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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, GTP-GDP dissociation stimulator 1 ISO ClinVar Annotator: match by term: Alfadhel syndrome OMIM
ClinVar		 PMID:32431071 PMID:33875846 NCBI chr 3:138,631,662...138,781,163
Ensembl chr 3:138,631,663...138,780,962 		JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr13:58,538,946...58,551,157
Ensembl chr13:58,538,956...58,551,157 		JBrowse link
G Med13l mediator complex subunit 13-like ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr 5:118,698,363...118,903,503
Ensembl chr 5:118,698,744...118,903,503 		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 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		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 3:127,460,367...127,574,195
Ensembl chr 3:127,463,959...127,574,176 		JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999 		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 3:127,600,656...127,631,148
Ensembl chr 3:127,600,656...127,631,172 		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 3:127,663,337...127,689,972
Ensembl chr 3:127,662,707...127,689,973 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		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 3:127,330,363...127,346,998
Ensembl chr 3:127,330,363...127,346,998 		JBrowse link
G Mir302a microRNA 302a ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,145...127,339,213
Ensembl chr 3:127,339,145...127,339,213 		JBrowse link
G Mir302b microRNA 302b ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,338,877...127,338,950
Ensembl chr 3:127,338,877...127,338,950 		JBrowse link
G Mir302c microRNA 302c ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,012...127,339,079
Ensembl chr 3:127,339,012...127,339,079 		JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,273...127,339,338
Ensembl chr 3:127,339,273...127,339,338 		JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,339,382...127,339,456
Ensembl chr 3:127,339,382...127,339,456 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:25741868 NCBI chr 3:127,426,382...127,429,285
Ensembl chr 3:127,426,784...127,429,280 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IAGP		 ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:10502778 More... NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994 		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 3:127,582,524...127,592,043
Ensembl chr 3:127,583,454...127,625,813 		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 3:127,347,080...127,411,672
Ensembl chr 3:127,347,138...127,411,672 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr 5:142,888,870...142,892,509
Ensembl chr 5:142,888,870...142,892,509 		JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1415343 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 More... NCBI chr 5:142,888,870...142,892,509
Ensembl chr 5:142,888,870...142,892,509 		JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		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, cytoplasmic 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Thoc6 THO complex 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 More... NCBI chr17:23,887,592...23,892,891
Ensembl chr17:23,887,588...23,892,856 		JBrowse link
Boomerang dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia		 OMIM
CTD
ClinVar		 PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816 		JBrowse link
Bovine Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il23a interleukin 23, alpha subunit p19 IMP RGD PMID:16923792 RGD:39457937 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: therapeutic CTD PMID:17387165 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28257692 NCBI chr13:91,071,241...91,072,851
Ensembl chr13:91,071,077...91,073,069 		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 9:122,780,146...122,847,798
Ensembl chr 9:122,780,111...122,847,798 		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 chr18:80,169,523...80,195,284
Ensembl chr18:80,169,526...80,194,697 		JBrowse link
G Atp9b ATPase, class II, type 9B ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,777,356...80,977,291
Ensembl chr18:80,777,356...80,977,275 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,451,174...80,522,959
Ensembl chr18:80,451,174...80,512,910 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,410,621...82,424,902
Ensembl chr18:82,410,505...82,424,902 		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 chr18:80,272,154...80,293,329
Ensembl chr18:80,272,973...80,290,317 		JBrowse link
G Kcng2 potassium voltage-gated channel, subfamily G, member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,337,731...80,407,469
Ensembl chr18:80,337,761...80,407,469 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762 		JBrowse link
G Nfatc1 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,090,045...80,162,855
Ensembl chr18:80,090,105...80,162,854 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,235,479...80,243,873
Ensembl chr18:80,235,480...80,243,873 		JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,298,458...80,335,940
Ensembl chr18:80,296,507...80,335,940 		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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter:		 OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:80,250,041...80,269,066
Ensembl chr18:80,249,980...80,255,956
Ensembl chr18:80,249,980...80,255,956 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,611,718...82,711,044
Ensembl chr18:82,611,718...82,711,008 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,925,324...83,023,439
Ensembl chr18:82,928,788...83,023,439 		JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 antigen ISO ClinVar Annotator: match by term: C syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 NCBI chr16:45,856,015...45,940,611
Ensembl chr16:45,856,020...45,940,614 		JBrowse link
C6 Deficiency, Subtotal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C6 complement component 6 ISO ClinVar Annotator: match by term: COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL ClinVar PMID:7535801 PMID:8871666 PMID:16199547 PMID:17257682 PMID:24378253 More... NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449 		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 dependent, catalytic, alpha ISO ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 OMIM
ClinVar		 PMID:25741868 PMID:33058759 NCBI chr 8:84,699,607...84,723,073
Ensembl chr 8:84,699,622...84,723,072 		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 dependent, catalytic, beta ISO ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:33058759 NCBI chr 3:146,435,334...146,518,691
Ensembl chr 3:146,435,329...146,518,745 		JBrowse link
cardiofaciocutaneous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO
IAGP
IMP		 DNA:mutations:cds:multiple(human)
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
OMIM:115150 | OMIM:615278 | OMIM:615279 | OMIM:615280
DNA:mutation:cds:p.Q241R(mouse)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:2500657 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 More... RGD:1600471, RGD:11352608, RGD:11567236 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO DNA:missense mutations:CDS:p.G60R, p.D153V (human)
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8234268 PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 More... RGD:1600471 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
OMIM:115150 | OMIM:615278 | OMIM:615279 | OMIM:615280		 CTD
ClinVar
MouseDO		 PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome		 CTD
ClinVar		 PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 More... NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CFC syndrome		 CTD
ClinVar		 PMID:17703371 PMID:25741868 PMID:28492532 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:28492532 NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 9:64,086,066...64,089,972
Ensembl chr 9:64,086,556...64,090,414 		JBrowse link
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 OMIM
ClinVar		 PMID:2102266 PMID:2500657 PMID:2851224 PMID:3265306 PMID:4386970 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		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 chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 OMIM
ClinVar		 PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder OMIM
ClinVar		 PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16199547 More... NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913 		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
DNA:missense mutation:CDS:p.P128Q (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 More... RGD:155791562 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:32307552 PMID:35451546 NCBI chr 2:118,848,260...118,859,887
Ensembl chr 2:118,848,260...118,859,874 		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 90 kDa subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome		 OMIM
CTD
ClinVar		 PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324 		JBrowse link
CHOPS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 AF4/FMR2 family, member 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28492532 More... NCBI chr11:53,240,807...53,312,657
Ensembl chr11:53,241,660...53,312,657 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome		 CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583 		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, sub-family B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29808285 NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		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 chr 1:84,698,910...84,818,285
Ensembl chr 1:84,698,910...84,818,237 		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 (K)-specific demethylase 1A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies		 OMIM
CTD
ClinVar		 PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More... NCBI chr 4:136,277,844...136,330,127
Ensembl chr 4:136,277,851...136,330,034 		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 IAGP
ISO		 OMIM:135900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 MouseDO
CTD
ClinVar		 PMID:22426308 PMID:25741868 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar
RGD		 PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 More... RGD:11526783 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Kdm8 lysine (K)-specific demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 7:125,043,788...125,062,823
Ensembl chr 7:125,043,848...125,061,441 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability		 CTD
ClinVar		 PMID:18414213 PMID:22426308 PMID:28512736 NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome		 CTD
ClinVar		 PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 More... NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22426308 More... NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		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 chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843 		JBrowse link
G Sox11 SRY (sex determining region Y)-box 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:25741868 PMID:26543203 NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		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 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Arid1b AT-rich interaction domain 1B IAGP
ISO		 OMIM:135900
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		 MouseDO
ClinVar
OMIM		 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 More... NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr19:5,946,544...5,962,899
Ensembl chr19:5,946,544...5,963,038 		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 chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ClinVar PMID:9536098 PMID:15756273 PMID:17576681 PMID:18414213 PMID:18437052 More... NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Sox4 SRY (sex determining region Y)-box 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696 		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 (sex determining region Y)-box 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 OMIM
ClinVar		 PMID:25741868 PMID:30661772 PMID:35232796 PMID:35887114 NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696 		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 chr15:99,600,175...99,611,872
Ensembl chr15:99,600,010...99,611,872 		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 chr 7:15,704,596...15,785,047
Ensembl chr 7:15,704,597...15,781,846 		JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765 		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 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Hr lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Derl3 Der1-like domain family, member 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr10:75,729,232...75,731,775
Ensembl chr10:75,729,247...75,731,775 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr10:75,759,056...75,768,336
Ensembl chr10:75,759,056...75,772,330 		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 chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		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 chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843 		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 chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873 		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 chr19:5,946,544...5,962,899
Ensembl chr19:5,946,544...5,963,038 		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 chr10:128,294,823...128,326,460
Ensembl chr10:128,295,117...128,326,351 		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 (sex determining region Y)-box 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 chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		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 chr19:4,264,479...4,273,548
Ensembl chr19:4,264,292...4,273,544 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cold-induced sweating syndrome		 CTD
ClinVar		 PMID:20186812 PMID:25741868 NCBI chr 8:70,945,798...70,956,728
Ensembl chr 8:70,945,808...70,956,731 		JBrowse link
G Klhl7 kelch-like 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:24,305,563...24,368,363
Ensembl chr 5:24,305,603...24,365,790 		JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar		 PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr 8:70,945,798...70,956,728
Ensembl chr 8:70,945,808...70,956,731 		JBrowse link
G Klhl7 kelch-like 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 5:24,305,563...24,368,363
Ensembl chr 5:24,305,603...24,365,790 		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 chr19:4,264,479...4,273,548
Ensembl chr19:4,264,292...4,273,544 		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 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 5:24,305,563...24,368,363
Ensembl chr 5:24,305,603...24,365,790 		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-Coenzyme A binding domain containing 6 ISO ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 ClinVar PMID:25741868 NCBI chr 1:155,433,845...155,564,120
Ensembl chr 1:155,433,866...155,567,076 		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 chr16:65,336,014...65,359,648
Ensembl chr16:65,336,014...65,359,612 		JBrowse link
G Hesx1 homeobox gene expressed in ES cells 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 chr14:26,716,322...26,724,286
Ensembl chr14:26,716,373...26,724,286 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:28492532 NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		JBrowse link
G Lhx4 LIM homeobox protein 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 1:155,573,777...155,627,481
Ensembl chr 1:155,573,777...155,627,430 		JBrowse link
G Pou1f1 POU domain, class 1, transcription factor 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 More... NCBI chr16:65,317,398...65,331,904
Ensembl chr16:65,317,397...65,331,183 		JBrowse link
CONGENITAL DISORDER OF DEGLYCOSYLATION 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 OMIM
ClinVar		 PMID:25741868 PMID:35045343 NCBI chr 9:57,037,953...57,049,497
Ensembl chr 9:57,037,974...57,050,006 		JBrowse link
G Neil1 nei endonuclease VIII-like 1 (E. coli) ISO ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 ClinVar PMID:25741868 PMID:35045343 NCBI chr 9:57,050,072...57,055,973
Ensembl chr 9:57,050,084...57,055,589 		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
IAGP		 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
CTD Direct Evidence: marker/mechanism
DNA:Mutations:cds :
DNA:mutations:cds:
DNA:mutations: :
OMIM:617360		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 More... RGD:155631312, RGD:155631311, RGD:155641229, RGD:11560583 NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682 		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 chr14:117,162,332...118,216,941
Ensembl chr14:117,162,727...118,213,956 		JBrowse link
congenital myopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:26733463 PMID:30403323 PMID:31260566 NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523 		JBrowse link
Critical Illness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A treatment ISO DNA:SNP:exon:3435C>T(human) RGD PMID:29979333 RGD:39456099 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		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 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16670151 NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		JBrowse link
