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keratoconus - 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:keratoconus
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Accession:DOID:10126 term browser browse the term
Definition:A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. (DO)
Synonyms:exact_synonym: conical cornea
 primary_id: MESH:D007640
 xref: EFO:0004223;   GARD:6824;   ICD10CM:H18.6;   ICD9CM:371.6;   MIM:PS148300;   MONDO:0015486;   NCI:C26806;   ORDO:156071
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
keratoconus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr16:18,302,145...18,312,768
Ensembl chr16:18,302,142...18,312,756 		JBrowse link
G P ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr12:59,895,476...59,905,900
Ensembl chr12:59,897,496...59,905,897 		JBrowse link
G S Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936881:71,047...77,543
Ensembl chrNW_004936881:70,951...77,839 		JBrowse link
G D ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457 		JBrowse link
G B ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504 		JBrowse link
G C Aldh3a1 aldehyde dehydrogenase 3 family member A1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955467:96,140...105,738
Ensembl chrNW_004955467:96,140...105,738 		JBrowse link
G R Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr10:46,392,464...46,402,151
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G M Aldh3a1 aldehyde dehydrogenase family 3, subfamily A1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr11:61,099,336...61,109,244
Ensembl chr11:61,098,363...61,109,247 		JBrowse link
G H ALDH3A1 aldehyde dehydrogenase 3 family member A1 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr17:19,737,984...19,748,298
Ensembl chr17:19,737,984...19,748,943 		JBrowse link
G N Bdnf brain derived neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490 		JBrowse link
G G BDNF brain derived neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G P BDNF brain derived neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G S Bdnf brain derived neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G D BDNF brain derived neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G B BDNF brain derived neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239 		JBrowse link
G C Bdnf brain derived neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588 		JBrowse link
G R Bdnf brain-derived neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G M Bdnf brain derived neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G H BDNF brain derived neurotrophic factor IEP mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: RGD PMID:23489213 RGD:8655632 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G N Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G P BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G S Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G D BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G B BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G C Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G R Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G M Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G H BMP4 bone morphogenetic protein 4 IEP mRNA:increased expression:keratocyte: RGD PMID:19956410 RGD:8699496 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G H BUB1B-PAK6 BUB1B-PAK6 readthrough IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:40,217,428...40,277,487
Ensembl chr15:40,218,500...40,264,890
Ensembl chr15:40,218,500...40,264,890 		JBrowse link
G N Cntf ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chrNW_004624864:1,785,215...1,788,608
Ensembl chrNW_004624864:1,782,139...1,792,879 		JBrowse link
G G CNTF ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chr 1:14,724,562...14,730,698
Ensembl chr 1:14,728,383...14,730,150 		JBrowse link
G P CNTF ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chr 2:12,492,777...12,495,401
Ensembl chr 2:12,493,169...12,496,159 		JBrowse link
G S Cntf ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chrNW_004936581:3,710,171...3,715,753
Ensembl chrNW_004936581:3,710,160...3,715,638 		JBrowse link
G D CNTF ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chr18:37,758,148...37,765,698 JBrowse link
G B CNTF ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chr11:53,876,081...53,882,870
Ensembl chr11:57,336,792...57,341,121 		JBrowse link
G C Cntf ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chrNW_004955511:3,527,552...3,531,275
Ensembl chrNW_004955511:3,527,552...3,534,348 		JBrowse link
G R Cntf ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:209,887,854...209,889,877 		JBrowse link
G M Cntf ciliary neurotrophic factor ISO mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996 		JBrowse link
G H CNTF ciliary neurotrophic factor IEP mRNA,protein:increased expression:corneal epithelium: RGD PMID:23489213 RGD:8655632 NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733 		JBrowse link
G N Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G P COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G S Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G D COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G B COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G C Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G R Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G M Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G H COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Keratoconus ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G N Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624793:2,325,104...2,426,814
Ensembl chrNW_004624793:2,325,128...2,426,817 		JBrowse link
G G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057 		JBrowse link
G P COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322 		JBrowse link
G S Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		JBrowse link
G D COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		JBrowse link
G B COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529 		JBrowse link
G C Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074 		JBrowse link
G R Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G M Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G H COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G N Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624899:1,035,797...1,175,394
Ensembl chrNW_004624899:1,035,964...1,174,844 		JBrowse link
G G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr10:74,509,704...74,659,251
Ensembl chr10:74,507,772...74,659,366 		JBrowse link
G P COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G S Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936506:8,739,475...8,873,073
Ensembl chrNW_004936506:8,822,517...8,870,836 		JBrowse link
G D COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564 		JBrowse link
G B COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237 		JBrowse link
G C Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955403:9,562,401...9,703,828
Ensembl chrNW_004955403:9,562,401...9,703,828 		JBrowse link
G R Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G M Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G H COL5A2 collagen type V alpha 2 chain IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G N Col5a3 collagen type V alpha 3 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624828:2,216,179...2,254,868 JBrowse link
G G COL5A3 collagen type V alpha 3 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 6:9,033,298...9,092,061
Ensembl chr 6:9,033,287...9,091,826 		JBrowse link
G P COL5A3 collagen type V alpha 3 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:68,828,197...68,869,914
Ensembl chr 2:68,827,562...68,869,888 		JBrowse link
G S Col5a3 collagen type V alpha 3 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936659:401,834...437,896
Ensembl chrNW_004936659:402,637...437,697 		JBrowse link
G D COL5A3 collagen type V alpha 3 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr20:51,037,604...51,075,220
Ensembl chr20:51,037,621...51,074,993 		JBrowse link
G B COL5A3 collagen type V alpha 3 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr19:9,512,028...9,563,306
Ensembl chr19:10,174,519...10,218,974 		JBrowse link
G C Col5a3 collagen type V alpha 3 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955495:1,347,171...1,386,683 JBrowse link
G R Col5a3 collagen type V alpha 3 chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 8:19,304,564...19,349,809
Ensembl chr 8:19,304,571...19,349,853 		JBrowse link
G M Col5a3 collagen, type V, alpha 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:20,681,353...20,726,363
Ensembl chr 9:20,681,346...20,726,363 		JBrowse link
G H COL5A3 collagen type V alpha 3 chain IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr19:9,959,561...10,010,504
Ensembl chr19:9,959,561...10,010,504 		JBrowse link
G N Dab2ip DAB2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624760:13,472,500...13,658,070
Ensembl chrNW_004624760:13,472,672...13,657,930 		JBrowse link
G G DAB2IP DAB2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr12:17,802,030...18,017,648
Ensembl chr12:17,801,831...17,830,890 		JBrowse link
