Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the eye (HP:0000478)help
Parent Node:
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Abnormal eye physiology (HP:0012373)help
..Starting node
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Glaucoma (HP:0000501)help
Term ID: 501
Name: Glaucoma
Synonym:
Definition: Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Comments:
Reference: HP:0000501
Genes and Diseases:
 
       Child Nodes:
........expandCongenital glaucoma (HP:0001087) help
................... HP:0000557 Buphthalmos
................... HP:0008007 Primary congenital glaucoma
................... HP:0008041 Late onset congenital glaucoma
........expandIncreased intraocular pressure (HP:0007906) help
........expandOpen angle glaucoma (HP:0012108) help
........expandAngle closure glaucoma (HP:0012109) help

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000501HP:0000501Glaucoma0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1128034601691
HP:0000501HP:0000501Glaucoma0ADAMTS10 CL E G H817943449Mehes syndromeORPHA11513201608990
HP:0000501HP:0000501Glaucoma0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM1817109607511
HP:0000501HP:0000501Glaucoma0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA14219605011
HP:0000501HP:0000501Glaucoma0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1926147615900
HP:0000501HP:0000501Glaucoma0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12721869610345
HP:0000501HP:0000501Glaucoma0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19621575608894
HP:0000501HP:0000501Glaucoma0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14348600253
HP:0000501HP:0000501Glaucoma0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM1229101616062
HP:0000501HP:0000501Glaucoma0ANTXR1 CL E G H841682067ORPHA11421014606410
HP:0000501HP:0000501Glaucoma0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM11421014606410
HP:0000501HP:0000501Glaucoma0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1717090616432
HP:0000501HP:0000501Glaucoma0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1517146615407
HP:0000501HP:0000501Glaucoma0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13694604695
HP:0000501HP:0000501Glaucoma0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12113210608845
HP:0000501HP:0000501Glaucoma0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207714611542
HP:0000501HP:0000501Glaucoma0ATR CL E G H545808Baker Vinters syndromeORPHA134882601215
HP:0000501HP:0000501Glaucoma0ATRIP CL E G H84126808Baker Vinters syndromeORPHA1233499606605
HP:0000501HP:0000501Glaucoma0B3GALNT2 CL E G H148789588ORPHA11628596610194
HP:0000501HP:0000501Glaucoma0B3GALNT2 CL E G H148789899ORPHA11628596610194
HP:0000501HP:0000501Glaucoma0B3GLCT CL E G H145173709ORPHA11520207610308
HP:0000501HP:0000501Glaucoma0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11520207610308
HP:0000501HP:0000501Glaucoma0B4GAT1 CL E G H11041899ORPHA1715685605517
HP:0000501HP:0000501Glaucoma0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105966209901
HP:0000501HP:0000501Glaucoma0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196967606151
HP:0000501HP:0000501Glaucoma0BCOR CL E G H54880568Aggressive fibromatosisORPHA15520893300485
HP:0000501HP:0000501Glaucoma0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15520893300485
HP:0000501HP:0000501Glaucoma0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131912703607854
HP:0000501HP:0000501Glaucoma0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131912703607854
HP:0000501HP:0000501Glaucoma0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1201148602452
HP:0000501HP:0000501Glaucoma0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1291149602860
HP:0000501HP:0000501Glaucoma0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA161151603719
HP:0000501HP:0000501Glaucoma0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11727232614477
HP:0000501HP:0000501Glaucoma0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1101375114760
HP:0000501HP:0000501Glaucoma0CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA12819721613165
HP:0000501HP:0000501Glaucoma0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM12141550613381
HP:0000501HP:0000501Glaucoma0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11329426612753
HP:0000501HP:0000501Glaucoma0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11329426612753
HP:0000501HP:0000501Glaucoma0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14914550609502
HP:0000501HP:0000501Glaucoma0CENPE CL E G H1062808Baker Vinters syndromeORPHA141856117143
HP:0000501HP:0000501Glaucoma0CENPJ CL E G H55835808Baker Vinters syndromeORPHA11017272609279
HP:0000501HP:0000501Glaucoma0CEP152 CL E G H22995808Baker Vinters syndromeORPHA12029298613529
HP:0000501HP:0000501Glaucoma0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1530794607951
HP:0000501HP:0000501Glaucoma0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13921699608381
HP:0000501HP:0000501Glaucoma0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12129861300350
HP:0000501HP:0000501Glaucoma0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM12224464608429
HP:0000501HP:0000501Glaucoma0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM1732074607042
HP:0000501HP:0000501Glaucoma0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13912605606397
HP:0000501HP:0000501Glaucoma0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1332148123825
HP:0000501HP:0000501Glaucoma0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1622151600724
HP:0000501HP:0000501Glaucoma0COL11A1 CL E G H1301560ORPHA11062186120280
HP:0000501HP:0000501Glaucoma0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11062186120280
HP:0000501HP:0000501Glaucoma0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11062186120280
HP:0000501HP:0000501Glaucoma0COL1A1 CL E G H1277287ORPHA19672197120150
HP:0000501HP:0000501Glaucoma0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15702200120140
HP:0000501HP:0000501Glaucoma0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA16452201120180
HP:0000501HP:0000501Glaucoma0COL4A1 CL E G H1282899ORPHA11142202120130
HP:0000501HP:0000501Glaucoma0COL5A1 CL E G H1289287ORPHA11592209120215
HP:0000501HP:0000501Glaucoma0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA11592209120215
HP:0000501HP:0000501Glaucoma0COL5A2 CL E G H1290287ORPHA1392210120190
HP:0000501HP:0000501Glaucoma0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13472343604210
HP:0000501HP:0000501Glaucoma0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13642348600140
HP:0000501HP:0000501Glaucoma0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072383602225
