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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 chr15:77,480,895...77,592,130
Ensembl chr15:77,480,598...77,592,120
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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 chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504
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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 6:7,019,132...7,030,675
Ensembl chr 6:7,019,277...7,030,474
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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 7:19,581,399...20,043,334
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TNFAIP6 |
TNF alpha induced protein 6 |
treatment |
ISO |
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RGD |
PMID:20837529 |
RGD:7777186 |
NCBI chr10:36,792,505...36,814,271
Ensembl chr10:36,792,514...36,814,494
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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 chr11:86,467,315...86,475,217
Ensembl chr11:86,468,181...86,473,097
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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 chr 9:88,773,493...88,823,438
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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 chr 9:88,773,493...88,823,438
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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 chr16:73,805,680...73,810,707
Ensembl chr16:73,805,409...73,810,199
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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 7:60,096,755...60,233,569
Ensembl chr 7:60,202,204...60,236,743
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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 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519
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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 chr 7:60,029,576...60,069,199
Ensembl chr 7:60,052,140...60,071,815
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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 7:59,953,872...59,983,789
Ensembl chr 7:59,953,976...59,984,360
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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 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080
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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 7:60,296,442...60,299,093
Ensembl chr 7:60,297,586...60,298,404
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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 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318
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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 7:67,985,387...68,207,113
Ensembl chr 7:67,987,359...68,206,893
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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 7:60,074,764...60,085,029
Ensembl chr 7:60,076,999...60,077,556
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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 7:60,322,709...60,407,026
Ensembl chr 7:60,322,750...60,403,124
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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 6:40,264,466...40,353,157
Ensembl chr 6:40,205,892...40,353,280
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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 chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225
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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 chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057
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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 chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157
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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 chr20:74,727,084...75,968,434
Ensembl chr20:75,541,508...75,968,427
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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 1:33,419,313...33,679,046
Ensembl chr 1:33,421,038...33,678,990
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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 chr20:109,747,883...109,954,936
Ensembl chr20:109,746,925...109,890,777
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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 chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112
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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 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546
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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:25741868 PMID:26893459 PMID:28492532 |
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NCBI chr12:64,681,181...64,849,266
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LOC103219825 |
protein patched homolog 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 chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
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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 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587
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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 9:3,192,692...3,239,667
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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 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318
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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 chr16:1,321,568...1,352,775
Ensembl chr16:1,321,416...1,352,466
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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 chr11:49,319,104...49,340,725
Ensembl chr11:49,319,839...49,328,656
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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 chr 3:10,058,041...10,178,996
Ensembl chr 3:10,059,196...10,179,037
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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 chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629
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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 5:41,293,191...41,369,443
Ensembl chr 5:41,294,580...41,372,825
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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 chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679
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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 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
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