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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 chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196
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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 chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315
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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 chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787
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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 chrNW_004936598:3,391,587...3,713,629
Ensembl chrNW_004936598:3,391,575...3,713,635
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Tnfaip6 |
TNF alpha induced protein 6 |
treatment |
ISO |
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RGD |
PMID:20837529 |
RGD:7777186 |
NCBI chrNW_004936469:26,129,339...26,145,464
Ensembl chrNW_004936469:26,129,331...26,145,422
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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 chrNW_004936507:7,802,091...7,811,123
Ensembl chrNW_004936507:7,801,577...7,811,196
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LOC101975532 |
delta-1-pyrroline-5-carboxylate synthase |
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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 chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073
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LOC101975532 |
delta-1-pyrroline-5-carboxylate synthase |
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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 |
ClinVar OMIM |
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 chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073
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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 chrNW_004936594:5,439,911...5,443,535
Ensembl chrNW_004936594:5,439,175...5,443,564
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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 chrNW_004936563:3,233,913...3,296,671
Ensembl chrNW_004936563:3,235,181...3,296,257
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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 chrNW_004936563:3,520,195...4,170,716
Ensembl chrNW_004936563:3,520,193...4,171,362
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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 chrNW_004936563:3,108,242...3,144,957
Ensembl chrNW_004936563:3,108,197...3,144,980
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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 chrNW_004936563:3,011,476...3,048,477
Ensembl chrNW_004936563:3,011,502...3,047,875
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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 chrNW_004936563:3,455,205...3,474,955
Ensembl chrNW_004936563:3,455,045...3,475,417
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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 chrNW_004936563:3,348,052...3,350,623
Ensembl chrNW_004936563:3,348,052...3,350,623
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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 chrNW_004936563:1,713,294...1,732,431
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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 chrNW_004936662:388,279...524,803
Ensembl chrNW_004936662:390,894...516,485
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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 chrNW_004936563:3,151,515...3,159,071
Ensembl chrNW_004936563:3,152,049...3,158,999
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G |
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 chrNW_004936563:3,372,603...3,455,123
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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 chrNW_004936664:714,036...788,584
Ensembl chrNW_004936664:713,984...789,344
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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 chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
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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 chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814
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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 chrNW_004936522:3,498,395...4,612,560
Ensembl chrNW_004936522:4,333,647...4,616,044
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G |
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 chrNW_004936533:5,985,873...6,216,124
Ensembl chrNW_004936533:5,986,322...6,216,145
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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 chrNW_004936474:8,109,800...8,203,106
Ensembl chrNW_004936474:8,109,031...8,203,106
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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 chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823
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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 chrNW_004936662:3,537,917...3,704,012
Ensembl chrNW_004936662:3,537,925...3,690,877
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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 chrNW_004936539:8,338,624...8,508,031
Ensembl chrNW_004936539:8,351,159...8,508,069
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LOC101970101 |
cytochrome P450 1B1 |
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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 chrNW_004936663:345,021...355,188
Ensembl chrNW_004936663:348,368...355,191
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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 chrNW_004936533:5,952,529...5,980,889
Ensembl chrNW_004936533:5,957,971...5,982,075
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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 chrNW_004936484:11,071,407...11,104,828
Ensembl chrNW_004936484:11,071,372...11,104,828
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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 chrNW_004936563:1,713,294...1,732,431
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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 chrNW_004936538:7,780,022...7,814,575
Ensembl chrNW_004936538:7,780,022...7,814,575
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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 chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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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 chrNW_004936512:10,502,954...10,524,796
Ensembl chrNW_004936512:10,500,622...10,524,824
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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 chrNW_004936472:25,909,994...25,991,800
Ensembl chrNW_004936472:25,942,662...26,006,288
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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 chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689
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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 chrNW_004936475:7,830,544...7,889,437
Ensembl chrNW_004936475:7,830,506...7,889,151
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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 chrNW_004936722:1,447,189...1,457,632
Ensembl chrNW_004936722:1,447,335...1,457,611
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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 chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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