HP:0000501HP:0000501Glaucoma0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM1272388123580
HP:0000501HP:0000501Glaucoma0CYP1B1 CL E G H154598976ORPHA12432597601771
HP:0000501HP:0000501Glaucoma0DAG1 CL E G H1605899ORPHA1112666128239
HP:0000501HP:0000501Glaucoma0DDX58 CL E G H23586616298Singleton-Merten syndrome 2616298C4225380OMIM1819102609631
HP:0000501HP:0000501Glaucoma0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1820603608172
HP:0000501HP:0000501Glaucoma0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217211605584
HP:0000501HP:0000501Glaucoma0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1913133300205
HP:0000501HP:0000501Glaucoma0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073373602700
HP:0000501HP:0000501Glaucoma0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133821555612424
HP:0000501HP:0000501Glaucoma0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12025808613596
HP:0000501HP:0000501Glaucoma0FAS CL E G H3553437ORPHA114211920134637
HP:0000501HP:0000501Glaucoma0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13723109612411
HP:0000501HP:0000501Glaucoma0FBN1 CL E G H22002084ORPHA127213603134797
HP:0000501HP:0000501Glaucoma0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM127213603134797
HP:0000501HP:0000501Glaucoma0FBN1 CL E G H22003449Mehes syndromeORPHA127213603134797
HP:0000501HP:0000501Glaucoma0FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM127213603134797
HP:0000501HP:0000501Glaucoma0FKRP CL E G H79147588ORPHA114117997606596
HP:0000501HP:0000501Glaucoma0FKRP CL E G H79147899ORPHA114117997606596
HP:0000501HP:0000501Glaucoma0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114117997606596
HP:0000501HP:0000501Glaucoma0FKTN CL E G H2218899ORPHA1593622607440
HP:0000501HP:0000501Glaucoma0FKTN CL E G H2218588ORPHA1593622607440
HP:0000501HP:0000501Glaucoma0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1593622607440
HP:0000501HP:0000501Glaucoma0FOXC1 CL E G H2296250923ORPHA11393800601090
HP:0000501HP:0000501Glaucoma0FOXC1 CL E G H2296601631Anterior segment dysgenesis 3601631C1866560OMIM11393800601090
HP:0000501HP:0000501Glaucoma0FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA11393800601090
HP:0000501HP:0000501Glaucoma0FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM11393800601090
HP:0000501HP:0000501Glaucoma0FOXE3 CL E G H230188632ORPHA1313808601094
HP:0000501HP:0000501Glaucoma0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1153960607643
HP:0000501HP:0000501Glaucoma0GJA1 CL E G H26972710Hm syndromeORPHA11094274121014
HP:0000501HP:0000501Glaucoma0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11094274121014
HP:0000501HP:0000501Glaucoma0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11094274121014
HP:0000501HP:0000501Glaucoma0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA1404285603324
HP:0000501HP:0000501Glaucoma0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1214286605425
HP:0000501HP:0000501Glaucoma0GMPPB CL E G H29925588ORPHA14922932615320
HP:0000501HP:0000501Glaucoma0GNAQ CL E G H27763205LBWD syndromeORPHA164390600998
HP:0000501HP:0000501Glaucoma0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA174679602275
HP:0000501HP:0000501Glaucoma0GZF1 CL E G H64412617662JOINT LAXITY, SHORT STATURE, AND MYOPIA617662C4540020OMIM1215808613842
HP:0000501HP:0000501Glaucoma0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17226527610453
HP:0000501HP:0000501Glaucoma0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145385604526
HP:0000501HP:0000501Glaucoma0IDUA CL E G H342593473ORPHA12915391252800
HP:0000501HP:0000501Glaucoma0IDUA CL E G H342593474ORPHA12915391252800
HP:0000501HP:0000501Glaucoma0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12818873606951
HP:0000501HP:0000501Glaucoma0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17229077614620
HP:0000501HP:0000501Glaucoma0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12730391607386
HP:0000501HP:0000501Glaucoma0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1620606600595
HP:0000501HP:0000501Glaucoma0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1246052146690
HP:0000501HP:0000501Glaucoma0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14218362607056
HP:0000501HP:0000501Glaucoma0ISPD CL E G H729920899ORPHA137276614631
HP:0000501HP:0000501Glaucoma0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM137276614631
HP:0000501HP:0000501Glaucoma0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA1104021136440
HP:0000501HP:0000501Glaucoma0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1922219613344
HP:0000501HP:0000501Glaucoma0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1415865615757
HP:0000501HP:0000501Glaucoma0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11415646611119
HP:0000501HP:0000501Glaucoma0LARGE1 CL E G H9215588ORPHA1286511603590
HP:0000501HP:0000501Glaucoma0LARGE1 CL E G H9215899ORPHA1286511603590
HP:0000501HP:0000501Glaucoma0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1286511603590
HP:0000501HP:0000501Glaucoma0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11956654602575
HP:0000501HP:0000501Glaucoma0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1246685604863
HP:0000501HP:0000501Glaucoma0LTBP2 CL E G H405398976ORPHA1296715602091
HP:0000501HP:0000501Glaucoma0LTBP2 CL E G H40533449Mehes syndromeORPHA1296715602091
HP:0000501HP:0000501Glaucoma0LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM1296715602091
HP:0000501HP:0000501Glaucoma0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1246816154235
HP:0000501HP:0000501Glaucoma0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1226901600521
HP:0000501HP:0000501Glaucoma0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1897027604705
HP:0000501HP:0000501Glaucoma0MFRP CL E G H8355235612ORPHA13118121606227
HP:0000501HP:0000501Glaucoma0MYOC CL E G H465398976ORPHA11437610601652
HP:0000501HP:0000501Glaucoma0MYOC CL E G H4653137750Primary open angle glaucoma juvenile onset 1137750C1842028OMIM11437610601652
HP:0000501HP:0000501Glaucoma0NAA10 CL E G H8260568Aggressive fibromatosisORPHA11018704300013
HP:0000501HP:0000501Glaucoma0NDP CL E G H4693190ORPHA11677678300658
HP:0000501HP:0000501Glaucoma0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117745604043
HP:0000501HP:0000501Glaucoma0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM130117765613113
HP:0000501HP:0000501Glaucoma0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1527820300457
HP:0000501HP:0000501Glaucoma0NOD2 CL E G H6412790340ORPHA11215331605956
HP:0000501HP:0000501Glaucoma0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM11215331605956