G Kdm1a lysine (K)-specific demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22493729 NCBI chr 4:136,277,844...136,330,127
Ensembl chr 4:136,277,851...136,330,034 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32558485 PMID:32998156 NCBI chr 9:123,523,469...123,546,690
Ensembl chr 9:123,523,481...123,546,762 		JBrowse link
G Ren1 renin 1 structural exacerbates ISO protein:increased activity:blood plasma (human) RGD PMID:30653055 RGD:125097479 NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063 		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 chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 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 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		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 special AT-rich sequence binding protein 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 chr17:52,043,215...52,140,318
Ensembl chr17:52,043,215...52,140,318 		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 chr13:44,881,817...45,075,119
Ensembl chr13:44,882,950...45,075,119 		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 ribonucleoprotein auxiliary factor (U2AF) 2 ISO ClinVar Annotator: match by term: Developmental delay, dysmorphic facies, and brain anomalies ClinVar
OMIM		 PMID:28492532 PMID:34112922 PMID:36747105 PMID:37092751 NCBI chr 7:5,063,884...5,082,937
Ensembl chr 7:5,065,142...5,082,937 		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 Morc2a microrchidia 2A 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 chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477 		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:36,390,416...36,414,399
Ensembl chr  X:36,390,448...36,414,399 		JBrowse link
Diets-Jongmans Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm3b KDM3B lysine (K)-specific 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 chr18:34,910,061...34,972,423
Ensembl chr18:34,910,100...34,971,713 		JBrowse link
diphthamide deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph2 DPH2 homolog 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 4:117,745,838...117,749,220
Ensembl chr 4:117,745,840...117,749,229 		JBrowse link
Disease Progression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2200002D01Rik RIKEN cDNA 2200002D01 gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:35142956 NCBI chr 7:28,946,946...28,947,892
Ensembl chr 7:28,945,986...28,947,891 		JBrowse link
G Abca13 ATP-binding cassette, sub-family A member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr11:9,141,942...9,634,871
Ensembl chr11:9,141,942...9,634,259 		JBrowse link
G Abca7 ATP-binding cassette, sub-family A member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr10:79,832,328...79,851,406
Ensembl chr10:79,832,328...79,851,406 		JBrowse link
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20627363 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		JBrowse link
G Abcc1 ATP-binding cassette, sub-family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25078270 NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601 		JBrowse link
G Abcc6 ATP-binding cassette, sub-family C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726 		JBrowse link
G Abcd4 ATP-binding cassette, sub-family D member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr12:84,648,634...84,664,259
Ensembl chr12:84,648,238...84,664,187 		JBrowse link
G Abcf1 ATP-binding cassette, sub-family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr17:36,267,711...36,280,642
Ensembl chr17:36,267,711...36,280,653 		JBrowse link
G Abcf2 ATP-binding cassette, sub-family F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22294766 NCBI chr 5:24,770,339...24,782,465
Ensembl chr 5:24,770,343...24,782,465 		JBrowse link
G Abt1 activator of basal transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr13:23,602,531...23,608,036
Ensembl chr13:23,602,531...23,608,036 		JBrowse link
G Acad8 acyl-Coenzyme A dehydrogenase family, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 9:26,885,434...26,910,872
Ensembl chr 9:26,885,431...26,910,862 		JBrowse link
G AI480526 expressed sequence AI480526 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34561789 NCBI chr 5:123,271,786...123,279,151
Ensembl chr 5:123,271,786...123,279,729 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase family 7, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr18:56,657,794...56,706,112
Ensembl chr18:56,642,759...56,706,023 		JBrowse link
G Amfr autocrine motility factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9241080 NCBI chr 8:94,698,216...94,739,301
Ensembl chr 8:94,698,216...94,739,470 		JBrowse link
G Amotl1 angiomotin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34480788 NCBI chr 9:14,453,262...14,574,408
Ensembl chr 9:14,453,262...14,556,352 		JBrowse link
G Apex1 apurinic/apyrimidinic endonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr14:51,162,406...51,164,645
Ensembl chr14:51,162,425...51,164,596 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:24473795 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:91,095,460...91,107,716
Ensembl chr 2:91,095,319...91,107,276 		JBrowse link
G Arg2 arginase type II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23424623 NCBI chr12:79,177,562...79,203,075
Ensembl chr12:79,177,551...79,203,075 		JBrowse link
G Atf2 activating transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23591579 NCBI chr 2:73,646,853...73,723,094
Ensembl chr 2:73,646,853...73,722,983 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:12216079 PMID:12509969 PMID:19296535 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 PMID:21750559 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Bgn biglycan ISO CTD Direct Evidence: marker/mechanism CTD PMID:35234341 NCBI chr  X:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		JBrowse link
G Bmi1 Bmi1 polycomb ring finger oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24571310 NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440 		JBrowse link
G Bop1 block of proliferation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr15:76,337,188...76,361,449
Ensembl chr15:76,337,189...76,361,477 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:10673208 PMID:11283936 PMID:16081686 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29103775 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19385967 NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35072892 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:85,428,487...85,445,459
Ensembl chr 6:85,428,496...85,445,457 		JBrowse link
G Cd274 CD274 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:27692344 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Cd44 CD44 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010 		JBrowse link
G Cd74 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) ISO CTD Direct Evidence: marker/mechanism CTD PMID:34797429 NCBI chr18:60,936,921...60,945,724
Ensembl chr18:60,936,920...60,945,724 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cdh2 cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23876460 NCBI chr18:16,721,934...16,942,303
Ensembl chr18:16,721,934...16,942,303 		JBrowse link
G Cdkl2 cyclin dependent kinase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25333262 NCBI chr 5:92,153,933...92,198,479
Ensembl chr 5:92,153,933...92,191,742 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34973135 NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338 		JBrowse link
G Cga glycoprotein hormones, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 4:34,893,779...34,907,374
Ensembl chr 4:34,893,779...34,907,370 		JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Clcn3 chloride channel, voltage-sensitive 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 8:61,363,423...61,436,351
Ensembl chr 8:61,363,423...61,436,334 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:126,170,571...126,184,991
Ensembl chr 7:126,170,379...126,184,989 		JBrowse link
G Cnpy2 canopy FGF signaling regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr10:128,157,972...128,163,056
Ensembl chr10:128,158,328...128,163,422 		JBrowse link
G Col7a1 collagen, type VII, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:124,935,413...124,974,866
Ensembl chr 6:124,935,376...124,942,501 		JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr15:76,480,008...76,491,861
Ensembl chr15:76,480,003...76,491,791 		JBrowse link
G Crybg1 crystallin beta-gamma domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr10:43,826,303...44,024,824
Ensembl chr10:43,826,632...44,024,849 		JBrowse link
G Csta2 cystatin A family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20461718 PMID:22287159 NCBI chr16:36,041,932...36,077,813
Ensembl chr16:36,041,838...36,077,810 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738331 PMID:29106415 PMID:34019859 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Ctsb cathepsin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372 		JBrowse link
G Ctsc cathepsin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364592 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Ddb1 damage specific DNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:10,582,961...10,607,186
Ensembl chr19:10,582,691...10,607,183 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197 		JBrowse link
G E2f2 E2F transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 4:135,899,585...135,923,368
Ensembl chr 4:135,899,705...135,923,368 		JBrowse link
G E2f4 E2F transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 8:106,024,295...106,032,002
Ensembl chr 8:106,024,295...106,032,002 		JBrowse link
G E2f5 E2F transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 3:14,638,370...14,671,369
Ensembl chr 3:14,643,701...14,671,369 		JBrowse link
G E2f7 E2F transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr10:110,580,799...110,623,245
Ensembl chr10:110,581,300...110,623,245 		JBrowse link
G E2f8 E2F transcription factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29754146 NCBI chr 7:48,516,177...48,531,821
Ensembl chr 7:48,516,177...48,531,344 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194819 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21794976 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20859196 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Ehd1 EH-domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35616188 NCBI chr19:6,326,926...6,350,126
Ensembl chr19:6,326,755...6,350,126 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26735578 NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838 		JBrowse link
G Epha2 Eph receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21479221 NCBI chr 4:141,028,532...141,056,695
Ensembl chr 4:141,028,551...141,056,695 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10897039 PMID:21638049 PMID:21750559 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21638049 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20104649 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Esrra estrogen related receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chr19:6,888,345...6,899,182
Ensembl chr19:6,888,345...6,899,208 		JBrowse link
G Exosc5 exosome component 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793 		JBrowse link
G Fam168a family with sequence similarity 168, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:100,355,594...100,490,853
Ensembl chr 7:100,355,842...100,490,863 		JBrowse link
G Fam83a family with sequence similarity 83, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:34931434 NCBI chr15:57,847,983...57,874,102
Ensembl chr15:57,848,815...57,874,405 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11594583 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:34390292 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34427968 NCBI chr 6:91,955,809...92,052,986
Ensembl chr 6:91,955,859...92,052,985 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12644816 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Fkbp2 FK506 binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:6,955,105...6,957,832
Ensembl chr19:6,955,109...6,957,869 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146280 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G G3bp1 G3BP stress granule assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106762 NCBI chr11:55,360,521...55,391,722
Ensembl chr11:55,360,511...55,395,664 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29180066 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Hdac3 histone deacetylase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34973135 NCBI chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069 		JBrowse link
G Hdac6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Hikeshi heat shock protein nuclear import factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:89,567,893...89,590,446
Ensembl chr 7:89,566,737...89,590,412 		JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:28,507,971...28,521,693
Ensembl chr 7:28,507,966...28,521,691 		JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34737577 NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449 		JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33614284 NCBI chr 2:74,509,902...74,517,360
Ensembl chr 2:74,509,901...74,517,360 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12082015 PMID:32621833 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Idh3b isocitrate dehydrogenase 3 (NAD+) beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:130,121,229...130,126,371
Ensembl chr 2:130,121,229...130,126,467 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738319 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rap interleukin 1 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738319 NCBI chr16:26,400,259...26,548,878
Ensembl chr16:26,400,454...26,548,867 		JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 8:11,605,762...11,613,251
Ensembl chr 8:11,605,571...11,613,251 		JBrowse link
G Kcnj12 potassium inwardly-rectifying channel, subfamily J, member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34755307 NCBI chr11:60,912,970...60,964,095
Ensembl chr11:60,913,390...60,961,957 		JBrowse link
G Kdm1a lysine (K)-specific demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22493729 NCBI chr 4:136,277,844...136,330,127
Ensembl chr 4:136,277,851...136,330,034 		JBrowse link
G Keap1 kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20124447 NCBI chr 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30654191 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lamc2 laminin, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193 		JBrowse link
G Lat2 linker for activation of T cells family, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32587277 NCBI chr 5:134,628,957...134,648,637
Ensembl chr 5:134,628,876...134,643,879 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35841383 NCBI chr 6:83,011,186...83,029,547
Ensembl chr 6:83,011,154...83,029,543 		JBrowse link
G M6pr mannose-6-phosphate receptor, cation dependent ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:122,285,679...122,294,639
Ensembl chr 6:122,285,679...122,294,639 		JBrowse link
G Malat1 metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA) ISO CTD Direct Evidence: marker/mechanism CTD PMID:26735578 NCBI chr19:5,845,718...5,852,700
Ensembl chr19:5,845,717...5,852,706 		JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO CTD Direct Evidence: marker/mechanism CTD PMID:34797429 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074 		JBrowse link
G Mir100 microRNA 100 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 9:41,442,721...41,442,800
Ensembl chr 9:41,442,721...41,442,800 		JBrowse link
G Mir145a microRNA 145a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965 		JBrowse link
G Mir186 microRNA 186 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr 3:157,249,916...157,249,986
Ensembl chr 3:157,249,916...157,249,986 		JBrowse link
G Mir196a-2 microRNA 196a-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27816459 NCBI chr15:102,881,785...102,881,869
Ensembl chr15:102,881,785...102,881,869 		JBrowse link
G Mir200b microRNA 200b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207 		JBrowse link
G Mir200c microRNA 200c ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr 6:124,695,285...124,695,353
Ensembl chr 6:124,695,285...124,695,353 		JBrowse link
G Mir206 microRNA 206 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27538595 NCBI chr 1:20,749,234...20,749,306
Ensembl chr 1:20,749,234...20,749,306 		JBrowse link
G Mir21a microRNA 21a ISO CTD Direct Evidence: marker/mechanism CTD PMID:27816459 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mir29c microRNA 29c ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 1:194,719,855...194,719,942
Ensembl chr 1:194,719,855...194,719,942 		JBrowse link
G Mir322 microRNA 322 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27538595 NCBI chr  X:52,143,132...52,143,226
Ensembl chr  X:52,143,132...52,143,226 		JBrowse link
G Mir346 microRNA 346 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27777383 NCBI chr14:34,616,566...34,616,663
