Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Eye Abnormalities
go back to main search page
Accession:DOID:9008296 term browser browse the term
Definition:Congenital absence of or defects in structures of the eye; may also be hereditary.
Synonyms:exact_synonym: Eye Abnormality
 primary_id: MESH:D005124;   RDO:0000705
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Eye Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apaf1 apoptotic peptidase activating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9753320 NCBI chr10:90,989,311...91,082,743
Ensembl chr10:90,989,311...91,082,770 		JBrowse link
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938888 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor, type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr14:34,411,061...34,503,336
Ensembl chr14:34,410,734...34,503,341 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor, type 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr 3:141,837,135...142,169,585
Ensembl chr 3:141,837,136...142,169,425 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20385946 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO DNA:splicing error RGD PMID:16431952 RGD:1600694 NCBI chr 1:45,374,331...45,503,282
Ensembl chr 1:45,374,321...45,503,282 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr12:36,380,575...36,689,503
Ensembl chr12:36,381,450...36,689,503 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23221805 NCBI chr 4:82,897,920...83,052,506
Ensembl chr 4:82,897,920...83,052,339 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 6:115,853,379...115,926,699
Ensembl chr 6:115,853,470...115,926,699 		JBrowse link
G Jag1 jagged 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207787 PMID:9207788 PMID:12022040 NCBI chr 2:137,081,451...137,116,520
Ensembl chr 2:137,081,456...137,116,644 		JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16020517 NCBI chr18:60,684,494...60,749,035
Ensembl chr18:60,684,494...60,748,650 		JBrowse link
G Pax6 paired box 6 ISO RGD PMID:10441571, PMID:12721955 RGD:1601210, RGD:1601211 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr11:32,347,773...32,428,189
Ensembl chr11:32,347,820...32,428,173 		JBrowse link
G Shh sonic hedgehog ISO CTD Direct Evidence: marker/mechanism CTD PMID:24973920 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO DNA:mutations: :multiple
DNA:missense mutation: :p.D123G (human)		 RGD PMID:19921648, PMID:19471311 RGD:8661660, RGD:8661661 NCBI chr 3:34,649,995...34,652,461
Ensembl chr 3:34,650,405...34,652,461 		JBrowse link
G Tfap2a transcription factor AP-2, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chr13:40,713,802...40,738,238
Ensembl chr13:40,715,302...40,738,376 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr 1:186,622,787...186,709,697
Ensembl chr 1:186,622,792...186,705,989 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr 9:116,087,695...116,175,363
Ensembl chr 9:116,084,293...116,175,360 		JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr 2:150,680,702...150,689,137
Ensembl chr 2:150,680,702...150,689,360 		JBrowse link
3MC syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,892,015...22,899,451
Ensembl chr16:22,891,277...22,899,449 		JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr12:28,594,172...28,623,458
Ensembl chr12:28,594,173...28,623,377 		JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,805,203...22,811,410
Ensembl chr16:22,805,203...22,811,577 		JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,857,845...22,879,634
Ensembl chr16:22,857,845...22,879,634 		JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:23,107,468...23,114,132
Ensembl chr16:23,107,444...23,114,136 		JBrowse link
G Fetub fetuin beta ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,918,382...22,939,768
Ensembl chr16:22,918,334...22,939,778 		JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,951,072...22,961,659
Ensembl chr16:22,951,072...22,961,656 		JBrowse link
G Kng2 kininogen 2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,985,852...23,029,101
Ensembl chr16:22,985,854...23,029,482 		JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by OMIM:257920
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 PMID:25741868 PMID:28492532 PMID:28794230 PMID:29407414 NCBI chr16:23,451,785...23,521,240
Ensembl chr16:23,449,417...23,520,815 		JBrowse link
G Rfc4 replication factor C (activator 1) 4 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:23,113,948...23,127,730
Ensembl chr16:23,113,943...23,127,737 		JBrowse link
G Rpl39l ribosomal protein L39-like ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:10,170,197...10,174,911
Ensembl chr16:10,170,226...10,174,911 		JBrowse link
G Rtp1 receptor transporter protein 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:23,429,133...23,433,960
Ensembl chr16:23,429,133...23,433,960 		JBrowse link
G Snora81 small nucleolar RNA, H/ACA box 81 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:23,110,770...23,110,933
Ensembl chr16:23,110,756...23,110,933 		JBrowse link
G St6gal1 beta galactoside alpha 2,6 sialyltransferase 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:23,224,729...23,360,350
Ensembl chr16:23,224,740...23,360,350 		JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr16:22,813,214...22,857,695
Ensembl chr16:22,813,214...22,857,669 		JBrowse link
ablepharon macrostomia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist basic helix-loop-helix transcription factor 2 ISO ClinVar Annotator: match by term: Ablepharon macrostomia syndrome OMIM
ClinVar		 PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 PMID:21595001 PMID:25741868 PMID:26119818 NCBI chr 1:91,801,461...91,848,034
Ensembl chr 1:91,801,461...91,848,028 		JBrowse link
aniridia 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: Aniridia ClinVar NCBI chr 3:127,666,718...127,780,547
Ensembl chr 3:127,670,310...127,780,527 		JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:126,921,607...127,500,347
Ensembl chr 3:126,921,612...127,499,350 		JBrowse link
G Ap1ar adaptor-related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,807,007...127,837,523
Ensembl chr 3:127,807,007...127,837,523 		JBrowse link
G Arsj arylsulfatase J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:126,363,852...126,440,374
Ensembl chr 3:126,363,684...126,440,375 		JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II, delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:126,595,487...126,846,326
Ensembl chr 3:126,596,302...126,846,326 		JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:105,966,708...106,003,549
Ensembl chr 2:105,966,709...106,003,549 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564 		JBrowse link
G Fam241a family with sequence similarity 241, member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,869,688...127,896,323
Ensembl chr 3:127,869,058...127,896,324 		JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr19:28,258,851...28,680,265
Ensembl chr19:28,258,851...28,680,077 		JBrowse link
G Gm9342 predicted gene 9342 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:106,038,218...106,053,528 JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr13:31,819,583...32,338,762
Ensembl chr13:31,819,579...32,338,740 		JBrowse link
G Immp1l IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:105,904,638...105,965,558
Ensembl chr 2:105,904,638...105,965,558 		JBrowse link
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr15:90,933,275...91,050,382
Ensembl chr15:90,933,276...91,049,948 		JBrowse link
G Larp7 La ribonucleoprotein domain family, member 7 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,536,714...127,553,349
Ensembl chr 3:127,536,714...127,553,349 		JBrowse link
G LOC105980007 RB enhancer downstream of Pax6 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,832,243...105,834,443 JBrowse link
G LOC106003270 enhancer region in intron 7 of Pax6 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,686,653...105,691,253 JBrowse link
G LOC106007492 enhancer in intron 4 of Pax6 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,681,727...105,682,853 JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Absent iris ClinVar NCBI chr 2:105,660,253...105,676,053 JBrowse link
G Mir302a microRNA 302a ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,545,496...127,545,564
Ensembl chr 3:127,545,496...127,545,564 		JBrowse link
G Mir302b microRNA 302b ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,545,228...127,545,301
Ensembl chr 3:127,545,228...127,545,301 		JBrowse link
G Mir302c microRNA 302c ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,545,363...127,545,430
Ensembl chr 3:127,545,363...127,545,430 		JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,545,624...127,545,689
Ensembl chr 3:127,545,624...127,545,689 		JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,545,733...127,545,807
Ensembl chr 3:127,545,733...127,545,807 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,632,733...127,635,636
Ensembl chr 3:127,633,135...127,635,631 		JBrowse link
G Pax6 paired box 6 susceptibility ISO
IEA
IMP
IAGP		 DNA:mutations:exon, intron:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:106210
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by OMIM:106210
ClinVar Annotator: match by term: Aniridia, atypical
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:nonsense mutation:cds:p.R240X (human)
DNA:deletion:cds:p.Q297HfsX68 (human)
DNA:deletion:cds:p.R38PfsX12 (human)
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)		 CTD
MouseDO
ClinVar		 PMID:9931324 PMID:17417613 PMID:18322702 PMID:18776953 PMID:25741868 PMID:30221735, PMID:9138149, PMID:25366758, PMID:22550392, PMID:22393272, PMID:16080917, PMID:16303964, PMID:19862335, PMID:22815628, PMID:22171157, PMID:20664694, PMID:23734086 RGD:1601209, RGD:12790966, RGD:8552301, RGD:8552277, RGD:8552246, RGD:8551879, RGD:8551870, RGD:8551860, RGD:8551859, RGD:8551858, RGD:8551856 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
G Pax6drr Pax6 downstream regulatory region ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,778,443...105,799,843 JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:34,649,995...34,652,461
Ensembl chr 3:34,650,405...34,652,461 		JBrowse link
G Sox2ot SOX2 overlapping transcript (non-protein coding) ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:34,560,381...34,677,993
Ensembl chr 3:34,104,270...34,682,619 		JBrowse link
G Tifa TRAF-interacting protein with forkhead-associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,788,875...127,798,394
Ensembl chr 3:127,789,805...127,832,164 		JBrowse link
G Trim44 tripartite motif-containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:102,300,119...102,400,900
