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G |
GLB1 |
galactosidase beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:817853 |
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NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
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JAG1 |
jagged canonical Notch ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12022040 |
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NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641
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MCOLN1 |
mucolipin TRP cation channel 1 |
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ISO |
ClinVar Annotator: match by term: Corneal opacity |
ClinVar |
PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 |
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NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,602,770...71,613,312
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SLC4A4 |
solute carrier family 4 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18614622 |
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NCBI chr 8:67,768,955...68,177,213
Ensembl chr 8:67,706,874...68,177,212
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TNFAIP6 |
TNF alpha induced protein 6 |
treatment |
ISO |
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RGD |
PMID:20837529 |
RGD:7777186 |
NCBI chr15:862,013...881,352
Ensembl chr15:862,015...881,461
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KERA |
keratocan |
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ISO |
autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S |
RGD |
PMID:10802664 |
RGD:1600335 |
NCBI chr 5:91,794,317...91,802,362
Ensembl chr 5:91,796,324...91,802,468
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ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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ISO |
ClinVar Annotator: match by term: Corneal clouding cutis laxa mental retardation | ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome |
ClinVar |
PMID:8779323 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21739576 PMID:22411858 PMID:23963297 PMID:24913064 PMID:25077174 PMID:25326637 PMID:25741868 PMID:26026163 PMID:26297557 PMID:26297558 PMID:26320891 PMID:26829900 PMID:28492532 PMID:28567303 PMID:28604674 PMID:29754261 PMID:29915212 PMID:30244529 PMID:31130284 PMID:31402623 PMID:31742715 PMID:32017139 PMID:32371413 PMID:32798076 PMID:36067040 PMID:37119015 More...
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NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215
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ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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ISO |
ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A |
OMIM ClinVar |
PMID:8779323 PMID:9536098 PMID:9643297 PMID:11092761 PMID:16199547 PMID:17576681 PMID:18478038 PMID:21739576 PMID:22411858 PMID:23963297 PMID:24767728 PMID:24913064 PMID:25077174 PMID:25326637 PMID:25741868 PMID:26026163 PMID:26297557 PMID:26297558 PMID:26320891 PMID:26829900 PMID:28492532 PMID:28567303 PMID:28604674 PMID:29754261 PMID:29915212 PMID:30244529 PMID:31130284 PMID:31402623 PMID:31742715 PMID:32017139 PMID:32371413 PMID:32798076 PMID:36067040 PMID:37119015 More...
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NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215
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PYCR1 |
pyrroline-5-carboxylate reductase 1 |
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ISO |
ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition |
OMIM ClinVar |
PMID:4076251 PMID:9536098 PMID:16199547 PMID:16233902 PMID:17576681 PMID:18348262 PMID:19648921 PMID:21567914 PMID:22052856 PMID:23406396 PMID:23963297 PMID:24035636 PMID:25741868 PMID:25865492 PMID:28454995 PMID:28492532 PMID:30138938 PMID:30450527 PMID:32860008 More...
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NCBI chr12:1,060,028...1,064,808
Ensembl chr12:1,060,570...1,064,805
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ALPK1 |
alpha kinase 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,241,220...110,368,001
Ensembl chr 8:110,241,227...110,367,912
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ANK2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908
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FAM241A |
family with sequence similarity 241 member A |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,468,450...110,504,828
Ensembl chr 8:110,468,757...110,504,912
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HMGN2 |
high mobility group nucleosomal binding domain 2 |
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ISO |
OMIM:180500 |
MouseDO |
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NCBI chr 6:83,857,114...83,861,907
Ensembl chr 6:83,858,177...83,861,905
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LARP7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708
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NEUROG2 |
neurogenin 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,200,681...110,206,081
Ensembl chr 8:110,201,161...110,201,979
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PITX2 |
paired like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
OMIM ClinVar |
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31185933 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
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NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
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PRDM5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094
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TIFA |
TRAF interacting protein with forkhead associated domain |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,377,817...110,394,190
Ensembl chr 8:110,377,892...110,389,604
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ZGRF1 |
zinc finger GRF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:110,089,920...110,168,086
Ensembl chr 8:110,090,001...110,168,081
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ARHGAP35 |
Rho GTPase activating protein 35 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:25741868 PMID:36450800 |
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NCBI chr 6:52,711,463...52,841,295
Ensembl chr 6:52,711,901...52,841,288
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BMP4 |
bone morphogenetic protein 4 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
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COL4A1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 More...
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NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322
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CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12525557 PMID:14507861 PMID:15037581 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18470941 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21572728 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550445 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30788381 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32832252 PMID:32883240 PMID:34956319 PMID:36239105 PMID:38219857 More...
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NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683
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DAB1 |
DAB adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr 6:154,156,595...155,374,403
Ensembl chr 6:154,936,460...155,374,399
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ELP4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 |
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NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,987...29,230,077
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EPHB2 |
EPH receptor B2 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567
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FAT1 |
FAT atypical cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715
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FAT4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519
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FREM1 |
FRAS1 related extracellular matrix 1 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:21931569 PMID:26893459 PMID:28492532 |
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NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,641,011...207,801,952
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PAX6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12868034 PMID:15086958 PMID:15579687 PMID:16199547 PMID:17417613 PMID:18483559 PMID:18776953 PMID:20577777 PMID:22361317 PMID:22692063 PMID:24281366 PMID:25741868 PMID:26604670 PMID:26661695 PMID:27878435 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29145603 PMID:29914532 PMID:31700164 PMID:32360764 PMID:32499604 PMID:34101622 PMID:34415986 More...
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NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200
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PITRM1 |
pitrilysin metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr10:66,996,919...67,021,692
Ensembl chr10:66,996,954...67,047,235
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G |
PITX2 |
paired like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 |
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NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
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PRPF8 |
pre-mRNA processing factor 8 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr12:47,861,041...47,895,286
Ensembl chr12:47,861,043...47,895,190
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PTCH1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:1347096 PMID:26467025 PMID:26893459 PMID:28492532 PMID:30762128 PMID:35170016 More...
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NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
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RARG |
retinoic acid receptor gamma |
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ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr 5:18,436,267...18,458,625
Ensembl chr 5:18,436,270...18,458,624
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B3GLCT |
beta 3-glucosyltransferase |
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ISO |
ClinVar Annotator: match by term: Peters plus syndrome |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 PMID:18798333 PMID:19796186 PMID:20301637 PMID:23161355 PMID:23213277 PMID:23889335 PMID:25741868 PMID:26684045 PMID:28492532 PMID:32204707 More...
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NCBI chr11:7,792,160...7,907,052
Ensembl chr11:7,792,368...7,907,049
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FGF8 |
fibroblast growth factor 8 |
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ISO |
ClinVar Annotator: match by term: Peters plus syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29584859 |
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NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
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G |
LPCAT2 |
lysophosphatidylcholine acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Winchester-Grossman syndrome |
ClinVar |
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NCBI chr 6:29,999,504...30,056,858
Ensembl chr 6:29,998,488...30,056,862
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G |
MMP14 |
matrix metallopeptidase 14 |
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ISO |
ClinVar Annotator: match by term: MMP14-related condition | ClinVar Annotator: match by term: Winchester syndrome |
OMIM ClinVar |
PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:28492532 PMID:29741626 More...
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NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928
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G |
MMP2 |
matrix metallopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Winchester-Grossman syndrome |
ClinVar |
PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 PMID:20617897 PMID:20673868 PMID:21421877 PMID:23313298 PMID:23378725 PMID:25600631 PMID:25704319 PMID:25741868 PMID:27182040 PMID:28492532 More...
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NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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