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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


show annotations for term's descendants           Sort by:
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 4:90,671,891...90,846,501
Ensembl chr 4:101,336,286...101,510,517 		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:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		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 chr 9:40,898,593...40,911,159
Ensembl chr 9:83,324,238...83,336,756 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649 		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 chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		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 4:104,786,721...104,931,981
Ensembl chr 4:115,430,258...115,495,026 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905 		JBrowse link
G AP1AR adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:104,720,583...104,762,097
Ensembl chr 4:115,282,727...115,322,872 		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 4:104,635,223...104,678,361 JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 6:1,429,051...1,433,180 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 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003 		JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 4:105,002,447...105,005,704 JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474 		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:10490637 PMID:11301317 More... NCBI chr 4:103,112,624...103,137,356 JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:112,896,606...113,127,400
Ensembl chr 4:124,036,911...124,252,928 		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 4:104,765,007...104,776,217 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 4:105,026,069...105,128,226
Ensembl chr 4:115,590,311...115,686,089 		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 | ClinVar Annotator: match by term: Ayme-gripp syndrome OMIM
ClinVar		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chr16:60,188,494...60,194,871 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...
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087 		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...
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087 		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:16773128 More... NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087 		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 chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111 		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 chr16:1,965,875...1,969,595
Ensembl chr16:3,138,229...3,141,876 		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 chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989 		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 chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617 		JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581 		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 5:33,005,488...33,007,881
Ensembl chr 5:33,323,233...33,326,569 		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 chr 3:44,656,791...44,774,655
Ensembl chr 3:45,713,962...45,809,700 		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 chr18:73,757,926...73,789,771
Ensembl chr18:77,080,441...77,103,098 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:72,468,421...72,847,314
Ensembl chr18:75,686,430...75,988,106 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,279,510...73,357,718
Ensembl chr18:76,646,641...76,722,573 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:70,643,718...70,664,068
Ensembl chr18:73,899,995...73,917,752 		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 chr18:73,608,483...73,615,823 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 chr18:73,431,735...73,546,602 JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,806,710...73,904,494
Ensembl chr18:77,122,483...77,167,659 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,679,972...73,696,321
Ensembl chr18:76,997,888...77,013,864 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:72,381,249...72,403,789 JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,549,273...73,596,658
Ensembl chr18:76,869,584...76,915,363 		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 chr18:73,618,302...73,679,603
Ensembl chr18:76,937,460...76,952,428 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:70,213,383...70,361,741
Ensembl chr18:73,496,761...73,617,956 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:69,748,472...69,891,026
Ensembl chr18:73,026,076...73,103,609 		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:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 NCBI chr 3:108,694,670...108,798,114
Ensembl chr 3:115,619,374...115,720,858 		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 chr 5:69,174,411...69,245,801
Ensembl chr 5:74,216,244...74,288,588 		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 chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205 		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 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253 		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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		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 chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		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 chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:28492532 NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr15:45,440,597...45,446,007
Ensembl chr15:63,712,363...63,720,420 		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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		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 chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		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 chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		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 chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		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 chr15:19,466,344...19,510,553
Ensembl chr15:37,726,474...37,763,602 		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 NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465 		JBrowse link
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 5:128,292,700...128,374,511
Ensembl chr 5:134,457,398...134,532,625 		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 chr17:25,843,447...25,869,874 JBrowse link
Chromosome Xq28 Duplication Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100991836 sperm protein associated with the nucleus on the X chromosome N2 ISO ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome ClinVar NCBI chr  X:134,329,590...134,427,559 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 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439 		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 chr2B:117,013,343...117,175,296
Ensembl chr2B:235,820,182...235,979,780 		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 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692 		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 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		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 6:154,581,148...155,018,706 JBrowse link
G KDM8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 Ensembl chr16:27,577,230...27,595,164 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 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		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 chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		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 chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		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 chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946 		JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 PMID:26543203 NCBI chr2A:5,699,738...5,711,210 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 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		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: 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 6:154,581,148...155,018,706 JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr11:60,698,580...60,717,800
Ensembl chr11:64,037,108...64,055,727 		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 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		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 chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G SOX4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 6:21,422,846...21,427,779 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 6:21,422,846...21,427,779 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 chr12:38,655,236...38,670,618
Ensembl chr12:39,552,155...39,567,804 		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: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 NCBI chr19:44,600,696...44,697,643
Ensembl chr19:53,323,064...53,350,987 		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 chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508 		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 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		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 chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151 		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 chr22:4,589,448...4,594,628
Ensembl chr22:22,673,908...22,678,444 		JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr22:4,528,639...4,540,118
Ensembl chr22:22,615,969...22,624,567 		JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr22:4,609,422...4,638,903
Ensembl chr22:22,693,639...22,723,223 		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 OMIM
ClinVar		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		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 chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		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 chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946 		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 chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564 		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 chr11:60,698,580...60,717,800
Ensembl chr11:64,037,108...64,055,727 		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:28492532 More... NCBI chr12:32,726,150...32,753,366
Ensembl chr12:32,977,879...33,004,144 		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 chr2A:5,699,738...5,711,210 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 chr11:62,722,611...62,734,279 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 chr19:18,070,465...18,083,701
Ensembl chr19:19,040,682...19,046,584 		JBrowse link
G KLHL7 kelch like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919 		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 chr19:18,070,465...18,083,701
Ensembl chr19:19,040,682...19,046,584 		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 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919 		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 chr11:62,722,611...62,734,279 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 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919 		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 1:155,774,799...155,988,767
Ensembl chr 1:159,448,023...159,661,741 		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 PMID:28492532 NCBI chr 3:87,358,297...87,386,556
Ensembl chr 3:89,471,993...89,501,241 		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 chr 3:57,131,419...57,161,205
Ensembl chr 3:58,341,965...58,370,347 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:28492532 NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366 		JBrowse link
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 1:155,716,853...155,765,419
Ensembl chr 1:159,390,105...159,438,802 		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 chr 3:87,390,157...87,407,611
Ensembl chr 3:89,501,298...89,521,168 		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 chr15:54,272,142...54,285,102
Ensembl chr15:73,868,134...73,880,704 		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 chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474 		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 chr 7:44,138,345...44,285,606
Ensembl chr 7:44,177,204...44,324,683 		JBrowse link
Congenital Micromelic Dysplasia with Dislocation of Radius 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: MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS ClinVar PMID:25741868 PMID:28492532 NCBI chr13:74,408,999...75,588,065
Ensembl chr13:93,874,849...94,739,894 		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 chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690 		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 subfamily B member 1 treatment ISO DNA:SNP:exon:3435C>T(human) RGD PMID:29979333 RGD:39456099 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238 		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 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16670151 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554 		JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22493729 NCBI chr 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32558485 PMID:32998156 NCBI chr 3:45,733,361...45,823,810
Ensembl chr 3:46,840,037...46,929,864 		JBrowse link
G REN renin exacerbates ISO protein:increased activity:blood plasma (human) RGD PMID:30653055 RGD:125097479 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393 		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 6:1,429,051...1,433,180 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 4:103,112,624...103,137,356 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 chr 3:18,267,819...18,368,924
Ensembl chr 3:18,602,204...18,681,211 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33077894 PMID:35887345 NCBI chr 6:15,100,415...15,376,505
Ensembl chr 6:15,466,050...15,739,170 		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 chr19:52,701,314...52,721,612
Ensembl chr19:61,387,109...61,405,943 		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:25741916 PMID:26497905 More... NCBI chr22:11,912,043...11,995,497
Ensembl chr22:29,753,241...29,795,632 		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:108,988,561...109,006,946
Ensembl chr  X:119,384,655...119,402,775 		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 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DISTINCTIVE FACIAL DYSMORPHISM OMIM
ClinVar		 PMID:25741868 PMID:29351919 PMID:30929739 NCBI chr 5:133,732,400...133,816,988
Ensembl chr 5:139,863,922...139,947,895 		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 1:43,271,349...43,275,162
Ensembl chr 1:44,643,142...44,646,545 		JBrowse link
Disease Progression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA13 ATP binding cassette subfamily A member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 7:48,812,624...49,288,605
Ensembl chr 7:48,920,381...49,393,235 		JBrowse link
G ABCA7 ATP binding cassette subfamily A member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr19:62,811...77,897
