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.
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17075842
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Foxc2
forkhead box C2
ISO
lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA
RGD
PMID:15523639
RGD:1601217
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17075842
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Colec11
collectin sub-family member 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3MC syndrome 2
OMIM CTD ClinVar
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
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Masp1
MBL associated serine protease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258343
NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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Slc26a2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: OSA syndrome
ClinVar
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 More...
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Actb
actin, beta
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar
PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 PMID:19252504 PMID:22366783 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25255767 PMID:25741868 PMID:26467025 PMID:26583190 PMID:27862284 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29788902 PMID:30315159 PMID:31970217 PMID:32170967 PMID:33446253 PMID:35005077 More...
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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Actg1
actin, gamma 1
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome
ClinVar
PMID:31231230 PMID:32028042
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Actb
actin, beta
ISO
ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
OMIM ClinVar
PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:17576681 PMID:18414213 PMID:19252504 PMID:22366783 PMID:22495914 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25255767 PMID:25640679 PMID:25741868 PMID:25979418 PMID:26275891 PMID:26297194 PMID:26467025 PMID:26583190 PMID:26713879 PMID:26795593 PMID:27633570 PMID:27862284 PMID:27866048 PMID:27868373 PMID:28128450 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:28991257 PMID:29220674 PMID:29788902 PMID:30315159 PMID:30733661 PMID:31625567 PMID:31898838 PMID:31970217 PMID:32170967 PMID:32368696 PMID:32860008 PMID:32901917 PMID:33446253 PMID:35005077 PMID:35182466 PMID:35313204 PMID:35401677 PMID:36474027 More...
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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Actg1
actin, gamma 1
ISO
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar
PMID:31231230 PMID:32028042
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Ap5z1
adaptor related protein complex 5 subunit zeta 1
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
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Fbxl18
F-box and leucine-rich repeat protein 18
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:11,674,538...11,701,317
Ensembl chr12:11,676,115...11,699,181
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Fscn1
fascin actin-bundling protein 1
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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Mmd2
monocyte to macrophage differentiation-associated 2
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:11,962,733...12,009,776
Ensembl chr12:11,962,757...12,009,773
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Papolb
poly(A) polymerase beta
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:12,044,275...12,046,621
Ensembl chr12:12,044,480...12,046,656
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Radil
Rap associating with DIL domain
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:12,024,395...12,088,540
Ensembl chr12:12,024,395...12,088,540
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Rbak
RB-associated KRAB zinc finger
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:11,375,314...11,388,937
Ensembl chr12:11,375,318...11,388,934
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Rnf216
ring finger protein 216
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
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Slc29a4
solute carrier family 29 member 4
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:11,853,540...11,884,660
Ensembl chr12:11,853,540...11,874,834
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Tnrc18
trinucleotide repeat containing 18
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:11,755,394...11,851,717
Ensembl chr12:11,755,392...11,851,384
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Wipi2
WD repeat domain, phosphoinositide interacting 2
ISO
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar
PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838
NCBI chr12:11,911,369...11,939,799
Ensembl chr12:11,911,337...11,939,794
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Actg1
actin, gamma 1
ISO
ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2
OMIM ClinVar
PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 PMID:17576681 PMID:18414213 PMID:19419963 PMID:19548389 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:26188271 PMID:26467025 PMID:27240540 PMID:27625340 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29758562 PMID:29986705 PMID:30008475 PMID:30143558 PMID:30622556 PMID:31116477 PMID:32341388 PMID:33584783 PMID:33604570 PMID:34448047 More...
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Twist2
twist family bHLH transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Barber-Say syndrome
OMIM CTD ClinVar
PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 PMID:20799330 PMID:20830793 PMID:25741868 PMID:26119818 PMID:27092433 PMID:28680619 More...
NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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Drd5
dopamine receptor D5
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774
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Muc1
mucin 1, cell surface associated
ISO
RGD
PMID:10359313
RGD:7349379
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Cdh1
cadherin 1
ISO
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1
OMIM ClinVar
PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 PMID:11332401 PMID:11598162 PMID:11747475 PMID:11948460 PMID:12588804 PMID:12800196 PMID:14500541 PMID:15235021 PMID:16061854 PMID:16501831 PMID:16787116 PMID:16801346 PMID:16924464 PMID:17221870 PMID:17522512 PMID:17545690 PMID:18442100 PMID:19139070 PMID:19268661 PMID:19269290 PMID:19725995 PMID:20233471 PMID:20373070 PMID:20719348 PMID:20921021 PMID:21106365 PMID:21271559 PMID:21424370 PMID:22470475 PMID:22703879 PMID:22723466 PMID:23197654 PMID:23264079 PMID:23709761 PMID:24033266 PMID:24204729 PMID:24326041 PMID:24493355 PMID:24690483 PMID:24728327 PMID:24755471 PMID:25067988 PMID:25123297 PMID:25186627 PMID:25231023 PMID:25593300 PMID:25637381 PMID:25741868 PMID:25882375 PMID:25980754 PMID:26072394 PMID:26123647 PMID:26182300 PMID:26206375 PMID:26467025 PMID:26483394 PMID:26580448 PMID:26681312 PMID:26759166 PMID:26845104 PMID:26893459 PMID:27146957 PMID:27153395 PMID:27227907 PMID:27443514 PMID:27566442 PMID:27582386 PMID:27616075 PMID:27621404 PMID:27930734 PMID:27978560 PMID:28135145 PMID:28301459 PMID:28492532 PMID:28608266 PMID:28640387 PMID:28688938 PMID:28767289 PMID:28873162 PMID:28944238 PMID:28961279 PMID:28993866 PMID:29025585 PMID:29348693 PMID:29470806 PMID:29492670 PMID:29522266 PMID:29577179 PMID:29589180 PMID:29641532 PMID:29752822 PMID:30089731 PMID:30287823 PMID:30306255 PMID:30311375 PMID:30374176 PMID:30426508 PMID:30661051 PMID:31159747 PMID:31514334 PMID:31589614 PMID:31742824 PMID:31871109 PMID:32260281 PMID:32269045 PMID:32283892 PMID:32566746 PMID:32658311 PMID:32842532 PMID:33193653 PMID:33471991 PMID:33619332 PMID:33980423 PMID:34326862 PMID:34471991 PMID:35089076 PMID:36271359 PMID:36436516 PMID:36474027 PMID:36605468 PMID:36988593 More...
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Ctnnd1
catenin delta 1
ISO
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
OMIM ClinVar
PMID:25741868 PMID:28301459 PMID:29805042 PMID:32196547
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Blepharophimosis
ClinVar
PMID:23806086 PMID:24088041 PMID:24674232 PMID:25741868
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Huwe1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Blepharophimosis
ClinVar
PMID:25741868
NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Blepharophimosis
ClinVar
PMID:25741868
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Blepharophimosis
ClinVar
PMID:25741868
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Snx9
sorting nexin 9
ISO
ClinVar Annotator: match by term: Blepharophimosis
ClinVar
PMID:24674232
NCBI chr 1:46,424,897...46,510,096
Ensembl chr 1:46,423,553...46,509,036
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Tmem242
transmembrane protein 242
ISO
ClinVar Annotator: match by term: Blepharophimosis
ClinVar
PMID:24674232
NCBI chr 1:45,992,713...46,019,684
Ensembl chr 1:45,992,713...46,019,626
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Xirp2
xin actin-binding repeat containing 2
ISO
ClinVar Annotator: match by term: Blepharophimosis
ClinVar
PMID:25741868
NCBI chr 3:52,126,213...52,213,094
Ensembl chr 3:51,870,092...52,213,091
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Zdhhc14
zinc finger DHHC-type palmitoyltransferase 14
ISO
ClinVar Annotator: match by term: Blepharophimosis
ClinVar
PMID:24674232
NCBI chr 1:46,069,127...46,340,806
Ensembl chr 1:46,069,127...46,330,488
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Foxl2
forkhead box L2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1
CTD ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:20429427 PMID:21325395 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Foxl2
forkhead box L2
ISO
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:21325395 PMID:25741868 PMID:28492532 PMID:31077882 PMID:33538981 More...
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Copb2
COPI coat complex subunit beta 2
ISO
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome
ClinVar
NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Foxl2
forkhead box L2
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome OMIM:110100 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:21325395 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33538981 PMID:33796131 PMID:36338666 PMID:39033378 PMID:11175783 More...
RGD:1598958
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome
ClinVar
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndrome
OMIM ClinVar
PMID:22366787 PMID:23929686 PMID:24090879 PMID:25533962 PMID:25741868 PMID:28191890 PMID:28333917 PMID:28492532 PMID:28628100 PMID:32694869 More...