Ensembl chr 2:102,300,119...102,407,828 		JBrowse link
G Wt1 Wilms tumor 1 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616 		JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,553,396...127,618,023
Ensembl chr 3:127,553,489...127,618,023 		JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:105,966,708...106,003,549
Ensembl chr 2:105,966,709...106,003,549 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 PMID:17630404 PMID:18483559 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 PMID:27431685 PMID:28321846 PMID:28492532 PMID:29618921 NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564 		JBrowse link
G Gm9342 predicted gene 9342 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:106,038,218...106,053,528 JBrowse link
G Immp1l IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:105,904,638...105,965,558
Ensembl chr 2:105,904,638...105,965,558 		JBrowse link
G LOC106003270 enhancer region in intron 7 of Pax6 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:105,686,653...105,691,253 JBrowse link
G LOC106007492 enhancer in intron 4 of Pax6 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:105,681,727...105,682,853 JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:25741868 NCBI chr 2:105,660,253...105,676,053 JBrowse link
G LOC107983946 Wt1 promoter region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:23349334 PMID:25741868 PMID:28492532 NCBI chr 2:105,126,016...105,126,782 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Aniridia 1
ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy		 OMIM
ClinVar		 PMID:1251879 PMID:1302030 PMID:1954207 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9482572 PMID:9651515 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15086958 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16493447 PMID:16712695 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17595013 PMID:17630404 PMID:18241071 PMID:18483559 PMID:18776953 PMID:19218613 PMID:19862335 PMID:19876904 PMID:19898691 PMID:20054790 PMID:20577777 PMID:21397818 PMID:21423868 PMID:21848007 PMID:21850189 PMID:22171686 PMID:22361317 PMID:22509105 PMID:22692063 PMID:23734086 PMID:23761016 PMID:24138039 PMID:24390526 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26535646 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27081502 PMID:27124303 PMID:27307692 PMID:27431685 PMID:27455012 PMID:27463523 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29217025 PMID:29618921 PMID:29780932 PMID:32860008 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
G Pax6drr Pax6 downstream regulatory region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:18483559 PMID:24290376 PMID:28492532 NCBI chr 2:105,778,443...105,799,843 JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:105,385,948...105,399,319
Ensembl chr 2:105,386,291...105,399,319 		JBrowse link
G Wt1 Wilms tumor 1 homolog ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729 PMID:9090524 PMID:17630404 PMID:23349334 PMID:24138039 PMID:25741868 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616 		JBrowse link
Aniridia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO OMIM NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564 		JBrowse link
Aniridia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim44 tripartite motif-containing 44 ISO ClinVar Annotator: match by term: ANIRIDIA 3 ClinVar
OMIM		 PMID:26394807 NCBI chr 2:102,300,119...102,400,900
Ensembl chr 2:102,300,119...102,407,828 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO
IEA		 ClinVar Annotator: match by term: AEC syndrome
ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate
OMIM:106260
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102 		JBrowse link
Anophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr 2:105,660,253...105,676,053 JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar PMID:29178648 NCBI chr14:48,656,781...48,667,644
Ensembl chr14:48,657,677...48,673,819 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:15789424 NCBI chr18:65,934,639...65,939,089
Ensembl chr18:65,928,277...65,939,787 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO DNA:nonsense mutations: :multiple
CTD Direct Evidence: marker/mechanism		 CTD PMID:21532573, PMID:12612584 RGD:1599088 NCBI chr 3:34,649,995...34,652,461
Ensembl chr 3:34,650,405...34,652,461 		JBrowse link
G Stra6 stimulated by retinoic acid gene 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 9:58,063,793...58,154,004
Ensembl chr 9:58,063,788...58,153,996 		JBrowse link
anterior segment dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 17 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 7:66,839,699...67,153,171
Ensembl chr 7:66,839,735...67,153,171 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:32499604 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis		 CTD
ClinVar		 PMID:9497261 PMID:11403040 PMID:11527932 PMID:12036985 PMID:17591938 PMID:18852424 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:24940937 PMID:25741868 PMID:27243976 PMID:27272408 PMID:27508083 PMID:27820421 PMID:28192799 PMID:28448622 PMID:28492532 PMID:32499604 PMID:32832252 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Anterior segment anomalies and cataract ClinVar PMID:10655545 NCBI chr 1:14,168,953...14,311,035
Ensembl chr 1:14,168,954...14,310,235 		JBrowse link
G Foxc1 forkhead box C1 IMP
ISO		 ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604, PMID:10767326 RGD:8662365 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476 		JBrowse link
G Foxe3 forkhead box E3 ISO DNA:insertion:cds:c.943_944insG (human)
ClinVar Annotator: match by term: Anterior segment dysgenesis		 ClinVar PMID:16826526 PMID:20361012 PMID:32499604, PMID:11159941 RGD:1598957 NCBI chr 4:114,924,443...114,926,067
Ensembl chr 4:114,925,147...114,926,013 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 3:96,913,566...96,926,051
Ensembl chr 3:96,913,566...96,926,020 		JBrowse link
G Gm7298 predicted gene 7298 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis		 CTD
ClinVar		 PMID:27839872 PMID:32499604 NCBI chr 6:121,734,495...121,784,639
Ensembl chr 6:121,732,932...121,789,084 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr 6:108,213,083...108,551,116
Ensembl chr 6:108,213,096...108,551,109 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Anterior segment mesenchymal dysgenesis
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1		 ClinVar PMID:7581385 PMID:9437321 PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28492532 PMID:32499604 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591 		JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 ISO
IEA		 DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD		 PMID:9620774 PMID:18989383, PMID:18989383 RGD:11535067 NCBI chr19:46,135,281...46,148,325
Ensembl chr19:46,135,685...46,148,326 		JBrowse link
G Pxdn peroxidasin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis		 CTD
ClinVar		 PMID:32499604 NCBI chr12:29,936,642...30,017,658
Ensembl chr12:29,937,608...30,017,658 		JBrowse link
G Tsc1 TSC complex subunit 1 IEA MouseDO NCBI chr 2:28,640,993...28,691,172
Ensembl chr 2:28,641,228...28,691,167 		JBrowse link
anterior segment dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:17893665 PMID:27218149 PMID:28492532 NCBI chr 4:114,924,443...114,926,067
Ensembl chr 4:114,925,147...114,926,013 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591 		JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES
ClinVar Annotator: match by term: Anterior segment dysgenesis 1		 ClinVar
OMIM		 PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 PMID:18989383 PMID:21836522 PMID:24555714 PMID:28492532 NCBI chr19:46,135,281...46,148,325
Ensembl chr19:46,135,685...46,148,326 		JBrowse link
anterior segment dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO OMIM NCBI chr 4:114,924,443...114,926,067
Ensembl chr 4:114,925,147...114,926,013 		JBrowse link
anterior segment dysgenesis 3 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: Anterior segment dysgenesis 3
ClinVar Annotator: match by term: Iridogoniodysgenesis type1
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:19668217 PMID:19793056 PMID:25741868 PMID:28492532 PMID:32832252 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476 		JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4
ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type
ClinVar Annotator: match by OMIM:137600		 OMIM
ClinVar
CTD		 PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28492532 PMID:32499604 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591 		JBrowse link
anterior segment dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:10655546 PMID:11403040 PMID:11774072 PMID:11980847 PMID:12036985 PMID:14507861 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:22004014 PMID:23028769 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27820421 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 PMID:32499604 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:21931569 PMID:26893459 NCBI chr 4:82,897,920...83,052,506
Ensembl chr 4:82,897,920...83,052,339 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar NCBI chr 2:105,660,253...105,676,053 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE TYPES
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE		 OMIM
ClinVar		 PMID:1251879 PMID:1954207 PMID:6988567 PMID:9651515 PMID:10441571 PMID:14561779 PMID:25741868 PMID:28492532 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591 		JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Anterior segment dysgenesis 6		 ClinVar
OMIM		 PMID:11403040 PMID:12036985 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25741868 PMID:27820421 PMID:28492532 PMID:32499604 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061 		JBrowse link
anterior segment dysgenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 7
ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES		 OMIM
ClinVar		 PMID:21474777 PMID:21907015 PMID:24939590 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr12:29,936,642...30,017,658
Ensembl chr12:29,937,608...30,017,658 		JBrowse link
anterior segment dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm7298 predicted gene 7298 ISO OMIM NCBI chr 6:121,734,495...121,784,639
Ensembl chr 6:121,732,932...121,789,084 		JBrowse link
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smchd1 SMC hinge domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arhinia choanal atresia microphthalmia		 CTD
ClinVar
OMIM		 PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 PMID:11321738 PMID:16353241 PMID:23143600 PMID:23432817 PMID:23852095 PMID:25741868 PMID:26440771 PMID:26842768 PMID:28067909 PMID:28067911 NCBI chr17:71,344,489...71,475,366