Ensembl chr19:1,018,095...1,042,104 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20627363 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439 		JBrowse link
G ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25078270
G ABCC11 ATP binding cassette subfamily C member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr16:28,434,749...28,513,110
Ensembl chr16:47,326,502...47,408,690 		JBrowse link
G ABCD4 ATP binding cassette subfamily D member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr14:54,833,388...54,850,482
Ensembl chr14:73,684,109...73,701,344 		JBrowse link
G ABCF1 ATP binding cassette subfamily F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 6:30,314,216...30,333,912
Ensembl chr 6:31,184,831...31,203,059 		JBrowse link
G ABCF2 ATP binding cassette subfamily F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 7:142,800,378...142,814,184
Ensembl chr 7:154,946,877...154,965,800 		JBrowse link
G ABT1 activator of basal transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:26,428,906...26,432,706
Ensembl chr 6:27,086,465...27,088,668 		JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:121,946,527...122,000,273
Ensembl chr 5:127,718,978...127,771,047 		JBrowse link
G AMFR autocrine motility factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9241080 NCBI chr16:36,647,792...36,711,782
Ensembl chr16:55,780,633...55,843,744 		JBrowse link
G AMOTL1 angiomotin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34480788 NCBI chr11:89,743,625...89,890,334
Ensembl chr11:93,278,464...93,413,197 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:24473795 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		JBrowse link
G ARFGAP2 ADP ribosylation factor GTPase activating protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:47,109,678...47,122,015
Ensembl chr11:47,663,397...47,676,063 		JBrowse link
G ARG2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23424623 NCBI chr14:48,197,831...48,231,829
Ensembl chr14:67,075,941...67,109,962 		JBrowse link
G ATF2 activating transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23591579 NCBI chr2B:62,348,245...62,444,428
Ensembl chr2B:179,799,365...179,895,007 		JBrowse link
G ATP7B ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12216079 PMID:12509969 PMID:19296535 NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 PMID:21750559 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G BGN biglycan ISO CTD Direct Evidence: marker/mechanism CTD PMID:35234341 NCBI chr  X:143,045,298...143,059,892
Ensembl chr  X:152,931,608...152,946,292 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194 		JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:24571310 NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479 		JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 8:141,024,518...141,055,173
Ensembl chr 8:144,015,601...144,043,280 		JBrowse link
G C20H19orf33 chromosome 20 C19orf33 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:35142956 NCBI chr19:35,395,222...35,396,580
Ensembl chr19:43,969,247...43,970,601 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:10673208 PMID:11283936 PMID:16081686 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29103775 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CCNE1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19385967 NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35072892 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379 		JBrowse link
G CCT7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr2A:73,287,026...73,305,792
Ensembl chr2A:74,775,781...74,794,515 		JBrowse link
G CD274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27692344 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402 		JBrowse link
G CD44 CD44 molecule (IN blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009 		JBrowse link
G CD74 CD74 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:34797429 NCBI chr 5:145,825,635...145,836,916
Ensembl chr 5:151,830,311...151,841,334 		JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CDH2 cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23876460 NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325 		JBrowse link
G CDKL2 cyclin dependent kinase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25333262 NCBI chr 4:48,575,933...48,628,916
Ensembl chr 4:54,415,305...54,458,111 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34973135 NCBI chr20:46,533,163...46,535,282 JBrowse link
G CGA glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr22:9,757,038...9,811,171 JBrowse link
G CLCN3 chloride voltage-gated channel 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 4:161,838,061...161,943,072
Ensembl chr 4:173,925,474...174,011,681 		JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753
G CNPY2 canopy FGF signaling regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr12:32,599,047...32,604,934
Ensembl chr12:32,851,796...32,857,607 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr12:6,856,119...6,863,999
Ensembl chr12:6,770,675...6,778,199 		JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 8:141,158,494...141,176,354
Ensembl chr 8:144,148,075...144,166,043 		JBrowse link
G CRYBG1 crystallin beta-gamma domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr 6:104,175,754...104,385,329
Ensembl chr 6:108,048,568...108,257,222 		JBrowse link
G CSTA cystatin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461718 PMID:22287159 NCBI chr 3:119,417,489...119,432,244
Ensembl chr 3:126,323,901...126,338,430 		JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738331 PMID:29106415 PMID:34019859 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G CTSB cathepsin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr 8:7,333,498...7,359,264 JBrowse link
G CTSC cathepsin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847 		JBrowse link
G DDB1 damage specific DNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:56,599,422...56,633,140
Ensembl chr11:59,964,235...59,997,805 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204 		JBrowse link
G E2F2 E2F transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 1:22,696,695...22,722,840
Ensembl chr 1:23,683,293...23,707,951 		JBrowse link
G E2F4 E2F transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr16:47,537,841...47,544,591 JBrowse link
G E2F5 E2F transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 8:81,703,423...81,739,827
Ensembl chr 8:83,314,176...83,350,220 		JBrowse link
G E2F7 E2F transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr12:74,540,049...74,582,561
Ensembl chr12:77,388,950...77,433,262 		JBrowse link
G E2F8 E2F transcription factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr11:19,250,045...19,267,629
Ensembl chr11:19,162,837...19,179,744 		JBrowse link
G EDNRA endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194819 NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497 		JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21794976 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460 		JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20859196 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G EHD1 EH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35616188 NCBI chr11:60,208,840...60,236,513
Ensembl chr11:63,547,286...63,577,252 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26735578 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560 		JBrowse link
G EPHA2 EPH receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21479221 NCBI chr 1:15,259,915...15,292,983
Ensembl chr 1:16,253,513...16,284,787 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10897039 PMID:21638049 PMID:21750559 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21638049 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20104649 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		JBrowse link
G ESRRA estrogen related receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chr11:59,662,565...59,673,789
Ensembl chr11:63,009,295...63,018,744 		JBrowse link
G EXOSC5 exosome component 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:38,379,884...38,391,309
Ensembl chr19:46,886,326...46,897,703 		JBrowse link
G FAM168A family with sequence similarity 168 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:68,477,579...68,674,428
Ensembl chr11:71,698,901...71,766,921 		JBrowse link
G FAM83A family with sequence similarity 83 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:34931434 NCBI chr 8:119,877,517...119,905,848
Ensembl chr 8:122,633,373...122,661,709 		JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11594583 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:34390292 NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357 		JBrowse link
G FGD5 FYVE, RhoGEF and PH domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34427968 NCBI chr 3:14,732,712...14,856,251
Ensembl chr 3:15,072,214...15,195,608 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12644816 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146280 NCBI chr13:9,584,850...9,779,542 JBrowse link
G G3BP1 G3BP stress granule assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106762 NCBI chr 5:147,195,100...147,234,576
Ensembl chr 5:153,197,813...153,230,414 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29180066 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		JBrowse link
G HDAC3 histone deacetylase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34973135 NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322 		JBrowse link
G HDAC6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chr  X:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885 		JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:81,353,756...81,397,167
Ensembl chr11:84,961,298...85,004,740 		JBrowse link
G HNRNPL heterogeneous nuclear ribonucleoprotein L ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:35,943,720...35,959,795 JBrowse link
G HOXD10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34737577 NCBI chr2B:63,395,636...63,399,704
Ensembl chr2B:181,104,876...181,110,963 		JBrowse link
G HOXD11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33614284 NCBI chr2B:63,386,806...63,398,777 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12082015 PMID:32621833 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr20:2,766,598...2,772,571
Ensembl chr20:2,529,510...2,535,570 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738319 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL1RAP interleukin 1 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738319 NCBI chr 3:187,535,880...187,680,628
Ensembl chr 3:196,089,208...196,231,379 		JBrowse link
G ING1 inhibitor of growth family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr13:91,849,153...91,856,943
Ensembl chr13:110,963,405...110,970,691 		JBrowse link
G KCNJ12 potassium inwardly rectifying channel subfamily J member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34755307 NCBI chr17:30,190,240...30,233,740 JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22493729 NCBI chr 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20124447 NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604 		JBrowse link
G KLK3 kallikrein related peptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12644816 NCBI chr19:47,820,320...47,827,868
Ensembl chr19:56,712,305...56,718,123 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30654191 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LAMC2 laminin subunit gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr 1:158,697,084...158,763,209
Ensembl chr 1:162,862,785...162,921,864 		JBrowse link
G LAT2 linker for activation of T cells family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32587277 Ensembl chr 7:81,350,666...81,377,115 JBrowse link
G LOXL3 lysyl oxidase like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35841383 NCBI chr2A:74,598,870...74,622,502
Ensembl chr2A:76,105,957...76,128,495 		JBrowse link
G M6PR mannose-6-phosphate receptor, cation dependent ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr12:9,025,394...9,034,768
Ensembl chr12:9,256,706...9,266,428 		JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34797429 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009 		JBrowse link
G MKI67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22321834 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MRPL13 mitochondrial ribosomal protein L13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 8:117,087,845...117,135,142
Ensembl chr 8:119,856,492...119,903,642 		JBrowse link
G MRPS11 mitochondrial ribosomal protein S11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr15:67,159,746...67,172,891
Ensembl chr15:86,367,127...86,377,728 		JBrowse link
G MRPS18B mitochondrial ribosomal protein S18B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:30,360,136...30,368,735 JBrowse link
G MSLN mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:35396937 Ensembl chr16:777,146...783,449 JBrowse link
G MYB MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194 		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 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G NAXD NAD(P)HX dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr13:91,750,962...91,775,364
Ensembl chr13:110,867,144...110,891,404 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr2A:15,159,193...15,552,121
Ensembl chr2A:15,293,512...15,685,820 		JBrowse link
G NCAPG non-SMC condensin I complex subunit G ISO CTD Direct Evidence: marker/mechanism CTD PMID:34480403 NCBI chr 4:12,232,614...12,265,320
Ensembl chr 4:17,524,826...17,571,798 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:136,010,029...136,012,373 JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr2B:93,363,092...93,399,326
Ensembl chr2B:211,493,021...211,528,496 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:62,964,970...62,970,605
Ensembl chr11:66,276,638...66,282,320 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32621833 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085 		JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr20:2,760,689...2,766,596
Ensembl chr20:2,523,619...2,529,509 		JBrowse link
G NT5E 5'-nucleotidase ecto ISO CTD Direct Evidence: therapeutic CTD PMID:34773529 NCBI chr 6:83,333,428...83,379,585
Ensembl chr 6:86,615,409...86,661,601 		JBrowse link
G PA2G4 proliferation-associated 2G4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr12:32,801,085...32,810,441
Ensembl chr12:33,051,672...33,061,262 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr  X:11,967,944...11,985,837
Ensembl chr  X:19,330,508...19,348,443 		JBrowse link
G PHB1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29106415 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32621833 NCBI chr19:9,389,829...9,404,099
Ensembl chr19:10,053,254...10,066,853 		JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:58,495,348...58,605,309
Ensembl chr 5:60,160,274...60,227,806 		JBrowse link
G POLR3K RNA polymerase III subunit K ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 Ensembl chr16:37,772...44,598 JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:49,133,295...49,169,447
Ensembl chr19:58,011,383...58,047,577 		JBrowse link