G P DAB2IP DAB2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:261,732,280...261,859,833
Ensembl chr 1:261,659,785...261,859,830 		JBrowse link
G S Dab2ip DAB2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936487:10,056,809...10,243,021
Ensembl chrNW_004936487:10,145,278...10,243,174 		JBrowse link
G D DAB2IP DAB2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:60,725,887...60,918,242
Ensembl chr 9:60,726,809...60,918,139 		JBrowse link
G B DAB2IP DAB2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336 		JBrowse link
G C Dab2ip DAB2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955419:6,229,437...6,416,619
Ensembl chrNW_004955419:6,228,591...6,416,402 		JBrowse link
G R Dab2ip DAB2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:39,312,745...39,483,730
Ensembl chr 3:18,915,290...19,086,280 		JBrowse link
G M Dab2ip disabled 2 interacting protein ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:35,448,285...35,621,006
Ensembl chr 2:35,448,278...35,621,006 		JBrowse link
G H DAB2IP DAB2 interacting protein IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:121,567,074...121,785,530
Ensembl chr 9:121,567,057...121,785,530 		JBrowse link
G N Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624745:27,196,417...27,292,290
Ensembl chrNW_004624745:27,197,068...27,265,087 		JBrowse link
G G DOP1B DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:80,173,127...80,290,958
Ensembl chr 2:80,173,073...80,289,043 		JBrowse link
G P DOP1B DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr13:199,848,022...199,982,484
Ensembl chr13:199,848,044...199,982,512 		JBrowse link
G S Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936500:6,351,529...6,451,632
Ensembl chrNW_004936500:6,351,340...6,451,622 		JBrowse link
G D DOP1B DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr31:31,431,150...31,536,424
Ensembl chr31:31,430,887...31,536,379 		JBrowse link
G B DOP1B DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr21:22,527,124...22,664,287
Ensembl chr21:35,886,846...36,022,790 		JBrowse link
G C Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955407:35,437,765...35,517,861
Ensembl chrNW_004955407:35,437,765...35,517,368 		JBrowse link
G R Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931 		JBrowse link
G M Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr16:93,508,795...93,607,476
Ensembl chr16:93,508,792...93,607,478 		JBrowse link
G H DOP1B DOP1 leucine zipper like protein B IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr21:36,156,824...36,294,274
Ensembl chr21:36,156,782...36,294,274 		JBrowse link
G N Eml6 EMAP like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624833:6,584,173...6,895,939
Ensembl chrNW_004624833:6,585,993...6,895,655 		JBrowse link
G G EML6 EMAP like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr14:51,955,409...52,210,868
Ensembl chr14:51,957,866...52,115,283 		JBrowse link
G P EML6 EMAP like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:86,251,487...86,537,065
Ensembl chr 3:86,252,277...86,536,926 		JBrowse link
G S Eml6 EMAP like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936491:1,153,505...1,407,811
Ensembl chrNW_004936491:1,253,815...1,403,832 		JBrowse link
G D EML6 EMAP like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr10:55,612,328...55,881,804
Ensembl chr10:55,610,805...55,880,485 		JBrowse link
G B EML6 EMAP like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr2A:54,868,502...55,129,398
Ensembl chr2A:56,016,187...56,269,129 		JBrowse link
G C Eml6 EMAP like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955424:28,125,287...28,461,646
Ensembl chrNW_004955424:28,127,825...28,462,003 		JBrowse link
G R Eml6 EMAP like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr14:103,471,537...103,806,120
Ensembl chr14:103,476,372...103,805,849 		JBrowse link
G M Eml6 echinoderm microtubule associated protein like 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr11:29,693,044...29,976,044
Ensembl chr11:29,693,048...29,976,033 		JBrowse link
G H EML6 EMAP like 6 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:54,723,552...54,972,025
Ensembl chr 2:54,723,499...54,972,025 		JBrowse link
G N Fga fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chrNW_004624858:5,848,817...5,856,448 JBrowse link
G G FGA fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chr 7:101,127,554...101,134,881
Ensembl chr 7:101,125,791...101,134,405 		JBrowse link
G P FGA fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202 		JBrowse link
G S Fga fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G D FGA fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975 		JBrowse link
G B FGA fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chr 4:146,949,680...146,957,291 JBrowse link
G C Fga fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chrNW_004955471:8,806,964...8,814,671
Ensembl chrNW_004955471:8,806,650...8,816,791 		JBrowse link
G R Fga fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chr 2:170,672,169...170,679,572
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G M Fga fibrinogen alpha chain ISO protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G H FGA fibrinogen alpha chain IEP protein:decreased expression:tear (human) RGD PMID:24194634 RGD:11040557 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G N Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chrNW_004624730:50,111,873...50,447,035
Ensembl chrNW_004624730:50,111,346...50,450,164 		JBrowse link
G G FNDC3B fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr15:17,060,117...17,428,340
Ensembl chr15:17,059,959...17,428,339 		JBrowse link
G P FNDC3B fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr13:110,587,464...110,931,687
Ensembl chr13:110,587,463...110,928,465 		JBrowse link
G S Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chrNW_004936593:311,245...638,625
Ensembl chrNW_004936593:311,245...566,800 		JBrowse link
G D FNDC3B fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr34:36,373,966...36,640,851
Ensembl chr34:36,302,386...36,637,583 		JBrowse link
G B FNDC3B fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 3:169,047,205...169,408,664
Ensembl chr 3:177,301,873...177,590,367 		JBrowse link
G C Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chrNW_004955420:2,173,804...2,435,324
Ensembl chrNW_004955420:2,114,663...2,438,491 		JBrowse link
G R Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 2:112,240,108...112,546,113
Ensembl chr 2:110,312,694...110,547,830 		JBrowse link
G M Fndc3b fibronectin type III domain containing 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 3:27,470,284...27,765,469
Ensembl chr 3:27,470,311...27,765,456 		JBrowse link
G H FNDC3B fibronectin type III domain containing 3B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 3:172,039,578...172,401,669
Ensembl chr 3:172,039,578...172,401,669 		JBrowse link
G N Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chrNW_004624748:1,413,754...1,529,646
Ensembl chrNW_004624748:1,413,983...1,529,992 		JBrowse link
G G FOXO1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 3:18,916,849...19,027,776
Ensembl chr 3:18,920,651...19,027,707 		JBrowse link
G P FOXO1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr11:15,317,222...15,410,059
Ensembl chr11:15,317,124...15,410,473 		JBrowse link
G S Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chrNW_004936565:5,210,014...5,299,213
Ensembl chrNW_004936565:5,210,014...5,302,436 		JBrowse link
G D FOXO1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825 		JBrowse link
G B FOXO1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr13:21,763,729...21,874,279 JBrowse link
G C Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chrNW_004955431:5,797,359...5,890,758 JBrowse link
G R Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790 		JBrowse link
G M Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr 3:52,175,758...52,257,530
Ensembl chr 3:52,175,757...52,260,642 		JBrowse link
G H FOXO1 forkhead box O1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291589 NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641 		JBrowse link
G N Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chrNW_004624795:577,350...584,110
Ensembl chrNW_004624795:578,571...580,235 		JBrowse link
G G FZD2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chr16:61,837,202...61,839,126
Ensembl chr16:61,837,304...61,839,013 		JBrowse link
G P FZD2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chr12:18,740,417...18,742,301
Ensembl chr12:18,740,653...18,742,420 		JBrowse link
G S Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chrNW_004936541:965,135...967,018
Ensembl chrNW_004936541:965,131...966,798 		JBrowse link
G D FZD2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chr 9:18,888,711...18,890,549
Ensembl chr 9:18,888,696...18,890,525 		JBrowse link
G B FZD2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chr17:12,839,362...12,843,803 JBrowse link
G C Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chrNW_004955451:17,501,410...17,503,726 JBrowse link
G R Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chr10:88,061,988...88,063,898
Ensembl chr10:87,561,326...87,565,334 		JBrowse link
G M Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chr11:102,495,257...102,498,884
