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syndromic microphthalmia 11 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:syndromic microphthalmia 11
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Accession:DOID:0111804 term browser browse the term
Definition:A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. (DO)
Synonyms:exact_synonym: MCOPS11;   VAX1-RELATED CONDITION
 primary_id: MIM:614402

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syndromic microphthalmia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:30,200,723...30,274,559
Ensembl chrNW_004624737:30,200,650...30,274,521 		JBrowse link
G G CCDC172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:109,138,300...109,192,883
Ensembl chr 9:109,139,390...109,192,198 		JBrowse link
G P CCDC172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:126,549,112...126,637,606
Ensembl chr14:126,549,331...126,636,518 		JBrowse link
G S Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:6,305,419...6,376,514
Ensembl chrNW_004936486:6,305,419...6,375,038 		JBrowse link
G D CCDC172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:26,953,945...27,013,600
Ensembl chr28:26,954,022...27,011,998 		JBrowse link
G B CCDC172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:112,870,502...112,968,853
Ensembl chr10:116,345,394...116,401,441 		JBrowse link
G C Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:21,099,475...21,193,932
Ensembl chrNW_004955431:21,109,547...21,183,019 		JBrowse link
G R Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:257,629,188...257,682,373
Ensembl chr 1:257,629,208...257,675,247 		JBrowse link
G M Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,500,416...58,546,504
Ensembl chr19:58,500,424...58,541,517 		JBrowse link
G H CCDC172 coiled-coil domain containing 172 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:116,324,448...116,380,029
Ensembl chr10:116,324,448...116,380,029 		JBrowse link
G N Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:29,103,378...29,110,356
Ensembl chrNW_004624737:29,103,279...29,110,344 		JBrowse link
G G EMX2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:110,347,043...110,353,647
Ensembl chr 9:110,347,379...110,353,643 		JBrowse link
G P EMX2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:127,649,675...127,656,972
Ensembl chr14:127,650,688...127,655,706 		JBrowse link
G S Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:7,313,689...7,319,971
Ensembl chrNW_004936486:7,313,190...7,319,995 		JBrowse link
G D EMX2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:28,002,966...28,009,955
Ensembl chr28:28,003,710...28,009,035 		JBrowse link
G B EMX2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:114,124,759...114,132,109
Ensembl chr10:117,551,451...117,557,972 		JBrowse link
G C Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:22,192,446...22,199,141
Ensembl chrNW_004955431:22,192,446...22,199,279 		JBrowse link
G R Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594 		JBrowse link
G M Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:59,447,122...59,453,789
Ensembl chr19:59,446,804...59,453,789 		JBrowse link
G H EMX2 empty spiracles homeobox 2 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:117,542,746...117,549,546
Ensembl chr10:117,542,445...117,549,546 		JBrowse link
G R Emx2os Emx2 opposite strand/antisense RNA ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:258,569,637...258,626,810 JBrowse link
G M Emx2os Emx2 opposite strand/antisense transcript, non-protein coding ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:59,413,536...59,447,067
Ensembl chr19:59,383,296...59,448,147 		JBrowse link
G H EMX2OS EMX2 opposite strand/antisense RNA IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:117,484,293...117,545,068
Ensembl chr10:117,473,213...117,545,068 		JBrowse link
G N Eno4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:29,655,799...29,758,109
Ensembl chrNW_004624737:29,655,579...29,758,186 		JBrowse link
G G ENO4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:109,658,378...109,695,425
Ensembl chr 9:109,660,889...109,692,999 		JBrowse link
G P ENO4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:127,032,217...127,063,660
Ensembl chr14:127,036,991...127,066,048 		JBrowse link
G S Eno4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:6,760,400...6,785,098
Ensembl chrNW_004936486:6,760,400...6,783,066 		JBrowse link
G D ENO4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,392,650...27,418,725
Ensembl chr28:27,392,741...27,418,711 		JBrowse link
G B ENO4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:113,435,222...113,466,275
Ensembl chr10:116,861,395...116,922,607 		JBrowse link