Ensembl chr14:34,616,566...34,616,663 		JBrowse link
G Mir34b microRNA 34b ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr 9:51,014,862...51,014,945
Ensembl chr 9:51,014,862...51,014,945 		JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30026881 NCBI chr16:77,395,824...77,395,888
Ensembl chr16:77,395,824...77,395,888 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22321834 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mrpl13 mitochondrial ribosomal protein L13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr15:55,397,491...55,420,708
Ensembl chr15:55,397,490...55,421,144 		JBrowse link
G Mrps11 mitochondrial ribosomal protein S11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:78,432,879...78,442,736
Ensembl chr 7:78,432,867...78,442,737 		JBrowse link
G Mrps18b mitochondrial ribosomal protein S18B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:36,221,272...36,227,332
Ensembl chr17:36,221,271...36,227,281 		JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:35396937 NCBI chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352 		JBrowse link
G Myb myeloblastosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883 		JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:22321834 PMID:28191284 PMID:34510316 PMID:34626302 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 8:11,547,506...11,563,287
Ensembl chr 8:11,547,506...11,564,960 		JBrowse link
G Nbas neuroblastoma amplified sequence ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr12:13,319,102...13,687,381
Ensembl chr12:13,319,134...13,633,812 		JBrowse link
G Ncapg non-SMC condensin I complex, subunit G ISO CTD Direct Evidence: marker/mechanism CTD PMID:34480403 NCBI chr 5:45,827,212...45,858,491
Ensembl chr 5:45,827,261...45,857,888 		JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr18:36,875,385...36,877,640
Ensembl chr18:36,875,385...36,877,610 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:63,182,751...63,215,981
Ensembl chr 1:63,182,755...63,215,992 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:4,057,499...4,062,755
Ensembl chr19:4,057,384...4,062,806 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32621833 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:130,112,904...130,121,233
Ensembl chr 2:130,116,350...130,121,233 		JBrowse link
G Nt5e 5' nucleotidase, ecto ISO CTD Direct Evidence: therapeutic CTD PMID:34773529 NCBI chr 9:88,209,662...88,254,142
Ensembl chr 9:88,209,250...88,254,145 		JBrowse link
G Pa2g4 proliferation-associated 2G4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr10:128,393,635...128,401,803
Ensembl chr10:128,393,635...128,401,856 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr  X:158,905,215...158,921,426
Ensembl chr  X:158,905,205...158,921,409 		JBrowse link
G Phb1 prohibitin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:95,557,783...95,571,599
Ensembl chr11:95,557,783...95,571,599 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29106415 NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pin1 peptidyl-prolyl cis/trans isomerase, NIMA-interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32621833 NCBI chr 9:20,563,335...20,575,008
Ensembl chr 9:20,563,391...20,577,880 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr13:112,937,311...113,004,428
Ensembl chr13:112,937,326...113,004,428 		JBrowse link
G Polr3k polymerase (RNA) III (DNA directed) polypeptide K ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:181,506,153...181,512,623
Ensembl chr 2:181,506,130...181,512,623 		JBrowse link
G Ppp2r1a protein phosphatase 2, regulatory subunit A, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:21,165,716...21,186,167
Ensembl chr17:21,165,573...21,186,178 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr19:60,852,504...60,862,976
Ensembl chr19:60,852,489...60,862,994 		JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr  X:154,106,914...154,125,268
Ensembl chr  X:154,106,914...154,123,750 		JBrowse link
G Prep prolyl endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr10:44,943,312...45,038,847
Ensembl chr10:44,943,299...45,043,294 		JBrowse link
G Prkab1 protein kinase, AMP-activated, beta 1 non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:116,151,654...116,162,449
Ensembl chr 5:116,151,645...116,162,567 		JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:10,872,595...10,886,923
Ensembl chr19:10,872,595...10,886,923 		JBrowse link
G Psmd14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr 2:61,542,038...61,630,720
Ensembl chr 2:61,542,038...61,630,720 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729295 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptov1 prostate tumor over expressed gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:44,512,491...44,523,542
Ensembl chr 7:44,512,491...44,519,212 		JBrowse link
G Ptpa protein phosphatase 2 protein activator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:30,306,062...30,337,819
Ensembl chr 2:30,306,051...30,337,818 		JBrowse link
G Ptprf protein tyrosine phosphatase receptor type F ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 4:118,065,410...118,148,602
Ensembl chr 4:118,065,410...118,148,602 		JBrowse link
G Pus1 pseudouridine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 5:110,921,533...110,928,523
Ensembl chr 5:110,921,533...110,928,525 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911 		JBrowse link
G Rab27b RAB27B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:34291859 NCBI chr18:70,112,202...70,274,704
Ensembl chr18:70,112,202...70,274,676 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35331739 NCBI chr15:78,443,369...78,456,983
Ensembl chr15:78,443,367...78,456,983 		JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 8:85,561,540...85,567,361
Ensembl chr 8:85,560,648...85,567,294 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 8:106,494,940...106,560,463
Ensembl chr 8:106,494,940...106,553,982 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22614916 NCBI chr 4:137,391,549...137,457,172
Ensembl chr 4:137,392,037...137,457,172 		JBrowse link
G Rasal2 RAS protein activator like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34826200 NCBI chr 1:156,962,759...157,240,170
Ensembl chr 1:156,962,752...157,240,165 		JBrowse link
G Rchy1 ring finger and CHY zinc finger domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28191284 NCBI chr 5:92,096,701...92,110,988
Ensembl chr 5:92,096,763...92,110,927 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 PMID:34973135 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Rigi RNA sensor RIG-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:20170495 NCBI chr 4:40,203,775...40,239,843
Ensembl chr 4:40,203,773...40,239,828 		JBrowse link
G Rnf168 ring finger protein 168 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34873829 NCBI chr16:32,096,279...32,120,260
Ensembl chr16:32,096,277...32,120,252 		JBrowse link
G Rpl13 ribosomal protein L13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983 		JBrowse link
G Rpl15 ribosomal protein L15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr14:4,198,710...4,201,873
Ensembl chr14:4,198,305...4,201,873 		JBrowse link
G Rpl18 ribosomal protein L18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:45,364,891...45,370,255
Ensembl chr 7:45,364,881...45,370,260 		JBrowse link
G Rps15 ribosomal protein S15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr10:80,128,265...80,129,948
Ensembl chr10:80,128,287...80,129,948 		JBrowse link
G Rps19 ribosomal protein S19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		JBrowse link
G Rps21 ribosomal protein S21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:179,899,172...179,900,237
Ensembl chr 2:179,899,170...179,900,238 		JBrowse link
G Rps26 ribosomal protein S26 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr10:128,460,398...128,462,375
Ensembl chr10:128,460,403...128,462,616 		JBrowse link
G Rps6 ribosomal protein S6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 4:86,772,336...86,775,604
Ensembl chr 4:86,772,897...86,775,649 		JBrowse link
G Rrm1 ribonucleotide reductase M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21496433 NCBI chr 7:102,090,902...102,118,978
Ensembl chr 7:102,090,902...102,118,978 		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 9:106,354,508...106,362,614
Ensembl chr 9:106,353,162...106,362,623 		JBrowse link
G Rxrb retinoid X receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:34,250,786...34,257,377
Ensembl chr17:34,250,786...34,257,373 		JBrowse link
G Serbp1 serpine1 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:67,243,963...67,266,286
Ensembl chr 6:67,215,160...67,274,720 		JBrowse link
G Sik2 salt inducible kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34491613 NCBI chr 9:50,800,944...50,920,432
Ensembl chr 9:50,804,101...50,920,373 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 disease_progression ISO associated with Colorectal Neoplasms RGD PMID:32359697 RGD:151361139 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Snrpb small nuclear ribonucleoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323 		JBrowse link
G Snx27 sorting nexin family member 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36029209 NCBI chr 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023 		JBrowse link
G Snx5 sorting nexin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:144,092,043...144,112,713
Ensembl chr 2:144,092,043...144,112,826 		JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:29434186 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:10673208 PMID:11283936 PMID:16081686 PMID:18930813 PMID:20618948 More... NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Sod3 superoxide dismutase 3, extracellular ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760 		JBrowse link
G Sp1 trans-acting transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35072892 NCBI chr15:102,314,751...102,344,839
Ensembl chr15:102,314,578...102,344,839 		JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr15:82,031,455...82,089,580
Ensembl chr15:82,031,382...82,089,580 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22488367 NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024 		JBrowse link
G Suclg1 succinate-CoA ligase, GDP-forming, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 6:73,225,488...73,253,890
Ensembl chr 6:73,225,365...73,253,894 		JBrowse link
G Sympk symplekin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 7:18,758,321...18,788,542
Ensembl chr 7:18,758,302...18,788,543 		JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr11:83,363,897...83,397,569
Ensembl chr11:83,363,912...83,397,569 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21252717 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tial1 Tia1 cytotoxic granule-associated RNA binding protein-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106762 NCBI chr 7:128,041,496...128,063,450
Ensembl chr 7:128,041,501...128,063,441 		JBrowse link
G Tmem63a transmembrane protein 63a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 1:180,769,899...180,802,671
Ensembl chr 1:180,769,909...180,802,677 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11552987 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584 		JBrowse link
G Top1 topoisomerase (DNA) I ISO CTD Direct Evidence: marker/mechanism CTD PMID:30132517 NCBI chr 2:160,487,901...160,564,684
Ensembl chr 2:160,487,808...160,564,684 		JBrowse link
G Top2a topoisomerase (DNA) II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22204715 PMID:30132517 NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr16:3,857,835...3,895,704
Ensembl chr16:3,857,835...3,895,691 		JBrowse link
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30381462 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Txnip thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 3:96,465,273...96,469,173
Ensembl chr 3:96,465,273...96,469,199 		JBrowse link
G Ubxn1 UBX domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr19:8,848,912...8,853,030
Ensembl chr19:8,848,860...8,853,227 		JBrowse link
G Urm1 ubiquitin related modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 2:29,717,401...29,735,008
Ensembl chr 2:29,710,087...29,735,014 		JBrowse link
G Vcp valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29693262 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		JBrowse link
G Vegfb vascular endothelial growth factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146280 NCBI chr19:6,959,840...6,965,019
Ensembl chr19:6,959,841...6,965,019 		JBrowse link
G Wdr46 WD repeat domain 46 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr17:34,159,608...34,168,669
Ensembl chr17:34,159,634...34,168,671 		JBrowse link
G Xpc xeroderma pigmentosum, complementation group C ISO CTD Direct Evidence: marker/mechanism CTD PMID:27777383 NCBI chr 6:91,466,287...91,492,870
Ensembl chr 6:91,466,287...91,492,870 		JBrowse link
G Yap1 yes-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30703373 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		JBrowse link
G Yeats2 YEATS domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34686948 NCBI chr16:19,959,803...20,051,323
Ensembl chr16:19,959,813...20,051,323 		JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21792014 NCBI chr12:108,758,841...108,786,074
Ensembl chr12:108,758,899...108,786,074 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19839049 NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407 		JBrowse link
G Zfp593 zinc finger protein 593 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21364753 NCBI chr 4:133,970,617...133,972,902
Ensembl chr 4:133,970,600...133,972,903 		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 (granulocyte) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20026017 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16537716 PMID:31569996 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31569996 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G mt-Nd6 NADH dehydrogenase 6, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130021 NCBI chr MT:13,552...14,070
Ensembl chr MT:13,552...14,070 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27444301 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130021 NCBI chr 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742 		JBrowse link
G Tspan12 tetraspanin 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20130021 NCBI chr 6:21,771,390...21,879,557
Ensembl chr 6:21,771,394...21,852,514 		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 chr 7:133,484,928...133,826,859
Ensembl chr 7:133,484,928...133,833,875 		JBrowse link
G Adam8 a disintegrin and metallopeptidase domain 8 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,558,845...139,573,016
Ensembl chr 7:139,558,845...139,572,475 		JBrowse link
G Adgra1 adhesion G protein-coupled receptor A1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,414,014...139,458,004
Ensembl chr 7:139,414,090...139,458,004 		JBrowse link
G Bnip3 BCL2/adenovirus E1B interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248 		JBrowse link
G Caly calcyon neuron-specific vesicular protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,649,793...139,662,485
Ensembl chr 7:139,649,793...139,662,461 		JBrowse link
G Cfap46 cilia and flagella associated protein 46 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,180,830...139,264,701
Ensembl chr 7:139,180,867...139,263,733 		JBrowse link
G Clrn3 clarin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:135,113,185...135,130,383
Ensembl chr 7:135,113,195...135,130,383 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G D7Ertd443e DNA segment, Chr 7, ERATO Doi 443, expressed ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:133,867,509...134,121,888
Ensembl chr 7:133,867,508...134,102,889 		JBrowse link
G Dhx32 DEAH-box helicase 32 (putative) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:133,322,671...133,384,514
Ensembl chr 7:133,322,671...133,384,455 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:134,272,416...134,775,376
Ensembl chr 7:134,272,383...134,775,368 		JBrowse link
G Dpysl4 dihydropyrimidinase-like 4 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,665,917...138,681,711
Ensembl chr 7:138,665,917...138,682,620 		JBrowse link
G Ebf3 early B cell factor 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:136,795,400...136,924,528
Ensembl chr 7:136,795,402...136,916,174 		JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,685,623...139,696,334
Ensembl chr 7:139,685,623...139,696,389 		JBrowse link
G Fank1 fibronectin type 3 and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:133,378,594...133,483,261
Ensembl chr 7:133,378,590...133,483,261 		JBrowse link
G Foxi2 forkhead box I2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:135,012,096...135,015,351
Ensembl chr 7:135,012,037...135,015,351 		JBrowse link
G Frg2f1 FSHD region gene 2 family member 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 4:119,387,505...119,395,966
Ensembl chr 4:119,387,505...119,396,726 		JBrowse link
G Fuom fucose mutarotase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,677,724...139,684,745
Ensembl chr 7:139,676,683...139,682,354 		JBrowse link
G Glrx3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:137,039,302...137,071,360
