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G |
GLB1 |
galactosidase beta 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:817853 |
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NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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G |
JAG1 |
jagged canonical Notch ligand 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12022040 |
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NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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G |
MCOLN1 |
mucolipin TRP cation channel 1 |
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IAGP |
ClinVar Annotator: match by term: Corneal opacity |
ClinVar |
PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504 |
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NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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G |
SLC4A4 |
solute carrier family 4 member 4 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18614622 |
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NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
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G |
TNFAIP6 |
TNF alpha induced protein 6 |
treatment |
IDA |
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RGD |
PMID:20837529 |
RGD:7777186 |
NCBI chr 2:151,357,592...151,381,340
Ensembl chr 2:151,357,592...151,380,046
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G |
KERA |
keratocan |
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IAGP |
autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S |
RGD |
PMID:10802664 |
RGD:1600335 |
NCBI chr12:91,050,491...91,058,024
Ensembl chr12:91,050,491...91,058,024
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G |
ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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IAGP |
DNA:deletions:cds: ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome 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 DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) |
ClinVar RGD |
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 PMID:24913064 PMID:26320891 More...
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RGD:13434922, RGD:13434923 |
NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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G |
ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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IAGP |
DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human) ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A |
ClinVar OMIM RGD |
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 PMID:25077174 More...
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RGD:13439710 |
NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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G |
PYCR1 |
pyrroline-5-carboxylate reductase 1 |
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IAGP |
ClinVar Annotator: match by term: DE BARSY SYNDROME B ClinVar Annotator: match by term: PYCR1-related condition ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB |
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 chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
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G |
ALPK1 |
alpha kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621
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G |
ANK2 |
ankyrin 2 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
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G |
AP1AR |
adaptor related protein complex 1 associated regulatory protein |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,231,787...112,273,110
Ensembl chr 4:112,231,740...112,273,110
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G |
AP1AR-DT |
AP1AR divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,229,561...112,232,150
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G |
FAM241A |
family with sequence similarity 241 member A |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,145,454...112,195,256
Ensembl chr 4:112,145,454...112,195,256
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G |
HMGN2 |
high mobility group nucleosomal binding domain 2 |
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ISS |
OMIM:180500 |
MouseDO |
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NCBI chr 1:26,472,440...26,476,642
Ensembl chr 1:26,472,440...26,478,209
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G |
LARP7 |
La ribonucleoprotein 7, transcriptional regulator |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696
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G |
LINC02945 |
long intergenic non-protein coding RNA 2945 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:111,803,466...112,112,270
Ensembl chr 4:111,803,231...112,112,273
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G |
LOC105377366 |
uncharacterized LOC105377366 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:111,632,170...111,648,808
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G |
LOC110120703 |
VISTA enhancer hs559 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:111,500,646...111,501,749
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G |
LOC110120805 |
VISTA enhancer hs926 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:111,747,146...111,748,759
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G |
LOC110120806 |
VISTA enhancer hs930 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:110,748,103...110,750,012
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G |
LOC110120819 |
VISTA enhancer hs981 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,521,234...112,522,374
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G |
LOC112935973 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:113003830-113005029 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,082,674...112,083,873
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G |
LOC112935974 |
Sharpr-MPRA regulatory region 9995 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,297,133...112,297,427
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G |
LOC112935975 |
Sharpr-MPRA regulatory region 864 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,759,601...112,760,447
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G |
LOC123477806 |
Sharpr-MPRA regulatory region 3285 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,213,233...112,213,527
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G |
LOC123477807 |
Sharpr-MPRA regulatory region 420 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,361,473...112,361,767
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G |
LOC123477808 |
Sharpr-MPRA regulatory region 87 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,705,533...112,705,827
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G |
LOC129992967 |
ATAC-STARR-seq lymphoblastoid active region 21818 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:110,867,482...110,867,571
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G |
LOC129992968 |
ATAC-STARR-seq lymphoblastoid silent region 15631 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:111,991,499...111,991,568
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G |
LOC129992969 |
ATAC-STARR-seq lymphoblastoid silent region 15632 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,049,315...112,049,394
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G |
LOC129992970 |
ATAC-STARR-seq lymphoblastoid active region 21819 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,077,292...112,077,341
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G |
LOC129992971 |
ATAC-STARR-seq lymphoblastoid silent region 15633 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,145,235...112,145,884
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G |
LOC129992972 |