G PRDX3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr10:115,738,346...115,749,482
Ensembl chr10:119,162,714...119,173,845 		JBrowse link
G PRDX4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr  X:16,266,501...16,285,458
Ensembl chr  X:23,641,701...23,660,267 		JBrowse link
G PREP prolyl endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:103,091,315...103,219,335
Ensembl chr 6:106,965,275...107,091,278 		JBrowse link
G PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr12:117,246,691...117,260,465
Ensembl chr12:120,624,004...120,637,585 		JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:56,153,965...56,169,821
Ensembl chr11:59,595,120...59,607,828 		JBrowse link
G PSMD14 proteasome 26S subunit, non-ATPase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr2B:48,602,395...48,705,229
Ensembl chr2B:165,972,229...166,074,879 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729295 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PTOV1 PTOV1 extended AT-hook containing adaptor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:46,863,575...46,874,494
Ensembl chr19:55,779,915...55,789,585 		JBrowse link
G PTPA protein phosphatase 2 phosphatase activator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 9:100,236,607...100,274,273
Ensembl chr 9:128,896,584...128,934,651 		JBrowse link
G PTPRF protein tyrosine phosphatase receptor type F ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647 		JBrowse link
G PUS1 pseudouridine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr12:129,583,040...129,598,328
Ensembl chr12:134,011,932...134,027,160 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr15:34,174,491...34,263,045
Ensembl chr15:52,498,202...52,529,984 		JBrowse link
G RAB27B RAB27B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr18:48,099,912...48,274,416
Ensembl chr18:51,542,842...51,604,061 		JBrowse link
G RAC2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35331739 NCBI chr22:18,138,517...18,159,023
Ensembl chr22:35,973,229...35,992,026 		JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:12,508,232...12,516,068
Ensembl chr19:13,250,718...13,258,482 		JBrowse link
G RANBP10 RAN binding protein 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr16:48,071,095...48,148,105
Ensembl chr16:67,460,311...67,536,892 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22614916 NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405 		JBrowse link
G RASAL2 RAS protein activator like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34826200 NCBI chr 1:153,609,277...153,986,155
Ensembl chr 1:157,303,646...157,670,415 		JBrowse link
G RCHY1 ring finger and CHY zinc finger domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28191284 NCBI chr 4:48,691,213...48,725,979
Ensembl chr 4:54,526,202...54,561,048 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 PMID:34973135 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G RIGI RNA sensor RIG-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170495 NCBI chr 9:32,230,012...32,302,159
Ensembl chr 9:33,040,000...33,110,557 		JBrowse link
G RNF168 ring finger protein 168 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34873829 NCBI chr 3:193,814,785...193,848,620
Ensembl chr 3:203,756,589...203,790,687 		JBrowse link
G RPL13 ribosomal protein L13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr16:70,312,241...70,314,956 JBrowse link
G RPL15 ribosomal protein L15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 3:23,829,041...23,832,838
Ensembl chr 3:24,152,479...24,157,337 		JBrowse link
G RPL18 ribosomal protein L18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:45,617,033...45,620,954
Ensembl chr19:54,209,173...54,213,293 		JBrowse link
G RPS15 ribosomal protein S15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753
G RPS19 ribosomal protein S19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:38,748,604...38,760,055
Ensembl chr19:47,254,157...47,264,953 		JBrowse link
G RPS21 ribosomal protein S21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr20:58,749,013...58,750,899
Ensembl chr20:60,072,483...60,073,962 		JBrowse link
G RPS26 ribosomal protein S26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr12:32,869,092...32,871,399
Ensembl chr12:33,119,551...33,121,920 		JBrowse link
G RPS6 ribosomal protein S6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 9:19,185,455...19,189,504
Ensembl chr 9:19,674,380...19,677,722 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21496433 NCBI chr11:3,956,528...3,999,205
Ensembl chr11:4,068,119...4,110,474 		JBrowse link
G RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 3:51,874,829...51,883,339
Ensembl chr 3:53,103,621...53,112,127 		JBrowse link
G RXRB retinoid X receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:32,765,818...32,772,876
Ensembl chr 6:33,880,758...33,887,820 		JBrowse link
G SERBP1 SERPINE1 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:66,652,473...66,671,889
Ensembl chr 1:68,509,843...68,531,911 		JBrowse link
G SIK2 salt inducible kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34491613 NCBI chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO associated with Colorectal Neoplasms RGD PMID:32359697 RGD:151361139 NCBI chr16:68,512,407...68,552,763 JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr20:2,571,393...2,580,642
Ensembl chr20:2,335,499...2,344,763 		JBrowse link
G SNX27 sorting nexin 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36029209 NCBI chr 1:126,968,370...127,052,942
Ensembl chr 1:130,612,787...130,695,863 		JBrowse link
G SNX5 sorting nexin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr20:17,901,450...17,928,664
Ensembl chr20:17,879,605...17,907,074 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29434186 NCBI chr21:18,029,831...18,037,526 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 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G SOD3 superoxide dismutase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 4:19,195,941...19,201,298
Ensembl chr 4:24,485,059...24,485,781 		JBrowse link
G SP1 Sp1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35072892 NCBI chr12:35,338,492...35,374,462
Ensembl chr12:36,127,681...36,158,356 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22488367 NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr2A:84,476,814...84,512,920
Ensembl chr2A:86,035,723...86,066,622 		JBrowse link
G SYMPK symplekin scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:42,824,847...42,872,867
Ensembl chr19:51,361,502...51,410,212 		JBrowse link
G TAF15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:20,948,186...20,985,925 JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21252717 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106762 NCBI chr10:116,142,127...116,165,631
Ensembl chr10:119,561,786...119,585,157 		JBrowse link
G TMEM63A transmembrane protein 63A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:201,306,608...201,344,627
Ensembl chr 1:206,307,554...206,343,458 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11552987 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822 		JBrowse link
G TOP1 DNA topoisomerase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:30132517 NCBI chr20:37,368,606...37,464,649
Ensembl chr20:38,468,452...38,562,652 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22204715 PMID:30132517 NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr16:2,578,483...2,637,996
Ensembl chr16:3,753,799...3,786,429 		JBrowse link
G TXNIP thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:121,763,312...121,767,468 JBrowse link
G UBXN1 UBX domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:58,033,304...58,035,893
Ensembl chr11:61,386,797...61,389,404 		JBrowse link
G URM1 ubiquitin related modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 9:99,492,453...99,513,046
Ensembl chr 9:128,160,984...128,179,700 		JBrowse link
G VCP valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29693262 NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588 		JBrowse link
G VEGFB vascular endothelial growth factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146280 NCBI chr11:59,591,750...59,595,926 JBrowse link
G WDR46 WD repeat domain 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:32,851,335...32,861,806
Ensembl chr 6:33,965,528...33,975,898 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27777383 NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30703373 NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301 		JBrowse link
G YEATS2 YEATS domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34686948 NCBI chr 3:180,736,213...180,847,545
Ensembl chr 3:188,903,615...189,016,942 		JBrowse link
G YY1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21792014 NCBI chr14:80,859,491...80,903,651 JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500 		JBrowse link
G ZNF593 zinc finger protein 593 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:25,430,971...25,431,964
Ensembl chr 1:26,497,845...26,498,847 		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 chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16537716 PMID:31569996 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27444301 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130021 NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685 		JBrowse link
G TSPAN12 tetraspanin 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130021 NCBI chr 7:112,790,606...112,861,730
Ensembl chr 7:125,478,472...125,549,091 		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 chr10:122,583,989...122,958,895
Ensembl chr10:126,852,441...127,165,048 		JBrowse link
G ADAM8 ADAM metallopeptidase domain 8 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,172,724...134,186,227 JBrowse link
G ADGRA1 adhesion G protein-coupled receptor A1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:133,984,718...134,043,217 JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634 		JBrowse link
G C8H10orf90 chromosome 8 C10orf90 homolog ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:122,987,122...123,243,653
Ensembl chr10:127,259,451...127,357,119 		JBrowse link
G CALY calcyon neuron specific vesicular protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,235,262...134,239,613 JBrowse link
G CFAP46 cilia and flagella associated protein 46 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:133,706,366...133,850,322 JBrowse link
G CLRN3 clarin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:124,464,925...124,493,994
Ensembl chr10:128,712,990...128,729,560 		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 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G DHX32 DEAH-box helicase 32 (putative) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:122,397,461...122,457,583
Ensembl chr10:126,661,521...126,706,460 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:123,485,345...124,041,337
Ensembl chr10:127,803,236...128,288,897 		JBrowse link
G DPYSL4 dihydropyrimidinase like 4 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:133,082,886...133,099,349 JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:126,432,326...126,561,328 JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,278,388...134,289,308 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 chr10:122,456,960...122,581,188
Ensembl chr10:126,721,288...126,844,601 		JBrowse link
G FOXI2 forkhead box I2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:124,325,031...124,327,965
Ensembl chr10:128,574,023...128,576,782 		JBrowse link
G FUOM fucose mutarotase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,267,265...134,274,665 JBrowse link
G GLRX3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:126,730,314...126,775,918
Ensembl chr10:130,973,022...131,019,742 		JBrowse link
G INPP5A inositol polyphosphate-5-phosphatase A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:133,437,718...133,681,116 JBrowse link
G INSYN2A inhibitory synaptic factor 2A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:123,716,226...123,777,268
Ensembl chr10:127,972,818...128,033,414 		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 chr10:128,763,675...128,853,537
Ensembl chr10:132,993,545...133,056,352 		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 Ensembl chr10:134,068,936...134,132,964 JBrowse link
G LRRC27 leucine rich repeat containing 27 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:133,223,381...133,274,362 JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422 		JBrowse link
G MKI67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555 		JBrowse link
G MTG1 mitochondrial ribosome associated GTPase 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,309,587...134,337,550 JBrowse link
G NKX6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:133,682,456...133,683,445 JBrowse link
G NPS neuropeptide S ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:124,135,616...124,139,845
Ensembl chr10:128,384,897...128,388,217 		JBrowse link
G PAOX polyamine oxidase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,294,760...134,307,179 JBrowse link
G PPP2R2D protein phosphatase 2 regulatory subunit Bdelta ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:128,602,457...128,663,706 JBrowse link
G PRAP1 proline rich acidic protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,248,728...134,268,442 JBrowse link
G PTPRE protein tyrosine phosphatase receptor type E ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:124,494,150...124,673,579
Ensembl chr10:128,836,367...128,922,584 		JBrowse link
G PWWP2B PWWP domain containing 2B ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:133,295,325...133,315,575 JBrowse link
G SPRN shadow of prion protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835
G STK32C serine/threonine kinase 32C ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:133,099,678...133,199,479 JBrowse link
G SYCE1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,866,705...134,878,566 JBrowse link
G TCERG1L transcription elongation regulator 1 like ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr10:127,777,993...127,997,905 JBrowse link
G TUBGCP2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,187,115...134,214,693 JBrowse link
G UTF1 undifferentiated embryonic cell transcription factor 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835
G VENTX VENT homeobox ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,144,411...134,149,277 JBrowse link
G ZNF511 zinc finger protein 511 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 Ensembl chr10:134,221,062...134,224,957
Ensembl chr10:134,221,062...134,224,957 		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 chr14:73,817,605...73,819,747
Ensembl chr14:93,154,232...93,156,065 		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 chr19:7,042,033...7,047,350 JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 4:49,806,505...49,827,961
Ensembl chr 4:55,641,014...55,660,568 		JBrowse link
G LOC100978434 C-type lectin domain family 4 member M susceptibility ISO DNA:repeats:exon 4: allele 6, allele 9 (human) RGD PMID:24874302 RGD:39938981 NCBI chr19:7,062,961...7,069,381 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 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602 		JBrowse link
