Ochoa syndrome ClinVar PMID:25741868 NCBI chr14:109,764,511...110,469,064
Ensembl chr14:109,764,170...110,469,141
JBrowse link
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:107,348,662...107,511,308
Ensembl chr 4:107,348,669...107,492,516
JBrowse link
Urofacial Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPSE2 heparanase 2 (inactive) ISO ClinVar Annotator: match by term: Urofacial syndrome type 1 OMIM
ClinVar
PMID:11446407 PMID:19669792 PMID:19839856 PMID:20560209 PMID:20560210 More... NCBI chr14:109,764,511...110,469,064
Ensembl chr14:109,764,170...110,469,141
JBrowse link
Urofacial Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 ISO ClinVar Annotator: match by term: Urofacial syndrome 2 OMIM
ClinVar
PMID:23313374 PMID:25741868 NCBI chr 4:107,348,662...107,511,308
Ensembl chr 4:107,348,669...107,492,516
JBrowse link
Uruguay faciocardiomusculoskeletal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Uruguay Faciocardiomusculoskeletal syndrome OMIM
ClinVar
PMID:11102932 PMID:19716112 PMID:24634512 PMID:25741868 PMID:26467025 More... NCBI chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903
JBrowse link
Verheij Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUF60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Verheij syndrome OMIM
ClinVar
PMID:18414213 PMID:24140112 PMID:25741868 PMID:27804958 PMID:28074499 More... NCBI chr 4:812,137...824,321
Ensembl chr 4:812,131...824,318
JBrowse link
VERVERI-BRADY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Ververi-Brady syndrome OMIM
ClinVar
PMID:25741868 PMID:28692176 PMID:30281152 PMID:33009816 PMID:34859529 NCBI chr13:31,663,812...31,714,523
Ensembl chr13:31,658,642...31,714,455
JBrowse link
Wiedemann-Steiner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome OMIM
ClinVar
PMID:5519603 PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 More... NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884
JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:46,143,738...46,202,187
Ensembl chr  X:46,144,920...46,218,543
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    Pathological Conditions, Signs and Symptoms 11770
      Pathologic Processes 7315
        Disease Attributes 802
          Acute Disease 0
          Asymptomatic Diseases + 0
          Catastrophic Illness 0
          Chronic Disease + 1
          Convalescence 0
          Critical Illness 6
          Disease Progression + 209
          Disease Resistance 0
          Disease Susceptibility + 170
          Diseases in Twins 0
          Emergencies 0
          Facies + 428
          Iatrogenic Disease + 1
          Late Onset Disorders 0
          Neglected Diseases 0
          Rare Diseases 0
          Recurrence + 41
          Undiagnosed Diseases 0
paths to the root