Ensembl chr17:71,344,489...71,475,343 		JBrowse link
autosomal dominant isolated ectopia lentis 1 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: Ectopia lentis, isolated, autosomal dominant OMIM
ClinVar		 PMID:2005308 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7738200 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8136837 PMID:8188302 PMID:8281141 PMID:8430317 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8941093 PMID:8988160 PMID:9150726 PMID:9338581 PMID:9338588 PMID:9399842 PMID:9401003 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10229672 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10633129 PMID:10679954 PMID:10694921 PMID:10930463 PMID:11068200 PMID:11139245 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11780406 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12651868 PMID:12938084 PMID:14598350 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22539873 PMID:22772377 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23794388 PMID:23897642 PMID:24033266 PMID:24039054 PMID:24055113 PMID:24161884 PMID:24311428 PMID:24564502 PMID:24635535 PMID:24665001 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26026792 PMID:26188975 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26621581 PMID:26684006 PMID:26787436 PMID:26875674 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27930701 PMID:28050602 PMID:28098115 PMID:28254189 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28941062 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30341550 PMID:30675029 PMID:30739908 PMID:31008308 PMID:31163209 PMID:31211626 PMID:31506931 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant ClinVar PMID:23218701 PMID:23401661 PMID:28492532 NCBI chr12:84,783,212...84,876,558
Ensembl chr12:84,783,212...84,876,532 		JBrowse link
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO
IEA		 ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive
ClinVar Annotator: match by term: Ectopia lentis, isolated autosomal recessive
OMIM:225100		 OMIM
ClinVar
MouseDO		 PMID:2056446 PMID:2377351 PMID:19200529 PMID:20141359 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 3:95,676,201...95,687,927
Ensembl chr 3:95,676,201...95,687,917 		JBrowse link
Axenfeld-Rieger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen, type IV, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17696175 PMID:20385946 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826 		JBrowse link
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr12:71,309,884...71,320,107
Ensembl chr12:71,309,884...71,320,107 		JBrowse link
G Foxc1 forkhead box C1 ISO DNA:mutation:cds:272T>C,p.I91T(human)
DNA:mutation:cds:p.Q120X(human)
DNA:mutation:cds:p.F112S(human)		 RGD PMID:15477465, PMID:18498376, PMID:12614756 RGD:12904042, RGD:12904045, RGD:12904044 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr 5:96,373,777...96,784,733
Ensembl chr 5:96,373,955...96,784,728 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Iridogoniodysgenesis with somatic anomalies ClinVar PMID:21931569 PMID:26893459 NCBI chr 4:82,897,920...83,052,506
Ensembl chr 4:82,897,920...83,052,339 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger Syndrome
ClinVar Annotator: match by term: Rieger syndrome
DNA:missense mutation: :p.G137V (g.20913G>T) (human)
DNA:point mutation:exon:p.W86C (c.840G>T) (human)		 ClinVar PMID:25741868, PMID:16876867, PMID:19052653 RGD:12910560, RGD:12910558 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 PMID:28492532 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598 		JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476 		JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 IEA OMIM:180500 MouseDO NCBI chr 4:133,964,739...133,967,991
Ensembl chr 4:133,964,738...133,968,650 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IEA		 ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500		 OMIM
ClinVar
MouseDO
CTD		 PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:20881294 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29100920 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591 		JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,777,656...65,937,622
Ensembl chr 6:65,778,988...65,937,010 		JBrowse link
Axenfeld-Rieger syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2610028H24Rik RIKEN cDNA 2610028H24 gene ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,449,049...76,461,218
Ensembl chr10:76,449,081...76,461,110 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:77,290,727...77,418,292
Ensembl chr10:77,290,726...77,418,270 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEA OMIM:602482 MouseDO NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:77,052,178...77,166,530
Ensembl chr10:77,052,178...77,166,548 		JBrowse link
G Col6a1 collagen, type VI, alpha 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,708,792...76,726,044
Ensembl chr10:76,708,792...76,726,168 		JBrowse link
G Col6a2 collagen, type VI, alpha 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,595,756...76,623,630
Ensembl chr10:76,595,762...76,623,630 		JBrowse link
G Dip2a disco interacting protein 2 homolog A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,263,034...76,345,360
Ensembl chr10:76,259,429...76,345,291 		JBrowse link
G Fam207a family with sequence similarity 207, member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:77,486,655...77,516,924
Ensembl chr10:77,486,661...77,515,785 		JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3
ClinVar Annotator: match by OMIM:602482		 OMIM
ClinVar		 PMID:9326342 PMID:9620769 PMID:9792859 PMID:10713890 PMID:11170889 PMID:11589884 PMID:11740218 PMID:11782474 PMID:12592227 PMID:12614756 PMID:14506133 PMID:16638984 PMID:16936096 PMID:17197537 PMID:17210863 PMID:18498376 PMID:19668217 PMID:19793056 PMID:20881294 PMID:22382802 PMID:23239455 PMID:24914578 PMID:25741868 PMID:25786029 PMID:25967385 PMID:27124303 PMID:28432732 PMID:28492532 PMID:28513611 PMID:28979898 PMID:30457409 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476 		JBrowse link
G Ftcd formiminotransferase cyclodeaminase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,575,648...76,590,338
Ensembl chr10:76,575,648...76,590,338 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,531,565...76,557,139
Ensembl chr10:76,531,588...76,557,138 		JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,468,902...76,515,859
Ensembl chr10:76,468,927...76,515,857 		JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,761,854...76,962,117
Ensembl chr10:76,761,857...76,961,887 		JBrowse link
G Pcnt pericentrin (kendrin) ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,351,254...76,442,912
Ensembl chr10:76,351,263...76,442,786 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Anterior segment mesenchymal dysgenesis ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591 		JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:77,259,081...77,269,586
Ensembl chr10:77,259,218...77,269,575 		JBrowse link
G Prmt2 protein arginine N-methyltransferase 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,207,226...76,237,865
Ensembl chr10:76,207,222...76,237,865 		JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,253,836...76,261,319
Ensembl chr10:76,253,853...76,261,159 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:77,032,269...77,050,432
Ensembl chr10:77,032,241...77,061,002 		JBrowse link
G Spatc1l spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,561,993...76,570,201
Ensembl chr10:76,562,272...76,570,201 		JBrowse link
G Ybey ybeY metallopeptidase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr10:76,457,252...76,469,114
Ensembl chr10:76,459,567...76,469,114 		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 ISS
ISO		 OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome		 MouseDO
ClinVar		 PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532 NCBI chr 5:142,903,115...142,907,976
Ensembl chr 5:142,903,115...142,906,754 		JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr11:120,345,687...120,348,495
Ensembl chr11:120,345,690...120,348,542 		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: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by OMIM:243310		 OMIM
ClinVar		 PMID:1415343 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:18414213 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29220674 PMID:29261186 PMID:32860008 NCBI chr 5:142,903,115...142,907,976
Ensembl chr 5:142,903,115...142,906,754 		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: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by OMIM:614583		 OMIM
ClinVar		 PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 NCBI chr11:120,345,687...120,348,495
Ensembl chr11:120,345,690...120,348,542 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM		 PMID:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 NCBI chr 7:44,876,765...44,892,705
Ensembl chr 7:44,876,765...44,892,712 		JBrowse link
blepharophimosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT rich interactive domain 1B (SWI-like) ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:23806086 PMID:24088041 PMID:24674232 NCBI chr17:4,994,297...5,347,656
Ensembl chr17:4,994,332...5,347,656 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing 1 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr  X:151,800,785...151,935,417
Ensembl chr  X:151,800,807...151,935,417 		JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr14:21,499,216...21,672,478
Ensembl chr14:21,481,434...21,672,478 		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 ClinVar PMID:25741868 NCBI chr19:26,605,073...26,778,321
Ensembl chr19:26,605,050...26,778,322 		JBrowse link
G Snx9 sorting nexin 9 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr17:5,841,324...5,931,956
Ensembl chr17:5,841,329...5,931,954 		JBrowse link
G Tmem242 transmembrane protein 242 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr17:5,410,864...5,440,260
Ensembl chr17:5,410,870...5,440,259 		JBrowse link
G Zdhhc14 zinc finger, DHHC domain containing 14 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr17:5,492,562...5,753,891
Ensembl chr17:5,492,557...5,753,811 		JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868 NCBI chr 9:98,955,607...98,958,126
Ensembl chr 9:98,955,288...98,958,543 		JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 2 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:18372316 PMID:21325395 PMID:25741868 NCBI chr 9:98,955,607...98,958,126
Ensembl chr 9:98,955,288...98,958,543 		JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 coatomer protein complex, subunit beta 2 (beta prime) ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 9:98,563,731...98,588,375
