|
G |
Rad54l |
RAD54 like |
|
ISS |
OMIM:181700 |
MouseDO |
|
|
NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070
|
|
G |
Six6 |
SIX homeobox 6 |
|
ISO |
ClinVar Annotator: match by term: Sclerocornea |
ClinVar |
|
|
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
|
|
G |
Six6os1 |
Six6 opposite strand transcript 1 |
|
ISO |
ClinVar Annotator: match by term: Sclerocornea |
ClinVar |
|
|
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
|
|
|
G |
Adamts17 |
ADAM metallopeptidase with thrombospondin type 1 motif, 17 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:19836009 PMID:24940034 PMID:28492532 PMID:32499604 |
|
NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
|
|
G |
Col4a1 |
collagen type IV alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25590979 PMID:25741868 PMID:28492532 PMID:30181649 PMID:32499604 More...
|
|
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
|
|
G |
Cpamd8 |
C3 and PZP-like, alpha-2-macroglobulin domain containing 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anterior segment dysgenesis |
CTD ClinVar |
PMID:27839872 PMID:32499604 |
|
NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
|
|
G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis |
CTD ClinVar |
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 PMID:12036985 PMID:15342693 PMID:15475877 PMID:17591938 PMID:18470941 PMID:18622259 PMID:18852424 PMID:19179758 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:24940937 PMID:25741868 PMID:26550445 PMID:27243976 PMID:27272408 PMID:27508083 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28448622 PMID:28492532 PMID:30520782 PMID:32499604 PMID:32832252 More...
|
|
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
|
|
G |
Eya1 |
EYA transcriptional coactivator and phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment anomalies | ClinVar Annotator: match by term: Anterior segment anomalies and cataract |
ClinVar |
PMID:10655545 |
|
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
|
|
G |
Foxc1 |
forkhead box C1 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar RGD |
PMID:28492532 PMID:28513611 PMID:32499604 PMID:10767326 |
RGD:8662365 |
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
|
|
G |
Foxe3 |
forkhead box E3 |
|
ISO |
DNA:insertion:cds:c.943_944insG (human) ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis |
ClinVar RGD |
PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:20361012 PMID:24033266 PMID:24033328 PMID:24689660 PMID:25504734 PMID:25741868 PMID:26854927 PMID:28492532 PMID:29136273 PMID:29314435 PMID:29878917 PMID:32499604 PMID:33726816 PMID:34046667 PMID:11159941 More...
|
RGD:1598957 |
NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454
|
|
G |
Gja8 |
gap junction protein, alpha 8 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:25741868 PMID:28455998 PMID:32499604 PMID:35980487 |
|
NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
|
|
G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:25741868 PMID:27108798 PMID:32499604 |
|
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
|
|
G |
Pax6 |
paired box 6 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:24281366 PMID:32499604 |
|
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
|
|
G |
Pitx2 |
paired-like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:7581385 PMID:9437321 PMID:15591271 PMID:22569110 PMID:25741868 PMID:29664915 PMID:32499604 PMID:35882526 More...
|
|
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
|
|
G |
Pitx3 |
paired-like homeodomain 3 |
|
ISO ISS |
DNA:insertion:exon:c.657ins17bp CTD Direct Evidence: marker/mechanism |
MouseDO CTD RGD |
PMID:9620774 PMID:18989383 PMID:18989383 |
RGD:11535067 |
NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
|
|
G |
Pxdn |
peroxidasin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES |
CTD ClinVar |
PMID:25741868 PMID:26694549 PMID:28492532 PMID:32499604 |
|
NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
|
|
G |
Rbp4 |
retinol binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES |
ClinVar |
PMID:18414213 PMID:20681998 PMID:22473935 PMID:23394784 PMID:24033266 PMID:24950660 PMID:25214167 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:28259615 PMID:28492532 PMID:29701772 PMID:30611313 PMID:31517061 PMID:32236737 PMID:34008892 PMID:35428369 PMID:36628841 More...
|
|
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
|
|
G |
Tsc1 |
TSC complex subunit 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
|
|
|
G |
Foxe3 |
forkhead box E3 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454
|
|
G |
Gbf1 |
golgi brefeldin A resistant guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 |
ClinVar |
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 PMID:18989383 PMID:24555714 PMID:25741868 PMID:28492532 PMID:29405783 More...
|
|
NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042
|
|
G |
Pitx2 |
paired-like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 1 |
ClinVar |
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 |
|
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
|
|
G |
Pitx3 |
paired-like homeodomain 3 |
|
ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 |
OMIM ClinVar |
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 PMID:18989383 PMID:24555714 PMID:25741868 PMID:28492532 PMID:29405783 More...
|
|
NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
|
|
|
G |
Foxe3 |
forkhead box E3 |
|
ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 |
ClinVar OMIM |
PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:24033266 PMID:24033328 PMID:24689660 PMID:25504734 PMID:25741868 PMID:26854927 PMID:28492532 PMID:29136273 PMID:29314435 PMID:29878917 PMID:33726816 PMID:34046667 More...
|
|
NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454
|
|
|
G |
Foxc1 |
forkhead box C1 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:16638984 PMID:19513095 PMID:19668217 PMID:19793056 PMID:20881294 PMID:24556684 PMID:25741868 PMID:28492532 PMID:30143558 PMID:31836490 PMID:32475988 PMID:32832252 PMID:34741396 PMID:34745210 PMID:35882526 More...
|
|
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
|
|
|
G |
Pitx2 |
paired-like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28492532 PMID:32499604 More...
|
|
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
|
|
|
G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 |
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...