Ensembl chr11:102,495,222...102,498,884 		JBrowse link
G H FZD2 frizzled class receptor 2 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar PMID:28492532 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G N Hgf hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chrNW_004624739:30,233,589...30,307,508
Ensembl chrNW_004624739:30,236,146...30,307,356 		JBrowse link
G G HGF hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504 		JBrowse link
G P HGF hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		JBrowse link
G S Hgf hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779 		JBrowse link
G D HGF hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263 		JBrowse link
G B HGF hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811 		JBrowse link
G C Hgf hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058 		JBrowse link
G R Hgf hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G M Hgf hepatocyte growth factor ISO DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G H HGF hepatocyte growth factor IAGP DNA:SNP: : rs2286194(human) RGD PMID:24416191 RGD:8548553 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G N Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G G IGF1R insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G P IGF1R insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		JBrowse link
G S Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G D IGF1R insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387 		JBrowse link
G B IGF1R insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974 		JBrowse link
G C Igf1r insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G R Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G M Igf1r insulin-like growth factor I receptor ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G H IGF1R insulin like growth factor 1 receptor IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G N Il1a interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154 		JBrowse link
G G IL1A interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611 		JBrowse link
G P IL1A interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121 		JBrowse link
G S Il1a interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G D IL1A interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G B IL1A interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G C Il1a interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466 		JBrowse link
G R Il1a interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G M Il1a interleukin 1 alpha ISO DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G H IL1A interleukin 1 alpha IAGP DNA:SNP:intron:rs2071376 (human) RGD PMID:19043479 RGD:7794709 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G N Il1b interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G G IL1B interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G S Il1b interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G D IL1B interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G B IL1B interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G C Il1b interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G R Il1b interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G M Il1b interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G H IL1B interleukin 1 beta IAGP DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G N Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G G IL1RN interleukin 1 receptor antagonist susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G P IL1RN interleukin 1 receptor antagonist susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797
G S Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G D IL1RN interleukin 1 receptor antagonist susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G B IL1RN interleukin 1 receptor antagonist susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839 		JBrowse link
G C Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471 		JBrowse link
G R Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G M Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G H IL1RN interleukin 1 receptor antagonist susceptibility IAGP DNA:snp:intron:c.214+242C>T (human) RGD PMID:23462747 RGD:8549797 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G N Kera keratocan ISO RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas RGD PMID:11683372 RGD:1600400 NCBI chrNW_004624750:15,600,857...15,608,259
Ensembl chrNW_004624750:15,600,703...15,608,320 		JBrowse link
G G KERA keratocan ISO RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas RGD PMID:11683372 RGD:1600400 NCBI chr11:86,467,315...86,475,217
Ensembl chr11:86,468,181...86,473,097 		JBrowse link
G P KERA keratocan ISO RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas RGD PMID:11683372 RGD:1600400 NCBI chr 5:91,794,317...91,802,362
Ensembl chr 5:91,796,324...91,802,468 		JBrowse link
G S Kera keratocan ISO RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas RGD PMID:11683372 RGD:1600400 NCBI chrNW_004936507:7,802,091...7,811,123
Ensembl chrNW_004936507:7,801,577...7,811,196 		JBrowse link
G D KERA keratocan ISO RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas RGD PMID:11683372 RGD:1600400 NCBI chr15:31,750,768...31,758,588
Ensembl chr15:31,670,924...31,758,871 		JBrowse link
G B KERA keratocan ISO RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas RGD PMID:11683372 RGD:1600400 NCBI chr12:88,583,919...88,591,418
Ensembl chr12:91,899,381...91,911,615 		JBrowse link
G C Kera keratocan ISO RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas RGD PMID:11683372 RGD:1600400 NCBI chrNW_004955405:28,256,054...28,263,559
Ensembl chrNW_004955405:28,256,001...28,263,600 		JBrowse link
G R Kera keratocan ISO RGD PMID:11683372 RGD:1600400 NCBI chr 7:32,397,382...32,404,837
Ensembl chr 7:32,397,382...32,404,837 		JBrowse link
G M Kera keratocan ISO RGD PMID:11683372 RGD:1600400 NCBI chr10:97,442,873...97,449,555
Ensembl chr10:97,442,741...97,449,554 		JBrowse link
G H KERA keratocan IEP RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas RGD PMID:11683372 RGD:1600400 NCBI chr12:91,050,491...91,058,024
Ensembl chr12:91,050,491...91,058,024 		JBrowse link
G P KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 6:59,056,497...59,068,225
Ensembl chr 6:59,056,794...59,067,573 		JBrowse link
G H KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr19:54,769,793...54,784,322
Ensembl chr19:54,769,793...54,784,322 		JBrowse link
G R Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050 		JBrowse link
G M Kir3dl1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr  X:135,418,748...135,435,055
Ensembl chr  X:135,418,748...135,435,058 		JBrowse link
G H KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr19:54,816,468...54,830,778
Ensembl chr19:54,816,468...54,830,778 		JBrowse link
G S LOC101955357 uncharacterized LOC101955357 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936862:405,205...413,920
Ensembl chrNW_004936862:404,476...413,561 		JBrowse link
G D LOC102156300 collagen alpha-4(IV) chain ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr24:47,124,847...47,132,516 JBrowse link
G P LOC110258578 interleukin-1 beta-like ISO DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) RGD PMID:23592922 RGD:7401165
G N Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624752:25,605,444...25,756,573
Ensembl chrNW_004624752:25,605,302...25,751,893 		JBrowse link
G G LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr11:12,016,542...12,170,496
Ensembl chr11:12,021,560...12,170,663 		JBrowse link
G P LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,662 		JBrowse link
G S Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936587:5,065,200...5,143,029
Ensembl chrNW_004936587:4,978,043...5,140,191 		JBrowse link
G D LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr27:34,003,334...34,166,334
Ensembl chr27:34,003,539...34,161,437 		JBrowse link
G B LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973 		JBrowse link
G C Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955413:9,080,901...9,237,644
Ensembl chrNW_004955413:9,080,914...9,237,650 		JBrowse link
G R Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 4:168,997,937...169,131,716
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G M Lrp6 low density lipoprotein receptor-related protein 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928 		JBrowse link
G H LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G N Mmp2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G G MMP2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G P MMP2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G S Mmp2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G D MMP2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G B MMP2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G C Mmp2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G R Mmp2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G M Mmp2 matrix metallopeptidase 2 ISO protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G H MMP2 matrix metallopeptidase 2 IEP protein:decreased expression:plasma RGD PMID:22580443 RGD:8657033 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G N Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624766:21,439,023...21,461,108 JBrowse link