HP:0000501HP:0000501Glaucoma0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1807974604485
HP:0000501HP:0000501Glaucoma0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1258002162080
HP:0000501HP:0000501Glaucoma0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12648108300535
HP:0000501HP:0000501Glaucoma0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11622567300170
HP:0000501HP:0000501Glaucoma0OVOL2 CL E G H58495122000Posterior polymorphous corneal dystrophy 1122000CN029625OMIM1415804616441
HP:0000501HP:0000501Glaucoma0PAX6 CL E G H5080250923ORPHA15718620607108
HP:0000501HP:0000501Glaucoma0PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15718620607108
HP:0000501HP:0000501Glaucoma0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15334383613425
HP:0000501HP:0000501Glaucoma0PCNT CL E G H5116808Baker Vinters syndromeORPHA18816068605925
HP:0000501HP:0000501Glaucoma0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1518785180071
HP:0000501HP:0000501Glaucoma0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11338786180072
HP:0000501HP:0000501Glaucoma0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA128789180073
HP:0000501HP:0000501Glaucoma0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11408850602136
HP:0000501HP:0000501Glaucoma0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA1298979171833
HP:0000501HP:0000501Glaucoma0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1298979171833
HP:0000501HP:0000501Glaucoma0PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA11049005601542
HP:0000501HP:0000501Glaucoma0PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11049005601542
HP:0000501HP:0000501Glaucoma0PITX2 CL E G H5308137600Iridogoniodysgenesis, dominant type137600C1842031OMIM11049005601542
HP:0000501HP:0000501Glaucoma0PITX3 CL E G H530988632ORPHA1159006602669
HP:0000501HP:0000501Glaucoma0PLK4 CL E G H10733808Baker Vinters syndromeORPHA1611397605031
HP:0000501HP:0000501Glaucoma0PLOD1 CL E G H53511900ORPHA1429081153454
HP:0000501HP:0000501Glaucoma0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1429081153454
HP:0000501HP:0000501Glaucoma0POMGNT1 CL E G H55624588ORPHA18919139606822
HP:0000501HP:0000501Glaucoma0POMGNT1 CL E G H55624899ORPHA18919139606822
HP:0000501HP:0000501Glaucoma0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18919139606822
HP:0000501HP:0000501Glaucoma0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18919139606822
HP:0000501HP:0000501Glaucoma0POMGNT2 CL E G H84892899ORPHA1925902614828
HP:0000501HP:0000501Glaucoma0POMK CL E G H84197899ORPHA1826267615247
HP:0000501HP:0000501Glaucoma0POMT1 CL E G H10585899ORPHA1969202607423
HP:0000501HP:0000501Glaucoma0POMT1 CL E G H10585588ORPHA1969202607423
HP:0000501HP:0000501Glaucoma0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1969202607423
HP:0000501HP:0000501Glaucoma0POMT2 CL E G H29954899ORPHA17519743607439
HP:0000501HP:0000501Glaucoma0POMT2 CL E G H29954588ORPHA17519743607439
HP:0000501HP:0000501Glaucoma0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17519743607439
HP:0000501HP:0000501Glaucoma0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1732528610598
HP:0000501HP:0000501Glaucoma0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1839454604365
HP:0000501HP:0000501Glaucoma0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1717348607301
HP:0000501HP:0000501Glaucoma0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117515446606419
HP:0000501HP:0000501Glaucoma0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1417349607795
HP:0000501HP:0000501Glaucoma0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11115860613979
HP:0000501HP:0000501Glaucoma0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15317340607300
HP:0000501HP:0000501Glaucoma0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11819942179605
HP:0000501HP:0000501Glaucoma0PRSS56 CL E G H64696035612ORPHA12439433613858
HP:0000501HP:0000501Glaucoma0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM15299585601309
HP:0000501HP:0000501Glaucoma0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1119586603673
HP:0000501HP:0000501Glaucoma0PTPN22 CL E G H261913437ORPHA1149652600716
HP:0000501HP:0000501Glaucoma0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA1915508608109
HP:0000501HP:0000501Glaucoma0RBBP8 CL E G H5932808Baker Vinters syndromeORPHA169891604124
HP:0000501HP:0000501Glaucoma0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1189921180290
HP:0000501HP:0000501Glaucoma0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110919977608830
HP:0000501HP:0000501Glaucoma0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM11229949603780
HP:0000501HP:0000501Glaucoma0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1830078609346
HP:0000501HP:0000501Glaucoma0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119990600342
HP:0000501HP:0000501Glaucoma0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121910012180380
HP:0000501HP:0000501Glaucoma0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13710024180090
HP:0000501HP:0000501Glaucoma0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA12434016601428
HP:0000501HP:0000501Glaucoma0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11810254180721
HP:0000501HP:0000501Glaucoma0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119010263603937
HP:0000501HP:0000501Glaucoma0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112110274300757
HP:0000501HP:0000501Glaucoma0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1410288607331
HP:0000501HP:0000501Glaucoma0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120810294180069
HP:0000501HP:0000501Glaucoma0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124510295312610
HP:0000501HP:0000501Glaucoma0RS1 CL E G H6247792ORPHA127910457300839
HP:0000501HP:0000501Glaucoma0RXYLT1 CL E G H10329899ORPHA1813530605862
HP:0000501HP:0000501Glaucoma0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11610521181031
HP:0000501HP:0000501Glaucoma0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM1292135607697
HP:0000501HP:0000501Glaucoma0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1813081611611
HP:0000501HP:0000501Glaucoma0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11710729607292
HP:0000501HP:0000501Glaucoma0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12029242613293
HP:0000501HP:0000501Glaucoma0SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM12211030603345
HP:0000501HP:0000501Glaucoma0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1829326615720
HP:0000501HP:0000501Glaucoma0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13530859601664