ATAC-STARR-seq lymphoblastoid active region 21820 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,146,225...112,146,364
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G |
LOC129992973 |
ATAC-STARR-seq lymphoblastoid active region 21821 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,232,532...112,232,581
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G |
LOC129992974 |
ATAC-STARR-seq lymphoblastoid silent region 15636 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,235,115...112,235,164
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G |
LOC129992975 |
ATAC-STARR-seq lymphoblastoid active region 21822 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,271,379...112,271,498
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G |
LOC129992976 |
ATAC-STARR-seq lymphoblastoid active region 21823 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,279,529...112,279,758
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G |
LOC129992977 |
ATAC-STARR-seq lymphoblastoid active region 21824 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,284,677...112,284,856
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G |
LOC129992978 |
ATAC-STARR-seq lymphoblastoid active region 21825 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,284,887...112,285,006
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G |
LOC129992979 |
ATAC-STARR-seq lymphoblastoid silent region 15637 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,285,647...112,285,956
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G |
LOC129992980 |
ATAC-STARR-seq lymphoblastoid active region 21826 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,287,516...112,287,635
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G |
LOC129992981 |
ATAC-STARR-seq lymphoblastoid active region 21827 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,319,237...112,319,286
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G |
LOC129992982 |
ATAC-STARR-seq lymphoblastoid active region 21828 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,514,112...112,514,251
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G |
LOC129992983 |
ATAC-STARR-seq lymphoblastoid silent region 15638 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,514,812...112,515,011
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G |
LOC129992984 |
ATAC-STARR-seq lymphoblastoid silent region 15639 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,515,272...112,515,341
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G |
LOC129992985 |
ATAC-STARR-seq lymphoblastoid silent region 15640 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,516,662...112,516,941
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G |
LOC129992986 |
ATAC-STARR-seq lymphoblastoid silent region 15641 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,523,174...112,523,293
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G |
LOC129992987 |
ATAC-STARR-seq lymphoblastoid silent region 15642 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,523,944...112,524,163
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G |
LOC129992988 |
ATAC-STARR-seq lymphoblastoid active region 21831 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,636,706...112,636,925
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G |
LOC129992989 |
ATAC-STARR-seq lymphoblastoid active region 21832 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,637,496...112,637,545
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G |
LOC129992990 |
ATAC-STARR-seq lymphoblastoid active region 21833 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,637,586...112,637,695
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G |
LOC129992991 |
ATAC-STARR-seq lymphoblastoid silent region 15643 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,813,921...112,813,980
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G |
LOC132089000 |
Neanderthal introgressed variant-containing enhancer experimental_72035 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:110,745,343...110,745,512
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G |
LOC132089001 |
Neanderthal introgressed variant-containing enhancer experimental_72110 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:111,711,412...111,711,581
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G |
MIR297 |
microRNA 297 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:110,860,582...110,860,647
Ensembl chr 4:110,860,582...110,860,647
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G |
MIR302A |
microRNA 302a |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,648,183...112,648,251
Ensembl chr 4:112,648,183...112,648,251
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G |
MIR302B |
microRNA 302b |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,648,485...112,648,557
Ensembl chr 4:112,648,485...112,648,557
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G |
MIR302C |
microRNA 302c |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,648,363...112,648,430
Ensembl chr 4:112,648,363...112,648,430
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G |
MIR302CHG |
miR-302/367 cluster host gene |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,646,720...112,650,051
Ensembl chr 4:112,646,476...112,706,894
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G |
MIR302D |
microRNA 302d |
|
IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,648,004...112,648,071
Ensembl chr 4:112,648,004...112,648,071
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G |
MIR367 |
microRNA 367 |
|
IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,647,874...112,647,941
Ensembl chr 4:112,647,874...112,647,941
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G |
NEUROG2 |
neurogenin 2 |
|
IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,513,516...112,516,180
Ensembl chr 4:112,513,516...112,516,180
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G |
NEUROG2-AS1 |
NEUROG2 and ZGRF1 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:112,515,379...112,546,885
Ensembl chr 4:112,514,291...112,603,529
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G |
PITX2 |
paired like homeodomain 2 |
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IAGP ISS |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM:180500 |
ClinVar MouseDO OMIM |
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 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
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G |
PRDM5 |
PR/SET domain 5 |
|
IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870
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TIFA |
TRAF interacting protein with forkhead associated domain |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,274,537...112,285,904
Ensembl chr 4:112,272,968...112,285,955
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ZGRF1 |
zinc finger GRF-type containing 1 |
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IAGP |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:112,539,339...112,636,909
Ensembl chr 4:112,539,333...112,636,995
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ARHGAP35 |
Rho GTPase activating protein 35 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:25741868 PMID:36450800 |
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NCBI chr19:46,860,997...47,005,077
Ensembl chr19:46,860,997...47,005,077
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:25741868 |
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NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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COL4A1 |
collagen type IV alpha 1 chain |
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IAGP |
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 chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
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IAGP |
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...
