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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 chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191
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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 chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
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G |
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 chr20:52,318,411...52,327,389
Ensembl chr20:52,318,408...52,348,963
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G |
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 chr13:60,375,215...60,670,664
Ensembl chr13:60,328,136...60,666,728
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G |
TNFAIP6 |
TNF alpha induced protein 6 |
treatment |
ISO |
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RGD |
PMID:20837529 |
RGD:7777186 |
NCBI chr19:52,607,598...52,623,799
Ensembl chr19:52,607,713...52,623,811
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G |
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 chr15:31,750,768...31,758,588
Ensembl chr15:31,670,924...31,758,871
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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 chr28:9,101,578...9,148,063
Ensembl chr28:9,102,282...9,147,992
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G |
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 chr28:9,101,578...9,148,063
Ensembl chr28:9,102,282...9,147,992
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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 chr 9:360,353...364,795
Ensembl chr 9:360,376...364,570
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G |
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 chr32:32,135,110...32,270,732
Ensembl chr32:32,136,738...32,267,264
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G |
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 chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036
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AP1AR |
adaptor related protein complex 1 associated regulatory protein |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr32:32,083,077...32,123,857
Ensembl chr32:32,083,105...32,122,200
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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 chr32:31,990,486...32,034,616
Ensembl chr32:31,990,621...32,029,631
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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 2:73,579,042...73,582,786
Ensembl chr 2:73,579,042...73,610,696
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G |
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 chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131
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MIR302A |
microRNA mir-302a |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr32:32,429,209...32,429,277
Ensembl chr32:32,429,209...32,429,277
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G |
MIR302B |
microRNA mir-302b |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr32:32,429,500...32,429,574
Ensembl chr32:32,429,500...32,429,574
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G |
MIR302C |
microRNA mir-302c |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr32:32,429,366...32,429,433
Ensembl chr32:32,429,366...32,429,433
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G |
MIR302D |
microRNA mir-302d |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr32:32,429,032...32,429,101
Ensembl chr32:32,429,032...32,429,101
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MIR367 |
microRNA mir-367 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr32:32,428,905...32,428,972
Ensembl chr32:32,428,905...32,428,972
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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 chr32:32,310,939...32,313,492
Ensembl chr32:32,312,097...32,312,915
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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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
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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 chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590
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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 chr32:32,125,870...32,135,159
Ensembl chr32:32,126,634...32,127,191
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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 chr32:32,344,348...32,421,485
Ensembl chr32:32,344,791...32,418,441
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G |
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 1:108,952,836...109,034,329
Ensembl chr 1:108,952,562...109,034,337
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G |
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 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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G |
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 chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666
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G |
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 chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
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G |
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 5:51,397,837...52,505,513
Ensembl chr 5:52,231,141...52,502,336
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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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005
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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 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786
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G |
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 chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192
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G |
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 chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045
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G |
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 chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335
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G |
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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G |
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 chr 2:32,182,934...32,220,119
Ensembl chr 2:32,182,853...32,220,072
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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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
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G |
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 chr 9:45,797,882...45,827,365
Ensembl chr 9:45,797,959...45,828,071
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G |
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 chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
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G |
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 chr27:1,958,432...1,978,471
Ensembl chr27:1,958,204...1,978,476
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G |
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 chr25:8,815,681...8,938,899
Ensembl chr25:8,817,628...8,939,249
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G |
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 chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
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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 2:60,401,317...60,469,177
Ensembl chr 2:60,388,557...60,469,199
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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 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
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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 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
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