HP:0000501HP:0000501Glaucoma0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13920423609868
HP:0000501HP:0000501Glaucoma0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14716466607035
HP:0000501HP:0000501Glaucoma0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1716133611663
HP:0000501HP:0000501Glaucoma0TEK CL E G H701098976ORPHA13511724600221
HP:0000501HP:0000501Glaucoma0TEK CL E G H7010617272Glaucoma 3, primary congenital, E617272C4310639OMIM13511724600221
HP:0000501HP:0000501Glaucoma0TIMP3 CL E G H7078136900Sorsby fundus dystrophy136900C1850938OMIM12111822188826
HP:0000501HP:0000501Glaucoma0TMEM98 CL E G H2602235612ORPHA1624529615949
HP:0000501HP:0000501Glaucoma0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12221653609507
HP:0000501HP:0000501Glaucoma0TRAIP CL E G H10293808Baker Vinters syndromeORPHA1230764605958
HP:0000501HP:0000501Glaucoma0TRIM44 CL E G H54765250923ORPHA1119016612298
HP:0000501HP:0000501Glaucoma0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1212307604507
HP:0000501HP:0000501Glaucoma0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11620087608132
HP:0000501HP:0000501Glaucoma0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1312406601197
HP:0000501HP:0000501Glaucoma0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17512423602280
HP:0000501HP:0000501Glaucoma0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1123412601608400
HP:0000501HP:0000501Glaucoma0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1242464118661
HP:0000501HP:0000501Glaucoma0WFS1 CL E G H7466411590ORPHA139312762606201
HP:0000501HP:0000501Glaucoma0WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118412796607102
HP:0000501HP:0000501Glaucoma0XYLT1 CL E G H641311425Cole-Carpenter syndromeC1862178ORPHA12315516608124
HP:0000501HP:0000501Glaucoma0YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA11324249610957
HP:0000501HP:0000501Glaucoma0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11420041616454
HP:0000501HP:0000501Glaucoma0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1326498613598
HP:0000501HP:0000501Glaucoma1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1128034601691
HP:0000501HP:0000501Glaucoma1ADAMTS10 CL E G H817943449Mehes syndromeORPHA11513201608990
HP:0000501HP:0000501Glaucoma1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM1817109607511
HP:0000501HP:0000501Glaucoma1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA14219605011
HP:0000501HP:0000501Glaucoma1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1926147615900
HP:0000501HP:0000501Glaucoma1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12721869610345
HP:0000501HP:0000501Glaucoma1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19621575608894
HP:0000501HP:0000501Glaucoma1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14348600253
HP:0000501HP:0000501Glaucoma1ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM1229101616062
HP:0000501HP:0000501Glaucoma1ANTXR1 CL E G H841682067ORPHA11421014606410
HP:0000501HP:0000501Glaucoma1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM11421014606410
HP:0000501HP:0000501Glaucoma1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1717090616432
HP:0000501HP:0000501Glaucoma1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1517146615407
HP:0000501HP:0000501Glaucoma1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13694604695
HP:0000501HP:0000501Glaucoma1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12113210608845
HP:0000501HP:0000501Glaucoma1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207714611542
HP:0000501HP:0000501Glaucoma1ATR CL E G H545808Baker Vinters syndromeORPHA134882601215
HP:0000501HP:0000501Glaucoma1ATRIP CL E G H84126808Baker Vinters syndromeORPHA1233499606605
HP:0000501HP:0000501Glaucoma1B3GALNT2 CL E G H148789899ORPHA11628596610194
HP:0000501HP:0000501Glaucoma1B3GALNT2 CL E G H148789588ORPHA11628596610194
HP:0000501HP:0000501Glaucoma1B3GLCT CL E G H145173709ORPHA11520207610308
HP:0000501HP:0000501Glaucoma1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11520207610308
HP:0000501HP:0000501Glaucoma1B4GAT1 CL E G H11041899ORPHA1715685605517
HP:0000501HP:0000501Glaucoma1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105966209901
HP:0000501HP:0000501Glaucoma1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196967606151
HP:0000501HP:0000501Glaucoma1BCOR CL E G H54880568Aggressive fibromatosisORPHA15520893300485
HP:0000501HP:0000501Glaucoma1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15520893300485
HP:0000501HP:0000501Glaucoma1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131912703607854
HP:0000501HP:0000501Glaucoma1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131912703607854
HP:0000501HP:0000501Glaucoma1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1201148602452
HP:0000501HP:0000501Glaucoma1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1291149602860
HP:0000501HP:0000501Glaucoma1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA161151603719
HP:0000501HP:0000501Glaucoma1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11727232614477
HP:0000501HP:0000501Glaucoma1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1101375114760
HP:0000501HP:0000501Glaucoma1CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA12819721613165
HP:0000501HP:0000501Glaucoma1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM12141550613381
HP:0000501HP:0000501Glaucoma1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11329426612753
HP:0000501HP:0000501Glaucoma1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11329426612753
HP:0000501HP:0000501Glaucoma1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14914550609502
HP:0000501HP:0000501Glaucoma1CENPE CL E G H1062808Baker Vinters syndromeORPHA141856117143
HP:0000501HP:0000501Glaucoma1CENPJ CL E G H55835808Baker Vinters syndromeORPHA11017272609279
HP:0000501HP:0000501Glaucoma1CEP152 CL E G H22995808Baker Vinters syndromeORPHA12029298613529
HP:0000501HP:0000501Glaucoma1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1530794607951
HP:0000501HP:0000501Glaucoma1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13921699608381
HP:0000501HP:0000501Glaucoma1CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12129861300350
HP:0000501HP:0000501Glaucoma1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM12224464608429
HP:0000501HP:0000501Glaucoma1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM1732074607042
HP:0000501HP:0000501Glaucoma1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13912605606397
HP:0000501HP:0000501Glaucoma1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1332148123825