G AFF4 ALF transcription elongation factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr 5:128,292,700...128,374,511
Ensembl chr 5:134,457,398...134,532,625 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19935664 NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30670789 NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614070 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605 		JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: facial dysmorphism ClinVar PMID:26660953 NCBI chr11:61,244,175...61,248,805
Ensembl chr11:64,573,537...64,578,328 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chr  X:136,937,889...136,976,828
Ensembl chr  X:147,365,748...147,405,321 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207787 PMID:9207788 NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383 		JBrowse link
G LOC100986445 ras-related protein Rab-40A-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581972 NCBI chr  X:91,944,973...92,162,929 JBrowse link
G MSL3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:4,385,861...4,403,467
Ensembl chr  X:11,672,109...11,693,468 		JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: facial dysmorphism ClinVar NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305 		JBrowse link
G TBCE tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613 		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 chr17:7,341,076...7,346,570
Ensembl chr17:7,327,363...7,333,270 		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 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303 		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:21035103 PMID:23922384 PMID:28492532 NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635 		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:17236192 PMID:17576681 PMID:17999364 More... NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259 		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 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635 		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 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635 		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 chr2A:89,293,727...89,322,182
Ensembl chr2A:113,747,536...113,775,619 		JBrowse link
G NT5DC4 5'-nucleotidase domain containing 4 ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:89,315,647...89,336,907
Ensembl chr2A:113,732,812...113,753,637 		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 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602 		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 chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111 		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 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602 		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 chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111 		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 chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802 		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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22311042 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238 		JBrowse link
G ACE angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:18727619 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16404797 PMID:17590986 NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079 		JBrowse link
G ADORA1 adenosine A1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19019667 NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760 		JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19019667 NCBI chr22:5,233,876...5,248,622
Ensembl chr22:22,104,253...22,114,189 		JBrowse link
G ALAD aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20123609 NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16404797 PMID:17590986 NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542 		JBrowse link
G ARHGEF5 Rho guanine nucleotide exchange factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29054765 NCBI chr 7:136,069,598...136,094,866
Ensembl chr 7:148,558,803...148,584,078 		JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24928783 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35362730 NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514 		JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356304 NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065 		JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14514962 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO CTD Direct Evidence: marker/mechanism CTD PMID:34182385 NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182 		JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		JBrowse link
G FCER1G Fc epsilon receptor Ig ISO CTD Direct Evidence: marker/mechanism CTD PMID:18595682 NCBI chr 1:136,627,672...136,631,696
Ensembl chr 1:140,539,555...140,544,810 		JBrowse link
G GATAD2A GATA zinc finger domain containing 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35362730 NCBI chr19:18,824,615...18,947,351
Ensembl chr19:19,873,119...19,942,670 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19222424 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22467534 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL4R interleukin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30472377 Ensembl chr16:27,642,702...27,737,445 JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19120683 NCBI chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128 		JBrowse link
G LOC100970753 alcohol dehydrogenase 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:16404797 NCBI chr 4:91,756,817...91,773,056
Ensembl chr 4:102,388,575...102,435,079 		JBrowse link
G LOC100971412 putative zinc finger protein 812 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29054765 NCBI chr19:9,222,233...9,233,375 JBrowse link
G LOC100982859 class I histocompatibility antigen, Gogo-B*0101 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:3459889 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067 		JBrowse link
G LOC100986475 metallothionein-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27122239 NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093 		JBrowse link
G LOC100987123 zinc finger protein 595 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29054765 NCBI chr 4:50,243...92,219 JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252 		JBrowse link
G MSH6 mutS homolog 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29616133 NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		JBrowse link
G MSLN mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:35396937 Ensembl chr16:777,146...783,449 JBrowse link
G MYO18B myosin XVIIIB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29054765 NCBI chr22:6,802,390...7,118,996
Ensembl chr22:24,529,348...24,816,779 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335 		JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493 		JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:29275364 NCBI chr 8:21,690,598...21,791,335
Ensembl chr 8:18,629,261...18,729,995 		JBrowse link
G RAD51 RAD51 recombinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613844 NCBI chr15:19,638,310...19,672,474
Ensembl chr15:37,891,056...37,925,207 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 Ensembl chr 5:1,437,567...1,488,829 JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr21:18,029,831...18,037,526 JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14514962 NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613844 NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037 		JBrowse link
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 PMID:28492532 NCBI chr 3:122,357,670...122,507,142
Ensembl chr 3:129,229,690...129,320,554 		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 chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802 		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: LAPS SYNDROME | 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 chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359 		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 chr11:111,613,940...111,623,539
Ensembl chr11:115,547,973...115,557,883 		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 chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231 		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 chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		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 chr16:7,609,282...7,718,049
Ensembl chr16:8,888,178...8,958,420 		JBrowse link
G CARHSP1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr16:7,788,614...7,802,850
Ensembl chr16:9,024,014...9,039,900 		JBrowse link
G METTL22 methyltransferase 22, Kin17 lysine ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr16:7,556,347...7,584,424
Ensembl chr16:8,796,912...8,821,692 		JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406 		JBrowse link
G TMEM114 transmembrane protein 114 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr16:7,504,370...7,525,404
Ensembl chr16:8,745,202...8,765,632 		JBrowse link
G TMEM186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr16:7,728,655...7,731,232
Ensembl chr16:8,969,078...8,971,654 		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 chr16:7,825,332...7,895,095
Ensembl chr16:9,065,858...9,106,146 		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:27657687 PMID:28492532 More... NCBI chr 1:180,750,987...180,820,096
Ensembl chr 1:185,041,994...185,107,041 		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 chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		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 chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817 		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 chr13:82,215,094...82,573,501
Ensembl chr13:101,354,054...101,693,223 		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 chr2B:97,029,102...97,257,181
Ensembl chr2B:215,434,343...215,660,423 		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:9536098 PMID:17576681 PMID:23749988 PMID:24075186 PMID:25533962 More... NCBI chr13:82,215,094...82,573,501
Ensembl chr13:101,354,054...101,693,223 		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 chr2B:97,029,102...97,257,181
Ensembl chr2B:215,434,343...215,660,423 		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 4:98,515,422...98,797,701
Ensembl chr 4:109,126,999...109,403,946 		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 chr10:113,862,457...113,958,281
Ensembl chr10:117,293,877...117,385,317 		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 chr17:69,407,161...69,449,735
Ensembl chr17:74,972,761...75,000,598 		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: FBXO11-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr2A:47,926,629...48,026,245
Ensembl chr2A:48,830,780...48,886,300 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: FBXO11-related condition | 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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		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:25741909 PMID:27939639 PMID:27939640 PMID:28492532 More... NCBI chr 3:9,684,091...9,700,376
Ensembl chr 3:9,922,769...9,939,016 		JBrowse link
G RPL10L ribosomal protein L10 like ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar NCBI chr14:27,254,150...27,255,381
Ensembl chr14:45,565,079...45,565,723 		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 8:87,733,597...87,750,481
Ensembl chr 8:89,685,766...89,702,659 		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 PMID:38177409 NCBI chr14:80,134,889...80,229,717 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 PMID:38177409 NCBI chr14:80,105,372...80,136,511
Ensembl chr14:99,438,814...99,480,842 		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 chr19:12,261,026...12,286,571
Ensembl chr19:13,006,110...13,032,317 		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 chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364 		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 chr12:67,753,703...67,865,375
Ensembl chr12:70,520,722...70,633,149 		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 chr16:54,331,300...54,338,656
Ensembl chr16:70,497,625...70,514,716 		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 chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651 		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 chr19:51,071,167...51,089,289
Ensembl chr19:59,913,040...59,931,108 		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 chr19:51,089,247...51,093,572
Ensembl chr19:59,931,039...59,935,332 		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 chr14:79,795,262...79,898,472 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:41,326,802...41,341,574
Ensembl chr  X:49,182,795...49,197,194 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRD5A3 steroid 5 alpha-reductase 3 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 4:68,565,400...68,591,400
Ensembl chr 4:75,131,196...75,155,347 		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 chr12:107,054,219...107,113,444
Ensembl chr12:110,455,011...110,506,216 		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 chr16:69,842,709...69,907,075
Ensembl chr16:89,467,997...89,523,825 		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:15955779 PMID:16199547 More... NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504 		JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:68,626,638...68,753,293 JBrowse link
G C18H16orf95 chromosome 18 C16orf95 homolog ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:67,973,069...67,987,773
Ensembl chr16:87,298,076...87,312,629 		JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:68,564,400...68,618,614 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 chr16:69,592,293...69,662,321
Ensembl chr16:89,246,545...89,347,435 		JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 Ensembl chr16:89,543,888...89,562,843 JBrowse link
G CDK10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr16:70,445,200...70,455,476
Ensembl chr16:90,109,492...90,119,532 		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 chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823 		JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr16:70,398,021...70,411,383
Ensembl chr16:90,003,892...90,017,653 		JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr16:70,327,952...70,349,898
Ensembl chr16:89,936,172...89,955,115 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231 		JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr16:70,365,900...70,392,377
Ensembl chr16:89,975,105...89,997,978 		JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147 		JBrowse link
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:67,997,481...68,053,081
Ensembl chr16:87,322,364...87,377,104 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036 		JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:69,347,233...69,353,562
Ensembl chr16:89,011,688...89,013,678 		JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:68,276,459...68,379,909