G C Eno4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:21,625,808...21,650,282
Ensembl chrNW_004955431:21,625,808...21,650,282 		JBrowse link
G R Eno4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:268,073,318...268,113,494
Ensembl chr 1:258,096,432...258,128,984 		JBrowse link
G M Eno4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,922,490...58,959,853
Ensembl chr19:58,931,857...58,959,853 		JBrowse link
G H ENO4 enolase 4 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:116,849,499...116,912,375
Ensembl chr10:116,849,499...116,911,788 		JBrowse link
G N Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:30,325,962...30,526,311
Ensembl chrNW_004624737:30,324,515...30,526,486 		JBrowse link
G G GFRA1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:108,869,444...109,088,803
Ensembl chr 9:108,876,855...109,087,488 		JBrowse link
G P GFRA1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:126,273,558...126,499,957
Ensembl chr14:126,277,875...126,499,465 		JBrowse link
G S Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:6,066,108...6,262,055
Ensembl chrNW_004936486:6,071,023...6,262,165 		JBrowse link
G D GFRA1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:26,707,592...26,910,029
Ensembl chr28:26,709,645...26,909,992 		JBrowse link
G B GFRA1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:112,645,574...112,862,413
Ensembl chr10:116,079,063...116,295,164 		JBrowse link
G C Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853 		JBrowse link
G R Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:267,325,297...267,557,037
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G M Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,224,013...58,444,387
Ensembl chr19:58,224,036...58,444,341 		JBrowse link
G H GFRA1 GDNF family receptor alpha 1 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803 		JBrowse link
G N Hspa12a heat shock protein family A (Hsp70) member 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:29,757,827...29,917,212
Ensembl chrNW_004624737:29,758,011...29,914,134 		JBrowse link
G G HSPA12A heat shock protein family A (Hsp70) member 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:109,479,398...109,661,166
Ensembl chr 9:109,479,396...109,661,350 		JBrowse link
G P HSPA12A heat shock protein family A (Hsp70) member 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:126,851,898...127,037,273
Ensembl chr14:126,851,903...127,037,257 		JBrowse link
G S Hspa12a heat shock protein family A (Hsp70) member 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:6,612,201...6,760,453
Ensembl chrNW_004936486:6,612,170...6,760,608 		JBrowse link
G D HSPA12A heat shock protein family A (Hsp70) member 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,232,167...27,392,876
Ensembl chr28:27,232,663...27,392,977 		JBrowse link
G B HSPA12A heat shock protein family A (Hsp70) member 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:113,253,070...113,432,083
Ensembl chr10:116,683,985...116,861,396 		JBrowse link
G C Hspa12a heat shock protein family A (Hsp70) member 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:21,464,578...21,625,979
Ensembl chrNW_004955431:21,468,475...21,611,362 		JBrowse link
G R Hspa12a heat shock protein family A (Hsp70) member 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:257,935,642...258,096,602
Ensembl chr 1:257,935,644...258,096,846 		JBrowse link
G M Hspa12a heat shock protein 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,784,182...58,932,104
Ensembl chr19:58,784,182...58,932,086 		JBrowse link
G H HSPA12A heat shock protein family A (Hsp70) member 12A IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:116,671,192...116,850,747
Ensembl chr10:116,671,192...116,850,251 		JBrowse link
G N Kcnk18 potassium two pore domain channel subfamily K member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:29,414,733...29,425,855 JBrowse link
G G KCNK18 potassium two pore domain channel subfamily K member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:109,994,379...110,009,295
Ensembl chr 9:109,995,843...110,008,739 		JBrowse link
G P KCNK18 potassium two pore domain channel subfamily K member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:127,323,291...127,335,320 JBrowse link
G S Kcnk18 potassium two pore domain channel subfamily K member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:7,041,623...7,075,224 JBrowse link
G D KCNK18 potassium two pore domain channel subfamily K member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,694,532...27,707,607
Ensembl chr28:27,694,532...27,706,453 		JBrowse link
G B KCNK18 potassium two pore domain channel subfamily K member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:113,775,944...113,792,520