Ensembl chr 7:137,039,343...137,070,323 		JBrowse link
G Inpp5a inositol polyphosphate-5-phosphatase A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,969,025...139,159,568
Ensembl chr 7:138,969,025...139,159,568 		JBrowse link
G Insyn2a inhibitory synaptic factor 2A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:134,483,637...134,540,159
Ensembl chr 7:134,483,655...134,540,159 		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 chr 7:138,542,057...138,663,893
Ensembl chr 7:138,542,459...138,663,892 		JBrowse link
G Kndc1 kinase non-catalytic C-lobe domain (KIND) containing 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,474,612...139,521,453
Ensembl chr 7:139,474,612...139,521,450 		JBrowse link
G Lrrc27 leucine rich repeat containing 27 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,791,548...138,822,895
Ensembl chr 7:138,792,904...138,822,895 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		JBrowse link
G Msx3 msh homeobox 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,626,070...139,629,001
Ensembl chr 7:139,626,070...139,629,002 		JBrowse link
G Mtg1 mitochondrial ribosome-associated GTPase 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,717,477...139,730,699
Ensembl chr 7:139,717,477...139,730,699 		JBrowse link
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,159,292...139,162,726
Ensembl chr 7:139,159,292...139,162,713 		JBrowse link
G Nps neuropeptide S ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:134,870,348...134,874,671
Ensembl chr 7:134,860,432...134,874,671 		JBrowse link
G Paox polyamine oxidase (exo-N4-amino) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,693,182...139,714,249
Ensembl chr 7:139,695,712...139,717,137 		JBrowse link
G Ppp2r2d protein phosphatase 2, regulatory subunit B, delta ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,448,073...138,484,786
Ensembl chr 7:138,447,808...138,484,786 		JBrowse link
G Prap1 proline-rich acidic protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,673,309...139,677,116
Ensembl chr 7:139,673,308...139,677,113 		JBrowse link
G Ptpre protein tyrosine phosphatase receptor type E ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:135,139,195...135,288,023
Ensembl chr 7:135,139,210...135,288,022 		JBrowse link
G Pwwp2b PWWP domain containing 2B ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,828,398...138,847,172
Ensembl chr 7:138,828,398...138,849,819 		JBrowse link
G Sprn shadow of prion protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,730,541...139,734,572
Ensembl chr 7:139,730,541...139,734,790 		JBrowse link
G Stk32c serine/threonine kinase 32C ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:138,683,554...138,793,223
Ensembl chr 7:138,683,554...138,793,223 		JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:140,357,142...140,367,767
Ensembl chr 7:140,357,142...140,367,765 		JBrowse link
G Tcerg1l transcription elongation regulator 1-like ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:137,810,701...137,999,459
Ensembl chr 7:137,810,703...137,999,459 		JBrowse link
G Tubgcp2 tubulin, gamma complex component 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,575,868...139,616,587
Ensembl chr 7:139,575,868...139,616,582 		JBrowse link
G Utf1 undifferentiated embryonic cell transcription factor 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,523,769...139,525,025
Ensembl chr 7:139,523,702...139,525,025 		JBrowse link
G Zfp511 zinc finger protein 511 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 7:139,616,302...139,620,519
Ensembl chr 7:139,616,304...139,620,515 		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 ClinVar
OMIM		 PMID:33252156 NCBI chr12:102,709,978...102,714,551
Ensembl chr12:102,710,021...102,713,820 		JBrowse link
extrapulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd209b CD209b antigen susceptibility ISO DNA:repeats:exon 4: allele 6, allele 9 (human) RGD PMID:24874302 RGD:39938981 NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO protein:increased expression:serum (human) RGD PMID:16001981 RGD:39939055 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505 		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 2:26,969,348...26,998,993
Ensembl chr 2:26,969,391...26,998,993 		JBrowse link
G Aff4 AF4/FMR2 family, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25730767 NCBI chr11:53,240,807...53,312,657
Ensembl chr11:53,241,660...53,312,657 		JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19935664 NCBI chr18:66,189,926...66,424,909
Ensembl chr18:66,178,373...66,435,812 		JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30670789 NCBI chr14:52,435,608...52,495,499
Ensembl chr14:52,435,608...52,495,237 		JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614070 NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443 		JBrowse link
G Fibp fibroblast growth factor (acidic) intracellular binding protein ISO ClinVar Annotator: match by term: facial dysmorphism ClinVar PMID:26660953 NCBI chr19:5,510,626...5,515,080
Ensembl chr19:5,510,643...5,515,079 		JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chr  X:67,722,144...67,761,569
Ensembl chr  X:67,722,147...67,761,569 		JBrowse link
G Jag1 jagged 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207787 PMID:9207788 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Msl3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:167,434,263...167,456,868
Ensembl chr  X:167,437,113...167,456,894 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: facial dysmorphism ClinVar NCBI chr 2:31,864,446...31,943,204
Ensembl chr 2:31,864,448...31,943,987 		JBrowse link
G Tbce tubulin-specific chaperone E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr13:14,172,532...14,214,235
Ensembl chr13:14,172,534...14,214,223 		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 chr11:69,807,538...69,812,784
Ensembl chr11:69,807,540...69,812,784 		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, alpha 2 polypeptide 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 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrochondrogenesis		 CTD
ClinVar		 PMID:21035103 PMID:23922384 PMID:28492532 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		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 ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 OMIM
ClinVar		 PMID:9536098 PMID:10486316 PMID:17236192 PMID:17576681 PMID:17999364 More... NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: Fibrochondrogenesis 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		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 ISO ClinVar Annotator: match by term: Fibrochondrogenesis 2 OMIM
ClinVar		 PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:17576681 More... NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Filippi syndrome		 OMIM
CTD
ClinVar		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 2:129,110,130...129,139,148
Ensembl chr 2:129,110,130...129,139,132 		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 2:26,969,348...26,998,993
Ensembl chr 2:26,969,391...26,998,993 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia ClinVar PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		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
IAGP		 ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1
OMIM:231050		 OMIM
ClinVar
MouseDO		 PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 More... NCBI chr 2:26,969,348...26,998,993
Ensembl chr 2:26,969,391...26,998,993 		JBrowse link
geleophysic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Geleophysic dysplasia 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852206 PMID:2005308 PMID:2254511 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		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 chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		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 chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432 		JBrowse link
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22311042 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:18727619 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Adh1 alcohol dehydrogenase 1 (class I) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16404797 NCBI chr 3:137,983,346...137,996,459
Ensembl chr 3:137,966,752...137,996,459 		JBrowse link
G Adora1 adenosine A1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19019667 NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169 		JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19019667 NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618 		JBrowse link
G Alad aminolevulinate, delta-, dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20123609 NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16404797 PMID:17590986 NCBI chr 5:121,704,090...121,731,887
Ensembl chr 5:121,704,090...121,731,887 		JBrowse link
G Apex1 apurinic/apyrimidinic endonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr14:51,162,406...51,164,645
Ensembl chr14:51,162,425...51,164,596 		JBrowse link
G Arhgef5 Rho guanine nucleotide exchange factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29054765 NCBI chr 6:43,242,578...43,266,250
Ensembl chr 6:43,242,516...43,266,254 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24928783 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35362730 NCBI chr 6:125,073,144...125,107,554
Ensembl chr 6:125,072,944...125,107,554 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611 		JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356304 NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519 		JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:14514962 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965 		JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		JBrowse link
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481 		JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34182385 NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Fcer1g Fc receptor, IgE, high affinity I, gamma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18595682 NCBI chr 1:171,057,141...171,061,918
Ensembl chr 1:171,057,141...171,061,934 		JBrowse link
G Gatad2a GATA zinc finger domain containing 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35362730 NCBI chr 8:70,359,719...70,450,093
Ensembl chr 8:70,359,726...70,449,034 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3459889 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3459889 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19222424 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22467534 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30472377 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19120683 NCBI chr 6:142,510,563...142,517,340
Ensembl chr 6:142,510,563...142,517,340 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157 		JBrowse link
G Msh6 mutS homolog 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29616133 NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
G Msln mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:35396937 NCBI chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352 		JBrowse link
G Mt2 metallothionein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27122239 NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196 		JBrowse link
G Myo18b myosin XVIIIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:29054765 NCBI chr 5:112,836,742...113,044,311
Ensembl chr 5:112,836,742...113,044,228 		JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036326 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Ppp3cc protein phosphatase 3, catalytic subunit, gamma isoform ISO CTD Direct Evidence: marker/mechanism CTD PMID:29275364 NCBI chr14:70,455,314...70,526,979
Ensembl chr14:70,455,314...70,526,920 		JBrowse link
G Rad51 RAD51 recombinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613844 NCBI chr 2:118,943,295...118,966,554
Ensembl chr 2:118,943,274...118,977,926 		JBrowse link
G Rsl1 regulator of sex limited protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29054765 NCBI chr13:67,321,238...67,332,108
Ensembl chr13:67,321,195...67,332,108 		JBrowse link
G Slc6a3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27219321 NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791 		JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:35764155 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29047144 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14514962 NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701 		JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613844 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307 		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 Zfp148 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12840224 PMID:25741868 PMID:27964749 PMID:28492532 NCBI chr16:33,201,145...33,324,273
Ensembl chr16:33,201,206...33,324,733 		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 chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		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
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... RGD:12880042 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		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 ClinVar
OMIM		 PMID:29851065 NCBI chr 9:46,184,362...46,193,941
Ensembl chr 9:46,184,362...46,193,941 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 More... NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar PMID:28492532 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		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 chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432 		JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr16:8,476,444...8,490,017
Ensembl chr16:8,476,444...8,490,019 		JBrowse link
G Mettl22 methyltransferase 22, Kin17 lysine ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr16:8,288,623...8,308,069
Ensembl chr16:8,288,652...8,308,548 		JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331 		JBrowse link
G Tmem114 transmembrane protein 114 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr16:8,227,140...8,243,000
Ensembl chr16:8,227,139...8,243,000 		JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Hao-Fountain syndrome ClinVar NCBI chr16:8,451,595...8,455,575
Ensembl chr16:8,451,093...8,455,576 		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 chr16:8,506,586...8,574,931
Ensembl chr16:8,507,459...8,610,172 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 More... NCBI chr 1:132,345,127...132,394,697
Ensembl chr 1:132,345,293...132,394,696 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		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 signal transducer ISO ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies OMIM
ClinVar		 PMID:19020503 PMID:25741868 PMID:33517393 NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620 		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 chr14:123,514,046...123,864,846
Ensembl chr14:123,514,046...123,864,556 		JBrowse link
G Unc80 unc-80, NALCN activator 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 chr 1:66,507,093...66,738,309
Ensembl chr 1:66,507,526...66,738,307 		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
CTD Direct Evidence: marker/mechanism
DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)
DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:23749988 PMID:24075186 PMID:25533962 More... RGD:12914762, RGD:12911215 NCBI chr14:123,514,046...123,864,846
Ensembl chr14:123,514,046...123,864,556 		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, NALCN activator ISO DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... RGD:11528248 NCBI chr 1:66,507,093...66,738,309
Ensembl chr 1:66,507,526...66,738,307 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 More... NCBI chr 3:132,389,874...132,547,451
Ensembl chr 3:132,389,905...132,547,449 		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 chr19:59,284,516...59,334,212
Ensembl chr19:59,285,610...59,334,212 		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 chr11:115,656,245...115,689,859
Ensembl chr11:115,656,259...115,690,192 		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 chr17:88,298,287...88,373,473
Ensembl chr17:88,298,287...88,372,719 		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 chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:25741909 PMID:27939639 PMID:27939640 PMID:28492532 More... NCBI chr 6:113,283,824...113,301,823
Ensembl chr 6:113,284,098...113,301,821 		JBrowse link
G Rpl10l ribosomal protein L10-like ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar NCBI chr12:66,330,153...66,331,175
Ensembl chr12:66,330,153...66,331,175 		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 domain containing 6B ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 More... NCBI chr 4:14,809,503...14,826,413
Ensembl chr 4:14,809,498...14,826,587 		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 chr12:108,169,858...108,244,111
Ensembl chr12:108,169,861...108,241,684 		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 chr12:108,145,543...108,170,252
Ensembl chr12:108,145,838...108,169,618 		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 (importin 3, karyopherin beta 2b) ISO ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition OMIM