Ensembl chr 9:98,563,721...98,588,382 		JBrowse link
G E330023G01Rik RIKEN cDNA E330023G01 gene IEA OMIM:110100 MouseDO NCBI chr 9:98,748,599...98,820,087
Ensembl chr 9:98,748,599...98,820,087 		JBrowse link
G Foxl2 forkhead box L2 ISO
IEA		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar Annotator: match by term: BPES with Duane retraction syndrome
ClinVar Annotator: match by term: BPES with ovarian failure
ClinVar Annotator: match by term: BPES without ovarian failure
CTD Direct Evidence: marker/mechanism
OMIM:110100
ClinVar Annotator: match by OMIM:110100		 ClinVar
CTD
MouseDO
OMIM		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:19429596 PMID:25741868, PMID:11175783 RGD:1598958 NCBI chr 9:98,955,607...98,958,126
Ensembl chr 9:98,955,288...98,958,543 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 9:98,588,730...98,601,679
Ensembl chr 9:98,588,730...98,601,660 		JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664 NCBI chr14:21,676,565...21,714,576
Ensembl chr14:21,676,537...21,714,576 		JBrowse link
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: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736		 ClinVar
OMIM		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28758091 PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr14:21,499,216...21,672,478
Ensembl chr14:21,481,434...21,672,478 		JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB		 ClinVar PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 NCBI chr 2:118,926,497...118,928,585
Ensembl chr 2:118,926,496...118,928,585 		JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility		 ClinVar PMID:28492532 NCBI chr 6:65,777,656...65,937,622
Ensembl chr 6:65,778,988...65,937,010 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by OMIM:229200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 NCBI chr 8:122,043,123...122,272,650
Ensembl chr 8:122,258,620...122,272,650 		JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2
ClinVar Annotator: match by OMIM:614170
ClinVar Annotator: match by This custom term has been created by RGD curators.		 OMIM
ClinVar		 PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 NCBI chr 6:65,777,656...65,937,622
Ensembl chr 6:65,778,988...65,937,010 		JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 susceptibility ISO
IEA
IMP		 ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar Annotator: match by term: Glaucoma, congenital
ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
ClinVar Annotator: match by term: Congenital glaucoma
OMIM:231300
ClinVar Annotator: match by OMIM:231300
DNA:missense mutation:cds:p.A388T (human)
DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human)
DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)
DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)		 OMIM
ClinVar
MouseDO		 PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:24940937 PMID:25091052 PMID:25109919 PMID:25333069 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550974 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 PMID:32499604 PMID:32832252 PMID:32860008 PMID:94927261, PMID:16490498, PMID:19247456, PMID:12567107, PMID:19597567, PMID:19593207, PMID:20664688, PMID:10227395, PMID:23922489, PMID:12624268 RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061 		JBrowse link
G Foxc1 forkhead box C1 IEA OMIM:231300 MouseDO NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma, congenital ClinVar PMID:19656777 NCBI chr12:84,783,212...84,876,558
Ensembl chr12:84,783,212...84,876,532 		JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic ClinVar PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:17563717 PMID:22194650 PMID:22736945 NCBI chr 1:162,639,150...162,649,694
Ensembl chr 1:162,639,155...162,649,693 		JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar NCBI chr17:79,578,596...79,684,976
Ensembl chr17:79,611,863...79,693,192 		JBrowse link
G Tyr tyrosinase IEA OMIM:231300 MouseDO NCBI chr 7:87,424,771...87,493,512
Ensembl chr 7:87,424,771...87,493,512 		JBrowse link
cataract 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: CATARACT 40 WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by OMIM:302200		 OMIM
ClinVar		 PMID:19414485 PMID:25741868 NCBI chr  X:161,833,290...162,159,441
Ensembl chr  X:161,833,296...162,159,730 		JBrowse link
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked ClinVar PMID:23176820 PMID:25326635 PMID:25741868 PMID:25744623 PMID:26609730 PMID:27030146 PMID:28492532 PMID:29389947 NCBI chr  X:7,721,987...7,728,201
Ensembl chr  X:7,714,333...7,728,206 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: CHIME syndrome
ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
ClinVar Annotator: match by OMIM:280000		 OMIM
ClinVar		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 NCBI chr11:62,458,441...62,516,037
Ensembl chr11:62,458,460...62,514,417 		JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
ClinVar Annotator: match by OMIM:300863		 OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 NCBI chr  X:7,930,116...7,948,047
Ensembl chr  X:7,930,120...7,947,889 		JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 2:105,660,253...105,676,053 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr10:20,952,232...21,080,429
Ensembl chr10:20,952,547...21,080,429 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome ClinVar PMID:18414213 PMID:18950740 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28492532 NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis		 ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:23188109 PMID:25741868 PMID:26092869 PMID:28492532 PMID:29991045 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
ClinVar Annotator: match by term: COACH syndrome
DNA:missense mutations: :multiple
ClinVar Annotator: match by OMIM:216360		 ClinVar
CTD		 PMID:2929661 PMID:8862632 PMID:12368986 PMID:17160906 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 PMID:28497568 PMID:28973083, PMID:19574260, PMID:19058225 RGD:11535946, RGD:11535944 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
COACH Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:18950740 PMID:22241855 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28492532 NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: COACH SYNDROME 1 OMIM
ClinVar		 PMID:17397051 PMID:18414213 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
COACH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH SYNDROME 2 OMIM
ClinVar		 PMID:18950740 PMID:19574260 PMID:19777577 PMID:22246503 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972 		JBrowse link
COACH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH SYNDROME 3 OMIM
ClinVar		 PMID:19574260 PMID:26092869 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262 		JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsperd cation channel sperm associated auxiliary subunit delta ISO ClinVar Annotator: match by term: CODAS syndrome ClinVar PMID:25741868 NCBI chr17:56,626,911...56,664,456
Ensembl chr17:56,628,143...56,664,456 		JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: CODAS syndrome ClinVar
OMIM		 PMID:1887855 PMID:25574826 PMID:25741868 PMID:25741869 NCBI chr17:56,614,297...56,626,903
Ensembl chr17:56,614,297...56,626,887 		JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome		 CTD
ClinVar		 PMID:25741868 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253 		JBrowse link
G Sec24d Sec24 related gene family, member D (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:123,264,801...123,365,641
Ensembl chr 3:123,267,455...123,365,641 		JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase, beta polypeptide ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar		 PMID:25683117 PMID:25741868 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d Sec24 related gene family, member D (S. cerevisiae) ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar Annotator: match by term: Cole-carpenter syndrome 2		 OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:30462379 NCBI chr 3:123,264,801...123,365,641
Ensembl chr 3:123,267,455...123,365,641 		JBrowse link
coloboma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr 5:142,903,115...142,907,976
Ensembl chr 5:142,903,115...142,906,754 		JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr11:120,345,687...120,348,495
Ensembl chr11:120,345,690...120,348,542 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase family 7, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25004007 NCBI chr18:56,524,722...56,572,991
Ensembl chr18:56,509,687...56,572,951 		JBrowse link
G Bfsp1 beaded filament structural protein 1, in lens-CP94 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 PMID:28492532 NCBI chr 2:143,826,528...143,915,219
Ensembl chr 2:143,826,528...143,863,173 		JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr17:25,958,364...25,985,874
Ensembl chr17:25,958,364...25,985,796 		JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Coloboma ClinVar NCBI chr 4:70,216,855...70,410,435
Ensembl chr 4:70,216,856...70,410,443 		JBrowse link
G Cdon cell adhesion molecule-related/down-regulated by oncogenes ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar NCBI chr 9:35,421,528...35,507,652
Ensembl chr 9:35,421,128...35,507,652 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar Annotator: match by term: Coloboma of eye		 ClinVar PMID:9097971 PMID:10655546 PMID:11558822 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18470941 PMID:18622259 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:21854771 PMID:22004014 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25950505 PMID:25978063 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061 		JBrowse link
G Fibp fibroblast growth factor (acidic) intracellular binding protein ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:26660953 NCBI chr19:5,460,598...5,465,052
Ensembl chr19:5,460,615...5,465,051 		JBrowse link
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 PMID:26908622 NCBI chr 1:64,730,558...64,737,750
Ensembl chr 1:64,730,558...64,737,751 		JBrowse link
G Lamb1 laminin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18809619 NCBI chr12:31,265,146...31,329,644
Ensembl chr12:31,265,234...31,329,644 		JBrowse link
G Mab21l2 mab-21-like 2 ISO DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human) RGD PMID:25719200 RGD:11553846 NCBI chr 3:86,546,050...86,548,283
Ensembl chr 3:86,545,581...86,548,629 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by synonym: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT OMIM
ClinVar		 PMID:12721955 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
G Rbp4 retinol binding protein 4, plasma ISO ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:29178648 NCBI chr19:38,116,620...38,125,321