G G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:981,515...1,018,242 JBrowse link
G P MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:757,897...790,321 JBrowse link
G S Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936816:129,926...159,396 JBrowse link
G D MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr18:45,471,232...45,498,961 JBrowse link
G B MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr11:1,191,223...1,234,373 JBrowse link
G C Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955476:11,061,405...11,084,294 JBrowse link
G R Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G M Muc5ac mucin 5, subtypes A and C, tracheobronchial/gastric ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968 		JBrowse link
G H MUC5AC mucin 5AC, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138 		JBrowse link
G H NANOGP8 Nanog homeobox retrogene P8 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:35,083,410...35,085,295
Ensembl chr15:35,083,410...35,085,295 		JBrowse link
G N Nbeal2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624730:74,283,938...74,310,340
Ensembl chrNW_004624730:74,284,240...74,310,201 		JBrowse link
G G NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr22:8,385,109...8,414,553
Ensembl chr22:8,385,229...8,414,655 		JBrowse link
G P NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr13:29,847,406...29,881,904
Ensembl chr13:29,855,182...29,878,286 		JBrowse link
G S Nbeal2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936596:758,495...789,252
Ensembl chrNW_004936596:758,495...789,168 		JBrowse link
G D NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr20:41,806,903...41,836,286
Ensembl chr20:41,803,702...41,827,587 		JBrowse link
G B NBEAL2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:46,879,867...46,909,901
Ensembl chr 3:47,987,142...48,010,766 		JBrowse link
G C Nbeal2 neurobeachin like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955420:25,184,574...25,204,870
Ensembl chrNW_004955420:25,184,198...25,205,442 		JBrowse link
G R Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 8:119,481,608...119,511,997
Ensembl chr 8:110,599,389...110,633,707 		JBrowse link
G M Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:110,453,857...110,483,229
Ensembl chr 9:110,453,857...110,483,229 		JBrowse link
G H NBEAL2 neurobeachin like 2 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
G H NBPF19 NBPF member 19 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:149,475,045...149,556,361
Ensembl chr 1:149,475,045...149,556,361 		JBrowse link
G N Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576 		JBrowse link
G G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307 		JBrowse link
G P NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		JBrowse link
G S Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261 		JBrowse link
G D NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382 		JBrowse link
G B NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G C Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179 		JBrowse link
G R Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G M Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G H NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G N Nfatc3 nuclear factor of activated T cells 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624746:18,083,051...18,210,399
Ensembl chrNW_004624746:18,085,518...18,210,401 		JBrowse link
G G NFATC3 nuclear factor of activated T cells 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 5:59,193,139...59,346,361 JBrowse link
G P NFATC3 nuclear factor of activated T cells 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 6:28,666,458...28,806,432
Ensembl chr 6:28,666,549...28,806,419 		JBrowse link
G S Nfatc3 nuclear factor of activated T cells 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936475:18,462,424...18,557,832
Ensembl chrNW_004936475:18,462,298...18,555,220 		JBrowse link
G D NFATC3 nuclear factor of activated T cells 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 5:81,294,656...81,434,256
Ensembl chr 5:81,296,214...81,434,250 		JBrowse link
G B NFATC3 nuclear factor of activated T cells 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr16:48,456,144...48,603,306
Ensembl chr16:67,888,806...67,996,274 		JBrowse link
G C Nfatc3 nuclear factor of activated T cells 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955484:8,433,765...8,558,005
Ensembl chrNW_004955484:8,436,330...8,526,680 		JBrowse link
G R Nfatc3 nuclear factor of activated T-cells 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr19:50,870,464...50,944,992
Ensembl chr19:33,960,852...34,035,150 		JBrowse link
G M Nfatc3 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 8:106,785,450...106,857,169
Ensembl chr 8:106,785,472...106,857,169 		JBrowse link
G H NFATC3 nuclear factor of activated T cells 3 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr16:68,085,370...68,229,259
Ensembl chr16:68,084,751...68,229,259 		JBrowse link
G N Nfe2l3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chrNW_004624739:4,355,768...4,386,834
Ensembl chrNW_004624739:4,355,899...4,386,749 		JBrowse link
G G NFE2L3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr21:32,180,799...32,211,662
Ensembl chr21:32,182,133...32,211,459 		JBrowse link
G P NFE2L3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr18:46,213,392...46,250,309
Ensembl chr18:46,217,517...46,250,256 		JBrowse link
G S Nfe2l3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chrNW_004936478:2,942,536...2,967,930
Ensembl chrNW_004936478:2,942,398...2,967,816 		JBrowse link
G D NFE2L3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr14:39,456,765...39,495,613
Ensembl chr14:39,460,428...39,495,169 		JBrowse link
G B NFE2L3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr 7:26,798,049...26,833,069
Ensembl chr 7:26,402,451...26,435,056 		JBrowse link
G C Nfe2l3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chrNW_004955410:27,999,098...28,031,941
Ensembl chrNW_004955410:27,998,817...28,029,487 		JBrowse link
G R Nfe2l3 NFE2 like bZIP transcription factor 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr 4:81,837,404...81,865,258
Ensembl chr 4:80,506,756...80,534,629 		JBrowse link
G M Nfe2l3 nuclear factor, erythroid derived 2, like 3 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr 6:51,409,649...51,435,752
Ensembl chr 6:51,409,650...51,435,748 		JBrowse link
G H NFE2L3 NFE2 like bZIP transcription factor 3 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr 7:26,152,198...26,187,137
Ensembl chr 7:26,152,198...26,187,137 		JBrowse link
G N Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624804:7,549,847...7,583,409
Ensembl chrNW_004624804:7,549,630...7,584,567 		JBrowse link
G G PAK6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr26:42,737,848...42,798,960
Ensembl chr26:42,737,613...42,750,248 		JBrowse link
G P PAK6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:131,039,313...131,077,420
Ensembl chr 1:131,039,318...131,076,631 		JBrowse link
G S Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936471:3,692,058...3,747,355
Ensembl chrNW_004936471:3,713,406...3,747,356 		JBrowse link
G D PAK6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr30:7,424,410...7,462,265
Ensembl chr30:7,425,948...7,461,815 		JBrowse link
G B PAK6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:19,173,171...19,211,572
Ensembl chr15:37,453,802...37,465,119 		JBrowse link
G C Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955416:7,190,584...7,211,705
Ensembl chrNW_004955416:7,178,524...7,212,053 		JBrowse link
G R Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:126,092,576...126,128,320
Ensembl chr 3:105,638,653...105,672,975 		JBrowse link
G M Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:118,493,531...118,528,501
Ensembl chr 2:118,493,784...118,528,501 		JBrowse link
G H PAK6 p21 (RAC1) activated kinase 6 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:40,239,063...40,277,487
Ensembl chr15:40,217,428...40,277,487 		JBrowse link
G N Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624739:22,737,376...22,772,696
Ensembl chrNW_004624739:22,737,270...22,772,589 		JBrowse link
G G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496 		JBrowse link
G P PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099 		JBrowse link
G S Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936479:17,084,006...17,112,264
Ensembl chrNW_004936479:17,084,920...17,112,258 		JBrowse link
G D PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141 		JBrowse link
G B PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614 		JBrowse link
G C Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955410:11,402,476...11,433,335
Ensembl chrNW_004955410:11,402,520...11,437,422 		JBrowse link
G R Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G M Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658 		JBrowse link
G H PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G N Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624818:1,070,841...1,092,346
Ensembl chrNW_004624818:1,071,505...1,092,237 		JBrowse link