Ensembl chr16:87,596,814...87,700,235 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975 		JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:68,384,552...68,448,167
Ensembl chr16:87,702,744...87,764,605 		JBrowse link
G LOC100986914 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719 		JBrowse link
G LOC100994980 uncharacterized LOC100994980 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:70,078,378...70,079,849 JBrowse link
G LOC117976169 atherin ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:69,660,447...69,672,129 JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:68,063,869...68,076,772 JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964 		JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr16:69,579,421...69,583,803
Ensembl chr16:89,234,156...89,237,595 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068 		JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:69,409,777...69,419,761 JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr16:70,312,241...70,314,956 JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306 		JBrowse link
G SLC22A31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:68,512,407...68,552,763 JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:69,390,929...69,400,971
Ensembl chr16:89,051,479...89,059,704 		JBrowse link
G SPATA2L spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr16:70,455,469...70,460,872
Ensembl chr16:90,120,104...90,125,303 		JBrowse link
G SPATA33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr16:70,411,406...70,425,847
Ensembl chr16:90,017,678...90,031,020 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr22:2,521,080...2,541,267 JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835 NCBI chr16:69,571,438...69,575,556
Ensembl chr16:89,226,220...89,231,854 		JBrowse link
G VPS9D1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr16:70,465,158...70,479,141
Ensembl chr16:90,130,415...90,144,412 		JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:69,282,652...69,345,077
Ensembl chr16:88,944,517...89,005,199 		JBrowse link
G ZCCHC14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:68,078,237...68,165,406
Ensembl chr16:87,401,184...87,486,124 		JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:69,164,299...69,246,136 JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr16:70,478,127...70,498,672
Ensembl chr16:90,147,474...90,165,192 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390 		JBrowse link
G ZNF778 zinc finger protein 778 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835
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 chr21:23,983,485...24,284,759
Ensembl chr21:37,340,738...37,558,688 		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 chr11:57,972,509...57,979,702
Ensembl chr11:61,327,454...61,332,323 		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 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158 		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 chr11:58,046,842...58,064,219
Ensembl chr11:61,399,314...61,416,494 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:68,427,305...68,476,512
Ensembl chr10:70,951,190...70,994,936 		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 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635 		JBrowse link
G CSKMT citrate synthase lysine methyltransferase ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr11:58,022,013...58,023,905
Ensembl chr11:61,375,836...61,377,610 		JBrowse link
G GANAB glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr11:57,982,393...58,003,871
Ensembl chr11:61,336,487...61,357,908 		JBrowse link
G INTS5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr11:58,004,058...58,010,526
Ensembl chr11:61,358,029...61,364,549 		JBrowse link
G LBHD1 LBH domain containing 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532
G LOC134731237 ubiquinol-cytochrome-c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532
G LRRN4CL LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr11:58,042,970...58,046,697 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 chr11:57,970,290...57,972,658
Ensembl chr11:61,324,900...61,327,278 		JBrowse link
G UBXN1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr11:58,033,304...58,035,893
Ensembl chr11:61,386,797...61,389,404 		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 subfamily B 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 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238 		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 1:142,473,352...142,512,364
Ensembl chr 1:146,259,431...146,298,105 		JBrowse link
G IL32 interleukin 32 ISO mRNA:increased expression:blood (human) RGD PMID:25143364 RGD:150340735 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929 		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 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473 		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 chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201 		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 chr14:73,839,702...73,861,830
Ensembl chr14:93,176,149...93,198,150 		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:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More... NCBI chr22:9,757,038...9,811,171 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 chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		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 chr12:1,066,034...1,597,562
Ensembl chr12:1,027,967...1,545,431 		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 chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244 		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 Annotator: match by term: Macrocephaly/autism syndrome ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 More... NCBI chr10:84,581,971...84,587,420 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 chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		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 chr16:36,647,792...36,711,782
Ensembl chr16:55,780,633...55,843,744 		JBrowse link
G ANO7 anoctamin 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr2B:128,458,076...128,496,307
Ensembl chr2B:247,254,473...247,290,136 		JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		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 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		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 6:154,581,148...155,018,706 JBrowse link
G ASXL3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:26,781,382...26,953,935
Ensembl chr18:30,403,018...30,541,651 		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 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099 		JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 Ensembl chr16:29,209,115...29,226,239 JBrowse link
G B3GLCT beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:12,475,095...12,601,818
Ensembl chr13:30,927,270...31,035,719 		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 5:172,905,749...172,915,970
Ensembl chr 5:179,965,928...179,976,158 		JBrowse link
G BCL11A BCL11 transcription factor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800 		JBrowse link
G BEGAIN brain enriched guanylate kinase associated ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr14:81,157,642...81,209,503
Ensembl chr14:100,471,969...100,512,416 		JBrowse link
G CDH5 cadherin 5 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:46,684,545...46,722,740
Ensembl chr16:65,787,370...65,825,360 		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 5:171,846,538...171,893,797
Ensembl chr 5:178,916,707...178,964,893 		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 chr 7:44,138,345...44,285,606
Ensembl chr 7:44,177,204...44,324,683 		JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:126,314,483...126,324,312
Ensembl chr 1:129,962,022...129,972,722 		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 chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115 		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 chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361 		JBrowse link
G CIC capicua transcriptional repressor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28288114 NCBI chr19:39,156,204...39,183,498
Ensembl chr19:47,751,520...47,774,699 		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 chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511 		JBrowse link
G CLDN11 claudin 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:167,432,856...167,448,053
Ensembl chr 3:175,621,472...175,908,350 		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 chr17:15,338,085...15,349,089
Ensembl chr17:15,560,056...15,568,916 		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 chr2B:124,554,478...124,644,482 JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		JBrowse link
G DBN1 drebrin 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,758,316...172,774,974
Ensembl chr 5:179,820,791...179,836,872 		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:33,780,381...33,796,829
Ensembl chr  X:41,475,116...41,505,837 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,812,755...172,818,217
Ensembl chr 5:179,873,626...179,884,402 		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 chr11:12,131,306...12,177,906
Ensembl chr11:11,824,955...11,871,139 		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 chr17:7,219,911...7,247,509
Ensembl chr17:7,207,483...7,235,985 		JBrowse link
G DOK3 docking protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,803,094...172,812,613
Ensembl chr 5:179,864,910...179,874,190 		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 chr11:112,263,509...112,632,332
Ensembl chr11:116,196,677...116,302,262 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		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 NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564 		JBrowse link
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 5:171,941,013...171,944,691
Ensembl chr 5:179,010,207...179,014,809 		JBrowse link
G EMILIN3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr20:37,701,740...37,708,625
Ensembl chr20:38,797,882...38,804,515 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,703,724...172,711,618
Ensembl chr 5:179,766,243...179,773,485 		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 5:171,743,071...171,804,687
Ensembl chr 5:178,814,100...178,876,108 		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 5:172,820,255...172,855,574
Ensembl chr 5:179,884,021...179,915,964 		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 8:140,476,051...140,492,613
Ensembl chr 8:143,491,945...143,496,919 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711 		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 chr2A:47,926,629...48,026,245
Ensembl chr2A:48,830,780...48,886,300 		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 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605 		JBrowse link
G FKBP8 FKBP prolyl isomerase 8 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:18,009,505...18,021,772
Ensembl chr19:18,980,269...18,992,170 		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 chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117 		JBrowse link
G GLT8D2 glycosyltransferase 8 domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:101,567,144...101,640,505
Ensembl chr12:104,961,394...105,036,590 		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 5:171,893,831...171,915,437 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 5:172,704,978...172,744,907
Ensembl chr 5:179,790,662...179,807,410 		JBrowse link
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr2B:128,498,647...128,587,305
Ensembl chr2B:247,293,154...247,335,318 		JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,181,600...172,200,418
Ensembl chr 5:179,248,155...179,266,533 		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 chr20:45,636,371...45,821,536
Ensembl chr20:46,776,274...46,885,521 		JBrowse link
G LMAN2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,619,011...172,653,303
Ensembl chr 5:179,696,018...179,716,076 		JBrowse link
G LOC100988147 polycystin-1-like protein 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:61,736,153...61,770,746 JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649 		JBrowse link
G MTREX Mtr4 exosome RNA helicase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:58,604,582...58,722,532
Ensembl chr 5:60,227,431...60,345,303 		JBrowse link
G MXD3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,609,158...172,615,345
Ensembl chr 5:179,673,135...179,677,842 		JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:70,047,878...70,070,303
Ensembl chr11:73,353,332...73,373,270 		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 chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		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 9:13,923,516...14,376,264 JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr19:12,557,020...12,660,316
Ensembl chr19:13,327,690...13,402,406 		JBrowse link
G NKAP NFKB activating protein ISO DNA:missense mutations:exon 8-9:multiple (human) RGD PMID:31587868 RGD:155641252 NCBI chr  X:108,988,561...109,006,946
Ensembl chr  X:119,384,655...119,402,775 		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 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351 		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 1:145,635,789...145,658,564
Ensembl chr 1:149,352,738...149,374,488 		JBrowse link
G NUP205 nucleoporin 205 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:127,525,777...127,620,680
Ensembl chr 7:140,037,092...140,118,983 		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 chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726 		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 5:172,784,656...172,798,875
Ensembl chr 5:179,846,476...179,860,619 		JBrowse link
G PFN3 profilin 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,701,579...172,702,237
Ensembl chr 5:179,764,113...179,764,526 		JBrowse link
G PICALM phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:81,011,324...81,122,352
Ensembl chr11:84,619,241...84,730,684 		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 chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241 		JBrowse link
G PRELID1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,605,767...172,608,901
Ensembl chr 5:179,669,885...179,672,965 		JBrowse link
G PRR7 proline rich 7, synaptic ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,748,020...172,757,989
Ensembl chr 5:179,818,184...179,821,479 		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 5:172,603,410...172,605,696
Ensembl chr 5:179,667,583...179,669,864 		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 chr20:34,797,472...34,903,367
Ensembl chr20:35,906,029...36,011,685 		JBrowse link
G RANBP10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:48,071,095...48,148,105
Ensembl chr16:67,460,311...67,536,892 		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 5:172,659,323...172,674,084
Ensembl chr 5:179,721,876...179,739,453 		JBrowse link
G RNF44 ring finger protein 44 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:171,824,102...171,840,582 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 chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509 		JBrowse link