Ensembl chr19:38,116,629...38,125,281 		JBrowse link
G Sall2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Ocular coloboma, autosomal recessive ClinVar
OMIM		 PMID:24412933 NCBI chr14:52,311,177...52,328,670
Ensembl chr14:52,311,172...52,328,762 		JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 5:33,640,055...33,652,574
Ensembl chr 5:33,634,952...33,652,574 		JBrowse link
G Slc16a12 solute carrier family 16 (monocarboxylic acid transporters), member 12 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 NCBI chr19:34,668,401...34,747,493
Ensembl chr19:34,668,403...34,747,289 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar Annotator: match by term: Coloboma of eye		 ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr13:8,802,966...8,872,100
Ensembl chr13:8,802,968...8,871,909 		JBrowse link
G Yap1 yes-associated protein 1 ISO ClinVar Annotator: match by synonym: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:24462371 NCBI chr 9:7,931,999...8,004,638
Ensembl chr 9:7,931,999...8,004,596 		JBrowse link
coloboma of optic nerve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH (Asp-Glu-Ala-His) box polypeptide 37 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:31256877 NCBI chr 5:125,413,747...125,434,139
Ensembl chr 5:125,413,858...125,434,121 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:25741868 NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Coloboma of optic disc
ClinVar Annotator: match by OMIM:120430		 OMIM
ClinVar		 PMID:12721955 PMID:25741868 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanogenesis associated transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:27889061 NCBI chr 6:97,807,002...98,021,360
Ensembl chr 6:97,807,052...98,021,349 		JBrowse link
congenital aphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO
IEA		 ClinVar Annotator: match by term: Aphakia, congenital primary
ClinVar Annotator: match by term: Congenital primary aphakia
CTD Direct Evidence: marker/mechanism
OMIM:610256		 ClinVar
CTD
MouseDO		 PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:20361012 PMID:21150893 PMID:24033266 PMID:24033328 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:28492532 PMID:29136273 PMID:29878917 PMID:32499604 NCBI chr 4:114,924,443...114,926,067
Ensembl chr 4:114,925,147...114,926,013 		JBrowse link
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) IEP protein:decreased activity:kidney (mouse) RGD PMID:11014984 RGD:7207147 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869 		JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin (CD79A) binding protein 1 ISO ClinVar Annotator: match by OMIM:300472 OMIM
ClinVar		 PMID:14556245 NCBI chr  X:100,494,291...100,516,125
Ensembl chr  X:100,494,291...100,516,125 		JBrowse link
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome
ClinVar Annotator: match by OMIM:614195		 OMIM
ClinVar		 PMID:15051220 PMID:25741868 NCBI chr 2:150,680,702...150,689,137
Ensembl chr 2:150,680,702...150,689,360 		JBrowse link
cryptophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem2 Fras1 related extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Cryptophthalmos ClinVar PMID:25741868 NCBI chr 3:53,513,938...53,658,593
Ensembl chr 3:53,513,938...53,657,355 		JBrowse link
Desanto-Shinawi Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wac WW domain containing adaptor with coiled-coil ISO ClinVar Annotator: match by term: DESANTO-SHINAWI SYNDROME
ClinVar Annotator: match by term: Desanto-shinawi syndrome		 ClinVar
OMIM		 PMID:25741868 PMID:26264232 PMID:26757981 PMID:29190062 NCBI chr18:7,868,825...7,929,028
Ensembl chr18:7,868,832...7,929,028 		JBrowse link
Ectopia Lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis ClinVar PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 3:95,676,201...95,687,927
Ensembl chr 3:95,676,201...95,687,917 		JBrowse link
G Fbn1 fibrillin 1 ISO DNA:missense mutation:cds:p.R240C (human)
ClinVar Annotator: match by term: Ectopia lentis
DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:7611299 PMID:7870075 PMID:8653794 PMID:8723076 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9837823 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11700157 PMID:11992479 PMID:12402346 PMID:12938084 PMID:14695540 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:21895641 PMID:22772368 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24941995 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:28492532 PMID:29543232 PMID:31227806, PMID:15054843, PMID:22219643, PMID:22950452, PMID:15733436, PMID:22393277, PMID:26558191, PMID:8136837 RGD:1580380, RGD:12910481, RGD:12910479, RGD:12910140, RGD:12910138, RGD:12904906, RGD:1300363 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993 		JBrowse link
ectopia lentis with ectopia of pupil term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis et pupillae
ClinVar Annotator: match by OMIM:225200		 OMIM
ClinVar		 PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 3:95,676,201...95,687,927
Ensembl chr 3:95,676,201...95,687,917 		JBrowse link
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
ClinVar Annotator: match by OMIM:601552		 OMIM
ClinVar		 PMID:11241487 PMID:23687502 PMID:24768550 PMID:30194805 NCBI chr 4:9,449,085...9,669,344
Ensembl chr 4:9,448,069...9,669,344 		JBrowse link
exudative vitreoretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29207047 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123 		JBrowse link
G Fzd4 frizzled class receptor 4 IEA
ISO		 OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy		 MouseDO
ClinVar		 PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr 7:89,404,366...89,410,110
Ensembl chr 7:89,404,355...89,413,134 		JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 IEA
ISO		 OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 PMID:8832721 PMID:11719191 PMID:11956231 PMID:15024691 PMID:15824851 PMID:16252235 PMID:18602879 PMID:25711638 PMID:28041643 PMID:28492532 PMID:29181528 PMID:29207047 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564 		JBrowse link
G Ndp Norrie disease (pseudoglioma) (human) IEA OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 MouseDO NCBI chr  X:16,885,521...16,911,774
Ensembl chr  X:16,885,521...16,911,774 		JBrowse link
G Prss23 protease, serine 23 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr 7:89,507,783...89,527,187
Ensembl chr 7:89,507,783...89,527,187 		JBrowse link
G Tspan12 tetraspanin 12 IEA
ISO		 OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy		 MouseDO
ClinVar		 PMID:25250762 PMID:28041643 NCBI chr 6:21,771,391...21,879,596
Ensembl chr 6:21,771,395...21,852,515 		JBrowse link
G Zfp408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar NCBI chr 2:91,642,756...91,650,051
Ensembl chr 2:91,643,669...91,649,791 		JBrowse link
exudative vitreoretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc81 coiled-coil domain containing 81 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:89,866,148...89,903,629
Ensembl chr 7:89,866,148...89,903,629 		JBrowse link
G Ccdc83 coiled-coil domain containing 83 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:90,223,500...90,265,432
Ensembl chr 7:90,223,873...90,265,777 		JBrowse link
G Ccdc89 coiled-coil domain containing 89 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:90,426,312...90,428,664
Ensembl chr 7:90,426,577...90,428,669 		JBrowse link
G Crebzf CREB/ATF bZIP transcription factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:90,442,734...90,448,382
Ensembl chr 7:90,442,729...90,447,994 		JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:28575650 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507 		JBrowse link
G Dlg2 discs large MAGUK scaffold protein 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:90,476,188...92,449,246
Ensembl chr 7:90,476,672...92,449,247 		JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:89,954,654...89,980,976
Ensembl chr 7:89,954,654...89,980,983 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
ClinVar Annotator: match by OMIM:133780		 ClinVar
OMIM		 PMID:12172548 PMID:14507768 PMID:15035989 PMID:15370539 PMID:15488808 PMID:15733276 PMID:15981244 PMID:17955262 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21179236 PMID:21681106 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532, PMID:12172548 RGD:1598999 NCBI chr 7:89,404,366...89,410,110
Ensembl chr 7:89,404,355...89,413,134 		JBrowse link
G Hikeshi heat shock protein nuclear import factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:89,918,685...89,941,223
Ensembl chr 7:89,917,529...89,941,204 		JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1		 CTD
ClinVar		 PMID:25741868 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564 		JBrowse link
G Me3 malic enzyme 3, NADP(+)-dependent, mitochondrial ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:89,632,284...89,854,359
Ensembl chr 7:89,632,392...89,854,359 		JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:90,130,192...90,209,447
Ensembl chr 7:90,130,213...90,213,465 		JBrowse link
G Prss23 protease, serine 23 ISO ClinVar Annotator: match by term: Criswick-Schepens syndrome
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1		 ClinVar PMID:12172548 PMID:14507768 PMID:15035989 PMID:15488808 PMID:15733276 PMID:15981244 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21681106 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 NCBI chr 7:89,507,783...89,527,187
Ensembl chr 7:89,507,783...89,527,187 		JBrowse link
G Sytl2 synaptotagmin-like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:90,302,211...90,410,719
Ensembl chr 7:90,302,252...90,410,719 		JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:90,450,700...90,457,203
Ensembl chr 7:90,450,700...90,457,229 		JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:90,468,833...90,475,995
Ensembl chr 7:90,467,438...90,476,001 		JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 7:89,140,022...89,404,703
Ensembl chr 7:89,139,714...89,404,222 		JBrowse link
G Zfp408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:23716654 PMID:27316669 PMID:28492532 NCBI chr 2:91,642,756...91,650,051
Ensembl chr 2:91,643,669...91,649,791 		JBrowse link
exudative vitreoretinopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 low density lipoprotein receptor-related protein 5 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic		 OMIM
ClinVar		 PMID:8832721 PMID:9056564 PMID:9831343 PMID:11719191 PMID:11956231 PMID:14507768 PMID:15024691 PMID:15346351 PMID:15824851 PMID:15981244 PMID:16252235 PMID:18602879 PMID:20034086 PMID:25711638 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29181528 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564 		JBrowse link