ClinVar		 PMID:25741868 PMID:34314705 NCBI chr 8:85,763,502...85,784,214
Ensembl chr 8:85,763,544...85,784,212 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with impaired language and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:31422817 NCBI chr 9:44,514,113...44,552,028
Ensembl chr 9:44,516,189...44,552,028 		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 chr10:116,321,065...116,418,891
Ensembl chr10:116,321,066...116,417,416 		JBrowse link
intellectual developmental disorder with ocular anomalies and distinctive facial features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with ocular anomalies and distinctive facial features | ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:36067766 NCBI chr 8:111,447,718...111,468,032
Ensembl chr 8:111,448,108...111,468,032 		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 chr14:103,318,470...103,337,016
Ensembl chr14:103,317,675...103,337,002 		JBrowse link
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot3 CCR4-NOT transcription complex, subunit 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31201375 PMID:32720325 NCBI chr 7:3,646,717...3,664,108
Ensembl chr 7:3,648,267...3,664,108 		JBrowse link
G Leng1 leukocyte receptor cluster (LRC) member 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:29758562 NCBI chr 7:3,663,106...3,668,839
Ensembl chr 7:3,663,097...3,668,839 		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 B cell leukemia/lymphoma 11B 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 chr12:107,876,662...107,970,404
Ensembl chr12:107,876,662...107,969,861 		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 E3 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:7,628,769...7,641,441
Ensembl chr  X:7,628,799...7,641,441 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE		 OMIM
CTD
ClinVar		 PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 More... NCBI chr 5:76,285,296...76,303,350
Ensembl chr 5:76,288,118...76,303,351 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type
OMIM:244450		 CTD
ClinVar
MouseDO
OMIM		 PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 More... NCBI chr 5:114,518,578...114,559,226
Ensembl chr 5:114,518,668...114,559,230 		JBrowse link
KBG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700018B08Rik RIKEN cDNA 1700018B08 gene ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,257,515...122,271,077
Ensembl chr 8:122,257,519...122,271,059 		JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
DNA:deletions, SNPs:CDS:multiple (human)
DNA:mutations:CDS:multiple (human)
OMIM:148050		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:15378538 PMID:15523620 PMID:15955779 PMID:16199547 More... RGD:11068938, RGD:11086621 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648 		JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997 		JBrowse link
G Car5a carbonic anhydrase 5a, mitochondrial ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 translocation partner 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502 		JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877 		JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551 		JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,276,182...122,305,607
Ensembl chr 8:122,276,179...122,305,545 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015 		JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499 		JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161 		JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Snai3 snail family zinc finger 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472 		JBrowse link
G Spata2l spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785 		JBrowse link
G Tbx1 T-box 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Trappc2l trafficking protein particle complex 2L ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835 NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099 		JBrowse link
G Zcchc14 zinc finger, CCHC domain containing 14 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,325,442...122,379,662
Ensembl chr 8:122,325,442...122,379,640 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990 		JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome		 OMIM
CTD
ClinVar		 PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 NCBI chr16:94,545,839...94,798,719
Ensembl chr16:94,549,495...94,798,560 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20335603 PMID:21763480 More... NCBI chr19:8,897,740...8,904,600
Ensembl chr19:8,897,738...8,904,600 		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 chr13:55,747,709...55,758,258
Ensembl chr13:55,747,709...55,758,256 		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 chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:60,017,349...60,057,936
Ensembl chr10:60,017,354...60,055,082 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:25741868 PMID:28492532 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Ganab alpha glucosidase 2 alpha neutral subunit ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,875,440...8,894,098
Ensembl chr19:8,875,435...8,894,036 		JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,870,351...8,875,254
Ensembl chr19:8,870,369...8,875,252 		JBrowse link
G Lbhd1 LBH domain containing 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,861,242...8,868,123
Ensembl chr19:8,861,096...8,869,991 		JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,828,132...8,831,273
Ensembl chr19:8,828,132...8,831,273 		JBrowse link
G Rom1 rod outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:20335603 PMID:28492532 NCBI chr19:8,904,746...8,906,720
Ensembl chr19:8,904,755...8,906,720 		JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,848,912...8,853,030
Ensembl chr19:8,848,860...8,853,227 		JBrowse link
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type ClinVar PMID:28492532 NCBI chr19:8,857,378...8,858,297
Ensembl chr19:8,857,378...8,858,287 		JBrowse link
Latent Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Gpa33 glycoprotein A33 transmembrane ISO mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) RGD PMID:29602771 RGD:41404732 NCBI chr 1:165,957,790...165,994,079
Ensembl chr 1:165,957,807...165,994,079 		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 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		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 chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 (putative) ISO ClinVar Annotator: match by term: Li-Campeau syndrome OMIM
ClinVar		 PMID:25741868 PMID:33340455 NCBI chr12:102,724,234...102,743,960
Ensembl chr12:102,724,226...102,743,966 		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 CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar
OMIM		 PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies		 OMIM
CTD
ClinVar		 PMID:9689990 PMID:21552264 PMID:22587682 PMID:25741868 PMID:28492532 NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chr 6:119,547,757...119,830,985
Ensembl chr 6:119,547,757...119,825,128 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 More... NCBI chr 9:66,257,694...66,416,057
Ensembl chr 9:66,257,732...66,416,057 		JBrowse link
macrocephaly-autism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm36566 predicted gene, 36566 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 chr19:32,731,847...32,734,812 JBrowse link
G Pten phosphatase and tensin homolog ISO
IAGP		 DNA:missense mutations:cds:p.H93R, p.D252G, p.F241S (human)
ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome
CTD Direct Evidence: marker/mechanism
OMIM:605309		 ClinVar
OMIM
CTD
MouseDO
RGD		 PMID:1336932 PMID:2338203 PMID:9140396 PMID:9241266 PMID:9259288 More... RGD:12832751 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 8:94,698,216...94,739,301
Ensembl chr 8:94,698,216...94,739,470 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:93,301,518...93,332,026
Ensembl chr 1:93,301,652...93,332,025 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		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 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:22,477,195...22,663,284
Ensembl chr18:22,477,303...22,663,072 		JBrowse link
G Atp1a1 ATPase, Na+/K+ transporting, alpha 1 polypeptide ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:101,483,535...101,512,023
Ensembl chr 3:101,483,535...101,512,000 		JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:126,090,880...126,106,991
Ensembl chr 7:126,090,880...126,102,609 		JBrowse link
G B3glct beta-3-glucosyltransferase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:149,601,565...149,686,064
Ensembl chr 5:149,601,695...149,686,064 		JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,747,709...55,758,258
Ensembl chr13:55,747,709...55,758,256 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123 		JBrowse link
G Begain brain-enriched guanylate kinase-associated ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr12:108,998,107...109,034,168
Ensembl chr12:108,998,113...109,034,143 		JBrowse link
G Cdh5 cadherin 5 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 8:104,828,247...104,871,136
Ensembl chr 8:104,828,257...104,871,143 		JBrowse link
G Cdhr2 cadherin-related family member 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:54,849,276...54,884,475
Ensembl chr13:54,849,274...54,884,475 		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 chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:95,222,077...95,230,910
Ensembl chr 3:95,222,102...95,230,910 		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 chr11:69,234,099...69,260,325
Ensembl chr11:69,234,099...69,260,232 		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 chr14:52,435,608...52,495,499
Ensembl chr14:52,435,608...52,495,237 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28288114 NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
G Cit citron ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:115,983,284...116,147,012
Ensembl chr 5:115,983,337...116,147,006 		JBrowse link
G Cldn11 claudin 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 3:31,204,069...31,218,475
Ensembl chr 3:31,204,069...31,218,473 		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 chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555 		JBrowse link
G Col6a3 collagen, type VI, alpha 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Dbn1 drebrin 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,621,241...55,635,874
Ensembl chr13:55,621,242...55,635,924 		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:13,147,261...13,160,222
Ensembl chr  X:13,147,209...13,160,291 		JBrowse link
G Ddx41 DEAD box helicase 41 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,678,223...55,684,471
Ensembl chr13:55,678,223...55,684,471 		JBrowse link
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:111,715,226...111,758,689
Ensembl chr 7:111,715,224...111,758,264 		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 chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348 		JBrowse link
G Dok3 docking protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,671,044...55,678,158
Ensembl chr13:55,671,044...55,677,109 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 9:45,338,735...45,665,011
Ensembl chr 9:45,337,926...45,665,010 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		JBrowse link
G Ehmt1 euchromatic histone methyltransferase 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:32277047 PMID:36250449 NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626 		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 chr13:54,931,807...54,936,272
Ensembl chr13:54,931,811...54,936,272 		JBrowse link
G Emilin3 elastin microfibril interfacer 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:160,748,358...160,754,259
Ensembl chr 2:160,748,357...160,754,248 		JBrowse link
G F12 coagulation factor XII (Hageman factor) ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,565,771...55,574,617
Ensembl chr13:55,565,771...55,574,606 		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 chr13:54,769,597...54,811,876
Ensembl chr13:54,769,597...54,811,876 		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 chr13:55,687,129...55,718,920
Ensembl chr13:55,687,129...55,718,933 		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 chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		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 chr17:88,298,287...88,373,473
Ensembl chr17:88,298,287...88,372,719 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Fkbp8 FK506 binding protein 8 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 8:70,980,371...70,987,978
Ensembl chr 8:70,980,374...70,987,978 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757 		JBrowse link
G Glt8d2 glycosyltransferase 8 domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr10:82,486,262...82,529,846
Ensembl chr10:82,486,267...82,526,484 		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 chr13:54,884,484...54,897,486
Ensembl chr13:54,884,484...54,897,687 		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 chr13:55,592,865...55,608,740
Ensembl chr13:55,592,885...55,608,740 		JBrowse link
G Hdlbp high density lipoprotein (HDL) binding protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 1:93,333,662...93,406,639
Ensembl chr 1:93,333,662...93,406,537 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,153,798...55,169,233
Ensembl chr13:55,153,798...55,169,198 		JBrowse link
G Kcnb1 potassium voltage gated channel, Shab-related subfamily, member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:166,937,889...167,032,088
Ensembl chr 2:166,937,889...167,032,075 		JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,491,646...55,510,596
Ensembl chr13:55,491,646...55,510,596 		JBrowse link
G Med13l mediator complex subunit 13-like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:118,698,363...118,903,503
Ensembl chr 5:118,698,744...118,903,503 		JBrowse link
G Mtrex Mtr4 exosome RNA helicase ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:113,004,306...113,063,914
Ensembl chr13:113,003,952...113,063,932 		JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,472,983...55,477,937
Ensembl chr13:55,472,981...55,477,636 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:99,460,646...99,477,579
Ensembl chr 7:99,460,646...99,477,624 		JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		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 4:82,208,410...82,424,988
Ensembl chr 4:82,208,410...82,623,987 		JBrowse link
G Nfix nuclear factor I/X ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 8:85,431,341...85,527,086
Ensembl chr 8:85,426,505...85,526,973 		JBrowse link
G Nkap NFKB activating protein ISO DNA:missense mutations:exon 8-9:multiple (human) RGD PMID:31587868 RGD:155641252 NCBI chr  X:36,390,416...36,414,399
Ensembl chr  X:36,390,448...36,414,399 		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 chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		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 1:163,529,415...163,552,801
Ensembl chr 1:163,529,825...163,552,801 		JBrowse link
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:35,154,551...35,224,534
Ensembl chr 6:35,154,356...35,224,531 		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 chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998 		JBrowse link
G Pdlim7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,645,300...55,661,281
Ensembl chr13:55,643,608...55,661,489 		JBrowse link
G Pfn3 profilin 3 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,562,501...55,563,045
Ensembl chr13:55,562,501...55,563,045 		JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:89,778,711...89,858,655
Ensembl chr 7:89,779,421...89,862,673 		JBrowse link
G Pkd1l2 polycystic kidney disease 1 like 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 8:117,722,089...117,809,227
Ensembl chr 8:117,722,418...117,809,188 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,469,868...55,473,085
Ensembl chr13:55,468,313...55,473,085 		JBrowse link
G Prr7 proline rich 7 (synaptic) ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,612,080...55,620,968
Ensembl chr13:55,612,080...55,620,967 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,467,036...55,469,807
Ensembl chr13:55,467,556...55,469,759 		JBrowse link
G Ralgapb Ral GTPase activating protein, beta subunit (non-catalytic) ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:158,251,722...158,341,173
Ensembl chr 2:158,251,768...158,341,173 		JBrowse link
G Ranbp10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 8:106,494,940...106,560,463
Ensembl chr 8:106,494,940...106,553,982 		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 chr13:55,517,269...55,532,504
Ensembl chr13:55,517,545...55,532,500 		JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:54,827,212...54,841,889
Ensembl chr13:54,827,212...54,841,720 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G Sidt1 SID1 transmembrane family, member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr16:44,060,540...44,153,575
Ensembl chr16:44,060,543...44,153,559 		JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405 		JBrowse link
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:54,906,673...54,914,435
Ensembl chr13:54,906,673...54,914,408 		JBrowse link