G SIDT1 SID1 transmembrane family member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:110,674,270...110,771,758
Ensembl chr 3:117,629,626...117,690,849 		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 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975 		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 chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624 		JBrowse link
G SNCB synuclein beta ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:171,918,297...171,928,672
Ensembl chr 5:178,988,439...178,998,800 		JBrowse link
G SPAG9 sperm associated antigen 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:45,053,292...45,211,488
Ensembl chr17:49,924,650...50,081,918 		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 Ensembl chr19:1,188,537...1,210,677 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 6:32,999,408...33,033,067
Ensembl chr 6:34,110,652...34,144,490 		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:60,630,137...60,729,904
Ensembl chr  X:70,684,217...70,782,323 		JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:6,582,266...6,592,762
Ensembl chr12:6,499,429...6,509,844 		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 chr2B:48,709,687...48,719,382 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 5:172,897,814...172,901,789
Ensembl chr 5:179,957,842...179,963,279 		JBrowse link
G TPCN2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:64,139,512...64,227,913
Ensembl chr11:67,438,635...67,478,106 		JBrowse link
G TSPAN17 tetraspanin 17 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:171,944,792...171,959,797
Ensembl chr 5:179,015,641...179,030,941 		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 5:172,205,958...172,321,758
Ensembl chr 5:179,271,577...179,374,229 		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 5:172,110,396...172,181,839
Ensembl chr 5:179,181,251...179,248,377 		JBrowse link
G WSCD2 WSC domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:105,699,932...105,822,088
Ensembl chr12:109,163,457...109,218,774 		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 chr 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259 		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 chr 3:111,445,520...112,275,946
Ensembl chr 3:118,389,250...118,431,453 		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 Ensembl chr20:61,667,319...61,713,895 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 chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500 		JBrowse link
G ZNF346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:172,321,875...172,386,462
Ensembl chr 5:179,390,239...179,449,071 		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 chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721 		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 Ensembl chr16:27,642,702...27,737,445 JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10318940 RGD:10449456 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		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 chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649 		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:10545612 PMID:11857736 PMID:16140555 PMID:19767586 More... NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389 		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 6:44,406,978...44,960,039 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 chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440 		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 7:2,070,299...2,502,471
Ensembl chr 7:2,187,104...2,601,328 		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 chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387 		JBrowse link
G ARHGAP15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:16,067,081...16,706,372
Ensembl chr2B:147,217,528...147,855,517 		JBrowse link
G GTDC1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr2B:15,512,420...15,899,477
Ensembl chr2B:148,026,117...148,312,426 		JBrowse link
G HNMT histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:21,840,342...21,892,744
Ensembl chr2B:142,036,321...142,088,315 		JBrowse link
G KYNU kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:16,792,401...16,947,766
Ensembl chr2B:146,975,995...147,132,634 		JBrowse link
G LRP1B LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243 		JBrowse link
G NXPH2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:21,071,974...21,184,767
Ensembl chr2B:142,745,699...142,751,017 		JBrowse link
G SPOPL speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:21,280,143...21,351,547
Ensembl chr2B:142,577,019...142,648,257 		JBrowse link
G THSD7B thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr2B:22,185,005...23,099,445
Ensembl chr2B:140,948,485...141,744,341 		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 chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500 		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:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms (human) RGD PMID:14522182 RGD:5147828 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		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: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | 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 chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME ClinVar PMID:25741868 NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657 		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 chr17:43,685,913...43,765,277
Ensembl chr17:48,417,634...48,440,623 		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 chr17:43,685,913...43,765,277
Ensembl chr17:48,417,634...48,440,623 		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 7:1,719,254...1,753,150
Ensembl chr 7:1,838,302...1,871,554 		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: HDAC4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies OMIM
ClinVar		 PMID:11486037 PMID:25741868 PMID:28492532 PMID:33537682 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054 		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 6:299,500...504,029
Ensembl chr 6:435,538...583,027 		JBrowse link
G HUS1B HUS1 checkpoint clamp component B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia ClinVar NCBI chr 6:466,508...469,590
Ensembl chr 6:601,288...602,124 		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 chr10:75,581,794...75,829,748
Ensembl chr10:78,294,867...78,492,475 		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 chr16:47,119,548...47,147,679
Ensembl chr16:66,221,829...66,246,865 		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 1:22,501,816...22,536,050
Ensembl chr 1:23,491,310...23,521,977 		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 chr14:2,169,169...2,201,911
Ensembl chr14:20,247,325...20,280,074 		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:25741905 PMID:32869858 PMID:33531666 PMID:35684946 NCBI chr19:47,440,309...47,447,199
Ensembl chr19:56,341,503...56,352,725 		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 chr19:47,430,860...47,440,894
Ensembl chr19:56,331,851...56,342,033 		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:28492532 PMID:28940097 PMID:29302074 PMID:32761064 NCBI chr11:47,216,006...47,276,422
Ensembl chr11:47,773,733...47,828,360 		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 chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667 		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 chr11:61,076,731...61,079,994
Ensembl chr11:64,411,804...64,413,819 		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 chr19:32,492,030...32,493,944
Ensembl chr19:41,229,033...41,230,960 		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:92,855,974...92,859,868
Ensembl chr  X:103,239,842...103,240,318 		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 LOC100991425 protein FRA10AC1 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 chr10:90,416,441...90,451,334
Ensembl chr10:93,935,893...93,959,257 		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 7:92,700,807...92,706,211
Ensembl chr 7:106,104,339...106,107,270 		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 9:53,367,505...54,272,917
Ensembl chr 9:69,292,593...69,606,949 		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 chr11:69,403,651...69,471,678
Ensembl chr11:72,715,549...72,777,824 		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:25741868 PMID:35977029 NCBI chr 1:129,575,115...129,626,565
Ensembl chr 1:133,189,194...133,240,090 		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 chr19:2,517,866...2,527,786
Ensembl chr19:3,468,094...3,474,038 		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 chr16:23,893,617...23,906,552
Ensembl chr16:31,425,412...31,442,494 		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:28492532 More... NCBI chr16:23,984,260...24,019,579 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 chr17:76,436,264...76,439,492
Ensembl chr17:82,133,217...82,143,623 		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 6:154,581,148...155,018,706 JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:11,259,222...11,282,289
Ensembl chr  X:18,624,687...18,657,315 		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 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		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 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		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 chr11:17,143,024...17,263,920
Ensembl chr11:16,828,966...16,949,856 		JBrowse link
Ohdo syndrome, SBBYS variant 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 chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975 		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 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		JBrowse link
G UBE3B ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:107,054,219...107,113,444
Ensembl chr12:110,455,011...110,506,216 		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 chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		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 | ClinVar Annotator: match by term: Omodysplasia generalized form OMIM
ClinVar		 PMID:19481194 PMID:25741868 PMID:28492532 NCBI chr13:74,408,999...75,588,065
Ensembl chr13:93,874,849...94,739,894 		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:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:30455931 More... NCBI chr17:12,839,362...12,843,803 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 Ensembl chr10:134,187,115...134,214,693 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 chr10:23,356,165...23,359,579 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 chr 3:174,067,964...174,251,913
Ensembl chr 3:182,247,335...182,429,619 		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 activity:pleural fluid:
protein:increased activity:serum:
protein:increased expression:serum:		 RGD PMID:1689629 PMID:1818842 PMID:18357489 PMID:21860532 RGD:152995280 RGD:152995288 RGD:152995292 RGD:152998934 NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868 		JBrowse link
G ADA2 adenosine deaminase 2 treatment ISO RGD PMID:8656037 RGD:152995258 NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473 NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:19159432 RGD:4145106 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312 		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 chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379 		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:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G IL1B interleukin 1 beta ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839 		JBrowse link
G IL27 interleukin 27 exacerbates ISO associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
protein:increased expression:alveolar system (human)		 RGD PMID:23962500 PMID:25753767 PMID:28844060 PMID:31819557 RGD:126790505 RGD:126790517 RGD:126790523 RGD:126790549
G IL33 interleukin 33 ISO protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711 		JBrowse link
G TNC tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299 		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 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073 		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 subfamily B member 1 treatment ISO DNA:SNP: :2677G>A (human) RGD PMID:26067842 RGD:11098541 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238 		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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868 		JBrowse link
G ADA2 adenosine deaminase 2 ISO protein:increased activity:sputum: RGD PMID:19460251 RGD:152995271 NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885 		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 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase susceptibility ISO DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) RGD PMID:18174194 RGD:4890411 NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016 		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 8:126,688,608...127,080,662
Ensembl chr 8:129,418,796...130,021,261 		JBrowse link
G ATF3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 1:188,176,728...188,188,842
Ensembl chr 1:193,036,793...193,049,150 		JBrowse link
G C3 complement C3 ISO RGD PMID:19472039 RGD:5129500 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		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 chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-2518A>G (human)		 CTD
RGD		 PMID:16352737 PMID:18940815 PMID:20111728 RGD:4891439 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		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 chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 disease_progression ISO RGD PMID:11438742 RGD:734715 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:decreased expression:blood, T cell (human) RGD PMID:16379602 RGD:4892094 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379 		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 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966 		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 chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		JBrowse link
G CD1D CD1d molecule susceptibility ISO DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) RGD PMID:30972222 RGD:127345096 NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173 		JBrowse link
G CD209 CD209 molecule susceptibility ISO associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)		 RGD
CTD		 PMID:16379498 PMID:19126442 PMID:24874302 RGD:39938981 RGD:39939062 NCBI chr19:7,042,033...7,047,350 JBrowse link
G CD274 CD274 molecule ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) susceptibility ISO DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865 		JBrowse link
G CD86 CD86 molecule ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CRP C-reactive protein severity ISO associated with HIV Infections RGD PMID:21197091 PMID:21219690 RGD:5131284 RGD:5131287 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 susceptibility ISO mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr 4:50,357,643...50,359,822