Ensembl chr10:117,206,815...117,219,701 		JBrowse link
G C Kcnk18 potassium two pore domain channel subfamily K member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:21,916,587...21,927,346 JBrowse link
G R Kcnk18 potassium two pore domain channel subfamily K member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:268,360,738...268,375,012
Ensembl chr 1:258,374,671...258,388,945 		JBrowse link
G M Kcnk18 potassium channel, subfamily K, member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:59,208,080...59,225,802
Ensembl chr19:59,207,646...59,225,806 		JBrowse link
G H KCNK18 potassium two pore domain channel subfamily K member 18 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:117,197,489...117,210,299
Ensembl chr10:117,197,489...117,210,299 		JBrowse link
G B LOC100993654 pancreatic lipase-related protein 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:113,203,170...113,216,890
Ensembl chr10:116,634,538...116,658,075 		JBrowse link
G G LOC103216568 pancreatic lipase-related protein 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:109,428,235...109,453,687 JBrowse link
G M Or52n20 olfactory receptor family 52 subfamily N member 20 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 7:104,319,911...104,320,879
Ensembl chr 7:104,315,960...104,324,155 		JBrowse link
G N Pdzd8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:29,242,198...29,353,336
Ensembl chrNW_004624737:29,242,196...29,353,336 		JBrowse link
G G PDZD8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:110,081,713...110,184,348
Ensembl chr 9:110,082,680...110,184,260 		JBrowse link
G P PDZD8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:127,395,842...127,502,421
Ensembl chr14:127,395,823...127,502,400 		JBrowse link
G S Pdzd8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:7,109,733...7,190,518
Ensembl chrNW_004936486:7,114,383...7,190,572 		JBrowse link
G D PDZD8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,768,182...27,853,958
Ensembl chr28:27,772,651...27,853,769 		JBrowse link
G B PDZD8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:113,862,457...113,958,281
Ensembl chr10:117,293,877...117,385,317 		JBrowse link
G C Pdzd8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:21,980,447...22,060,826
Ensembl chrNW_004955431:21,980,447...22,060,826 		JBrowse link
G R Pdzd8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:258,449,218...258,506,828
Ensembl chr 1:258,449,218...258,506,828 		JBrowse link
G M Pdzd8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:59,284,516...59,334,212
Ensembl chr19:59,285,610...59,334,212 		JBrowse link
G H PDZD8 PDZ domain containing 8 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:117,277,274...117,375,440
Ensembl chr10:117,277,274...117,375,440 		JBrowse link
G G PNLIP pancreatic lipase ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:109,330,050...109,375,687
Ensembl chr 9:109,352,806...109,375,670 		JBrowse link
G P PNLIP pancreatic lipase ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:126,771,920...126,789,097
Ensembl chr14:126,772,911...126,790,001 		JBrowse link
G D PNLIP pancreatic lipase ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,139,028...27,156,457
Ensembl chr28:27,139,230...27,212,178 		JBrowse link
G B PNLIP pancreatic lipase ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:113,067,443...113,158,473
Ensembl chr10:116,568,273...116,589,729 		JBrowse link
G R Pnlip pancreatic lipase ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:267,760,073...267,797,797
Ensembl chr 1:257,798,581...257,811,654 		JBrowse link
G M Pnlip pancreatic lipase ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,658,797...58,670,231
Ensembl chr19:58,640,930...58,670,220 		JBrowse link
G H PNLIP pancreatic lipase IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:116,545,931...116,567,855
Ensembl chr10:116,545,931...116,567,855 		JBrowse link
G N Pnliprp1 pancreatic lipase related protein 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:29,967,294...29,982,737 JBrowse link
G G PNLIPRP1 pancreatic lipase related protein 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:109,397,970...109,417,422
Ensembl chr 9:109,399,227...109,417,351 		JBrowse link
G P PNLIPRP1 pancreatic lipase related protein 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:126,796,943...126,812,152
Ensembl chr14:126,797,074...126,812,152 		JBrowse link
G S Pnliprp1 pancreatic lipase related protein 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:6,548,481...6,563,144
Ensembl chrNW_004936486:6,548,603...6,563,148 		JBrowse link