HP:0000501HP:0000501Glaucoma1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1622151600724
HP:0000501HP:0000501Glaucoma1COL11A1 CL E G H1301560ORPHA11062186120280
HP:0000501HP:0000501Glaucoma1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11062186120280
HP:0000501HP:0000501Glaucoma1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11062186120280
HP:0000501HP:0000501Glaucoma1COL1A1 CL E G H1277287ORPHA19672197120150
HP:0000501HP:0000501Glaucoma1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15702200120140
HP:0000501HP:0000501Glaucoma1COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA16452201120180
HP:0000501HP:0000501Glaucoma1COL4A1 CL E G H1282899ORPHA11142202120130
HP:0000501HP:0000501Glaucoma1COL5A1 CL E G H1289287ORPHA11592209120215
HP:0000501HP:0000501Glaucoma1COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA11592209120215
HP:0000501HP:0000501Glaucoma1COL5A2 CL E G H1290287ORPHA1392210120190
HP:0000501HP:0000501Glaucoma1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13472343604210
HP:0000501HP:0000501Glaucoma1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13642348600140
HP:0000501HP:0000501Glaucoma1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072383602225
HP:0000501HP:0000501Glaucoma1CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM1272388123580
HP:0000501HP:0000501Glaucoma1CYP1B1 CL E G H154598976ORPHA12432597601771
HP:0000501HP:0000501Glaucoma1DAG1 CL E G H1605899ORPHA1112666128239
HP:0000501HP:0000501Glaucoma1DDX58 CL E G H23586616298Singleton-Merten syndrome 2616298C4225380OMIM1819102609631
HP:0000501HP:0000501Glaucoma1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1820603608172
HP:0000501HP:0000501Glaucoma1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217211605584
HP:0000501HP:0000501Glaucoma1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1913133300205
HP:0000501HP:0000501Glaucoma1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073373602700
HP:0000501HP:0000501Glaucoma1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133821555612424
HP:0000501HP:0000501Glaucoma1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12025808613596
HP:0000501HP:0000501Glaucoma1FAS CL E G H3553437ORPHA114211920134637
HP:0000501HP:0000501Glaucoma1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13723109612411
HP:0000501HP:0000501Glaucoma1FBN1 CL E G H22002084ORPHA127213603134797
HP:0000501HP:0000501Glaucoma1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM127213603134797
HP:0000501HP:0000501Glaucoma1FBN1 CL E G H22003449Mehes syndromeORPHA127213603134797
HP:0000501HP:0000501Glaucoma1FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM127213603134797
HP:0000501HP:0000501Glaucoma1FKRP CL E G H79147588ORPHA114117997606596
HP:0000501HP:0000501Glaucoma1FKRP CL E G H79147899ORPHA114117997606596
HP:0000501HP:0000501Glaucoma1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114117997606596
HP:0000501HP:0000501Glaucoma1FKTN CL E G H2218588ORPHA1593622607440
HP:0000501HP:0000501Glaucoma1FKTN CL E G H2218899ORPHA1593622607440
HP:0000501HP:0000501Glaucoma1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1593622607440
HP:0000501HP:0000501Glaucoma1FOXC1 CL E G H2296250923ORPHA11393800601090
HP:0000501HP:0000501Glaucoma1FOXC1 CL E G H2296601631Anterior segment dysgenesis 3601631C1866560OMIM11393800601090
HP:0000501HP:0000501Glaucoma1FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA11393800601090
HP:0000501HP:0000501Glaucoma1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM11393800601090
HP:0000501HP:0000501Glaucoma1FOXE3 CL E G H230188632ORPHA1313808601094
HP:0000501HP:0000501Glaucoma1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1153960607643
HP:0000501HP:0000501Glaucoma1GJA1 CL E G H26972710Hm syndromeORPHA11094274121014
HP:0000501HP:0000501Glaucoma1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11094274121014
HP:0000501HP:0000501Glaucoma1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11094274121014
HP:0000501HP:0000501Glaucoma1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA1404285603324
HP:0000501HP:0000501Glaucoma1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1214286605425
HP:0000501HP:0000501Glaucoma1GMPPB CL E G H29925588ORPHA14922932615320
HP:0000501HP:0000501Glaucoma1GNAQ CL E G H27763205LBWD syndromeORPHA164390600998
HP:0000501HP:0000501Glaucoma1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA174679602275
HP:0000501HP:0000501Glaucoma1GZF1 CL E G H64412617662JOINT LAXITY, SHORT STATURE, AND MYOPIA617662C4540020OMIM1215808613842
HP:0000501HP:0000501Glaucoma1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17226527610453
HP:0000501HP:0000501Glaucoma1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145385604526
HP:0000501HP:0000501Glaucoma1IDUA CL E G H342593473ORPHA12915391252800
HP:0000501HP:0000501Glaucoma1IDUA CL E G H342593474ORPHA12915391252800
HP:0000501HP:0000501Glaucoma1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12818873606951
HP:0000501HP:0000501Glaucoma1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17229077614620
HP:0000501HP:0000501Glaucoma1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12730391607386
HP:0000501HP:0000501Glaucoma1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1620606600595
HP:0000501HP:0000501Glaucoma1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1246052146690
HP:0000501HP:0000501Glaucoma1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14218362607056
HP:0000501HP:0000501Glaucoma1ISPD CL E G H729920899ORPHA137276614631
HP:0000501HP:0000501Glaucoma1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM137276614631
HP:0000501HP:0000501Glaucoma1KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA1104021136440
HP:0000501HP:0000501Glaucoma1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1922219613344
HP:0000501HP:0000501Glaucoma1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1415865615757
HP:0000501HP:0000501Glaucoma1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11415646611119
HP:0000501HP:0000501Glaucoma1LARGE1 CL E G H9215899ORPHA1286511603590
HP:0000501HP:0000501Glaucoma1LARGE1 CL E G H9215588ORPHA1286511603590
HP:0000501HP:0000501Glaucoma1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1286511603590
HP:0000501HP:0000501Glaucoma1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11956654602575
HP:0000501HP:0000501Glaucoma1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1246685604863
HP:0000501HP:0000501Glaucoma1LTBP2 CL E G H405398976ORPHA1296715602091
HP:0000501HP:0000501Glaucoma1LTBP2 CL E G H40533449Mehes syndromeORPHA1296715602091