Ensembl chr 4:56,189,961...56,192,402 		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 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701 		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 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 4:49,806,505...49,827,961
Ensembl chr 4:55,641,014...55,660,568 		JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO associated with GSTT1 null deletion; DNA:deletion: : RGD PMID:20297661 RGD:4140932 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chr 5:152,486,125...152,514,004
Ensembl chr 5:159,108,915...159,131,007 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:32369456 RGD:39939073 NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352 		JBrowse link
G IL13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548 		JBrowse link
G IL15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:9176116 RGD:4142835 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta severity
susceptibility		 ISO protein:increased expression:lung
protein:increased expression:bronchioalveolar lavage fluid (human)
DNA:polymorphism: :3953T>C (human)		 RGD PMID:10543265 PMID:10631206 PMID:16634865 RGD:4143179 RGD:4143180 RGD:5147843 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO RGD PMID:28128217 RGD:39938965
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 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839 		JBrowse link
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 chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617 		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
G IL27RA interleukin 27 receptor subunit alpha ISO RGD PMID:15749890 RGD:5128486 Ensembl chr19:14,323,618...14,343,627 JBrowse link
G IL32 interleukin 32 treatment ISO RGD PMID:31378983 RGD:150340743 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929 		JBrowse link
G IL33 interleukin 33 ISO RGD PMID:28128217 RGD:39938965 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624 		JBrowse link
G IL4 interleukin 4 severity ISO RGD PMID:20832364 RGD:5128550 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581 		JBrowse link
G IL4R interleukin 4 receptor ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 Ensembl chr16:27,642,702...27,737,445 JBrowse link
G IL6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IL6R interleukin 6 receptor ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089 		JBrowse link
G IRF1 interferon regulatory factor 1 ISO RGD PMID:11083808 RGD:5128719 NCBI chr 5:127,903,887...127,913,843
Ensembl chr 5:134,067,441...134,075,035 		JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chr 3:52,754,664...52,774,867
Ensembl chr 3:53,980,668...53,998,038 		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 1:58,042,794...58,045,536 JBrowse link
G LCN2 lipocalin 2 disease_progression
exacerbates		 ISO RGD PMID:19050270 PMID:30534124 RGD:126779558 RGD:126779565 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain disease_progression
susceptibility		 ISO DNA:polymorphisms (human)
DNA:polymorphism: :HLA-DQB1*3:03(human)
DNA:polymorphism:cds:HLA-DQB1*0201(human)		 RGD PMID:19230186 PMID:24024195 PMID:28612994 RGD:36049753 RGD:36049765 RGD:5147614 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G LOC100974886 uncharacterized LOC100974886 disease_progression ISO RGD PMID:20454613 RGD:5135037 NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555 		JBrowse link
G LOC100978434 C-type lectin domain family 4 member M susceptibility ISO DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human) RGD PMID:17224292 PMID:19770268 PMID:24874302 RGD:39938981 RGD:39938983 RGD:39938987 NCBI chr19:7,062,961...7,069,381 JBrowse link
G LOC100986914 cytochrome b-245 light chain no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719 		JBrowse link
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain ISO RGD PMID:18652916 RGD:5144001 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387 		JBrowse link
G LOC103783265 pulmonary surfactant-associated 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 chr10:76,571,312...76,575,820 JBrowse link
G LTA lymphotoxin alpha susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375 		JBrowse link
G MARCO macrophage receptor with collagenous structure susceptibility ISO DNA:SNP: :rs12998782(human)
DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)		 RGD PMID:23617307 PMID:27853145 PMID:28693442 RGD:41412192 RGD:41412194 RGD:41412195 NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385 		JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432 		JBrowse link
G MIF macrophage migration inhibitory factor susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16982845 RGD:5130746 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO RGD PMID:20297661 RGD:4140932 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chr14:16,155,331...16,158,588 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 chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093 		JBrowse link
G PDCD1 programmed cell death 1 treatment ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr12:130,849,353...130,858,776 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 9:5,313,071...5,391,676
Ensembl chr 9:5,514,449...5,575,688 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chr19:40,588,100...40,616,479
Ensembl chr19:49,197,341...49,222,561
Ensembl chr19:49,197,341...49,222,561 		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 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830 		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 chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750 		JBrowse link
G TLR1 toll like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chr 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO DNA:polymorphism:intron (human)
mRNA, protein:increased expression:blood, T cell
DNA:polymorphisms: :multiple (human)
DNA:SNP: :rs1816702 (human)		 RGD PMID:19552525 PMID:19723394 PMID:20113509 PMID:20298136 RGD:4145304 RGD:4145320 RGD:4145323 RGD:4145355 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331 		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 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711 		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 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 disease_progression ISO RGD PMID:29844416 RGD:126925977 NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091 		JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs:promoter, 3' UTR (human)
DNA:SNP (human)
DNA:SNPs (human)
DNA:SNPs:5' UTR (human)		 RGD PMID:15295697 PMID:17236578 PMID:18231846 PMID:18397302 PMID:20231985 RGD:4889830 RGD:4889842 RGD:4889845 RGD:4889849 RGD:4889853 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192 		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 chr2B:102,194,286...102,401,175
Ensembl chr2B:220,668,957...220,873,566 		JBrowse link
G ABCA8 ATP binding cassette subfamily A member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr17:62,803,735...62,892,397
Ensembl chr17:68,192,993...68,281,666 		JBrowse link
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr2B:106,467,345...106,476,614
Ensembl chr2B:225,058,771...225,067,626 		JBrowse link
G ABCB8 ATP binding cassette subfamily B member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr 7:142,614,508...142,634,600
Ensembl chr 7:154,768,766...154,787,318 		JBrowse link
G ABCC10 ATP binding cassette subfamily C member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr 6:43,019,469...43,042,441
Ensembl chr 6:44,311,237...44,333,610 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22304828 NCBI chr  X:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756 		JBrowse link
G CCNE1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19385967 NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295 		JBrowse link
G CD274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22396772 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402 		JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:4,867,636...4,947,401
Ensembl chr 1:6,125,525...6,191,991 		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 chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387 		JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8400267 NCBI chr 1:132,043,097...132,049,366
Ensembl chr 1:135,864,807...135,870,145 		JBrowse link
G CST3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425 		JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr21:30,030,359...30,032,899 JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34019859 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G CTSL cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303 		JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: therapeutic CTD PMID:22607768 NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231 		JBrowse link
G CXCL13 C-X-C motif chemokine ligand 13 ISO CTD Direct Evidence: therapeutic CTD PMID:22607768 NCBI chr 4:46,583,759...46,589,865
Ensembl chr 4:52,428,702...52,434,803 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 ISO CTD Direct Evidence: therapeutic CTD PMID:22607768 NCBI chr 4:50,192,665...50,195,642
Ensembl chr 4:56,024,848...56,027,989 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28112739 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21554491 NCBI chr19:3,000,608...3,009,918
Ensembl chr19:3,950,772...3,960,172 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20079691 PMID:21638049 PMID:26124351 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21638049 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062074 NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146280 PMID:26124351 NCBI chr13:9,584,850...9,779,542 JBrowse link
G HCRT hypocretin neuropeptide precursor ISO associated with nicotine dependence;protein:decreased expression :blood plasma (human) RGD PMID:30117237 RGD:401960073 NCBI chr17:15,130,581...15,132,024
Ensembl chr17:15,353,203...15,354,594 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27816970 NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G ITPA inosine triphosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23029095 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LOC100969764 sulfotransferase 1A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30120701
G LOC100981146 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22904298 NCBI chr  X:933,459...957,950 JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20131314 NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25596746 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513 		JBrowse link
G PGR progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr11:95,997,677...96,098,866 JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20078871 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706 		JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:189,925,706...190,120,232
Ensembl chr 1:194,780,068...194,887,798 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752 		JBrowse link
G TOP1 DNA topoisomerase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:30132517 NCBI chr20:37,368,606...37,464,649
Ensembl chr20:38,468,452...38,562,652 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20079691 PMID:22204715 PMID:30132517 NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207 		JBrowse link
G VEGFC vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26124351 NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301 		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:25741868 PMID:31256877 NCBI chr12:110,763,319...110,790,364
Ensembl chr12:114,144,664...114,173,127 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:28492532 NCBI chr 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975 		JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:35005812 NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028 		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 chr16:48,687,324...48,734,883
Ensembl chr16:68,086,620...68,127,953 		JBrowse link
G RET ret proto-oncogene ISO DNA:SNP:exon 7:rs1800860 (human) RGD PMID:18820179 RGD:155641253 NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331 		JBrowse link
G WNT9B Wnt family member 9B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:34145744 NCBI chr17:10,616,957...10,651,954 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 Ensembl chr16:27,642,702...27,737,445 JBrowse link
Roifman-Chitayat Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic OMIM
ClinVar		 PMID:19863561 PMID:29180244 NCBI chr15:19,316,854...19,328,425 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 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633 		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 chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261 		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 chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432 		JBrowse link
G CEP152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233 		JBrowse link
G PCNT pericentrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127 NCBI chr21:32,665,361...32,741,592
Ensembl chr21:45,914,665...46,042,990 		JBrowse link
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 chr2A:46,732,683...46,740,589
Ensembl chr2A:47,663,304...47,671,463 		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 chr2A:46,696,543...46,732,625
Ensembl chr2A:47,627,376...47,663,272 		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:25741909 More... NCBI chr 9:101,815,368...101,826,464
Ensembl chr 9:130,464,487...130,475,719 		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 1:121,781,067...121,793,266
Ensembl chr 1:113,884,899...113,888,690 		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 chr 3:52,016,372...52,096,073
Ensembl chr 3:53,245,162...53,324,579 		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 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846 		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 chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		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 chr17:7,919,803...7,947,787
Ensembl chr17:7,910,644...7,933,115 		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 chr17:7,891,617...7,921,183
Ensembl chr17:7,878,102...7,887,932 		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 PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr16:3,243,435...3,248,815 JBrowse link
Stolerman neurodevelopmental syndrome 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 chr17:7,878,783...7,889,372
Ensembl chr17:7,866,973...7,874,937 		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:137,524,106...138,015,114
Ensembl chr  X:147,951,022...148,436,935 		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 1:5,549,742...6,532,568
Ensembl chr 1:6,824,687...7,781,265 		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:45,746,228...45,897,250
Ensembl chr  X:53,855,404...54,005,366 		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 1:944,428...1,029,695
Ensembl chr 1:2,091,620...2,174,080 		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 OMIM
ClinVar		 PMID:12213964 PMID:25741868 PMID:25935485 PMID:29235861 PMID:32627184 More... NCBI chr12:66,122,212...66,172,450
Ensembl chr12:68,942,053...68,955,649 		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...