G Spag9 sperm associated antigen 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr11:93,886,794...94,016,919
Ensembl chr11:93,886,917...94,016,911 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:29419869 PMID:30334930 NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 homolog (rat) ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr17:27,160,186...27,191,408
Ensembl chr17:27,160,227...27,191,408 		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:100,576,335...100,644,635
Ensembl chr  X:100,576,340...100,645,395 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 6:125,200,890...125,208,823
Ensembl chr 6:125,200,896...125,208,823 		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 chr 2:61,633,228...61,644,458
Ensembl chr 2:61,633,274...61,644,458 		JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,740,948...55,745,510
Ensembl chr13:55,721,545...55,745,510 		JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 7:144,735,370...144,837,743
Ensembl chr 7:144,740,261...144,837,748 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:54,936,915...54,944,588
Ensembl chr13:54,937,190...54,944,589 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,175,693...55,248,176
Ensembl chr13:55,175,693...55,248,113 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,090,545...55,153,831
Ensembl chr13:55,097,224...55,153,831 		JBrowse link
G Wscd2 WSC domain containing 2 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 5:113,636,976...113,727,786
Ensembl chr 5:113,638,199...113,727,786 		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 1:177,269,892...177,278,330
Ensembl chr 1:177,269,917...177,278,330 		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 chr16:42,728,008...43,462,981
Ensembl chr16:42,696,244...43,462,965 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr 2:181,012,105...181,134,776
Ensembl chr 2:181,029,555...181,101,219 		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 chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407 		JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability ClinVar PMID:25741868 NCBI chr13:55,253,079...55,282,884
Ensembl chr13:55,253,124...55,282,638 		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 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 chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605 		JBrowse link
Meningeal Tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4ra interleukin 4 receptor, alpha ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Tnf tumor necrosis factor IMP RGD PMID:10318940 RGD:10449456 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		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 13-like 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14638541 PMID:17576681 PMID:22542183 PMID:24781760 More... NCBI chr 5:118,698,363...118,903,503
Ensembl chr 5:118,698,744...118,903,503 		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 runt related transcription factor 2 ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10521292 PMID:10545612 PMID:11857736 PMID:16140555 PMID:19767586 More... NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684 		JBrowse link
G Supt3 SPT3, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly ClinVar PMID:23290074 NCBI chr17:45,088,005...45,430,181
Ensembl chr17:45,088,039...45,430,177 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chr19:37,364,830...37,410,311
Ensembl chr19:37,364,851...37,410,307 		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 MAD1 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 5:139,994,444...140,307,346
Ensembl chr 5:139,994,444...140,307,307 		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 neuroprotective protein ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr 2:168,022,885...168,049,032
Ensembl chr 2:168,022,906...168,049,032 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 2:43,638,786...44,285,965
Ensembl chr 2:43,638,836...44,285,965 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 2:44,454,420...44,817,761
Ensembl chr 2:44,454,424...44,817,669 		JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 2:43,445,270...43,572,734
Ensembl chr 2:43,445,341...43,572,734 		JBrowse link
G Lrp1b low density lipoprotein-related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 2:40,485,302...42,543,747
Ensembl chr 2:40,485,258...42,543,636 		JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 2:23,211,258...23,291,998
Ensembl chr 2:23,211,258...23,291,985 		JBrowse link
G Spopl speckle-type BTB/POZ protein-like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 2:23,382,942...23,462,139
Ensembl chr 2:23,396,232...23,462,118 		JBrowse link
G Thsd7b thrombospondin, type I, domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 1:129,201,010...130,147,015
Ensembl chr 1:129,201,039...130,147,015 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO
IAGP		 ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition
OMIM:235730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407 		JBrowse link
G Zeb2os zinc finger E-box binding homeobox 2, opposite strand ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 2:45,001,150...45,004,099
Ensembl chr 2:45,000,719...45,004,099 		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:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms (human) RGD PMID:14522182 RGD:5147828 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism (human) RGD PMID:14522182 RGD:5147828 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
Myoectodermal Gonadal Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam177a2 family with sequence similarity 177 member A2 ISO ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy ClinVar PMID:8849014 PMID:30893644 PMID:34714774 PMID:34750818 PMID:35812758 NCBI chr12:55,246,377...55,263,953
Ensembl chr12:55,246,377...55,263,953 		JBrowse link
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 chr12:55,327,594...55,350,024
Ensembl chr12:55,325,776...55,349,783 		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 chr12:55,349,422...55,429,276
Ensembl chr12:55,346,362...55,429,318 		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 chr11:95,304,909...95,384,236
Ensembl chr11:95,304,906...95,384,232 		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 chr11:95,304,909...95,384,236
Ensembl chr11:95,304,906...95,384,232 		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 5:139,737,037...139,761,455
Ensembl chr 5:139,737,037...139,761,429 		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 chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421 		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 ClinVar
OMIM		 PMID:32639540 NCBI chr13:30,968,421...31,162,082
Ensembl chr13:30,968,416...30,979,209
Ensembl chr13:30,968,416...30,979,209 		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 chr13:31,130,559...31,131,744
Ensembl chr13:31,130,556...31,131,742 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmiz1 zinc finger, MIZ-type containing 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | ClinVar Annotator: match by term: ZMIZ1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:30639322 NCBI chr14:25,458,299...25,667,167
Ensembl chr14:25,459,609...25,667,167 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia OMIM
ClinVar		 PMID:36608681 NCBI chr 8:105,237,660...105,261,269
Ensembl chr 8:105,237,660...105,261,269 		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 4:136,038,230...136,086,758
Ensembl chr 4:136,038,253...136,086,758 		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 Supt16 SPT16, 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 chr14:52,397,876...52,434,696
Ensembl chr14:52,397,871...52,434,873 		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 chr 7:44,139,361...44,145,953
Ensembl chr 7:44,139,361...44,145,953 		JBrowse link
G Garin5a golgi associated RAB2 interactor 5A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures ClinVar PMID:25741868 PMID:35684946 NCBI chr 7:44,145,923...44,153,690
Ensembl chr 7:44,146,005...44,150,910 		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 chr 2:90,967,705...91,013,404
Ensembl chr 2:90,967,705...91,014,182 		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 K(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 chr19:5,653,042...5,661,584
Ensembl chr19:5,653,042...5,660,265 		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 chr19:5,651,901...5,652,987
Ensembl chr19:5,651,901...5,657,047 		JBrowse link
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36044892 NCBI chr 7:30,427,126...30,428,959
Ensembl chr 7:30,427,126...30,428,965 		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 (SII)-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:135,608,731...135,610,622
Ensembl chr  X:135,608,731...135,612,227 		JBrowse link
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fra10ac1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34694367 PMID:35821753 PMID:35871492 NCBI chr19:38,176,925...38,213,078
Ensembl chr19:38,176,929...38,212,604 		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 guanine nucleotide binding protein (G protein), 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 5:137,526,389...137,533,085
Ensembl chr 5:137,526,389...137,531,772 		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 chr19:22,114,789...22,972,774
Ensembl chr19:22,116,410...22,972,774 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgm2l1 phosphoglucomutase 2-like 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities OMIM
ClinVar		 PMID:28492532 PMID:33979636 NCBI chr 7:99,876,471...99,928,079
Ensembl chr 7:99,876,601...99,928,075 		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 3:89,906,896...89,959,867
Ensembl chr 3:89,907,447...89,959,935 		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/monooxygenase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM
ClinVar		 PMID:25741868 PMID:35858628 NCBI chr10:81,220,268...81,224,186
Ensembl chr10:81,220,262...81,224,186 		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 Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies OMIM
ClinVar		 PMID:26633546 PMID:34313816 NCBI chr 7:127,460,197...127,476,008
Ensembl chr 7:127,462,219...127,476,000 		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 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 chr 7:127,376,561...127,399,294
Ensembl chr 7:127,375,842...127,399,294 		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 chr11:120,612,294...120,614,795
Ensembl chr11:120,612,296...120,614,795 		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 chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:159,548,815...159,584,800
Ensembl chr  X:159,551,009...159,582,659 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 PMID:22366787 More... NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		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 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
Oculoskeletodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31034465 NCBI chr 7:115,936,500...116,042,693
Ensembl chr 7:115,936,500...116,042,684 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b K(lysine) acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546 		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 chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 5:114,518,578...114,559,226
Ensembl chr 5:114,518,668...114,559,230 		JBrowse link
oligomeganephronia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 B cell leukemia/lymphoma 2 IAGP MouseDO NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19481194 PMID:25741868 PMID:28492532 NCBI chr14:117,162,332...118,216,941
Ensembl chr14:117,162,727...118,213,956 		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 chr11:102,495,257...102,498,884
Ensembl chr11:102,495,222...102,498,884 		JBrowse link
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp2 tubulin, gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr 7:139,575,868...139,616,587
Ensembl chr 7:139,575,868...139,616,582 		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 specific 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10507728 PMID:15543146 PMID:18591390 PMID:19650412 PMID:20065546 More... NCBI chr 2:19,450,474...19,452,312
Ensembl chr 2:19,450,474...19,452,312 		JBrowse link
Pierpont syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1xr1 transducin (beta)-like 1X-linked receptor 1 ISO
IAGP		 OMIM:602342
ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 More... NCBI chr 3:22,130,756...22,270,758
Ensembl chr 3:22,130,816...22,270,758 		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:21860532 PMID:1818842 PMID:1689629 PMID:18357489 RGD:152995280, RGD:152998934, RGD:152995292, RGD:152995288 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO RGD PMID:20337996 RGD:4891473 NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:19159432 RGD:4145106 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		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 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		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:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism: :3953T>C (human) RGD PMID:10377182 RGD:4143226 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeat (human) RGD PMID:10377182 RGD:4143226 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		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:25753767 PMID:31819557 PMID:23962500 PMID:28844060 RGD:126790505, RGD:126790549, RGD:126790523, RGD:126790517 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:pleural fluid: RGD PMID:23301222 RGD:39939042 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:pleura: RGD PMID:18715875 RGD:5129700 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:18295348 RGD:4144193 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnc tenascin C ISO protein:increased expression:pleura RGD PMID:10950882 RGD:4889594 NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252 		JBrowse link
Pneumonia, Ventilator-Associated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gc vitamin D binding protein ISO protein:increased expression:bronchoalveolar fluid: RGD PMID:21136918 RGD:5509873 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757 		JBrowse link
pulmonary tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A treatment ISO DNA:SNP: :2677G>A (human) RGD PMID:26067842 RGD:11098541 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Ada adenosine deaminase ISO protein:increased expression:plasma, respiratory system fluid/secretion
protein:increased activity:sputum:
protein:increased activity:blood, pulmonary alveolar duct		 RGD PMID:12194640 PMID:19460251 PMID:2212911 RGD:5128854, RGD:152995271, RGD:152995390 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22022605 RGD:5686405 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Akt1 thymoma viral proto-oncogene 1 susceptibility ISO DNA:SNP,haplotype:intron: IVS3+18 C/C (human) RGD PMID:20141546 RGD:38676498 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase susceptibility ISO DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) RGD PMID:18174194 RGD:4890411 NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139 		JBrowse link
G Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25774636 NCBI chr15:63,958,704...64,254,922
Ensembl chr15:63,958,706...64,254,768 		JBrowse link
G Atf3 activating transcription factor 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr 1:190,902,493...190,915,530
Ensembl chr 1:190,902,493...190,950,236 		JBrowse link
G C3 complement component 3 ISO RGD PMID:19472039 RGD:5129500 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 susceptibility ISO
IEP		 DNA:SNP: :multiple (human)
mRNA:increased expression:lung, dendritic cell		 RGD PMID:19057661 PMID:18703681 RGD:4891408, RGD:4891409 NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 IEP mRNA:increased expression:lung RGD PMID:19933855 RGD:5130906 NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism: :-2518A>G (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16352737 PMID:18940815 PMID:20111728 RGD:4891439 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		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:19335954 PMID:15128813 RGD:4891879, RGD:4892112 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 disease_progression IMP RGD PMID:11438742 RGD:734715 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		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 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd14 CD14 antigen susceptibility ISO DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:monocyte, serum RGD PMID:18008256 PMID:18008256 RGD:4144205, RGD:4144205 NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851 		JBrowse link
G Cd163 CD163 antigen exacerbates ISO protein:increased expression:blood plasma, CD14-positive monocyte (human)
protein:increased expression:blood serum (human)		 RGD PMID:27685837 PMID:27684274 RGD:127285801, RGD:127345136 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486 		JBrowse link
G Cd1d1 CD1d1 antigen susceptibility ISO DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human) RGD PMID:30972222 RGD:127345096 NCBI chr 3:86,903,141...86,919,665
Ensembl chr 3:86,903,141...86,906,748 		JBrowse link
G Cd209b CD209b antigen susceptibility IMP