exudative vitreoretinopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 5
ClinVar Annotator: match by OMIM:613310		 OMIM
ClinVar		 PMID:15665352 PMID:20159111 PMID:20159112 PMID:21334594 PMID:22427576 PMID:25250762 PMID:25352738 PMID:25741868 PMID:28002565 PMID:28492532 NCBI chr 6:21,771,391...21,879,596
Ensembl chr 6:21,771,395...21,852,515 		JBrowse link
exudative vitreoretinopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 ClinVar
OMIM		 PMID:6897033 PMID:23716654 PMID:25741868 PMID:29982478 NCBI chr 2:91,642,756...91,650,051
Ensembl chr 2:91,643,669...91,649,791 		JBrowse link
exudative vitreoretinopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7
ClinVar Annotator: match by term: Exudative vitreoretinopathy 7		 ClinVar
OMIM		 PMID:28575650 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507 		JBrowse link
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia 2
ClinVar Annotator: match by OMIM:609218
ClinVar Annotator: match by term: Foveal hypoplasia and anterior segment dysgenesis		 OMIM
ClinVar		 PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 NCBI chr 8:119,479,574...119,501,698
Ensembl chr 8:119,479,602...119,501,698 		JBrowse link
Fraser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO
IEA		 CTD Direct Evidence: marker/mechanism
OMIM:219000		 CTD
MouseDO		 PMID:17163535 NCBI chr 5:96,373,777...96,784,733
Ensembl chr 5:96,373,955...96,784,728 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 IEA OMIM:219000 MouseDO NCBI chr 4:82,897,920...83,052,506
Ensembl chr 4:82,897,920...83,052,339 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 ISO
IEA		 CTD Direct Evidence: marker/mechanism
OMIM:219000		 CTD
MouseDO		 PMID:17163535 NCBI chr 3:53,513,938...53,658,593
Ensembl chr 3:53,513,938...53,657,355 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 IEA OMIM:219000 MouseDO NCBI chr10:119,453,238...120,087,267
Ensembl chr10:119,453,830...120,087,261 		JBrowse link
Fraser syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fras1 Fraser extracellular matrix complex subunit 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar Annotator: match by OMIM:219000		 ClinVar
OMIM		 PMID:12766769 PMID:16894541 PMID:17163535 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26893459 PMID:27280866 PMID:28492532 PMID:31319225, PMID:12766769 RGD:1598960 NCBI chr 5:96,373,777...96,784,733
Ensembl chr 5:96,373,955...96,784,728 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME		 ClinVar PMID:25741868 PMID:26275891 PMID:28492532 NCBI chr 3:53,513,938...53,658,593
Ensembl chr 3:53,513,938...53,657,355 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by OMIM:219000
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME		 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:119,453,238...120,087,267
Ensembl chr10:119,453,830...120,087,261 		JBrowse link
Fraser syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem2 Fras1 related extracellular matrix protein 2 ISO ClinVar Annotator: match by term: FRASER SYNDROME 2 ClinVar
OMIM		 PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:25741868 PMID:26275891 PMID:28492532 PMID:29688405 PMID:30802441, PMID:21756877 RGD:13464328 NCBI chr 3:53,513,938...53,658,593
Ensembl chr 3:53,513,938...53,657,355 		JBrowse link
Fraser syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:61,197,112...61,273,419
Ensembl chr10:61,197,112...61,273,438 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr11:72,028,717...72,042,460
Ensembl chr11:72,027,963...72,037,509 		JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr11:73,304,987...73,326,876
Ensembl chr11:73,304,992...73,329,596 		JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:20,310,512...20,342,644
Ensembl chr10:20,312,469...20,344,613 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr11:69,059,775...69,061,576
Ensembl chr11:69,059,717...69,061,578 		JBrowse link
G Gnb5 guanine nucleotide binding protein (G protein), beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 9:75,306,288...75,345,923
Ensembl chr 9:75,306,288...75,345,876 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar
OMIM		 PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 PMID:28492532 NCBI chr10:119,453,238...120,087,267
Ensembl chr10:119,453,830...120,087,261 		JBrowse link
G Lsm10 U7 snRNP-specific Sm-like protein LSM10 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 4:126,096,562...126,098,584
Ensembl chr 4:126,096,623...126,098,584 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:24,869,986...24,913,529
Ensembl chr10:24,869,986...24,913,681 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr17:8,283,787...8,297,667
Ensembl chr17:8,282,904...8,297,661 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 5:112,688,876...112,896,461
Ensembl chr 5:112,688,876...112,896,362 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:45,923,159...45,948,963
Ensembl chr 7:45,924,072...45,948,963 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr11:73,326,560...73,346,592
Ensembl chr11:73,329,741...73,346,044 		JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr11:76,179,671...76,209,417
Ensembl chr11:76,179,671...76,214,827 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr11:75,440,943...75,454,808
Ensembl chr11:75,440,944...75,454,717 		JBrowse link
Frontonasal Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 3
ClinVar Annotator: match by OMIM:613456		 OMIM
ClinVar		 PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 NCBI chr10:103,007,847...103,029,549
Ensembl chr10:102,998,707...103,030,215 		JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor 1 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar
OMIM		 PMID:7952360 PMID:10664581 PMID:17558851 PMID:24091540 PMID:25741868 PMID:25794864 PMID:27062503 PMID:27108797 PMID:27108798 PMID:27862915 PMID:28659154 PMID:28826917 PMID:29169895 PMID:29925855 PMID:32499604 NCBI chr 6:108,213,083...108,551,116
Ensembl chr 6:108,213,096...108,551,109 		JBrowse link
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg9 smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans) ISO ClinVar Annotator: match by term: Heart and brain malformation syndrome ClinVar
OMIM		 PMID:27018474 NCBI chr 7:24,397,517...24,422,777
Ensembl chr 7:24,399,619...24,422,778 		JBrowse link
Hereditary Macular Coloboma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842230 NCBI chr 4:149,467,569...149,485,210
Ensembl chr 4:149,467,572...149,485,202 		JBrowse link
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:16763960 PMID:17661815 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 PMID:21158681 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:24033266 PMID:24862881 PMID:25077900 PMID:25107291 PMID:25741868 PMID:25931334 PMID:25996639 PMID:26467025 PMID:28475860 PMID:28492532 PMID:29255181 PMID:29304373 PMID:31042289 NCBI chr 4:8,690,402...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
hydrophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) RGD PMID:9097971 RGD:1599716 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 IMP RGD PMID:22426483 RGD:8549773 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011 		JBrowse link
G Kdr kinase insert domain protein receptor IMP RGD PMID:22426483 RGD:8549773 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458 		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: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis		 ClinVar
OMIM		 PMID:25741868 PMID:27939639 PMID:27939640 NCBI chr 6:113,306,863...113,324,862
Ensembl chr 6:113,307,137...113,324,860 		JBrowse link
iridogoniodysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591 		JBrowse link
isolated cryptophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix protein 1 IAGP DNA:deletion, frame shift:cds, splice junction:
DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse)		 RGD PMID:23221805, PMID:23536828 RGD:11554181, RGD:11554185 NCBI chr 4:82,897,920...83,052,506
Ensembl chr 4:82,897,920...83,052,339 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 ISO
IEA		 ClinVar Annotator: match by term: Cryptophthalmos, unilateral or bilateral, isolated
OMIM:123570		 ClinVar
MouseDO
OMIM		 PMID:29688405 PMID:30802441 NCBI chr 3:53,513,938...53,658,593
Ensembl chr 3:53,513,938...53,657,355 		JBrowse link
isolated microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by OMIM:610093
ClinVar Annotator: match by term: Microphthalmia, isolated 2
ClinVar Annotator: match by null		 ClinVar
OMIM		 PMID:3378363 PMID:11341888 PMID:15257456 PMID:17661825 PMID:21976963 PMID:25741868 PMID:28492532 NCBI chr12:84,569,828...84,595,457
Ensembl chr12:84,569,762...84,595,457 		JBrowse link
isolated microphthalmia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Microphthalmia, isolated 3
ClinVar Annotator: match by OMIM:611038		 OMIM
ClinVar		 PMID:14662654 PMID:18783408 PMID:19158959 PMID:20494911 PMID:25741868 PMID:28492532 NCBI chr18:65,934,639...65,939,089
Ensembl chr18:65,928,277...65,939,787 		JBrowse link
isolated microphthalmia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 4
ClinVar Annotator: match by OMIM:613094		 OMIM
ClinVar		 PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 PMID:32737436 NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345 		JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen		 ClinVar PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,107,245...44,109,187 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by OMIM:611040		 OMIM
ClinVar		 PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649, PMID:19753314 RGD:11553925 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,101,729...44,109,187 		JBrowse link
isolated microphthalmia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,107,245...44,109,187 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,101,729...44,109,187 		JBrowse link
G Prss56 protease, serine 56 ISO
IEA		 ClinVar Annotator: match by term: Microphthalmia, isolated 6
OMIM:613517
ClinVar Annotator: match by OMIM:613517		 OMIM
ClinVar
MouseDO		 PMID:15823920 PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:21850159 PMID:22908982 PMID:23127749 PMID:24033266 PMID:24227917 PMID:25741868 PMID:28492532 PMID:32996714 NCBI chr 1:87,183,102...87,188,405
Ensembl chr 1:87,183,313...87,188,405 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chr12:84,569,828...84,595,457
Ensembl chr12:84,569,762...84,595,457 		JBrowse link
isolated microphthalmia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by OMIM:613704 OMIM
ClinVar		 PMID:19864492 NCBI chr 6:122,605,403...122,610,087
Ensembl chr 6:122,605,403...122,610,087 		JBrowse link
isolated microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 8
ClinVar Annotator: match by OMIM:615113		 OMIM