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 6:31,612,924...31,619,732
Ensembl chr 6:32,499,540...32,506,382 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 More... NCBI chr 6:31,619,746...31,630,463
Ensembl chr 6:32,506,468...32,516,989 		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 5:19,794,151...19,892,000
Ensembl chr 5:19,939,324...20,036,558 		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 chr 7:133,438,436...133,580,423
Ensembl chr 7:145,948,154...146,050,512 		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 5:19,794,151...19,892,000
Ensembl chr 5:19,939,324...20,036,558 		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 6:31,619,746...31,630,463
Ensembl chr 6:32,506,468...32,516,989 		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 8:112,079,147...112,339,567 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 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641 		JBrowse link
G BTNL2 butyrophilin like 2 no_association
susceptibility		 ISO DNA:SNPs,haplotypes: :
DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human)		 RGD PMID:17347014 PMID:20176143 RGD:9685035 RGD:9685036 NCBI chr 6:32,067,223...32,126,032 JBrowse link
G CBS cystathionine beta-synthase severity ISO protein:increased expression:macrophages (mouse) RGD PMID:31992699 RGD:40903052 NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		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 chr19:7,042,033...7,047,350 JBrowse link
G CD274 CD274 molecule ISO mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402 		JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CD8A CD8 subunit alpha susceptibility ISO mRNA:decreased expression:blood (human)
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human)		 RGD PMID:26725873 PMID:27553407 RGD:124715445 RGD:124715450 NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO mRNA:increased expression:lung, spleen (mouse) RGD PMID:28558034 RGD:40903038 NCBI chr20:46,533,163...46,535,282 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 chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485 		JBrowse link
G CISH cytokine inducible SH2 containing protein susceptibility ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to OMIM
ClinVar		 PMID:20484391 NCBI chr 3:50,531,870...50,537,319
Ensembl chr 3:51,769,194...51,774,548 		JBrowse link
G CORO1A coronin 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 Ensembl chr16:30,550,383...30,556,196 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 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 treatment ISO associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)
DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human)		 RGD PMID:28389387 PMID:30239753 RGD:41410886 RGD:41412160 NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672 		JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 treatment ISO DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) RGD PMID:27393733 RGD:124713542 NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065 		JBrowse link
G EREG epiregulin susceptibility ISO DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chr 4:49,806,505...49,827,961
Ensembl chr 4:55,641,014...55,660,568 		JBrowse link
G HAS1 hyaluronan synthase 1 ISO RGD PMID:19876387 RGD:9588638 NCBI chr19:48,657,165...48,668,130
Ensembl chr19:57,537,049...57,547,804 		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 chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		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 OMIM
ClinVar		 PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 More... NCBI chr 6:134,958,270...134,980,560
Ensembl chr 6:139,045,821...139,068,053 		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 chr19:17,536,709...17,547,665
Ensembl chr19:18,513,585...18,541,383 		JBrowse link
G IL15 interleukin 15 ISO mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622 		JBrowse link
G IL22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chr12:65,757,069...65,762,418
Ensembl chr12:68,542,076...68,547,421 		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
G IL33 interleukin 33 ISO associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624 		JBrowse link
G IRAK3 interleukin 1 receptor associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chr12:22,661,613...22,721,203
Ensembl chr12:23,168,346...23,227,148 		JBrowse link
G IRGM immunity related GTPase M ISO OMIM NCBI chr 5:146,274,097...146,329,979
Ensembl chr 5:152,278,581...152,308,182 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 treatment ISO RGD PMID:23922903 RGD:39128143 NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05 RGD PMID:19030725 RGD:36049809 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G LOC100982859 class I histocompatibility antigen, Gogo-B*0101 alpha chain susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41 RGD PMID:19030725 RGD:36049809 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067 		JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr 3:50,542,547...50,574,817
Ensembl chr 3:51,779,912...51,812,124 		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 chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085 		JBrowse link
G NRG1 neuregulin 1 susceptibility ISO DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977 		JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:27865385 RGD:41412174 NCBI chr12:130,849,353...130,858,776 JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:30514491 RGD:38599199 NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:29892302 RGD:127229926 NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821 		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 chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941 		JBrowse link
G SP110 SP110 nuclear body protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar
OMIM		 PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More... NCBI chr2B:117,417,230...117,472,246
Ensembl chr2B:236,221,833...236,275,562 		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 PMID:25741868 PMID:28492532 NCBI chr2B:117,477,923...117,565,367
Ensembl chr2B:236,279,460...236,366,314 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO RGD PMID:29791904 RGD:39128196 NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846 		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 chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309 		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 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366 		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 PMID:25741868 PMID:28492532 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331 		JBrowse link
G TLR4 toll like receptor 4 ISO RGD PMID:12218133 RGD:4144821 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711 		JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chr 4:33,153,151...33,174,053
Ensembl chr 4:39,009,103...39,011,490 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		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 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822 		JBrowse link
G VDR vitamin D receptor susceptibility ISO associated with HIV Infections;DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192 		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 chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		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 ClinVar
OMIM		 PMID:1189319 PMID:9536098 PMID:16199547 PMID:16341802 PMID:17576681 More... NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		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 chr 3:52,233,271...52,342,627
Ensembl chr 3:53,491,822...53,572,393 		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 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307 		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 chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117 		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 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984 		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 susceptibility ISO ClinVar Annotator: match by term: Tumor predisposition syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 More... NCBI chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450 		JBrowse link
Turnpenny-Fry Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome ClinVar PMID:25741868 PMID:25741909 PMID:28492532 NCBI chr17:18,538,545...18,543,374
Ensembl chr17:18,815,044...18,817,980 		JBrowse link
G PCGF2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome OMIM
ClinVar		 PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:25741909 More... NCBI chr17:18,523,859...18,539,794
Ensembl chr17:18,798,917...18,814,838 		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:16199547 PMID:20560210 PMID:25145936 PMID:25510506 PMID:25741868 More... NCBI chr10:95,071,571...95,851,896
Ensembl chr10:98,592,019...99,344,132 		JBrowse link
G LOC117978217 leucine-rich repeats and immunoglobulin-like domains protein 2 ISO CTD Direct Evidence: marker/mechanism CTD
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: HPSE2-related condition | ClinVar Annotator: match by term: Urofacial syndrome type 1 OMIM
ClinVar		 PMID:11446407 PMID:16199547 PMID:19669792 PMID:19839856 PMID:20560209 More... NCBI chr10:95,071,571...95,851,896
Ensembl chr10:98,592,019...99,344,132 		JBrowse link
Urofacial Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC117978217 leucine-rich repeats and immunoglobulin-like domains protein 2 ISO ClinVar Annotator: match by term: Urofacial syndrome 2 ClinVar
OMIM		 PMID:23313374 PMID:25741868
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:125,270,340...125,334,961
Ensembl chr  X:135,559,321...135,602,375 		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: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | ClinVar Annotator: match by term: Verheij syndrome OMIM
ClinVar		 PMID:18414213 PMID:24140112 PMID:25741868 PMID:27804958 PMID:28074499 More... NCBI chr 8:140,571,688...140,584,778
Ensembl chr 8:143,583,451...143,597,399 		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 chr 3:48,954,345...49,018,745
Ensembl chr 3:50,035,676...50,097,596 		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 6:154,581,148...155,018,706 JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186 		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:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:45,576,100...45,637,314
Ensembl chr  X:53,697,154...53,745,636 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Pathologic Processes 7433
        Disease Attributes 810
          Acute Disease 0
          Asymptomatic Diseases + 0
          Catastrophic Illness 0
          Chronic Disease + 1
          Convalescence 0
          Critical Illness 6
          Disease Progression + 199
          Disease Resistance 0
          Disease Susceptibility + 176
          Diseases in Twins 0
          Emergencies 0
          Facies + 438
          Iatrogenic Disease + 1
          Late Onset Disorders 0
          Neglected Diseases 0
          Rare Diseases 0
          Recurrence + 43
          Undiagnosed Diseases 0
paths to the root