|
|
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
|
|
G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 |
ClinVar |
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
|
|
G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 |
ClinVar |
PMID:21931569 PMID:26893459 PMID:28492532 |
|
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
|
|
G |
Pax6 |
paired box 6 |
|
ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE |
OMIM ClinVar |
PMID:1251879 PMID:1684738 PMID:1954207 PMID:6988567 PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:10441571 PMID:12015275 PMID:12634864 PMID:12721955 PMID:12868034 PMID:14561779 PMID:15086958 PMID:15579687 PMID:16199547 PMID:17417613 PMID:18483559 PMID:18776953 PMID:20577777 PMID:22361317 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28488383 PMID:28492532 PMID:31700164 More...
|
|
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
|
|
G |
Pitx2 |
paired-like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 |
ClinVar |
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 |
|
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 |
ClinVar |
PMID:1347096 PMID:26893459 PMID:28492532 |
|
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
|
|
|
G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 6 | ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes | ClinVar Annotator: match by term: CYP1B1-related disorder |
OMIM ClinVar |
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11184479 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:12598442 PMID:14507861 PMID:14635112 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17164573 PMID:17224759 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18055790 PMID:18070520 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20057908 PMID:20151268 PMID:20664688 PMID:20827438 PMID:21081970 PMID:21168818 PMID:21306220 PMID:21572728 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22878448 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:24940937 PMID:25018621 PMID:25091052 PMID:25109919 PMID:25261878 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25826643 PMID:25950505 PMID:25952714 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30653986 PMID:30662834 PMID:30788381 PMID:30820150 PMID:31024815 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32860008 PMID:35085548 PMID:35170016 PMID:36076309 PMID:36239105 PMID:38219857 More...
|
|
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
|
|
|
G |
Pxdn |
peroxidasin |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 7 | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21474777 PMID:21907015 PMID:24939590 PMID:25741868 PMID:26694549 PMID:28492532 PMID:32499604 More...
|
|
NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES |
ClinVar |
PMID:18414213 PMID:20681998 PMID:22473935 PMID:23394784 PMID:24033266 PMID:24950660 PMID:25214167 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:28259615 PMID:28492532 PMID:29701772 PMID:30611313 PMID:31517061 PMID:32236737 PMID:34008892 PMID:35428369 PMID:36628841 More...
|
|
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
|
|
G |
Tpo |
thyroid peroxidase |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 7 |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
|
|
|
G |
Bcor |
BCL6 co-repressor |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 8 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
|
|
G |
Cpamd8 |
C3 and PZP-like, alpha-2-macroglobulin domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Anterior segment dysgenesis 8 |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:27839872 PMID:28492532 PMID:29556725 PMID:32499604 More...
|
|
NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
|
|
|
G |
Cmpk1 |
cytidine/uridine monophosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital primary aphakia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:128,480,301...128,507,830
Ensembl chr 5:128,480,301...128,507,830
|
|
G |
Foxe3 |
forkhead box E3 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:610256 ClinVar Annotator: match by term: Congenital primary aphakia |
CTD MouseDO ClinVar |
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 PMID:19708017 PMID:20140963 PMID:20361012 PMID:20806047 PMID:21150893 PMID:24033266 PMID:24033328 PMID:24689660 PMID:25148791 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:27218149 PMID:28492532 PMID:29136273 PMID:29314435 PMID:29878917 PMID:32224865 PMID:32499604 PMID:32976546 PMID:33726816 PMID:34046667 More...
|
|
NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454
|
|
G |
Stil |
STIL, centriolar assembly protein |
|
ISO |
ClinVar Annotator: match by term: Congenital primary aphakia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730
|
|
|
G |
Vsx1 |
visual system homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome |
OMIM ClinVar |
PMID:11978762 PMID:15051220 PMID:16303937 PMID:21976959 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
|
|
|
G |
Arhgap35 |
Rho GTPase activating protein 35 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:25741868 PMID:36450800 |
|
NCBI chr 1:77,202,436...77,319,298
Ensembl chr 1:77,202,436...77,319,298
|
|
G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:25741868 |
|
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
|
|
G |
Col4a1 |
collagen type IV alpha 1 chain |
|
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...
|
|
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
|
|
G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
ISO |
DNA:snp:cds:p.G61E (human) ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar RGD |
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 PMID:15621878 More...
|
RGD:7800682 |
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
|
|
G |
Dab1 |
DAB adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
|
NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552
|
|
G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
|
|
G |
Ephb2 |
Eph receptor B2 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
|
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
|
|
G |
Fat1 |
FAT atypical cadherin 1 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
|
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
|
|
G |
Fat4 |
FAT atypical cadherin 4 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
|
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
|
|
G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:21931569 PMID:26893459 PMID:28492532 |
|
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
|
|
G |
Pax6 |
paired box 6 |
|
ISO ISS |
DNA:snp:cds:pN64K (mouse) ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis OMIM:604229 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
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 PMID:19345209 More...
|
RGD:8551891 |
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
|
|
G |
Pitrm1 |
pitrilysin metallopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
|
NCBI chr17:63,795,670...63,827,317
Ensembl chr17:63,795,671...63,839,907
|
|
G |
Pitx2 |
paired-like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 |
|
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
|
|
G |
Prpf8 |
pre-mRNA processing factor 8 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
|
NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:1347096 PMID:26467025 PMID:26893459 PMID:28492532 PMID:30762128 PMID:35170016 More...
|
|
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
|
|
G |
Rarg |
retinoic acid receptor, gamma |
|
ISO |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
|
NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177
|
|
|
G |
B3glct |
beta 3-glucosyltransferase |
|
ISO ISS |
OMIM:261540 ClinVar Annotator: match by term: Peters plus syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
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...
|
|
NCBI chr12:5,255,521...5,346,807
Ensembl chr12:5,255,740...5,346,810
|
|
G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
ClinVar Annotator: match by term: Peters plus syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29584859 |
|
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
|
|