HP:0000501HP:0000501Glaucoma1LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM1296715602091
HP:0000501HP:0000501Glaucoma1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1246816154235
HP:0000501HP:0000501Glaucoma1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1226901600521
HP:0000501HP:0000501Glaucoma1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1897027604705
HP:0000501HP:0000501Glaucoma1MFRP CL E G H8355235612ORPHA13118121606227
HP:0000501HP:0000501Glaucoma1MYOC CL E G H465398976ORPHA11437610601652
HP:0000501HP:0000501Glaucoma1MYOC CL E G H4653137750Primary open angle glaucoma juvenile onset 1137750C1842028OMIM11437610601652
HP:0000501HP:0000501Glaucoma1NAA10 CL E G H8260568Aggressive fibromatosisORPHA11018704300013
HP:0000501HP:0000501Glaucoma1NDP CL E G H4693190ORPHA11677678300658
HP:0000501HP:0000501Glaucoma1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117745604043
HP:0000501HP:0000501Glaucoma1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM130117765613113
HP:0000501HP:0000501Glaucoma1NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1527820300457
HP:0000501HP:0000501Glaucoma1NOD2 CL E G H6412790340ORPHA11215331605956
HP:0000501HP:0000501Glaucoma1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM11215331605956
HP:0000501HP:0000501Glaucoma1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1807974604485
HP:0000501HP:0000501Glaucoma1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1258002162080
HP:0000501HP:0000501Glaucoma1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12648108300535
HP:0000501HP:0000501Glaucoma1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11622567300170
HP:0000501HP:0000501Glaucoma1OVOL2 CL E G H58495122000Posterior polymorphous corneal dystrophy 1122000CN029625OMIM1415804616441
HP:0000501HP:0000501Glaucoma1PAX6 CL E G H5080250923ORPHA15718620607108
HP:0000501HP:0000501Glaucoma1PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15718620607108
HP:0000501HP:0000501Glaucoma1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15334383613425
HP:0000501HP:0000501Glaucoma1PCNT CL E G H5116808Baker Vinters syndromeORPHA18816068605925
HP:0000501HP:0000501Glaucoma1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1518785180071
HP:0000501HP:0000501Glaucoma1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11338786180072
HP:0000501HP:0000501Glaucoma1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA128789180073
HP:0000501HP:0000501Glaucoma1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11408850602136
HP:0000501HP:0000501Glaucoma1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA1298979171833
HP:0000501HP:0000501Glaucoma1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1298979171833
HP:0000501HP:0000501Glaucoma1PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA11049005601542
HP:0000501HP:0000501Glaucoma1PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11049005601542
HP:0000501HP:0000501Glaucoma1PITX2 CL E G H5308137600Iridogoniodysgenesis, dominant type137600C1842031OMIM11049005601542
HP:0000501HP:0000501Glaucoma1PITX3 CL E G H530988632ORPHA1159006602669
HP:0000501HP:0000501Glaucoma1PLK4 CL E G H10733808Baker Vinters syndromeORPHA1611397605031
HP:0000501HP:0000501Glaucoma1PLOD1 CL E G H53511900ORPHA1429081153454
HP:0000501HP:0000501Glaucoma1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1429081153454
HP:0000501HP:0000501Glaucoma1POMGNT1 CL E G H55624588ORPHA18919139606822
HP:0000501HP:0000501Glaucoma1POMGNT1 CL E G H55624899ORPHA18919139606822
HP:0000501HP:0000501Glaucoma1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18919139606822
HP:0000501HP:0000501Glaucoma1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18919139606822
HP:0000501HP:0000501Glaucoma1POMGNT2 CL E G H84892899ORPHA1925902614828
HP:0000501HP:0000501Glaucoma1POMK CL E G H84197899ORPHA1826267615247
HP:0000501HP:0000501Glaucoma1POMT1 CL E G H10585899ORPHA1969202607423
HP:0000501HP:0000501Glaucoma1POMT1 CL E G H10585588ORPHA1969202607423
HP:0000501HP:0000501Glaucoma1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1969202607423
HP:0000501HP:0000501Glaucoma1POMT2 CL E G H29954899ORPHA17519743607439
HP:0000501HP:0000501Glaucoma1POMT2 CL E G H29954588ORPHA17519743607439
HP:0000501HP:0000501Glaucoma1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17519743607439
HP:0000501HP:0000501Glaucoma1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1732528610598
HP:0000501HP:0000501Glaucoma1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1839454604365
HP:0000501HP:0000501Glaucoma1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1717348607301
HP:0000501HP:0000501Glaucoma1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117515446606419
HP:0000501HP:0000501Glaucoma1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1417349607795
HP:0000501HP:0000501Glaucoma1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11115860613979
HP:0000501HP:0000501Glaucoma1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15317340607300
HP:0000501HP:0000501Glaucoma1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11819942179605
HP:0000501HP:0000501Glaucoma1PRSS56 CL E G H64696035612ORPHA12439433613858
HP:0000501HP:0000501Glaucoma1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM15299585601309
HP:0000501HP:0000501Glaucoma1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1119586603673
HP:0000501HP:0000501Glaucoma1PTPN22 CL E G H261913437ORPHA1149652600716
HP:0000501HP:0000501Glaucoma1PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA1915508608109
HP:0000501HP:0000501Glaucoma1RBBP8 CL E G H5932808Baker Vinters syndromeORPHA169891604124
HP:0000501HP:0000501Glaucoma1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1189921180290
HP:0000501HP:0000501Glaucoma1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110919977608830
HP:0000501HP:0000501Glaucoma1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM11229949603780
HP:0000501HP:0000501Glaucoma1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1830078609346
HP:0000501HP:0000501Glaucoma1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119990600342
HP:0000501HP:0000501Glaucoma1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121910012180380
HP:0000501HP:0000501Glaucoma1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13710024180090
HP:0000501HP:0000501Glaucoma1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA12434016601428
HP:0000501HP:0000501Glaucoma1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11810254180721
HP:0000501HP:0000501Glaucoma1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119010263603937
HP:0000501HP:0000501Glaucoma1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112110274300757