G D PNLIPRP1 pancreatic lipase related protein 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,167,754...27,183,104
Ensembl chr28:27,139,230...27,212,178 		JBrowse link
G C Pnliprp1 pancreatic lipase related protein 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:21,391,166...21,406,617
Ensembl chrNW_004955431:21,391,166...21,406,617 		JBrowse link
G R Pnliprp1 pancreatic lipase-related protein 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:257,867,885...257,883,514
Ensembl chr 1:257,867,885...257,883,514 		JBrowse link
G M Pnliprp1 pancreatic lipase related protein 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,717,319...58,732,601
Ensembl chr19:58,717,319...58,732,601 		JBrowse link
G H PNLIPRP1 pancreatic lipase related protein 1 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:116,590,959...116,609,175
Ensembl chr10:116,590,385...116,609,175 		JBrowse link
G N Pnliprp2 pancreatic lipase related protein 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:29,936,223...29,955,265
Ensembl chrNW_004624737:29,936,277...29,952,794 		JBrowse link
G P PNLIPRP2 pancreatic lipase related protein 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:126,817,647...126,839,273
Ensembl chr14:126,817,642...126,839,259 		JBrowse link
G D PNLIPRP2 pancreatic lipase related protein 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,190,641...27,212,185
Ensembl chr28:27,139,230...27,212,178 		JBrowse link
G C Pnliprp2 pancreatic lipase related protein 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:21,425,345...21,442,979
Ensembl chrNW_004955431:21,425,330...21,442,979 		JBrowse link
G R Pnliprp2 pancreatic lipase related protein 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:267,883,906...267,902,572
Ensembl chr 1:257,897,766...257,916,434 		JBrowse link
G M Pnliprp2 pancreatic lipase-related protein 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,748,155...58,765,966
Ensembl chr19:58,748,151...58,765,966 		JBrowse link
G H PNLIPRP2 pancreatic lipase related protein 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:116,620,953...116,645,143
Ensembl chr10:116,620,953...116,645,143 		JBrowse link
G G PNLIPRP3 pancreatic lipase related protein 3 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:109,238,862...109,290,181
Ensembl chr 9:109,238,862...109,287,898 		JBrowse link
G P PNLIPRP3 pancreatic lipase related protein 3 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:126,668,569...126,717,139
Ensembl chr14:126,677,455...126,716,529 		JBrowse link
G D PNLIPRP3 pancreatic lipase related protein 3 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,064,823...27,092,693
Ensembl chr28:27,058,258...27,091,134 		JBrowse link
G B PNLIPRP3 pancreatic lipase related protein 3 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:113,017,080...113,067,133
Ensembl chr10:116,457,342...116,498,877 		JBrowse link
G H PNLIPRP3 pancreatic lipase related protein 3 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:116,427,847...116,477,957
Ensembl chr10:116,427,847...116,477,957 		JBrowse link
G N Shtn1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:29,621,459...29,719,286 JBrowse link
G G SHTN1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:109,696,107...109,817,537
Ensembl chr 9:109,697,657...109,816,774 		JBrowse link
G P SHTN1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:127,065,507...127,175,222
Ensembl chr14:127,064,397...127,175,227 		JBrowse link
G S Shtn1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:6,786,037...6,867,221
Ensembl chrNW_004936486:6,786,015...6,867,236 		JBrowse link
G D SHTN1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,422,086...27,517,190
Ensembl chr28:27,421,579...27,517,935 		JBrowse link
G B SHTN1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:113,466,218...113,587,490
Ensembl chr10:116,896,155...117,016,223 		JBrowse link
G C Shtn1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:21,653,415...21,734,160
Ensembl chrNW_004955431:21,653,415...21,734,426 		JBrowse link
G R Shtn1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:268,108,095...268,211,947
Ensembl chr 1:258,121,968...258,228,265 		JBrowse link
G M Shtn1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,961,790...59,064,536
Ensembl chr19:58,961,788...59,064,532 		JBrowse link
G H SHTN1 shootin 1 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:116,881,477...117,126,586
Ensembl chr10:116,881,477...117,126,586 		JBrowse link
G N Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:29,356,590...29,388,099
Ensembl chrNW_004624737:29,358,696...29,387,808 		JBrowse link
G G SLC18A2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:110,039,783...110,078,822