ISO		 DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human) RGD PMID:19770268 PMID:24874302 PMID:17224292 RGD:39938983, RGD:39938981, RGD:39938987 NCBI chr 8:3,967,655...3,976,841
Ensembl chr 8:3,967,655...3,976,844 		JBrowse link
G Cd209d CD209d antigen susceptibility ISO associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human) RGD PMID:19126442 RGD:39939062 NCBI chr 8:3,921,824...3,928,548
Ensembl chr 8:3,921,824...3,928,555 		JBrowse link
G Cd274 CD274 antigen ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Cd36 CD36 molecule susceptibility ISO DNA:SNPs: :rs1194182, rs10499859(human) RGD PMID:28693442 RGD:41412192 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd86 CD86 antigen ISO protein:decreased expression:sputum, macrophage (human) RGD PMID:17713660 RGD:4892339 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Crp C-reactive protein, pentraxin-related severity ISO associated with HIV Infections RGD PMID:21219690 PMID:21197091 RGD:5131284, RGD:5131287 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:29843631 RGD:27095956 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 exacerbates ISO protein:increased expression:serum (human)
RNA:increased expression:blood plasma (human)		 RGD PMID:16001981 PMID:27434276 RGD:150523784 RGD:39939055 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 disease_progression IEP RGD PMID:20454613 RGD:5135037 NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797 		JBrowse link
G Cxcl5 C-X-C motif chemokine ligand 5 susceptibility IEP mRNA:increased expression:lung RGD PMID:16790804 RGD:5135246 NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483 		JBrowse link
G Cyba cytochrome b-245, alpha polypeptide no_association ISO DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) RGD PMID:16608528 RGD:4780358 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO mRNA,protein:increased expression:lung RGD PMID:20856677 RGD:34888225 NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157 		JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO associated with lung adenocarcinoma; RGD PMID:29621876 PMID:22173705 RGD:38599162, RGD:38599176 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:exon 4: (rs2367707) (human) RGD PMID:30634928 RGD:39457687 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505 		JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:polymorphism:promoter:-924A>G(human) RGD PMID:29020928 RGD:38501101 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO DNA:SNP:intron:rs2307058 (human) RGD PMID:28355295 RGD:18337291 NCBI chr16:70,110,837...70,366,608
Ensembl chr16:70,110,837...70,366,604 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO associated with GSTT1 null deletion; DNA:deletion: : RGD PMID:20297661 RGD:4140932 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion: : RGD PMID:20297661 RGD:4140932 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 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:28612994 PMID:24024195 RGD:5147614, RGD:36049765, RGD:36049753 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0201(human)
DNA:polymorphism: :HLA-DRB1*09:01(human)		 RGD PMID:24024195 PMID:28612994 RGD:36049753, RGD:36049765 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21382414 RGD:5135524 NCBI chr11:46,345,758...46,372,082
Ensembl chr11:46,345,762...46,372,082 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 treatment ISO RGD PMID:32369456 RGD:39939073 NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025 		JBrowse link
G Il13 interleukin 13 ISO mRNA:increased expression:Leukocytes, Mononuclear RGD PMID:10608794 RGD:4145649 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529 		JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:15955140 RGD:4889836 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1a interleukin 1 alpha IEP RGD PMID:9176116 RGD:4142835 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta severity
susceptibility		 ISO protein:increased expression:lung
DNA:polymorphism: :3953T>C (human)
protein:increased expression:bronchioalveolar lavage fluid (human)		 RGD PMID:10543265 PMID:16634865 PMID:10631206 RGD:4143180, RGD:5147843, RGD:4143179 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 IMP RGD PMID:28128217 RGD:39938965 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO protein:increased expression:lung, serum RGD PMID:10543265 PMID:14619382 PMID:10631206 RGD:4143180, RGD:4143174, RGD:4143179 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il23a interleukin 23, alpha subunit p19 IMP
IEP		 mRNA:increased expression:lung (mouse) RGD PMID:16002675 PMID:21156751 PMID:20624887 PMID:11801672 RGD:39457949, RGD:39458038, RGD:39458036, RGD:39457953 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621 		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:31949807 PMID:30948177 RGD:126790508, RGD:39456132 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il27ra interleukin 27 receptor, alpha IMP RGD PMID:15749890 RGD:5128486 NCBI chr 8:84,756,915...84,769,250
Ensembl chr 8:84,756,923...84,769,218 		JBrowse link
G Il33 interleukin 33 IDA RGD PMID:28128217 RGD:39938965 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Il4 interleukin 4 severity IEP RGD PMID:20832364 RGD:5128550 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO protein:decreased expression:serum RGD PMID:21251883 RGD:5128510 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:20624776 RGD:4143257 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO protein:decreased expression:T cell RGD PMID:20019339 RGD:5128632 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
G Irf1 interferon regulatory factor 1 IMP RGD PMID:11083808 RGD:5128719 NCBI chr11:53,660,841...53,669,200
Ensembl chr11:53,660,841...53,669,200 		JBrowse link
G Itih4 inter alpha-trypsin inhibitor, heavy chain 4 ISO protein:increased expression:urine RGD PMID:29636444 RGD:40903003 NCBI chr14:30,608,433...30,623,943
Ensembl chr14:30,608,433...30,624,310 		JBrowse link
G Jun jun proto-oncogene ISO protein:decreased phosphorylation:macrophage, nucleus RGD PMID:19737230 RGD:4889999 NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459 		JBrowse link
G Lcn2 lipocalin 2 exacerbates
disease_progression		 IMP RGD PMID:19050270 PMID:30534124 RGD:126779558, RGD:126779565 NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264 		JBrowse link
G Lta lymphotoxin A susceptibility ISO DNA:polymorphism:intron:252G>A (human) RGD PMID:20180006 RGD:4143234 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Marco macrophage receptor with collagenous structure susceptibility ISO DNA:SNP: :rs12998782(human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)
DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)		 RGD PMID:28693442 PMID:23617307 PMID:27853145 RGD:41412192, RGD:41412195, RGD:41412194 NCBI chr 1:120,402,267...120,432,753
Ensembl chr 1:120,402,267...120,432,753 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human) RGD PMID:19199550 RGD:4889452 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) susceptibility ISO DNA:SNP: :rs755622 (human) RGD PMID:20439102 RGD:4891004 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074 		JBrowse link
G Mir30a microRNA 30a disease_progression ISO RGD PMID:25866116 RGD:35668864 NCBI chr 1:23,311,350...23,311,420
Ensembl chr 1:23,311,350...23,311,420 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,586 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24890593 NCBI chr 9:7,558,430...7,568,487
Ensembl chr 9:7,558,457...7,568,486 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IMP RGD PMID:16982845 RGD:5130746 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO RGD PMID:20297661 RGD:4140932 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:9379002 RGD:126908014 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO DNA:SNPs:CDs:p.P268S, R702W, A725G (human) RGD PMID:18419343 RGD:5131510 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO DNA:SNPs:multiple (human) RGD PMID:19575238 RGD:4144122 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 PMID:23661793 RGD:40818418, RGD:40818418 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO protein:increased expression:Tcell, B cell, monocyte RGD PMID:23661793 RGD:40818418 NCBI chr19:29,388,319...29,450,327
Ensembl chr19:29,388,319...29,448,561 		JBrowse link
G Plaur plasminogen activator, urokinase receptor severity ISO RGD PMID:18359089 RGD:6483832 NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) ISO DNA:SNPs:cds:788G>A, 1858C>T (human) RGD PMID:19563523 RGD:6484723 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Sftpa1 surfactant associated protein A1 susceptibility ISO DNA:SNPs:exons:307G>A, 776C>T (human)
DNA:SNP:intron:1416C>T (human)		 RGD PMID:16292672 PMID:12476938 RGD:4144874, RGD:4144875 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO DNA:polymorphism:intron (human)
DNA:deletion:3'UTR:		 RGD PMID:21169917 PMID:24024195 RGD:5684974, RGD:36049753 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ISO associated with HIV Infections; RGD PMID:21843574 RGD:6482248 NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199 		JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) susceptibility ISO DNA:polymorphism: : RGD PMID:9062973 RGD:5147851 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295 		JBrowse link
G Tlr1 toll-like receptor 1 ISO mRNA:increased expression:blood RGD PMID:16493059 RGD:4889525 NCBI chr 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphism:intron (human)
DNA:polymorphisms: :multiple (human)
DNA:SNP: :rs1816702 (human)
mRNA, protein:increased expression:blood, T cell		 RGD PMID:20298136 PMID:20113509 PMID:19723394 PMID:19552525 RGD:4145304, RGD:4145320, RGD:4145323, RGD:4145355 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr4 toll-like receptor 4 severity
susceptibility		 ISO DNA:polymorphisms:cds: p. D299F, T399I (human)
DNA:SNP:intron: rs5030729 (human)
protein:increased expression:monocyte		 RGD PMID:20403143 PMID:19575238 PMID:18008256 RGD:4144106, RGD:4144122, RGD:4144205 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr9 toll-like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:19771452 RGD:5130704 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Tnf tumor necrosis factor susceptibility
disease_progression		 ISO
IEP		 DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) RGD PMID:20650298 PMID:18212516 PMID:9176116 RGD:4143388, RGD:4143395, RGD:4142835 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 disease_progression ISO RGD PMID:29844416 RGD:126925977 NCBI chr17:48,539,763...48,553,955
Ensembl chr17:48,539,796...48,553,952 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:SNP (human)
DNA:SNPs:5' UTR (human)
DNA:SNPs:promoter, 3' UTR (human)
DNA:SNPs (human)		 RGD PMID:17236578 PMID:20231985 PMID:18397302 PMID:18231846 PMID:15295697 RGD:4889849, RGD:4889830, RGD:4889842, RGD:4889845, RGD:4889853 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
Recurrence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP-binding cassette, sub-family A member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr 1:71,282,249...71,454,069
Ensembl chr 1:71,281,435...71,454,069 		JBrowse link
G Abca8b ATP-binding cassette, sub-family A member 8b ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr11:109,823,016...109,886,642
Ensembl chr11:109,823,016...109,886,671 		JBrowse link
G Abcb6 ATP-binding cassette, sub-family B member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr 1:75,148,284...75,157,066
Ensembl chr 1:75,148,361...75,157,036 		JBrowse link
G Abcb8 ATP-binding cassette, sub-family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr 5:24,598,679...24,617,757
Ensembl chr 5:24,598,661...24,615,052 		JBrowse link
G Abcc10 ATP-binding cassette, sub-family C member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35837087 NCBI chr17:46,614,146...46,638,954
Ensembl chr17:46,614,147...46,639,278 		JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:22304828 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19385967 NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959 		JBrowse link
G Cd274 CD274 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:22396772 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 4:152,423,103...152,474,651
Ensembl chr 4:152,423,108...152,474,651 		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 chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Crabp2 cellular retinoic acid binding protein II ISO CTD Direct Evidence: marker/mechanism CTD PMID:8400267 NCBI chr 3:87,856,000...87,860,679
Ensembl chr 3:87,855,973...87,860,683 		JBrowse link
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22904298 NCBI chr 5:109,702,575...109,707,301
Ensembl chr 5:109,702,575...109,706,859 		JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612 		JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34019859 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Ctsl cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO CTD Direct Evidence: therapeutic CTD PMID:22607768 NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328 		JBrowse link
G Cxcl13 C-X-C motif chemokine ligand 13 ISO CTD Direct Evidence: therapeutic CTD PMID:22607768 NCBI chr 5:96,104,785...96,108,927
Ensembl chr 5:96,104,810...96,108,927 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28112739 NCBI chr 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21554491 NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20079691 PMID:21638049 PMID:26124351 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21638049 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062074 NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146280 PMID:26124351 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Hcrt hypocretin ISO associated with nicotine dependence;protein:decreased expression :blood plasma (human) RGD PMID:30117237 RGD:401960073 NCBI chr11:100,652,519...100,653,757
Ensembl chr11:100,651,895...100,653,757 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27816970 NCBI chr 3:98,187,747...98,218,054
Ensembl chr 3:98,187,751...98,218,054 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23029095 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20131314 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25596746 NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,586 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr19:46,873,829...47,003,613
Ensembl chr19:46,871,756...47,003,592 		JBrowse link
G Pgr progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr 9:8,890,017...8,968,612
Ensembl chr 9:8,899,834...8,968,612 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20078871 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:189,460,417...189,608,892
Ensembl chr 1:189,460,465...189,608,892 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
G Top1 topoisomerase (DNA) I ISO CTD Direct Evidence: marker/mechanism CTD PMID:30132517 NCBI chr 2:160,487,901...160,564,684
Ensembl chr 2:160,487,808...160,564,684 		JBrowse link
G Top2a topoisomerase (DNA) II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20079691 PMID:22204715 PMID:30132517 NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015 		JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26124351 NCBI chr 8:54,530,567...54,639,489
Ensembl chr 8:54,530,641...54,640,131 		JBrowse link
G Yap1 yes-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		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 chr 5:120,751,182...120,766,657
Ensembl chr 5:120,750,804...120,766,657 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:28492532 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:35005812 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310 		JBrowse link
G Prmt7 protein arginine N-methyltransferase 7 ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426 		JBrowse link
G Ret ret proto-oncogene ISO DNA:SNP:exon 7:rs1800860 (human) RGD PMID:18820179 RGD:155641253 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
G Wnt9b wingless-type MMTV integration site family, member 9B ISO ClinVar Annotator: match by term: Renal hypoplasia ClinVar PMID:34145744 NCBI chr11:103,618,188...103,666,098
Ensembl chr11:103,618,190...103,640,647 		JBrowse link
renal tuberculosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4ra interleukin 4 receptor, alpha ISO protein:decreased expression:serum
DNA:polymorphism:cds:p.I50V (human)		 RGD PMID:21251883 PMID:19548368 RGD:5128510, RGD:7207069 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic		 OMIM
CTD
ClinVar		 PMID:19863561 PMID:29180244 NCBI chr 2:118,644,470...118,667,691
Ensembl chr 2:118,644,484...118,684,438 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 More... NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028 		JBrowse link
Seckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ataxia telangiectasia and Rad3 related susceptibility ISO
IMP		 DNA:point mutation:2101A>G (human)
ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 More... RGD:1599404, RGD:10053614 NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		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 chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
G Cep152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chr 2:125,391,784...125,467,081