HP:0000501HP:0000501Glaucoma1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1410288607331
HP:0000501HP:0000501Glaucoma1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120810294180069
HP:0000501HP:0000501Glaucoma1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124510295312610
HP:0000501HP:0000501Glaucoma1RS1 CL E G H6247792ORPHA127910457300839
HP:0000501HP:0000501Glaucoma1RXYLT1 CL E G H10329899ORPHA1813530605862
HP:0000501HP:0000501Glaucoma1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11610521181031
HP:0000501HP:0000501Glaucoma1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM1292135607697
HP:0000501HP:0000501Glaucoma1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1813081611611
HP:0000501HP:0000501Glaucoma1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11710729607292
HP:0000501HP:0000501Glaucoma1SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12029242613293
HP:0000501HP:0000501Glaucoma1SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM12211030603345
HP:0000501HP:0000501Glaucoma1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1829326615720
HP:0000501HP:0000501Glaucoma1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13530859601664
HP:0000501HP:0000501Glaucoma1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13920423609868
HP:0000501HP:0000501Glaucoma1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14716466607035
HP:0000501HP:0000501Glaucoma1TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1716133611663
HP:0000501HP:0000501Glaucoma1TEK CL E G H701098976ORPHA13511724600221
HP:0000501HP:0000501Glaucoma1TEK CL E G H7010617272Glaucoma 3, primary congenital, E617272C4310639OMIM13511724600221
HP:0000501HP:0000501Glaucoma1TIMP3 CL E G H7078136900Sorsby fundus dystrophy136900C1850938OMIM12111822188826
HP:0000501HP:0000501Glaucoma1TMEM98 CL E G H2602235612ORPHA1624529615949
HP:0000501HP:0000501Glaucoma1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12221653609507
HP:0000501HP:0000501Glaucoma1TRAIP CL E G H10293808Baker Vinters syndromeORPHA1230764605958
HP:0000501HP:0000501Glaucoma1TRIM44 CL E G H54765250923ORPHA1119016612298
HP:0000501HP:0000501Glaucoma1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1212307604507
HP:0000501HP:0000501Glaucoma1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11620087608132
HP:0000501HP:0000501Glaucoma1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1312406601197
HP:0000501HP:0000501Glaucoma1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17512423602280
HP:0000501HP:0000501Glaucoma1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1123412601608400
HP:0000501HP:0000501Glaucoma1VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1242464118661
HP:0000501HP:0000501Glaucoma1WFS1 CL E G H7466411590ORPHA139312762606201
HP:0000501HP:0000501Glaucoma1WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118412796607102
HP:0000501HP:0000501Glaucoma1XYLT1 CL E G H641311425Cole-Carpenter syndromeC1862178ORPHA12315516608124
HP:0000501HP:0000501Glaucoma1YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA11324249610957
HP:0000501HP:0000501Glaucoma1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11420041616454
HP:0000501HP:0000501Glaucoma1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1326498613598
HP:0000501HP:0000501Glaucoma2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1128034601691
HP:0000501HP:0000501Glaucoma2ADAMTS10 CL E G H817943449Mehes syndromeORPHA11513201608990
HP:0000501HP:0000501Glaucoma2ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM1817109607511
HP:0000501HP:0000501Glaucoma2ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA14219605011
HP:0000501HP:0000501Glaucoma2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1926147615900
HP:0000501HP:0000501Glaucoma2AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12721869610345
HP:0000501HP:0000501Glaucoma2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19621575608894
HP:0000501HP:0000501Glaucoma2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14348600253
HP:0000501HP:0000501Glaucoma2ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM1229101616062
HP:0000501HP:0000501Glaucoma2ANTXR1 CL E G H841682067ORPHA11421014606410
HP:0000501HP:0000501Glaucoma2ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM11421014606410
HP:0000501HP:0000501Glaucoma2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1717090616432
HP:0000501HP:0000501Glaucoma2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1517146615407
HP:0000501HP:0000501Glaucoma2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13694604695
HP:0000501HP:0000501Glaucoma2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12113210608845
HP:0000501HP:0000501Glaucoma2ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207714611542
HP:0000501HP:0000501Glaucoma2ATR CL E G H545808Baker Vinters syndromeORPHA134882601215
HP:0000501HP:0000501Glaucoma2ATRIP CL E G H84126808Baker Vinters syndromeORPHA1233499606605
HP:0000501HP:0000501Glaucoma2B3GALNT2 CL E G H148789588ORPHA11628596610194
HP:0000501HP:0000501Glaucoma2B3GALNT2 CL E G H148789899ORPHA11628596610194
HP:0000501HP:0000501Glaucoma2B3GLCT CL E G H145173709ORPHA11520207610308
HP:0000501HP:0000501Glaucoma2B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11520207610308
HP:0000501HP:0000501Glaucoma2B4GAT1 CL E G H11041899ORPHA1715685605517
HP:0000501HP:0000501Glaucoma2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105966209901
HP:0000501HP:0000501Glaucoma2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196967606151
HP:0000501HP:0000501Glaucoma2BCOR CL E G H54880568Aggressive fibromatosisORPHA15520893300485
HP:0000501HP:0000501Glaucoma2BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15520893300485
HP:0000501HP:0000501Glaucoma2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131912703607854
HP:0000501HP:0000501Glaucoma2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131912703607854
HP:0000501HP:0000501Glaucoma2BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1201148602452
HP:0000501HP:0000501Glaucoma2BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1291149602860
HP:0000501HP:0000501Glaucoma2BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA161151603719
HP:0000501HP:0000501Glaucoma2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11727232614477
HP:0000501HP:0000501Glaucoma2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1101375114760
HP:0000501HP:0000501Glaucoma2CANT1 CL E G H1245831425Cole-Carpenter syndromeC1862178ORPHA12819721613165
HP:0000501HP:0000501Glaucoma2CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM12141550613381