G G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chr20:119,824,380...119,865,866 JBrowse link
G P PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804 		JBrowse link
G S Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:740,582...763,294
Ensembl chrNW_004936474:746,922...765,585 		JBrowse link
G D PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562 		JBrowse link
G B PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308 		JBrowse link
G C Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955486:1,967,771...1,990,561
Ensembl chrNW_004955486:1,967,167...1,990,561 		JBrowse link
G R Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G M Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224 		JBrowse link
G H PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G N Pon1 paraoxonase 1 severity ISO protein:decreased activity:plasma (human)
protein:decreased activity:serum (human)		 RGD PMID:23441349 PMID:24148525 RGD:8547559 RGD:8547774 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G G PON1 paraoxonase 1 severity ISO protein:decreased activity:serum (human)
protein:decreased activity:plasma (human)		 RGD PMID:23441349 PMID:24148525 RGD:8547559 RGD:8547774 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		JBrowse link
G P PON1 paraoxonase 1 severity ISO protein:decreased activity:plasma (human)
protein:decreased activity:serum (human)		 RGD PMID:23441349 PMID:24148525 RGD:8547559 RGD:8547774 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G S Pon1 paraoxonase 1 severity ISO protein:decreased activity:serum (human)
protein:decreased activity:plasma (human)		 RGD PMID:23441349 PMID:24148525 RGD:8547559 RGD:8547774 NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591 		JBrowse link
G D PON1 paraoxonase 1 severity ISO protein:decreased activity:serum (human)
protein:decreased activity:plasma (human)		 RGD PMID:23441349 PMID:24148525 RGD:8547559 RGD:8547774 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G B PON1 paraoxonase 1 severity ISO protein:decreased activity:serum (human)
protein:decreased activity:plasma (human)		 RGD PMID:23441349 PMID:24148525 RGD:8547559 RGD:8547774 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493 		JBrowse link
G C Pon1 paraoxonase 1 severity ISO protein:decreased activity:serum (human)
protein:decreased activity:plasma (human)		 RGD PMID:23441349 PMID:24148525 RGD:8547559 RGD:8547774 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339 		JBrowse link
G R Pon1 paraoxonase 1 severity ISO protein:decreased activity:serum (human)
protein:decreased activity:plasma (human)		 RGD PMID:24148525 PMID:23441349 RGD:8547559, RGD:8547774 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G M Pon1 paraoxonase 1 severity ISO protein:decreased activity:serum (human)
protein:decreased activity:plasma (human)		 RGD PMID:24148525 PMID:23441349 RGD:8547559, RGD:8547774 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G H PON1 paraoxonase 1 severity IEP protein:decreased activity:serum (human)
protein:decreased activity:plasma (human)		 RGD PMID:24148525 PMID:23441349 RGD:8547559, RGD:8547774 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G N Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chrNW_004624743:21,236,965...21,322,791
Ensembl chrNW_004624743:21,236,980...21,322,064 		JBrowse link
G G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chr23:6,562,435...6,639,330
Ensembl chr23:6,571,657...6,641,002 		JBrowse link
G P PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chr 2:108,596,733...108,690,859
Ensembl chr 2:108,585,959...108,690,858 		JBrowse link
G S Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chrNW_004936523:1,321,755...1,418,267
Ensembl chrNW_004936523:1,331,487...1,418,290 		JBrowse link
G D PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chr 3:8,013,879...8,083,177
Ensembl chr 3:8,002,012...8,087,684 		JBrowse link
G B PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chr 5:98,475,410...98,558,189
Ensembl chr 5:104,175,883...104,258,688 		JBrowse link
G C Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chrNW_004955418:10,822,220...10,898,070
Ensembl chrNW_004955418:10,821,782...10,891,482 		JBrowse link
G R Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISS OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chr 9:105,727,906...105,838,159
Ensembl chr 9:98,315,252...98,390,814 		JBrowse link
G M Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 IAGP OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chr 1:97,633,768...97,698,133
Ensembl chr 1:97,633,773...97,698,136 		JBrowse link
G H PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISS OMIM:148300 | OMIM:608586 | OMIM:608932 | OMIM:609271 | OMIM:614622 | OMIM:614623 | OMIM:614628 | OMIM:614629 MouseDO NCBI chr 5:103,120,301...103,212,799
Ensembl chr 5:103,120,149...103,212,799 		JBrowse link
G N Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624758:17,969,777...18,048,476
Ensembl chrNW_004624758:17,969,705...18,049,904 		JBrowse link
G G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 8:20,522,829...20,621,445 JBrowse link
G P PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr14:6,711,789...6,799,318
Ensembl chr14:6,711,442...6,794,667 		JBrowse link
G S Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936555:6,216,202...6,283,012
Ensembl chrNW_004936555:6,236,464...6,283,012 		JBrowse link
G D PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr25:34,732,268...34,839,743
Ensembl chr25:34,725,226...34,838,994 		JBrowse link
G B PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 8:21,690,598...21,791,335
Ensembl chr 8:18,629,261...18,729,995 		JBrowse link
G C Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955403:45,915,985...45,969,350
Ensembl chrNW_004955403:45,916,002...45,968,185 		JBrowse link
G R Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:51,699,586...51,771,763
Ensembl chr15:45,290,373...45,361,832 		JBrowse link
G M Ppp3cc protein phosphatase 3, catalytic subunit, gamma isoform ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr14:70,455,314...70,526,979
Ensembl chr14:70,455,314...70,526,920 		JBrowse link
G H PPP3CC protein phosphatase 3 catalytic subunit gamma IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 8:22,441,078...22,541,125
Ensembl chr 8:22,440,819...22,541,142 		JBrowse link
G N Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624741:29,183,992...29,192,091
Ensembl chrNW_004624741:29,185,300...29,191,863 		JBrowse link
G G PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:667,440...676,380
Ensembl chr 2:667,510...676,109 		JBrowse link
G P PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr17:62,538,853...62,547,866
Ensembl chr17:62,538,855...62,546,870 		JBrowse link
G S Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936514:10,826,013...10,833,170
Ensembl chrNW_004936514:10,826,724...10,832,954 		JBrowse link
G B PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar Ensembl chr20:61,453,386...61,462,951 JBrowse link
G C Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955528:687,996...695,596
Ensembl chrNW_004955528:687,996...695,596 		JBrowse link
G R Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:188,684,633...188,693,224
Ensembl chr 3:168,307,073...168,315,664 		JBrowse link
G M Ptk6 PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:180,836,917...180,845,408
Ensembl chr 2:180,835,514...180,844,582 		JBrowse link
G H PTK6 protein tyrosine kinase 6 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376 		JBrowse link
G H TRA T cell receptor alpha locus IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr14:21,621,904...22,552,132 JBrowse link
G M Trav16 T cell receptor alpha variable 16 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr14:53,980,631...53,981,162
Ensembl chr14:53,980,561...53,981,162 		JBrowse link
G H TRAV19 T cell receptor alpha variable 19 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr14:22,007,629...22,008,181
Ensembl chr14:22,007,512...22,008,181 		JBrowse link
G H TRB T cell receptor beta locus IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 7:142,299,011...142,813,287 JBrowse link
G H TRBV12-5 T cell receptor beta variable 12-5 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 7:142,580,981...142,581,427
Ensembl chr 7:142,580,917...142,581,427 		JBrowse link
G M Trbv16 T cell receptor beta, variable 16 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 6:41,128,725...41,129,164
Ensembl chr 6:41,128,674...41,129,164 		JBrowse link
G N Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chrNW_004624760:3,479,028...3,536,612
Ensembl chrNW_004624760:3,498,692...3,532,011 		JBrowse link
G G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157 		JBrowse link
G P TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951 		JBrowse link
G S Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chrNW_004936487:19,331,183...19,386,841
Ensembl chrNW_004936487:19,331,194...19,386,892 		JBrowse link
G D TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677 		JBrowse link
G B TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759 		JBrowse link
G C Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chrNW_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992 		JBrowse link