ClinVar		 PMID:23312594 PMID:25741868 PMID:26995144 PMID:28492532 NCBI chr 7:66,390,892...66,427,477
Ensembl chr 7:66,390,890...66,427,517 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 sine oculis-related homeobox 6 ISO ClinVar Annotator: match by OMIM:212550
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr12:72,939,882...72,944,899
Ensembl chr12:72,939,892...72,944,899 		JBrowse link
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 3 ClinVar PMID:25741868 NCBI chr  X:161,833,290...162,159,441
Ensembl chr  X:161,833,296...162,159,730 		JBrowse link
Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4, plasma ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar		 PMID:25741868 PMID:25910211 NCBI chr19:38,116,620...38,125,321
Ensembl chr19:38,116,629...38,125,281 		JBrowse link
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by OMIM:610092
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3		 ClinVar
OMIM		 PMID:15257456 PMID:21976963 PMID:25606400 PMID:25741868 PMID:28492532 NCBI chr12:84,569,828...84,595,457
Ensembl chr12:84,569,762...84,595,457 		JBrowse link
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:9302262 PMID:10556296 PMID:12503095 PMID:18414213 PMID:20425842 PMID:25741868 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256 		JBrowse link
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6
ClinVar Annotator: match by OMIM:613703		 OMIM
ClinVar		 PMID:19864492 PMID:24281366 PMID:25741868 NCBI chr 6:122,605,403...122,610,087
Ensembl chr 6:122,605,403...122,610,087 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar		 PMID:19864492 PMID:23307924 NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345 		JBrowse link
Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7
ClinVar Annotator: match by OMIM:614497		 OMIM
ClinVar		 PMID:19504436 PMID:22226084 PMID:24281366 NCBI chr 1:75,171,640...75,180,392
Ensembl chr 1:75,171,717...75,180,392 		JBrowse link
Isolated Microphthalmia with Coloboma 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tenm3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by OMIM:615145
ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9		 ClinVar
OMIM		 PMID:22766609 PMID:25741868 PMID:27103084 PMID:29753094 PMID:30513139 NCBI chr 8:48,225,665...49,522,824
Ensembl chr 8:48,227,682...48,843,951 		JBrowse link
Joubert syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:15322546 PMID:15467982 PMID:16453322 PMID:25616960 PMID:25741868 PMID:28492532 NCBI chr10:20,952,232...21,080,429
Ensembl chr10:20,952,547...21,080,429 		JBrowse link
G Arl13b ADP-ribosylation factor-like 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:62,793,308...62,847,055
Ensembl chr16:62,793,685...62,847,040 		JBrowse link
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24886560 PMID:26092869 NCBI chr11:61,505,144...61,512,931
Ensembl chr11:61,505,144...61,512,931 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis		 ClinVar PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22425360 PMID:22995991 PMID:23012439 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532 NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17964524 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23847139 PMID:25741868 PMID:26047050 PMID:26092869 PMID:27491411 PMID:28492532 PMID:28497568 PMID:29146704 PMID:29398085 PMID:30718709 NCBI chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:26092869 NCBI chr15:8,169,025...8,271,158
Ensembl chr15:8,169,106...8,271,158 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by OMIM:213300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15786477 PMID:18414213 PMID:19668216 PMID:23386033 PMID:25133751 PMID:25741868 PMID:25818971 PMID:26092869 PMID:28492532 PMID:29186038 PMID:29230161 PMID:30202406 NCBI chr 2:26,396,249...26,409,244
Ensembl chr 2:26,396,249...26,409,203 		JBrowse link
G Micall2 MICAL-like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr 5:139,706,692...139,736,333
Ensembl chr 5:139,706,696...139,736,336 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:17185389 PMID:17397051 PMID:23351400 PMID:28492532 NCBI chr11:87,853,182...87,863,803
Ensembl chr11:87,853,215...87,863,803 		JBrowse link
G Nphp1 nephronophthisis 1 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 2:127,740,732...127,788,913
Ensembl chr 2:127,740,732...127,788,897 		JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis		 ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:166,386,573...166,440,704
Ensembl chr  X:166,390,033...166,440,704 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis		 ClinVar PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532 NCBI chr 8:91,217,030...91,313,291
Ensembl chr 8:91,217,030...91,313,262 		JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chr 5:122,239,495...122,264,489
Ensembl chr 5:122,237,848...122,264,460 		JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28497568 NCBI chr19:10,539,326...10,556,297
Ensembl chr19:10,533,865...10,556,238 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:59,100,584...59,120,422
Ensembl chr 1:59,100,590...59,120,408 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis		 ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:66,183,787...66,256,674
Ensembl chr 2:66,184,327...66,256,617 		JBrowse link
Joubert Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2
ClinVar Annotator: match by term: Joubert syndrome 2
ClinVar Annotator: match by OMIM:608091
DNA:misense mutation:exon:c.35G>T(p.R12L)(human)		 OMIM
ClinVar		 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568, PMID:20036350 RGD:11561919 NCBI chr19:10,539,326...10,556,297
Ensembl chr19:10,533,865...10,556,238 		JBrowse link
Joubert syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 6:112,459,505...112,472,872
Ensembl chr 6:112,459,505...112,472,872 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A no_association ISO ClinVar Annotator: match by term: Joubert syndrome 9
ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
DNA:splice-site mutation:intron:IVS19+1G>C (human)
DNA:mutations: :multiple
ClinVar Annotator: match by OMIM:612285
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:8253763 PMID:18387594 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23692786 PMID:24033266 PMID:24706459 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28492532 PMID:32488064, PMID:19068953, PMID:22241855, PMID:22241855 RGD:11535976, RGD:11062645, RGD:11062645 NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972 		JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:20301500 PMID:22246503 PMID:28492532 PMID:30664616 NCBI chr 6:30,653,457...30,710,517
Ensembl chr 6:30,653,457...30,693,749 		JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 PMID:28492532 NCBI chr 3:159,599,075...159,625,307
Ensembl chr 3:159,599,175...159,625,321 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 9:63,953,076...64,022,085
Ensembl chr 9:63,953,076...64,022,059 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by OMIM:612713 OMIM
ClinVar		 PMID:18781183 PMID:20700148 NCBI chr 5:76,140,273...76,155,503
Ensembl chr 5:76,140,271...76,155,504 		JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome ClinVar PMID:18414213 PMID:25741868 NCBI chr13:53,109,317...53,286,124
Ensembl chr13:53,109,312...53,286,124 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Kaufman oculocerebrofacial syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:23200864 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 NCBI chr 5:114,380,517...114,421,169
Ensembl chr 5:114,380,607...114,421,169 		JBrowse link
linear skin defects with multiple congenital anomalies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:106,015,700...106,022,450
Ensembl chr  X:106,015,700...106,022,450 		JBrowse link
G Hccs holocytochrome c synthetase ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
ClinVar Annotator: match by OMIM:309801		 OMIM
ClinVar		 PMID:16059943 PMID:17033964 PMID:25741868 NCBI chr  X:169,311,530...169,320,374
Ensembl chr  X:169,250,193...169,320,372 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1		 CTD
ClinVar		 PMID:25741868 PMID:25772934 NCBI chr  X:20,615,326...20,617,619
Ensembl chr  X:20,615,326...20,617,619 		JBrowse link
Marden-Walker Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Marden-Walker syndrome
ClinVar Annotator: match by OMIM:248700		 OMIM
ClinVar		 PMID:24726473 PMID:25741868 NCBI chr18:63,010,213...63,387,716
Ensembl chr18:63,010,213...63,387,183 		JBrowse link
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix protein 1 ISO
IAGP		 ClinVar Annotator: match by term: Manitoba Trichoanal syndrome
ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome
ClinVar Annotator: match by OMIM:248450
DNA:mutation:splice junction:
DNA:deletion,frameshift,missense mutations:exons,cds:
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11332973 PMID:17352387 PMID:21507892 PMID:21931569 PMID:23112756 PMID:23221805 PMID:23333812 PMID:23806086 PMID:24088041 PMID:24115501 PMID:25736269 PMID:25741868 PMID:26893459 PMID:28492532, PMID:21507892, PMID:21507892 RGD:11070482, RGD:11070482 NCBI chr 4:82,897,920...83,052,506
Ensembl chr 4:82,897,920...83,052,339 		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: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar		 PMID:15930898 PMID:22284827 PMID:25115524 PMID:25124931 PMID:25741868 PMID:25934493 PMID:26472404 PMID:27212378 PMID:28492532 PMID:32214227 NCBI chr19:37,376,382...37,421,863
Ensembl chr19:37,376,403...37,421,859 		JBrowse link
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts18 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus
ClinVar Annotator: match by OMIM:615458		 OMIM
ClinVar		 PMID:22686506 PMID:23818446 NCBI chr 8:113,697,123...113,849,343
Ensembl chr 8:113,697,126...113,848,738 		JBrowse link
microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap6 Rho GTPase activating protein 6 IEA OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr  X:168,795,094...169,304,440
Ensembl chr  X:168,795,099...169,304,435 		JBrowse link
G Dyrk1a dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1a ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 PMID:25944381 PMID:28492532 PMID:32581362 NCBI chr16:94,569,947...94,695,519
Ensembl chr16:94,570,010...94,695,517 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 NCBI chr14:32,513,291...32,580,990
Ensembl chr14:32,513,521...32,580,990 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 IMP RGD PMID:12893777 RGD:11344906 NCBI chr 6:113,531,640...113,597,020
Ensembl chr 6:113,531,682...113,597,017 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: therapeutic CTD PMID:32472575 NCBI chr19:45,736,491...45,742,941