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Drd5
dopamine receptor D5
ISO
DNA:repeat CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11781417 PMID:11781417
RGD:734899
NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774
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Phox2a
paired-like homeobox 2a
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2
OMIM CTD ClinVar
PMID:11600883 PMID:25741868
NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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Arfgef1
ADP ribosylation factor guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Congenital ptosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
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Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Congenital ptosis
ClinVar
PMID:25741868 PMID:32267004
NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
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Cspp1
centrosome and spindle pole associated protein 1
ISO
ClinVar Annotator: match by term: Congenital ptosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
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Zfhx4
zinc finger homeobox 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ptosis, hereditary congenital, 1
OMIM CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:96,224,763...96,408,245
Ensembl chr 2:96,224,767...96,408,228
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Frem2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Cryptophthalmia
ClinVar
PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Ripk4
receptor-interacting serine-threonine kinase 4
ISO
ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome
OMIM ClinVar
PMID:23610050 PMID:25326635 PMID:25741868 PMID:26129644 PMID:28492532 PMID:28940926 More...
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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Fgf5
fibroblast growth factor 5
ISO
ClinVar Annotator: match by term: Trichomegaly
OMIM ClinVar
PMID:24989505
NCBI chr14:11,323,827...11,346,164
Ensembl chr14:11,325,334...11,345,997
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Fras1
Fraser extracellular matrix complex subunit 1
ISS ISO
ClinVar Annotator: match by term: Cryptophthalmos with other malformations CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD
PMID:9536098 PMID:12766769 PMID:16199547 PMID:17163535 PMID:17576681 PMID:18671281 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24700879 PMID:25741868 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31738409 PMID:33726816 PMID:34246755 More...
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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Frem1
Fras1 related extracellular matrix 1
ISS
OMIM:219000
MouseDO
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Frem2
FRAS1 related extracellular matrix 2
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations
CTD ClinVar MouseDO
PMID:17163535 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Grip1
glutamate receptor interacting protein 1
ISS
OMIM:219000
MouseDO
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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Fras1
Fraser extracellular matrix complex subunit 1
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar OMIM RGD
PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 PMID:17576681 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26302956 PMID:26893459 PMID:27280866 PMID:27859469 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31319225 PMID:31738409 PMID:31923588 PMID:31999076 PMID:32436246 PMID:32488952 PMID:33726816 PMID:34246755 PMID:34906515 PMID:34974531 PMID:35005812 PMID:35595450 PMID:12766769 More...
RGD:1598960
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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Frem2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar
PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Grip1
glutamate receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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Frem2
FRAS1 related extracellular matrix 2
IAGP ISO
ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2
ClinVar OMIM RGD
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 PMID:25741868 PMID:26275891 PMID:26489029 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:30838450 PMID:34837691 PMID:36360262 PMID:21756877 PMID:23336369 More...
RGD:13464328 , RGD:126781714
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Frem2fpl
Fras1 related extracellular matrix protein 2;fpl mutant
IAGP
RGD
PMID:21756877 PMID:23336369
RGD:13464328 , RGD:126781714
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Adamts14
ADAM metallopeptidase with thrombospondin type 1 motif, 14
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
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Aipl1
aryl hydrocarbon receptor-interacting protein-like 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:24426771 PMID:28492532
NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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Aspa
aspartoacylase
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:28492532
NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
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Bclaf1
BCL2-associated transcription factor 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
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Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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Gnb5
G protein subunit beta 5
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069
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Grip1
glutamate receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
OMIM ClinVar
PMID:21383172 PMID:22510445 PMID:24033266 PMID:24357607 PMID:25741868 PMID:26539891 PMID:28492532 PMID:36474027 More...
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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Lsm10
LSM10, U7 small nuclear RNA associated
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505
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Med23
mediator complex subunit 23
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
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Mpc1
mitochondrial pyruvate carrier 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400
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Myo18b
myosin XVIIIb
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:28492532
NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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Odad1
outer dynein arm docking complex subunit 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Spata22
spermatogenesis associated 22
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:28492532
NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
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Tlcd3a
TLC domain containing 3A
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr10:61,057,470...61,065,293
Ensembl chr10:61,058,042...61,065,283
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Wdr81
WD repeat domain 81
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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Zxda
zinc finger, X-linked, duplicated A
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr X:59,760,871...59,766,010
Ensembl chr X:59,763,210...59,765,903
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Brpf1
bromodomain and PHD finger containing, 1
ISO
ClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis
OMIM ClinVar
PMID:25741868 PMID:27939639 PMID:27939640 PMID:28492532 PMID:32010779 PMID:32652122 More...
NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis
ClinVar
NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816
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Frem1
Fras1 related extracellular matrix 1
ISO
DNA:deletion, frame shift:cds, splice junction: DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse)
RGD
PMID:23221805 PMID:23536828
RGD:11554181 , RGD:11554185
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Frem2
FRAS1 related extracellular matrix 2
ISO ISS
ClinVar Annotator: match by term: Isolated cryptophthalmia OMIM:123570
OMIM ClinVar MouseDO
PMID:9536098 PMID:17576681 PMID:18203166 PMID:24115501 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30802441 PMID:30838450 More...