G R Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G M Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G H TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar PMID:25741868 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G N Tsc22d2 TSC22 domain family member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624730:27,821,638...27,869,805
Ensembl chrNW_004624730:27,821,862...27,863,344 		JBrowse link
G G TSC22D2 TSC22 domain family member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr15:40,232,247...40,284,936
Ensembl chr15:40,233,732...40,283,899 		JBrowse link
G P TSC22D2 TSC22 domain family member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr13:90,640,490...90,697,671
Ensembl chr13:90,641,175...90,691,568 		JBrowse link
G S Tsc22d2 TSC22 domain family member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936758:845,359...898,937
Ensembl chrNW_004936758:845,528...892,059 		JBrowse link
G D TSC22D2 TSC22 domain family member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr23:45,086,583...45,136,094
Ensembl chr23:45,087,628...45,133,903 		JBrowse link
G B TSC22D2 TSC22 domain family member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:147,426,058...147,484,285
Ensembl chr 3:155,001,006...155,050,323 		JBrowse link
G C Tsc22d2 TSC22 domain family member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955448:1,639,463...1,678,279 JBrowse link
G R Tsc22d2 TSC22 domain family, member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:142,646,778...142,697,977
Ensembl chr 2:142,644,744...142,693,606 		JBrowse link
G M Tsc22d2 TSC22 domain family, member 2 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:58,322,123...58,374,208
Ensembl chr 3:58,322,136...58,374,204 		JBrowse link
G H TSC22D2 TSC22 domain family member 2 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:150,408,298...150,466,422
Ensembl chr 3:150,408,298...150,466,422 		JBrowse link
G N Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624805:5,775,019...5,781,957
Ensembl chrNW_004624805:5,775,019...5,781,957 		JBrowse link
G G UCMA upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 9:13,262,924...13,276,091
Ensembl chr 9:13,263,264...13,275,328 		JBrowse link
G P UCMA upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr10:48,460,713...48,471,213
Ensembl chr10:48,460,688...48,471,286 		JBrowse link
G D UCMA upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:23,287,410...23,307,116
Ensembl chr 2:23,287,551...23,298,035 		JBrowse link
G B UCMA upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr10:13,223,897...13,237,230
Ensembl chr10:13,196,867...13,209,494 		JBrowse link
G C Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955462:1,195,738...1,204,255
Ensembl chrNW_004955462:1,195,608...1,204,266 		JBrowse link
G R Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr17:73,293,977...73,303,709
Ensembl chr17:73,293,978...73,303,611 		JBrowse link
G M Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:4,980,933...4,990,559
Ensembl chr 2:4,980,933...4,990,559 		JBrowse link
G H UCMA upper zone of growth plate and cartilage matrix associated IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr10:13,221,766...13,234,374
Ensembl chr10:13,221,766...13,234,374 		JBrowse link
G N Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004624772:11,401,277...11,453,870
Ensembl chrNW_004624772:11,401,660...11,448,569 		JBrowse link
G G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar
G P VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 4:104,994,341...105,048,853
Ensembl chr 4:104,996,073...105,048,775 		JBrowse link
G S Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004936627:942,570...992,081
Ensembl chrNW_004936627:942,483...992,071 		JBrowse link
G D VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr17:53,174,080...53,227,616
Ensembl chr17:53,174,127...53,220,765 		JBrowse link
G B VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552 		JBrowse link
G C Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chrNW_004955435:18,890,995...18,933,258
Ensembl chrNW_004955435:18,882,565...18,933,258 		JBrowse link
G R Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 2:192,277,762...192,326,151
Ensembl chr 2:189,589,229...189,637,619 		JBrowse link
G M Vangl1 VANGL planar cell polarity 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009 		JBrowse link
G H VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
G N Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23592923 PMID:24033266 PMID:28492532 NCBI chrNW_004624939:375,749...381,823 JBrowse link
G G VSX1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23592923 PMID:24033266 PMID:28492532
G P VSX1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23592923 PMID:24033266 PMID:28492532 NCBI chr17:30,848,497...30,856,014
Ensembl chr17:30,848,484...30,856,213 		JBrowse link
G S Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23592923 PMID:24033266 PMID:28492532 NCBI chrNW_004936620:710,917...718,205
Ensembl chrNW_004936620:710,671...718,595 		JBrowse link
G D VSX1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23592923 PMID:24033266 PMID:28492532 NCBI chr23:1,268,465...1,274,854
Ensembl chr23:1,269,139...1,274,784 		JBrowse link
G B VSX1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23592923 PMID:24033266 PMID:28492532 NCBI chr20:25,011,149...25,025,545
Ensembl chr20:25,361,216...25,372,705 		JBrowse link
G C Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23592923 PMID:24033266 PMID:28492532 NCBI chrNW_004955415:31,174,155...31,180,718
Ensembl chrNW_004955415:31,175,452...31,180,655 		JBrowse link
G R Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratoconus		 CTD
ClinVar		 PMID:11978762 PMID:15623752 PMID:23592923 PMID:24033266 PMID:28492532 NCBI chr 3:159,974,693...159,982,292
Ensembl chr 3:139,514,270...139,521,869 		JBrowse link
G M Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratoconus		 CTD
ClinVar		 PMID:11978762 PMID:15623752 PMID:23592923 PMID:24033266 PMID:28492532 NCBI chr 2:150,522,622...150,531,057
Ensembl chr 2:150,522,622...150,531,280 		JBrowse link
G H VSX1 visual system homeobox 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratoconus		 CTD
ClinVar		 PMID:11978762 PMID:15623752 PMID:23592923 PMID:24033266 PMID:28492532 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
G N Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chrNW_004624816:3,209,605...3,212,969
Ensembl chrNW_004624816:3,209,699...3,212,606 		JBrowse link
G G WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chr11:45,217,402...45,222,996
Ensembl chr11:45,219,027...45,222,017 		JBrowse link
G P WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chr 5:15,010,607...15,015,007
Ensembl chr 5:15,010,786...15,014,998 		JBrowse link
G S Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chrNW_004936512:6,781,001...6,785,358
Ensembl chrNW_004936512:6,780,882...6,785,358 		JBrowse link
G D WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chr27:5,588,151...5,592,254
Ensembl chr27:5,574,940...5,592,060 		JBrowse link
G B WNT1 Wnt family member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chr12:39,767,839...39,772,460
Ensembl chr12:40,648,413...40,652,583 		JBrowse link
G C Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chrNW_004955500:7,797,063...7,811,142
Ensembl chrNW_004955500:7,797,060...7,811,167 		JBrowse link
G R Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chr 7:131,817,558...131,821,605
Ensembl chr 7:129,938,604...129,942,651 		JBrowse link
G M Wnt1 wingless-type MMTV integration site family, member 1 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chr15:98,687,738...98,691,711
Ensembl chr15:98,687,738...98,691,718 		JBrowse link
G H WNT1 Wnt family member 1 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar PMID:23434763 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620 		JBrowse link
G R Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chr19:67,190,901...67,232,569 JBrowse link
G M Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
G N Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chrNW_004624746:1,043,117...1,074,776 JBrowse link
G G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chr 5:73,762,456...73,820,262 JBrowse link
G P ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		JBrowse link
G S Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chrNW_004936641:1,193,085...1,205,283 JBrowse link
G D ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chr 5:64,887,534...64,903,553 JBrowse link
G B ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390 		JBrowse link
G C Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chrNW_004955541:2,404,549...2,438,183 JBrowse link
G H ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Keratoconus ClinVar PMID:24895405 PMID:25741868 PMID:28492532 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ANKRD34C-AS1 ANKRD34C antisense RNA 1 IAGP ClinVar Annotator: match by term: EDICT syndrome ClinVar PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr15:79,191,707...79,283,945
Ensembl chr15:79,123,546...79,283,967 		JBrowse link
G P MIR184 microRNA mir-184 ISO ClinVar Annotator: match by term: EDICT syndrome OMIM
ClinVar		 PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 7:48,345,017...48,345,099