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RGD:7800682 |
NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
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DAB1 |
DAB adaptor protein 1 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr 1:56,994,778...58,546,726
Ensembl chr 1:56,994,778...58,546,734
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ELP4 |
elongator acetyltransferase complex subunit 4 |
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IAGP |
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 chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324
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EPHB2 |
EPH receptor B2 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
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FAT1 |
FAT atypical cadherin 1 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
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FAT4 |
FAT atypical cadherin 4 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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FREM1 |
FRAS1 related extracellular matrix 1 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:21931569 PMID:25741868 PMID:26893459 PMID:28492532 |
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NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995
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LOC106014249 |
PAX6 upstream regulatory region |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
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NCBI chr11:31,810,888...31,827,240
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LOC110599580 |
CYP1B1 promoter |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
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NCBI chr 2:38,076,132...38,077,840
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LOC128772254 |
melanoma risk locus-associated MPRA allelic enhancer 2:38298139 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:11558822 PMID:11854439 PMID:12036985 PMID:15342693 PMID:16862072 PMID:20198978 PMID:22128238 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:38,070,924...38,071,068
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PAX6 |
paired box 6 |
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ISO IAGP ISS EXP |
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...
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RGD:8551891 |
NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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PITRM1 |
pitrilysin metallopeptidase 1 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 PMID:28492532 |
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NCBI chr10:3,137,727...3,172,841
Ensembl chr10:3,137,728...3,172,841
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PITRM1-AS1 |
PITRM1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr10:3,141,601...3,148,629
Ensembl chr10:3,141,632...3,167,972
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PITX2 |
paired like homeodomain 2 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 |
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NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
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PRPF8 |
pre-mRNA processing factor 8 |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867
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PTCH1 |
patched 1 |
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IAGP |
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 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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RARG |
retinoic acid receptor gamma |
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IAGP |
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis |
ClinVar |
PMID:26893459 |
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NCBI chr12:53,210,569...53,232,209
Ensembl chr12:53,210,567...53,232,980
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B3GLCT |
beta 3-glucosyltransferase |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Peters plus syndrome OMIM:261540 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
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 chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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FGF8 |
fibroblast growth factor 8 |
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IAGP |
ClinVar Annotator: match by term: Peters plus syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29584859 |
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NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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LOC130009514 |
ATAC-STARR-seq lymphoblastoid silent region 5240 |
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IAGP |
ClinVar Annotator: match by term: Peters plus syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr13:31,199,726...31,200,625
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LPCAT2 |
lysophosphatidylcholine acyltransferase 2 |
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IAGP |
ClinVar Annotator: match by term: Winchester-Grossman syndrome |
ClinVar |
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NCBI chr16:55,509,072...55,586,666
Ensembl chr16:55,509,072...55,586,666
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MMP14 |
matrix metallopeptidase 14 |
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IAGP EXP |
ClinVar Annotator: match by term: Winchester syndrome ClinVar Annotator: match by term: MMP14-related condition CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:28492532 PMID:29741626 More...
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NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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MMP2 |
matrix metallopeptidase 2 |
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IAGP |
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 chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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