Ensembl chr19:45,736,798...45,742,915 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO DNA:missense mutation:cds:p.L7Q(rat) RGD PMID:18470322 RGD:2293186 NCBI chr 3:96,913,566...96,926,051
Ensembl chr 3:96,913,566...96,926,020 		JBrowse link
G Hccs holocytochrome c synthetase ISO
IEA		 microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C
OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972		 MouseDO PMID:17033964 RGD:1600417 NCBI chr  X:169,311,530...169,320,374
Ensembl chr  X:169,250,193...169,320,372 		JBrowse link
G Hmx1 H6 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chr 5:35,388,780...35,400,285
Ensembl chr 5:35,389,108...35,399,730 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar NCBI chr 2:105,660,253...105,676,053 JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO DNA:mutation:splice junction: RGD PMID:28111184 RGD:12793059 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564 		JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) RGD PMID:23742260 RGD:11553922 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,101,729...44,109,187 		JBrowse link
G Mid1 midline 1 IEA OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr  X:169,685,199...169,990,798
Ensembl chr  X:169,685,199...170,005,736 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Anophthalmia/Microphthalmia ClinVar PMID:26893459 PMID:28492532 NCBI chr 2:26,457,902...26,503,822
Ensembl chr 2:26,457,903...26,516,663 		JBrowse link
G Pax6 paired box 6 ISO human gene in a mouse model
ClinVar Annotator: match by term: Anophthalmia - microphthalmia		 ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532, PMID:18507827 RGD:8552240 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 IAGP
ISO		 DNA:nonsense mutation:cl444C>A(mouse)
CTD Direct Evidence: marker/mechanism		 CTD PMID:16565358, PMID:25347445 RGD:11535071 NCBI chr19:46,135,281...46,148,325
Ensembl chr19:46,135,685...46,148,326 		JBrowse link
G Prss56 protease, serine 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr 1:87,183,102...87,188,405
Ensembl chr 1:87,183,313...87,188,405 		JBrowse link
G Ralbp1 ralA binding protein 1 IEA OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr17:65,848,415...65,885,755
Ensembl chr17:65,848,418...65,885,798 		JBrowse link
G Shh sonic hedgehog ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:31690747 PMID:32472575 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256 		JBrowse link
G Six6 sine oculis-related homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:72,939,882...72,944,899
Ensembl chr12:72,939,892...72,944,899 		JBrowse link
G Stau2 staufen double-stranded RNA binding protein 2 ISO RGD PMID:22940085 RGD:10043154 NCBI chr 1:16,228,803...16,520,332
Ensembl chr 1:16,228,674...16,520,112 		JBrowse link
G Stra6 stimulated by retinoic acid gene 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18316031 NCBI chr 9:58,063,793...58,154,004
Ensembl chr 9:58,063,788...58,153,996 		JBrowse link
G Tfap2a transcription factor AP-2, alpha ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25741868 NCBI chr13:40,713,802...40,738,238
Ensembl chr13:40,715,302...40,738,376 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia/Microphthalmia
ClinVar Annotator: match by term: Microphthalmia		 ClinVar PMID:15257456 PMID:24033328 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr12:84,569,828...84,595,457
Ensembl chr12:84,569,762...84,595,457 		JBrowse link
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 IMP RGD PMID:20735985 RGD:12880033 NCBI chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by null ClinVar PMID:11341888 PMID:17661825 NCBI chr12:84,569,828...84,595,457
Ensembl chr12:84,569,762...84,595,457 		JBrowse link
Microspherophakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia ClinVar PMID:19361779 PMID:20179738 PMID:20617341 PMID:21081970 PMID:22025892 PMID:25741868 PMID:28492532 NCBI chr12:84,783,212...84,876,558
Ensembl chr12:84,783,212...84,876,532 		JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO OMIM NCBI chr12:84,783,212...84,876,558
Ensembl chr12:84,783,212...84,876,532 		JBrowse link
nanophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25412400 PMID:26583794 PMID:28492532 PMID:29170418 PMID:30181649 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,107,245...44,109,187 		JBrowse link
G Mfrp membrane frizzled-related protein ISS
ISO		 OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972
ClinVar Annotator: match by term: Nanophthalmos		 MouseDO
ClinVar		 PMID:25412400 PMID:26583794 PMID:28492532 PMID:29170418 PMID:30181649 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,101,729...44,109,187 		JBrowse link
G Prss56 protease, serine 56 ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 PMID:23127749 PMID:24033266 PMID:24227917 NCBI chr 1:87,183,102...87,188,405
Ensembl chr 1:87,183,313...87,188,405 		JBrowse link
G Tmem98 transmembrane protein 98 ISS OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972 MouseDO NCBI chr11:80,810,366...80,822,033
Ensembl chr11:80,810,175...80,822,033 		JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr19:10,208,271...10,240,777
Ensembl chr19:10,208,272...10,240,748 		JBrowse link
Nanophthalmos 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Nanophthalmos 2		 ClinVar PMID:1258954 PMID:15976030 PMID:17167404 PMID:18554571 PMID:19753314 PMID:20361016 PMID:22605927 PMID:23112574 PMID:23143909 PMID:28492532 PMID:32996714 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,107,245...44,109,187 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Nanophthalmos 2
ClinVar Annotator: match by OMIM:609549		 OMIM
ClinVar		 PMID:1258954 PMID:15976030 PMID:17167404 PMID:18554571 PMID:19753314 PMID:20361016 PMID:22605927 PMID:23112574 PMID:23143909 PMID:28492532 PMID:32996714 NCBI chr 9:44,101,770...44,109,187
Ensembl chr 9:44,101,729...44,109,187 		JBrowse link
Nanophthalmos 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem98 transmembrane protein 98 ISO ClinVar Annotator: match by term: Nanophthalmos 4 OMIM
ClinVar		 PMID:24852644 PMID:26392740 NCBI chr11:80,810,366...80,822,033
Ensembl chr11:80,810,175...80,822,033 		JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr 1:63,200,358...63,314,576
Ensembl chr 1:63,273,265...63,314,576 		JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin, beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614199		 OMIM
ClinVar		 PMID:7885444 PMID:14136829 PMID:16097004 PMID:16912710 PMID:18594871 PMID:19251977 PMID:20556798 PMID:21236492 PMID:21763483 PMID:23349334 PMID:23595123 PMID:25741868 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27858192 PMID:28492532 NCBI chr 9:108,479,847...108,490,530
Ensembl chr 9:108,479,736...108,490,530 		JBrowse link
G Serpina10 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868 NCBI chr12:103,616,675...103,631,490
Ensembl chr12:103,614,786...103,631,444 		JBrowse link
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rere arginine glutamic acid dipeptide (RE) repeats ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		 ClinVar
OMIM		 PMID:25741868 PMID:26350515 PMID:27087320 PMID:29330883 NCBI chr 4:150,281,511...150,621,966
Ensembl chr 4:150,281,646...150,621,966 		JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by OMIM:600251 OMIM
ClinVar		 PMID:21703590 NCBI chr10:75,212,037...75,312,400
Ensembl chr10:75,212,073...75,312,743 		JBrowse link
oculoauricular syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fadd Fas (TNFRSF6)-associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 7:144,578,323...144,582,441
Ensembl chr 7:144,577,318...144,582,463 		JBrowse link
G Hmx1 H6 homeobox 1 ISO
IEA		 CTD Direct Evidence: marker/mechanism
OMIM:612109
ClinVar Annotator: match by OMIM:612109		 OMIM
CTD
MouseDO
ClinVar		 PMID:18423520 PMID:19379485 PMID:25574057 NCBI chr 5:35,388,780...35,400,285
Ensembl chr 5:35,389,108...35,399,730 		JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO
IEA
IMP
IAGP		 ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
OMIM:164200 | OMIM:257850
DNA:mutation:cd:p.G138R(mouse)
ClinVar Annotator: match by OMIM:164200
DNA:missense mutation:cds:p.P59H (human)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)		 OMIM
ClinVar
CTD
MouseDO		 PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16155213 PMID:16211004 PMID:16378922 PMID:16709485 PMID:17256797 PMID:17420259 PMID:17509830 PMID:17687502 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19638688 PMID:19725242 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:25741868 PMID:28492532, PMID:18003637, PMID:16219735, PMID:15637728, PMID:12457340, PMID:16155213 RGD:12910132, RGD:1578474, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513 		JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar
OMIM		 PMID:2309863 PMID:11470490 PMID:12457340 PMID:14974090 PMID:14981729 PMID:15192806 PMID:15879313 PMID:16531323 PMID:16816024 PMID:17901047 PMID:18003637 PMID:18946008 PMID:19057520 PMID:19338053 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:25388818 PMID:25398053 PMID:25741868 PMID:27226478 PMID:28492532 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513 		JBrowse link
Ohdo syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:101,274,091...101,298,934
Ensembl chr  X:101,274,030...101,297,465 		JBrowse link
Ohdo Syndrome, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Ohdo syndrome, X-linked
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE
DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)
ClinVar Annotator: match by OMIM:300895		 OMIM
ClinVar		 PMID:8279489 PMID:16700052 PMID:23395478 PMID:25326637 PMID:25741868, PMID:23395478 RGD:12910951 NCBI chr  X:101,274,091...101,298,934
Ensembl chr  X:101,274,030...101,297,465 		JBrowse link
optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 sine oculis-related homeobox 6 ISO ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY OMIM
ClinVar		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr12:72,939,882...72,944,899
Ensembl chr12:72,939,892...72,944,899 		JBrowse link
persistent hyperplastic primary vitreous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISS OMIM:221900 | OMIM:611308 MouseDO NCBI chr10:63,099,785...63,101,280
Ensembl chr10:63,099,651...63,101,279 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A IMP RGD PMID:16620915 RGD:8552304 NCBI chr 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653 		JBrowse link
G Ndp Norrie disease (pseudoglioma) (human) ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous ClinVar PMID:25741868 NCBI chr  X:16,885,521...16,911,774
Ensembl chr  X:16,885,521...16,911,774 		JBrowse link
G Pax6 paired box 6 IAGP DNA:snp:cds:pN64K (mouse) RGD PMID:19345209 RGD:8551891 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364 		JBrowse link
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G