Disease #04267 (glaucoma)

Official abbreviation -
Name glaucoma
OMIM ID -
Inheritance -
Individuals reported having this disease 63
Phenotype entries for this disease 61
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-05-14 15:50:28 +02:00 (CEST)
Date last edited N/A


Individuals

63 entries on 1 page. Showing entries 1 - 63.
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00052023 - - - - ? - - - - - - glaucoma glaucoma CYP1B1 CYP1B1 1 1 Johan den Dunnen
00052024 - - - - ? - - - - - - glaucoma glaucoma CYP1B1 CYP1B1 1 1 Johan den Dunnen
00052025 - - - - ? - - - - - - glaucoma glaucoma CYP1B1 CYP1B1 1 1 Johan den Dunnen
00052026 - - - - ? - - - - - - glaucoma glaucoma CYP1B1 CYP1B1 1 1 Johan den Dunnen
00054892 - - - - - - Hispanic - - - - glaucoma congenital glaucoma, nephrotic syndrome, developmental delay, short stature, feeding difficulties CYP1B1, NPHS1 CYP1B1, NPHS1 4 1 Elena Semina
00059222 - - - M no - - - - - - glaucoma Congenital glaucoma, microphthalmia, iris anomalies, bilateral club foot, cognitive impairment FOXC1 FOXC1 1 1 Elena Semina
00059958 - - 227 patients with familial glaucoma - yes United States - - - - - glaucoma - MYOC MYOC 1 1 Ivo F.A.C. Fokkema
00088066 - - - F ? Germany - - - - - glaucoma, retinal disease Glaucoma; retinitis pigmentosa; myopie, fuchs-corneal-dystrophy ADAMTS10 ADAMTS10 4 1 Andreas Laner
00320616 - PubMed: Mauri et al., 2016 The patient is described as having primary congenital glaucoma/infantile glaucoma and as not having OI. - - - German - - - - glaucoma - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320915 - PubMed: Mauri et al., 2016 The patient is described as having primary congenital glaucoma and retinal detachment.The technique used was whole exome sequencing. - - - Italian - - - - glaucoma - COL1A1 COL1A1 2 1 Raymond Dalgleish
00363764 G617 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... BEST1 BEST1 1 1 LOVD
00363765 G664 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... BEST1 BEST1 1 1 LOVD
00363766 G38 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... BEST1 BEST1 1 1 LOVD
00363767 G587 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... BEST1 BEST1 1 1 LOVD
00363768 G663 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... BEST1 BEST1 1 1 LOVD
00363769 G381 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... BEST1 BEST1 1 1 LOVD
00363770 G402 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... BEST1 BEST1 1 1 LOVD
00363771 G555 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... BMP4 BMP4 1 1 LOVD
00363772 G370 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... BMP4 BMP4 1 1 LOVD
00363773 G353 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... COL4A1 COL4A1 1 1 LOVD
00363774 G636 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... CRYAA CRYAA 1 1 LOVD
00363775 G644 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... CRYBA4 CRYBA4 1 1 LOVD
00363776 G603 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... CRYBA4 CRYBA4 1 1 LOVD
00363777 G217 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... CRYGC CRYGC 1 1 LOVD
00363778 G598 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... CRYGD CRYGD 1 1 LOVD
00363779 G543 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... EYA1 MUTYH 1 1 LOVD
00363780 G443 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... EYA1 MUTYH 1 1 LOVD
00363781 G447 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... EYA1 MUTYH 1 1 LOVD
00363782 G455 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... EYA1 MUTYH 1 1 LOVD
00363783 G378 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... FOXC1 FOXC1 1 1 LOVD
00363784 G539 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... GDF6 GDF6 1 1 LOVD
00363785 G479 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... GDF6 GDF6 1 1 LOVD
00363786 G629 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... GDF6 GDF6 1 1 LOVD
00363787 G462 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... GJA8 GJA8 1 1 LOVD
00363788 G592 PubMed: Huang 2015 family M - China - - - - - glaucoma see paper; ... HCCS HCCS 1 1 LOVD
00363789 G524 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... HCCS HCCS 1 1 LOVD
00363790 G654 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... PITX2 PITX2 1 1 LOVD
00363791 G408 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... SHH SHH 1 1 LOVD
00363792 G485 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... MYOC MYOC 1 1 LOVD
00363793 G542 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... MYOC, OPTN MYOC, OPTN 2 1 LOVD
00363794 G473 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... MYOC MYOC 1 1 LOVD
00363795 G360 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... MYOC MYOC 1 1 LOVD
00363796 G127 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... MYOC MYOC 1 1 LOVD
00363797 G336 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... MYOC MYOC 1 1 LOVD
00363798 G366 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... MYOC MYOC 1 1 LOVD
00363799 G571 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... MYOC MYOC 1 1 LOVD
00363800 G346 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... MYOC MYOC 1 1 LOVD
00363801 G719 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... MYOC MYOC 1 1 LOVD
00363802 G60 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... MYOC MYOC 1 1 LOVD
00363803 G438 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... WDR36 WDR36 2 1 LOVD
00363804 G387 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... WDR36 WDR36 1 1 LOVD
00363805 G445 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... WDR36 WDR36 1 1 LOVD
00363806 G501 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... WDR36 WDR36 1 1 LOVD
00363807 G411 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... WDR36 WDR36 1 1 LOVD
00363808 G392 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... WDR36 WDR36 1 1 LOVD
00363809 G229 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... WDR36 WDR36 1 1 LOVD
00363810 G166 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... WDR36 WDR36 1 1 LOVD
00363811 G666 PubMed: Huang 2014 - M - China - - - - - glaucoma see paper; ... WDR36 WDR36 1 1 LOVD
00363812 G674 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... WDR36 WDR36 1 1 LOVD
00363813 G626 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... WDR36 WDR36 1 1 LOVD
00363814 G493 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... OPA1 OPA1 1 1 LOVD
00363815 G566 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... OPA1 OPA1 1 1 LOVD
00363816 G577 PubMed: Huang 2014 - F - China - - - - - glaucoma see paper; ... OPA1 OPA1 1 1 LOVD
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