Ensembl chr 9:110,040,391...110,076,647 		JBrowse link
G P SLC18A2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr14:127,357,605...127,394,242
Ensembl chr14:127,357,555...127,396,533 		JBrowse link
G S Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:7,075,373...7,108,984
Ensembl chrNW_004936486:7,075,358...7,109,637 		JBrowse link
G D SLC18A2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,731,709...27,809,341
Ensembl chr28:27,731,004...27,767,993 		JBrowse link
G B SLC18A2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:113,823,005...113,862,451
Ensembl chr10:117,250,639...117,290,064 		JBrowse link
G C Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:21,949,553...21,979,679
Ensembl chrNW_004955431:21,949,576...21,979,679 		JBrowse link
G R Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:268,399,815...268,435,229
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
G M Slc18a2 solute carrier family 18 (vesicular monoamine), member 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:59,249,310...59,284,444
Ensembl chr19:59,249,328...59,284,444 		JBrowse link
G H SLC18A2 solute carrier family 18 member A2 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
G N Spmip5 sperm microtubule inner protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004624737:29,919,266...29,933,142
Ensembl chrNW_004624737:29,920,316...29,925,686 		JBrowse link
G G SPMIP5 sperm microtubule inner protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 9:109,470,751...109,478,504 JBrowse link
G S Spmip5 sperm microtubule inner protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004936486:6,604,214...6,609,290
Ensembl chrNW_004936486:6,604,359...6,609,370 		JBrowse link
G D SPMIP5 sperm microtubule inner protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr28:27,223,664...27,231,704
Ensembl chr28:27,223,664...27,229,226 		JBrowse link
G B SPMIP5 sperm microtubule inner protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:113,244,452...113,252,155
Ensembl chr10:116,675,032...116,683,079 		JBrowse link
G C Spmip5 sperm microtubule inner protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chrNW_004955431:21,454,858...21,463,068
Ensembl chrNW_004955431:21,455,073...21,462,992 		JBrowse link
G R Spmip5 sperm microtubule inner protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:267,912,696...267,919,413
Ensembl chr 1:257,926,388...257,934,399 		JBrowse link
G M Spmip5 sperm associated microtubule inner protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr19:58,774,233...58,782,846
Ensembl chr19:58,774,235...58,782,893 		JBrowse link
G H SPMIP5 sperm microtubule inner protein 5 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr10:116,662,211...116,670,282
Ensembl chr10:116,663,696...116,670,264 		JBrowse link
G N Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chrNW_004624737:29,489,601...29,496,548
Ensembl chrNW_004624737:29,490,936...29,496,483 		JBrowse link
G G VAX1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr 9:109,925,282...109,935,003
Ensembl chr 9:109,930,708...109,934,763 		JBrowse link
G P VAX1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr14:127,269,723...127,277,007
Ensembl chr14:127,271,566...127,275,744 		JBrowse link
G S Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chrNW_004936486:6,972,972...6,978,544
Ensembl chrNW_004936486:6,974,662...6,978,542 		JBrowse link
G D VAX1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr28:27,624,699...27,628,736
Ensembl chr28:27,623,971...27,628,717 		JBrowse link
G B VAX1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr10:113,710,934...113,720,671 JBrowse link
G C Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chrNW_004955431:21,853,636...21,857,547
Ensembl chrNW_004955431:21,853,636...21,857,547 		JBrowse link
G R Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr 1:268,310,644...268,326,713
Ensembl chr 1:258,326,276...258,330,192 		JBrowse link
G M Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488 		JBrowse link
G H VAX1 ventral anterior homeobox 1 IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic 11
ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition		 ClinVar
OMIM		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr10:117,128,520...117,138,270
Ensembl chr10:117,128,521...117,138,301 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        microphthalmia 2268
          syndromic microphthalmia 955
            syndromic microphthalmia 11 143
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              Eye Abnormalities 8216
                microphthalmia 2268
                  syndromic microphthalmia 955
                    syndromic microphthalmia 11 143
paths to the root