Ensembl chr 7:48,345,017...48,345,099 		JBrowse link
G D MIR184 microRNA mir-184 ISO ClinVar Annotator: match by term: EDICT syndrome OMIM
ClinVar		 PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 3:57,914,444...57,914,511
Ensembl chr 3:57,914,444...57,914,511 		JBrowse link
G R Mir184 microRNA 184 ISO ClinVar Annotator: match by term: EDICT syndrome OMIM
ClinVar		 PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210 		JBrowse link
G M Mir184 microRNA 184 ISO ClinVar Annotator: match by term: EDICT syndrome OMIM
ClinVar		 PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 9:89,684,313...89,684,381
Ensembl chr 9:89,684,313...89,684,381 		JBrowse link
G H MIR184 microRNA 184 IAGP ClinVar Annotator: match by term: EDICT syndrome ClinVar
OMIM		 PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr15:79,209,788...79,209,871
Ensembl chr15:79,209,788...79,209,871 		JBrowse link
Keratoconus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:25741868 NCBI chrNW_004624754:3,511,947...3,556,131
Ensembl chrNW_004624754:3,511,730...3,556,184 		JBrowse link
G G HKDC1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:25741868 NCBI chr 9:62,051,098...62,099,986
Ensembl chr 9:62,052,027...62,099,221 		JBrowse link
G P HKDC1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:25741868 NCBI chr14:72,285,941...72,343,990
Ensembl chr14:72,283,845...72,335,886 		JBrowse link
G S Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:25741868 NCBI chrNW_004936521:9,175,916...9,223,546
Ensembl chrNW_004936521:9,175,447...9,223,583 		JBrowse link
G D HKDC1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:25741868 NCBI chr 4:20,353,941...20,395,429
Ensembl chr 4:20,353,355...20,394,634 		JBrowse link
G B HKDC1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:25741868 NCBI chr10:65,687,378...65,734,281
Ensembl chr10:68,220,475...68,267,321 		JBrowse link
G C Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:25741868 NCBI chrNW_004955437:21,825,647...21,873,698
Ensembl chrNW_004955437:21,825,397...21,868,435 		JBrowse link
G R Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:25741868 NCBI chr20:30,878,037...30,917,044
Ensembl chr20:30,335,628...30,373,867 		JBrowse link
G M Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:25741868 NCBI chr10:62,218,916...62,259,490
Ensembl chr10:62,218,916...62,258,270 		JBrowse link
G H HKDC1 hexokinase domain containing 1 IAGP ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:25741868 NCBI chr10:69,220,332...69,267,552
Ensembl chr10:69,220,332...69,267,552 		JBrowse link
G N Il17b interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004624774:8,733,264...8,763,150
Ensembl chrNW_004624774:8,732,471...8,739,331 		JBrowse link
G G IL17B interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr23:51,992,877...52,001,280
Ensembl chr23:51,993,258...51,998,043 		JBrowse link
G P IL17B interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 2:150,513,611...150,583,640
Ensembl chr 2:150,541,180...150,545,367 		JBrowse link
G S Il17b interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004936504:5,485,009...5,489,788
Ensembl chrNW_004936504:5,482,972...5,489,899 		JBrowse link
G D IL17B interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 4:59,578,568...59,584,069
Ensembl chr 4:59,543,080...59,583,968 		JBrowse link
G B IL17B interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 5:144,800,664...144,842,788
Ensembl chr 5:150,811,055...150,815,930 		JBrowse link
G C Il17b interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004955415:5,037,270...5,047,405
Ensembl chrNW_004955415:5,041,375...5,047,449 		JBrowse link
G R Il17b interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr18:55,141,194...55,145,565
Ensembl chr18:55,141,194...55,145,565 		JBrowse link
G M Il17b interleukin 17B ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr18:61,821,006...61,825,609
Ensembl chr18:61,817,958...61,825,609 		JBrowse link
G H IL17B interleukin 17B IAGP ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 5:149,374,267...149,404,202
Ensembl chr 5:149,371,324...149,404,202 		JBrowse link
G H LOC129994769 ATAC-STARR-seq lymphoblastoid silent region 16411 IAGP ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 5:139,394,330...139,394,619 JBrowse link
G N Prob1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004624743:32,195,026...32,199,784
Ensembl chrNW_004624743:32,196,485...32,199,499 		JBrowse link
G G PROB1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr23:42,063,062...42,067,649
Ensembl chr23:42,064,506...42,067,541 		JBrowse link
G P PROB1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 2:141,280,252...141,286,618
Ensembl chr 2:141,282,086...141,285,145 		JBrowse link
G S Prob1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004936531:8,477,562...8,483,159
Ensembl chrNW_004936531:8,479,289...8,482,315 		JBrowse link
G D PROB1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 2:34,713,286...34,719,568
Ensembl chr 2:34,714,399...34,717,786 		JBrowse link
G B PROB1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 5:134,761,660...134,767,557
Ensembl chr 5:140,885,875...140,888,922 		JBrowse link
G C Prob1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004955418:1,163,993...1,169,968 JBrowse link
G R Prob1 proline-rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr18:27,242,511...27,247,355
Ensembl chr18:27,244,280...27,247,333 		JBrowse link
G M Prob1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr18:35,783,400...35,788,274
Ensembl chr18:35,783,404...35,788,291 		JBrowse link
G H PROB1 proline rich basic protein 1 IAGP ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 5:139,390,592...139,395,104
Ensembl chr 5:139,390,592...139,395,104 		JBrowse link
G N Skp1 S-phase kinase associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004624733:38,051,280...38,069,648 JBrowse link
G G SKP1 S-phase kinase associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr23:36,961,572...36,978,849
Ensembl chr23:36,962,328...36,978,757 		JBrowse link
G P SKP1 S-phase kinase associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 2:136,458,772...136,476,364
Ensembl chr 2:136,458,949...136,476,005 		JBrowse link
G S Skp1 S-phase kinase associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004936647:1,073,647...1,090,841
Ensembl chrNW_004936647:1,072,855...1,094,139 		JBrowse link
G D SKP1 S-phase kinase associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr11:22,352,735...22,366,599
Ensembl chr11:22,352,439...22,364,024 		JBrowse link
G B SKP1 S-phase kinase associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 5:129,560,086...129,580,188
Ensembl chr 5:135,713,085...135,729,653 		JBrowse link
G C Skp1 S-phase kinase associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004955408:5,393,851...5,412,644
Ensembl chrNW_004955408:5,392,839...5,412,644 		JBrowse link
G R Skp1 S-phase kinase-associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr10:36,898,670...36,917,828
Ensembl chr10:36,402,153...36,417,388 		JBrowse link
G M Skp1 S-phase kinase-associated protein 1 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr11:52,121,349...52,137,685
Ensembl chr11:52,122,822...52,137,685 		JBrowse link
G H SKP1 S-phase kinase associated protein 1 IAGP ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 5:134,148,935...134,176,950
Ensembl chr 5:134,148,935...134,176,964 		JBrowse link
G N Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004624743:32,201,285...32,207,197
Ensembl chrNW_004624743:32,201,286...32,207,177 		JBrowse link
G G SPATA24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr23:42,069,223...42,077,304
Ensembl chr23:42,069,256...42,076,480 		JBrowse link
G P SPATA24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 2:141,286,870...141,293,232
Ensembl chr 2:141,286,880...141,293,227 		JBrowse link
G S Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004936531:8,484,192...8,490,205
Ensembl chrNW_004936531:8,483,834...8,490,249 		JBrowse link
G D SPATA24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 2:34,719,710...34,724,880
Ensembl chr 2:34,719,713...34,724,843 		JBrowse link
G B SPATA24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 5:134,767,828...134,775,171
Ensembl chr 5:140,890,610...140,897,927 		JBrowse link
G C Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chrNW_004955418:1,157,089...1,163,897
Ensembl chrNW_004955418:1,157,089...1,165,636 		JBrowse link
G R Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr18:27,249,047...27,257,129
Ensembl chr18:27,248,609...27,257,124 		JBrowse link
G M Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr18:35,789,742...35,795,239
Ensembl chr18:35,789,742...35,795,239 		JBrowse link
G H SPATA24 spermatogenesis associated 24 IAGP ClinVar Annotator: match by term: Keratoconus 1 ClinVar NCBI chr 5:139,392,500...139,404,089
Ensembl chr 5:139,396,563...139,404,089 		JBrowse link
G N Vsx1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
DNA:missense mutation:cds:p.D144E (human)
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)		 OMIM
ClinVar
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:17960127 More... RGD:8657045 RGD:8657052 NCBI chrNW_004624939:375,749...381,823 JBrowse link
G G VSX1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