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Kif5c
kinesin family member 5C
ISO
ClinVar Annotator: match by term: Jaw-winking syndrome
ClinVar
PMID:25741868
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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Myh10
myosin heavy chain 10
ISO
ClinVar Annotator: match by term: Jaw-winking syndrome
ClinVar
PMID:25741868
NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
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Ube3b
ubiquitin protein ligase E3B
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type OMIM:244450
CTD ClinVar MouseDO OMIM
PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 PMID:23200864 PMID:23687348 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 PMID:28492532 PMID:30792901 PMID:36474027 PMID:38177409 More...
NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome
OMIM CTD ClinVar
PMID:24726473 PMID:25741868 PMID:28492532
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:tears (human)
RGD
PMID:20508732
RGD:8551707
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome
ClinVar
PMID:23636874 PMID:27139419
NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:increased expression:vitreous humor
RGD
PMID:16364297
RGD:8695978
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:vitreous humor (human)
RGD
PMID:19081814
RGD:5685692
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Bdnf
brain-derived neurotrophic factor
ISO
protein:decreased expression:photoreceptor outer segment layer:
RGD
PMID:18405896
RGD:8655629
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Capn5
calpain 5
ISO
ClinVar Annotator: match by term: Proliferative vitreoretinopathy
OMIM ClinVar
PMID:2234842 PMID:23055945 PMID:24381307 PMID:25741868 PMID:25994508 PMID:28492532 PMID:29472286 PMID:29610848 PMID:30986125 More...
NCBI chr 1:152,416,252...152,472,923
Ensembl chr 1:152,416,252...152,472,923
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Cat
catalase
ISO
protein:decreased activity:vitreous humor:
RGD
PMID:10450379
RGD:9068932
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:23974951
RGD:8661680
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Fgf2
fibroblast growth factor 2
ISO
associated with Retinal Detachment
RGD
PMID:9613386
RGD:8655597
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Hgf
hepatocyte growth factor
ISO
protein:increased expression:vitreous humor:
RGD
PMID:10967068
RGD:8548540
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Icam1
intercellular adhesion molecule 1
ISO
associated with Retinal Detachment;protein:increased expression:vitreous humor
RGD
PMID:10413701
RGD:8547581
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Igfbp6
insulin-like growth factor binding protein 6
severity
ISO
protein:increased expression:vitreous,serum:
RGD
PMID:23808406
RGD:10411880
NCBI chr 7:133,276,309...133,280,944
Ensembl chr 7:133,276,234...133,280,966
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Il6
interleukin 6
ISO
protein:increased expression:vitreous:
RGD
PMID:1800167
RGD:7829748
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kng1
kininogen 1
severity
ISO
protein:increased expression:vitreous,serum:
RGD
PMID:23808406
RGD:10411880
NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555
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Kng2
kininogen 2
severity
ISO
protein:increased expression:vitreous,serum:
RGD
PMID:23808406
RGD:10411880
NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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Lrp5
LDL receptor related protein 5
ISO
DNA:mutations: :p.R570Q, p.R752G, p.E1367K (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18263894 PMID:15346351
RGD:1599835
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Lta
lymphotoxin alpha
ISO
DNA:SNP, haplotype:CDS:rs2229094 (human)
RGD
PMID:20663564
RGD:8548782
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Serpinf1
serpin family F member 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:18939350
RGD:36174007
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Med12
mediator complex subunit 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Kat6b
lysine acetyltransferase 6B
ISO
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:27848944 PMID:28191890 PMID:28492532 PMID:28758091 PMID:30353918 PMID:30569622 PMID:32424177 PMID:22077973 More...
RGD:9588484
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome
ClinVar
PMID:32694869
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Ube3b
ubiquitin protein ligase E3B
ISO
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome
ClinVar
PMID:25741868
NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)
OMIM ClinVar RGD
PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26338144 PMID:26350204 PMID:27500536 PMID:27620904 PMID:28369444 PMID:28492532 PMID:28794916 PMID:30006928 PMID:32174975 PMID:32371413 PMID:32682435 PMID:32715471 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 PMID:34573309 PMID:36271811 PMID:23395478 More...
RGD:12910951
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25299038 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31135245 PMID:31780887 PMID:38735647 More...
NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Fbxo7
F-box protein 7
ISO
ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18513678 PMID:19038853 PMID:20603184 PMID:21347293 PMID:23352116 PMID:23933751 PMID:24112787 PMID:25029497 PMID:25085748 PMID:25169713 PMID:25174650 PMID:25741868 PMID:26310625 PMID:26882974 PMID:27294386 PMID:27503909 PMID:28492532 PMID:29174172 PMID:30502028 PMID:31965297 More...
NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
RGD
PMID:16620915
RGD:8552304
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Mip
major intrinsic protein of lens fiber
ISO
ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous
ClinVar
PMID:24120416 PMID:25741868 PMID:26694549 PMID:28492532 PMID:29770612
NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400
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Ndp
norrin cystine knot growth factor NDP
ISO
ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous
ClinVar
PMID:25741868
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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Pax6
paired box 6
ISO
DNA:snp:cds:pN64K (mouse)
RGD
PMID:19345209
RGD:8551891
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Atoh7
atonal bHLH transcription factor 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive
OMIM CTD ClinVar
PMID:9677055 PMID:11527934 PMID:21441919 PMID:21474777 PMID:22068589 PMID:22645276 PMID:25741868 PMID:28492532 More...
NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275
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Tspan12
tetraspanin 12
ISO
ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive
ClinVar
PMID:25250762
NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
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Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Ptosis
ClinVar
PMID:16770791 PMID:17041906 PMID:23536893 PMID:25007885 PMID:25741868 PMID:26046366 PMID:28492532 More...
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Foxc2
forkhead box C2
ISO
lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA
RGD
PMID:11371511
RGD:1601216
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Lrrk2
leucine-rich repeat kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31174552
NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
ClinVar Annotator: match by term: Ptosis
ClinVar
PMID:25741868
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Ptosis
ClinVar
PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 PMID:25741868 PMID:26467025 PMID:27165006 PMID:27890673 PMID:28492532 PMID:31521625 PMID:32420686 PMID:37196654 More...
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Ptosis
ClinVar
PMID:11992261 PMID:14644997 PMID:15723289 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21533187 PMID:22315187 PMID:23584145 PMID:24033266 PMID:24628801 PMID:24935154 PMID:25585602 PMID:25741868 PMID:26467025 PMID:26918529 PMID:28363362 PMID:28492532 PMID:29907801 PMID:30311386 PMID:30410095 PMID:30417923 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32581362 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Ptosis
ClinVar
PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16244001 PMID:16835904 PMID:16917943 PMID:17081152 PMID:18505122 PMID:19648156 PMID:19919814 PMID:21118704 PMID:21514828 PMID:22696611 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25268394 PMID:25558065 PMID:25735680 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 PMID:30236257 PMID:31206373 PMID:31559918 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Ptosis
ClinVar
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Syngap1
synaptic Ras GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Ptosis
ClinVar
PMID:23161826 PMID:23708187 PMID:25741868 PMID:26989088 PMID:28492532 PMID:30440138 PMID:30541864 More...
NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
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Tuba4a
tubulin, alpha 4A
ISO
ClinVar Annotator: match by term: Ptosis
ClinVar
PMID:25741868 PMID:39033378
NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Tubb6
tubulin, beta 6 class V
ISO
ClinVar Annotator: match by term: Ptosis
ClinVar
PMID:25741868
NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29178643 PMID:29364747 PMID:29431110 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:35537890 PMID:36071541 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Col11a1
collagen type XI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type
CTD OMIM ClinVar
PMID:8872475 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 PMID:10573014 PMID:10725403 PMID:11668615 PMID:13520885 PMID:16199547 PMID:17236192 PMID:17576681 PMID:17999364 PMID:19344236 PMID:19449424 PMID:20513134 PMID:21035103 PMID:23026214 PMID:23922384 PMID:23967202 PMID:25073711 PMID:25240749 PMID:25326635 PMID:25741868 PMID:26377240 PMID:26467025 PMID:27081549 PMID:27081569 PMID:27124789 PMID:28492532 PMID:30020262 PMID:30245029 PMID:30919572 PMID:32381727 PMID:32427345 PMID:32578940 PMID:32756486 PMID:33951325 PMID:34515852 PMID:34589056 PMID:34627339 PMID:35741851 PMID:35885918 More...
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Col1a1
collagen type I alpha 1 chain
ISO
mRNA:decreased expression:tarsal conjunctiva (human)
RGD
PMID:20375326
RGD:8552676
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Trichiasis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds HLA-B*07, HLA-B*08 (human, Tanzanian)
RGD
PMID:18824733
RGD:7364877
NCBI chr20:3,314,830...3,318,106
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*11(human)
RGD
PMID:18824733
RGD:7364877
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: Van den Ende-Gupta syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 PMID:28492532 PMID:33783941 PMID:35256560 More...
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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