Ensembl chr 2:125,405,008...125,467,033 		JBrowse link
G Pcnt pericentrin (kendrin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620 		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 cysteine-rich PDZ-binding protein 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 chr17:87,332,989...87,343,236
Ensembl chr17:87,332,978...87,343,238 		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 chr17:87,304,686...87,332,972
Ensembl chr17:87,304,684...87,332,834 		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 2:31,560,727...31,571,593
Ensembl chr 2:31,560,727...31,571,361 		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 polymerase (RNA) III (DNA directed) polypeptide G like ISO ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay OMIM
ClinVar		 PMID:25741868 PMID:31089205 PMID:31695177 NCBI chr 3:96,485,188...96,501,497
Ensembl chr 3:96,485,188...96,501,497 		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 9:106,156,177...106,227,721
Ensembl chr 9:106,158,260...106,227,720 		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 IMP RGD PMID:31141689 RGD:39128194 NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607 		JBrowse link
Silver-Russell Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Ins1 insulin I ISO ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 ClinVar PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chr19:52,252,735...52,253,453
Ensembl chr19:52,252,735...52,253,914 		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 chr11:69,234,099...69,260,325
Ensembl chr11:69,234,099...69,260,232 		JBrowse link
G Gm22442 predicted gene, 22442 ISO ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome ClinVar PMID:25741868 NCBI chr11:69,241,344...69,241,487
Ensembl chr11:69,241,344...69,241,487 		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 chr11:69,286,617...69,287,497
Ensembl chr11:69,286,313...69,287,506 		JBrowse link
Spinal Tuberculoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) RGD PMID:29795056 RGD:126928140 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		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-asssociated motor 16 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type OMIM
ClinVar		 PMID:24786642 PMID:27354339 PMID:28492532 NCBI chr16:4,434,330...4,442,810
Ensembl chr16:4,434,328...4,442,852 		JBrowse link
Stolerman neurodevelopmental syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm6b KDM1 lysine (K)-specific 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 chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501 		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 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr  X:68,403,796...68,915,660
Ensembl chr  X:68,403,900...68,911,643 		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 4:151,143,980...151,946,225
Ensembl chr 4:151,143,982...151,946,333 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 More... NCBI chr  X:150,583,779...150,718,413
Ensembl chr  X:150,583,803...150,718,413 		JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049 		JBrowse link
Thrombocytopenia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rap1b RAS related protein 1b 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 chr10:117,650,502...117,681,879
Ensembl chr10:117,649,776...117,681,940 		JBrowse link
Thrombocytopenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Thrombocytopenia 8, with dysmorphic features and developmental delay OMIM
ClinVar		 PMID:10411937 PMID:25255767 PMID:28492532 PMID:30315159 PMID:30733661 More... NCBI chr 5:142,888,870...142,892,509
Ensembl chr 5:142,888,870...142,892,509 		JBrowse link
trichohepatoenteric syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nelfe negative elongation factor complex member E, Rdbp ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar NCBI chr17:35,069,367...35,075,348
Ensembl chr17:35,069,367...35,075,348 		JBrowse link
G Skic2 SKI2 subunit of superkiller complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome		 CTD
ClinVar		 PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 More... NCBI chr17:35,058,202...35,069,180
Ensembl chr17:35,058,204...35,069,186 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 More... NCBI chr13:76,246,837...76,338,437
Ensembl chr13:76,246,853...76,338,435 		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 6:40,302,010...40,378,723
Ensembl chr 6:40,302,106...40,373,696 		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 chr13:76,246,837...76,338,437
Ensembl chr13:76,246,853...76,338,435 		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 chr17:35,058,202...35,069,180
Ensembl chr17:35,058,204...35,069,186 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 More... NCBI chr15:50,518,149...50,754,027
Ensembl chr15:50,518,148...50,753,859 		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 IEP RGD PMID:22698798 RGD:6767307 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility
no_association		 ISO DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) RGD PMID:20176143 PMID:17347014 RGD:9685035, RGD:9685036 NCBI chr17:34,573,763...34,588,466
Ensembl chr17:34,573,796...34,588,469 		JBrowse link
G Cbs cystathionine beta-synthase severity IMP
IEP		 protein:increased expression:macrophages (mouse) RGD PMID:31992699 PMID:31992699 RGD:40903052, RGD:40903052 NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 susceptibility ISO DNA:SNP: :rs159294, rs210837, rs10491110 (human) RGD PMID:19057661 RGD:4891408 NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to		 CTD
ClinVar		 PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More... NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 severity HEP associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human) RGD PMID:31276515 RGD:41404639 NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509 		JBrowse link
G Cd209a CD209a antigen ISO RGD PMID:21454357 PMID:18167547 RGD:5131181, RGD:5131186 NCBI chr 8:3,793,395...3,798,984
Ensembl chr 8:3,793,397...3,798,984 		JBrowse link
G Cd274 CD274 antigen ISO mRNA, protein:increased expression:blood, neutrophil RGD PMID:21509782 RGD:41412173 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Cd86 CD86 antigen IEP protein:increased expression:lung (mouse) RGD PMID:18292558 RGD:4892329 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		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 chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta IEP mRNA:increased expression:lung, spleen (mouse) RGD PMID:28558034 RGD:40903038 NCBI chr 2:167,530,835...167,532,352
Ensembl chr 2:167,530,835...167,532,338 		JBrowse link
G Ciita class II transactivator susceptibility IMP knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time RGD PMID:12828554 RGD:5491205 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282 		JBrowse link
G Cish cytokine inducible SH2-containing protein susceptibility ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:20484391 NCBI chr 9:107,173,858...107,179,983
Ensembl chr 9:107,173,225...107,179,983 		JBrowse link
G Coro1a coronin, actin binding protein 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16040207 NCBI chr 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 susceptibility ISO DNA:SNP:promoter:-251A>T (human)
protein:increased expression:blood plasma, erythrocyte (human)		 RGD PMID:32393145 PMID:26300588 RGD:150520198, RGD:11250849 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:19281538 RGD:5135308 NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938 		JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 treatment ISO associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human) RGD PMID:30239753 RGD:41412160 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049 		JBrowse link
G Cyp2b9 cytochrome P450, family 2, subfamily b, polypeptide 9 treatment ISO DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human) RGD PMID:28389387 RGD:41410886 NCBI chr 7:25,872,775...25,910,086
Ensembl chr 7:25,872,836...25,910,086 		JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 treatment ISO DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human) RGD PMID:27393733 RGD:124713542 NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519 		JBrowse link
G Ereg epiregulin susceptibility ISO DNA:SNP:intron: (rs7675690) (human) RGD PMID:22170233 RGD:39457686 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26829749 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05 RGD PMID:19030725 RGD:36049809 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism (human)
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-BRB1*10		 RGD PMID:21251479 PMID:19030725 PMID:17153701 RGD:5147605, RGD:36049809, RGD:5147633 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41 RGD PMID:19030725 RGD:36049809 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31 RGD PMID:19030725 RGD:36049809 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G Has1 hyaluronan synthase 1 IEP RGD PMID:19876387 RGD:9588638 NCBI chr17:18,063,588...18,075,450
Ensembl chr17:18,063,585...18,075,467 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Ifng interferon gamma ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 More... RGD:4144122 NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977 		JBrowse link
G Il12rb1 interleukin 12 receptor, beta 1 ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar PMID:9603733 PMID:12591909 PMID:28492532 NCBI chr 8:71,261,005...71,276,186
Ensembl chr 8:71,261,093...71,274,068 		JBrowse link
G Il15 interleukin 15 IEP mRNA:altered expression:lung, spleen RGD PMID:16367949 RGD:4987456 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851 		JBrowse link
G Il22 interleukin 22 ISO RGD PMID:21767990 RGD:5147402 NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952 		JBrowse link
G Il22b interleukin 22B ISO RGD PMID:21767990 RGD:5147402 NCBI chr10:118,125,534...118,130,943
Ensembl chr10:118,125,534...118,130,943 		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:26282876 PMID:25511588 RGD:11086047, RGD:126790514 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il33 interleukin 33 ISO associated with Pleural Effusion;protein:increased expression:pleural biopsy RGD PMID:25755791 RGD:40400701 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISO mRNA, protein:increased expression:sputum (human) RGD PMID:19535630 RGD:36049800 NCBI chr10:119,977,553...120,038,035
Ensembl chr10:119,977,553...120,038,035 		JBrowse link
G Irgm1 immunity-related GTPase family M member 1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr11:48,756,072...48,762,247
Ensembl chr11:48,752,795...48,762,510 		JBrowse link
G Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 susceptibility ISO DNA:deletion:cds RGD PMID:23073291 RGD:38676470 NCBI chr  X:135,418,748...135,435,055
Ensembl chr  X:135,418,748...135,435,058 		JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 treatment IMP
ISO		 RGD PMID:16619285 PMID:23922903 RGD:39018558, RGD:39128143 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827 		JBrowse link
G Mapkapk3 mitogen-activated protein kinase-activated protein kinase 3 ISO ClinVar Annotator: match by term: Tuberculosis, susceptibility to ClinVar PMID:20484391 NCBI chr 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 treatment ISO DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) RGD PMID:31586142 RGD:42722614 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP, haplotype: (rs16879814) RGD PMID:25919455 RGD:39456091 NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825 		JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:27865385 RGD:41412174 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IMP RGD PMID:30514491 RGD:38599199 NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 exacerbates IMP RGD PMID:29892302 RGD:127229926 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 susceptibility ISO DNA:insertion, polymorphism:3' utr:p.D543N (human)
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:16103355 PMID:16597321 PMID:25741868 PMID:19863441 PMID:15118671 RGD:5684931, RGD:1331525 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Sp110 Sp110 nuclear body protein ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More... NCBI chr 1:85,498,462...85,538,571
Ensembl chr 1:85,504,620...85,526,538 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15863395 RGD:1581371 NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 IMP RGD PMID:29791904 RGD:39128196 NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607 		JBrowse link
G Tirap toll-interleukin 1 receptor (TIR) domain-containing adaptor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to		 CTD
OMIM
ClinVar		 PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 NCBI chr 9:35,095,687...35,111,587
Ensembl chr 9:35,095,847...35,111,587 		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 5:65,082,023...65,090,945
Ensembl chr 5:65,082,022...65,090,906 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868 PMID:28492532 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr4 toll-like receptor 4 IMP RGD PMID:12218133 RGD:4144821 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:missense mutations:cds:multiple (human) RGD PMID:18091991 RGD:7246918 NCBI chr 5:65,109,373...65,128,387
Ensembl chr 5:65,109,374...65,117,440 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20537163 RGD:4143229 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO DNA:snp:3' utr:g.*215C>T rs3397 (human) RGD PMID:20007930 RGD:5131209 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30202016 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO associated with HIV Infections;DNA:SNPs:3' UTR (human) RGD PMID:18712587 RGD:4889839 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		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 chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		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 CTD Direct Evidence: marker/mechanism
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		 CTD
OMIM
ClinVar		 PMID:1189319 PMID:9536098 PMID:16199547 PMID:16341802 PMID:17576681 More... NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		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 chr14:30,982,332...31,045,926
Ensembl chr14:30,982,332...31,045,853 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:24763289 More... NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Pms2 PMS1 homolog2, 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 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		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 protein 4 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 6:115,817,658...115,830,361
Ensembl chr 6:115,817,658...115,830,332 		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 chr11:97,576,291...97,579,451
Ensembl chr11:97,576,652...97,579,447 		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 chr11:97,579,647...97,593,260
Ensembl chr11:97,579,649...97,591,323 		JBrowse link
urofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpse2 heparanase 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ochoa syndrome
OMIM:236730 | OMIM:615112		 CTD
ClinVar
MouseDO		 PMID:16199547 PMID:20560209 PMID:20560210 PMID:25145936 PMID:25510506 More... NCBI chr19:42,774,980...43,376,913
Ensembl chr19:42,774,978...43,376,794 		JBrowse link
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:104,361,296...104,419,251
Ensembl chr 3:104,303,734...104,419,234 		JBrowse link
Urofacial Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpse2 heparanase 2 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 chr19:42,774,980...43,376,913
Ensembl chr19:42,774,978...43,376,794 		JBrowse link
Urofacial Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 ISO ClinVar Annotator: match by term: Urofacial syndrome 2 OMIM
ClinVar		 PMID:23313374 PMID:25741868 NCBI chr 3:104,361,296...104,419,251
Ensembl chr 3:104,303,734...104,419,234 		JBrowse link
Uruguay faciocardiomusculoskeletal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Uruguay Faciocardiomusculoskeletal syndrome OMIM
ClinVar		 PMID:11102932 PMID:19716112 PMID:24634512 PMID:25741868 PMID:26467025 More... NCBI chr  X:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:24140112 PMID:25741868 PMID:27804958 PMID:28074499 More... NCBI chr15:75,942,031...75,954,386
Ensembl chr15:75,942,031...75,952,773 		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 9:108,394,010...108,437,366
Ensembl chr 9:108,394,005...108,437,362 		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 chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:150,799,386...150,844,969
Ensembl chr  X:150,799,424...150,845,690 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Pathologic Processes 7725
        Disease Attributes 833
          Acute Disease 0
          Asymptomatic Diseases + 0
          Catastrophic Illness 0
          Chronic Disease + 1
          Convalescence 0
          Critical Illness 6
          Disease Progression + 215
          Disease Resistance 0
          Disease Susceptibility + 183
          Diseases in Twins 0
          Emergencies 0
          Facies + 440
          Iatrogenic Disease + 1
          Late Onset Disorders 0
          Neglected Diseases 0
          Rare Diseases 0
          Recurrence + 41
          Undiagnosed Diseases 0
paths to the root