DNA:missense mutation:cds:p.D144E (human)
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)		 OMIM
ClinVar
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:17960127 More... RGD:8657045 RGD:8657052
G P VSX1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)
DNA:missense mutation:cds:p.D144E (human)		 OMIM
ClinVar
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:17960127 More... RGD:8657045 RGD:8657052 NCBI chr17:30,848,497...30,856,014
Ensembl chr17:30,848,484...30,856,213 		JBrowse link
G S Vsx1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
DNA:missense mutation:cds:p.D144E (human)
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)		 OMIM
ClinVar
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:17960127 More... RGD:8657045 RGD:8657052 NCBI chrNW_004936620:710,917...718,205
Ensembl chrNW_004936620:710,671...718,595 		JBrowse link
G D VSX1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)
DNA:missense mutation:cds:p.D144E (human)		 OMIM
ClinVar
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:17960127 More... RGD:8657045 RGD:8657052 NCBI chr23:1,268,465...1,274,854
Ensembl chr23:1,269,139...1,274,784 		JBrowse link
G B VSX1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)
DNA:missense mutation:cds:p.D144E (human)		 OMIM
ClinVar
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:17960127 More... RGD:8657045 RGD:8657052 NCBI chr20:25,011,149...25,025,545
Ensembl chr20:25,361,216...25,372,705 		JBrowse link
G C Vsx1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
DNA:missense mutation:cds:p.D144E (human)
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)		 OMIM
ClinVar
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:17960127 More... RGD:8657045 RGD:8657052 NCBI chrNW_004955415:31,174,155...31,180,718
Ensembl chrNW_004955415:31,175,452...31,180,655 		JBrowse link
G R Vsx1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)
DNA:missense mutation:cds:p.D144E (human)
DNA:missense mutation:cds:p.G239R (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A (human)		 OMIM
ClinVar
CTD
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:18216574 More... RGD:8657052, RGD:8657045, RGD:8657037, RGD:8657034, RGD:8657032 NCBI chr 3:159,974,693...159,982,292
Ensembl chr 3:139,514,270...139,521,869 		JBrowse link
G M Vsx1 visual system homeobox 1 no_association ISO ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.G239R (human)
DNA:missense mutation:cds:p.D144E (human)
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)		 OMIM
ClinVar
CTD
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:18216574 More... RGD:8657032, RGD:8657034, RGD:8657037, RGD:8657045, RGD:8657052 NCBI chr 2:150,522,622...150,531,057
Ensembl chr 2:150,522,622...150,531,280 		JBrowse link
G H VSX1 visual system homeobox 1 no_association IAGP
EXP		 DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A (human)
ClinVar Annotator: match by term: VSX1-related condition
ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)
DNA:missense mutation:cds:p.D144E (human)
DNA:missense mutation:cds:p.G239R (human)
DNA:missense mutations:cds:multiple (human)		 ClinVar
CTD
OMIM
RGD		 PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:18216574 More... RGD:8657032, RGD:8657052, RGD:8657045, RGD:8657037, RGD:8657034 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
G R Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chr19:67,190,901...67,232,569 JBrowse link
G M Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
G N Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chrNW_004624746:1,043,117...1,074,776 JBrowse link
G G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chr 5:73,762,456...73,820,262 JBrowse link
G P ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		JBrowse link
G S Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chrNW_004936641:1,193,085...1,205,283 JBrowse link
G D ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chr 5:64,887,534...64,903,553 JBrowse link
G B ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390 		JBrowse link
G C Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chrNW_004955541:2,404,549...2,438,183 JBrowse link
G H ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Keratoconus 1 ClinVar PMID:24895405 PMID:25564447 PMID:25741868 PMID:28492532 PMID:29228253 More... NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
Keratoconus 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chrNW_004624908:1,970,739...1,977,750
Ensembl chrNW_004624908:1,971,064...1,976,152 		JBrowse link
G G HOMER3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chr 6:17,385,176...17,396,506
Ensembl chr 6:17,385,175...17,394,319 		JBrowse link
G P HOMER3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chr 2:58,913,949...58,922,474
Ensembl chr 2:58,913,992...58,922,474 		JBrowse link
G S Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chrNW_004936596:2,406,427...2,413,651
Ensembl chrNW_004936596:2,406,326...2,413,604 		JBrowse link
G D HOMER3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chr20:44,179,145...44,186,814
Ensembl chr20:44,179,153...44,186,814 		JBrowse link
G B HOMER3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chr19:18,367,191...18,379,454
Ensembl chr19:19,374,442...19,385,392 		JBrowse link
G C Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chrNW_004955524:2,754,970...2,760,198
Ensembl chrNW_004955524:2,755,367...2,760,198 		JBrowse link
G R Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chr16:19,166,141...19,176,701
Ensembl chr16:19,132,162...19,142,680 		JBrowse link
G M Homer3 homer scaffolding protein 3 ISO ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chr 8:70,735,529...70,747,011
Ensembl chr 8:70,735,477...70,747,011 		JBrowse link
G H HOMER3 homer scaffold protein 3 IAGP ClinVar Annotator: match by term: Keratoconus 5 ClinVar NCBI chr19:18,929,201...18,941,217
Ensembl chr19:18,929,201...18,941,261 		JBrowse link
Keratoconus 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P LOC100153925 mitotic-spindle organizing protein 2B ISO ClinVar Annotator: match by term: Keratoconus 9 ClinVar PMID:29051577 NCBI chr14:50,658,328...50,664,549 JBrowse link
G P LOC100510930 tubulin alpha-3 chain ISO ClinVar Annotator: match by term: Keratoconus 9 OMIM
ClinVar		 PMID:29051577 NCBI chr14:50,594,115...50,600,789 JBrowse link
G D LOC608051 tubulin alpha-3 chain ISO ClinVar Annotator: match by term: Keratoconus 9 OMIM
ClinVar		 PMID:29051577 NCBI chr26:30,428,955...30,437,431
Ensembl chr26:30,428,954...30,437,353 		JBrowse link
G M Mzt2 mitotic spindle organizing protein 2 ISO ClinVar Annotator: match by term: Keratoconus 9 ClinVar PMID:29051577 NCBI chr16:15,666,305...15,681,233
Ensembl chr16:15,666,305...15,681,233 		JBrowse link
G H MZT2A mitotic spindle organizing protein 2A IAGP ClinVar Annotator: match by term: Keratoconus 9 ClinVar PMID:29051577 NCBI chr 2:131,469,728...131,493,754
Ensembl chr 2:131,464,900...131,492,743 		JBrowse link
G R Mzt2b mitotic spindle organizing protein 2B ISO ClinVar Annotator: match by term: Keratoconus 9 ClinVar PMID:29051577 NCBI chr11:85,024,120...85,031,960
Ensembl chr11:85,024,315...85,031,167 		JBrowse link
G R Tuba3b tubulin, alpha 3B ISO ClinVar Annotator: match by term: Keratoconus 9 ClinVar
OMIM		 PMID:29051577 NCBI chr 4:180,319,600...180,325,149
Ensembl chr 4:178,588,779...178,594,326 		JBrowse link
G M Tuba3b tubulin, alpha 3B ISO ClinVar Annotator: match by term: Keratoconus 9 ClinVar
OMIM		 PMID:29051577 NCBI chr 6:145,561,689...145,567,203
Ensembl chr 6:145,561,483...145,567,205 		JBrowse link
G H TUBA3D tubulin alpha 3d IAGP ClinVar Annotator: match by term: Keratoconus 9 OMIM
ClinVar		 PMID:29051577 NCBI chr 2:131,476,119...131,482,934
Ensembl chr 2:131,476,119...131,482,934 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        corneal disease 2564
          keratoconus 575
            EDICT Syndrome 6
            Keratoconus 1 71
            Keratoconus 2 0
            Keratoconus 3 0
            Keratoconus 4 0
            Keratoconus 5 10
            Keratoconus 6 0
            Keratoconus 7 0
            Keratoconus 8 0
            Keratoconus 9 9
            Keratoconus Posticus Circumscriptus + 0
            Keratoconus and Congenital Hip Dysplasia 0
            Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 0
            Noninflammatory Corneal Thinning 0
            acute hydrops keratoconus 0
            stable condition keratoconus 0
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              corneal disease 2564
                keratoconus 575
                  EDICT Syndrome 6
                  Keratoconus 1 71
                  Keratoconus 2 0
                  Keratoconus 3 0
                  Keratoconus 4 0
                  Keratoconus 5 10
                  Keratoconus 6 0
                  Keratoconus 7 0
                  Keratoconus 8 0
                  Keratoconus 9 9
                  Keratoconus Posticus Circumscriptus + 0
                  Keratoconus and Congenital Hip Dysplasia 0
                  Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 0
                  Noninflammatory Corneal Thinning 0
                  acute hydrops keratoconus 0
                  stable condition keratoconus 0
paths to the root