HP:0000501HP:0000501Glaucoma2CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11329426612753
HP:0000501HP:0000501Glaucoma2CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11329426612753
HP:0000501HP:0000501Glaucoma2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14914550609502
HP:0000501HP:0000501Glaucoma2CENPE CL E G H1062808Baker Vinters syndromeORPHA141856117143
HP:0000501HP:0000501Glaucoma2CENPJ CL E G H55835808Baker Vinters syndromeORPHA11017272609279
HP:0000501HP:0000501Glaucoma2CEP152 CL E G H22995808Baker Vinters syndromeORPHA12029298613529
HP:0000501HP:0000501Glaucoma2CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1530794607951
HP:0000501HP:0000501Glaucoma2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13921699608381
HP:0000501HP:0000501Glaucoma2CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12129861300350
HP:0000501HP:0000501Glaucoma2CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM12224464608429
HP:0000501HP:0000501Glaucoma2CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM1732074607042
HP:0000501HP:0000501Glaucoma2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13912605606397
HP:0000501HP:0000501Glaucoma2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1332148123825
HP:0000501HP:0000501Glaucoma2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1622151600724
HP:0000501HP:0000501Glaucoma2COL11A1 CL E G H1301560ORPHA11062186120280
HP:0000501HP:0000501Glaucoma2COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11062186120280
HP:0000501HP:0000501Glaucoma2COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11062186120280
HP:0000501HP:0000501Glaucoma2COL1A1 CL E G H1277287ORPHA19672197120150
HP:0000501HP:0000501Glaucoma2COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15702200120140
HP:0000501HP:0000501Glaucoma2COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA16452201120180
HP:0000501HP:0000501Glaucoma2COL4A1 CL E G H1282899ORPHA11142202120130
HP:0000501HP:0000501Glaucoma2COL5A1 CL E G H1289287ORPHA11592209120215
HP:0000501HP:0000501Glaucoma2COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA11592209120215
HP:0000501HP:0000501Glaucoma2COL5A2 CL E G H1290287ORPHA1392210120190
HP:0000501HP:0000501Glaucoma2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13472343604210
HP:0000501HP:0000501Glaucoma2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13642348600140
HP:0000501HP:0000501Glaucoma2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072383602225
HP:0000501HP:0000501Glaucoma2CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM1272388123580
HP:0000501HP:0000501Glaucoma2CYP1B1 CL E G H154598976ORPHA12432597601771
HP:0000501HP:0000501Glaucoma2DAG1 CL E G H1605899ORPHA1112666128239
HP:0000501HP:0000501Glaucoma2DDX58 CL E G H23586616298Singleton-Merten syndrome 2616298C4225380OMIM1819102609631
HP:0000501HP:0000501Glaucoma2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1820603608172
HP:0000501HP:0000501Glaucoma2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217211605584
HP:0000501HP:0000501Glaucoma2EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1913133300205
HP:0000501HP:0000501Glaucoma2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073373602700
HP:0000501HP:0000501Glaucoma2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133821555612424
HP:0000501HP:0000501Glaucoma2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12025808613596
HP:0000501HP:0000501Glaucoma2FAS CL E G H3553437ORPHA114211920134637
HP:0000501HP:0000501Glaucoma2FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13723109612411
HP:0000501HP:0000501Glaucoma2FBN1 CL E G H22002084ORPHA127213603134797
HP:0000501HP:0000501Glaucoma2FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM127213603134797
HP:0000501HP:0000501Glaucoma2FBN1 CL E G H22003449Mehes syndromeORPHA127213603134797
HP:0000501HP:0000501Glaucoma2FBN1 CL E G H2200608328Weill-Marchesani syndrome 2608328C1869115OMIM127213603134797
HP:0000501HP:0000501Glaucoma2FKRP CL E G H79147899ORPHA114117997606596
HP:0000501HP:0000501Glaucoma2FKRP CL E G H79147588ORPHA114117997606596
HP:0000501HP:0000501Glaucoma2FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114117997606596
HP:0000501HP:0000501Glaucoma2FKTN CL E G H2218588ORPHA1593622607440
HP:0000501HP:0000501Glaucoma2FKTN CL E G H2218899ORPHA1593622607440
HP:0000501HP:0000501Glaucoma2FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1593622607440
HP:0000501HP:0000501Glaucoma2FOXC1 CL E G H2296250923ORPHA11393800601090
HP:0000501HP:0000501Glaucoma2FOXC1 CL E G H2296601631Anterior segment dysgenesis 3601631C1866560OMIM11393800601090
HP:0000501HP:0000501Glaucoma2FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA11393800601090
HP:0000501HP:0000501Glaucoma2FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM11393800601090
HP:0000501HP:0000501Glaucoma2FOXE3 CL E G H230188632ORPHA1313808601094
HP:0000501HP:0000501Glaucoma2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1153960607643
HP:0000501HP:0000501Glaucoma2GJA1 CL E G H26972710Hm syndromeORPHA11094274121014
HP:0000501HP:0000501Glaucoma2GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11094274121014
HP:0000501HP:0000501Glaucoma2GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11094274121014
HP:0000501HP:0000501Glaucoma2GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA1404285603324
HP:0000501HP:0000501Glaucoma2GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1214286605425
HP:0000501HP:0000501Glaucoma2GMPPB CL E G H29925588ORPHA14922932615320
HP:0000501HP:0000501Glaucoma2GNAQ CL E G H27763205LBWD syndromeORPHA164390600998
HP:0000501HP:0000501Glaucoma2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA174679602275
HP:0000501HP:0000501Glaucoma2GZF1 CL E G H64412617662JOINT LAXITY, SHORT STATURE, AND MYOPIA617662C4540020OMIM1215808613842
HP:0000501HP:0000501Glaucoma2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17226527610453
HP:0000501HP:0000501Glaucoma2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145385604526
HP:0000501HP:0000501Glaucoma2IDUA CL E G H342593474ORPHA12915391252800
HP:0000501HP:0000501Glaucoma2IDUA CL E G H342593473ORPHA12915391252800
HP:0000501HP:0000501Glaucoma2IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12818873606951
HP:0000501HP:0000501Glaucoma2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17229077614620
HP:0000501HP:0000501Glaucoma2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12730391607386
HP:0000501HP:0000501Glaucoma2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1620606600595
HP:0000501HP:0000501Glaucoma2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1246052146690
HP:0000501HP:0000501Glaucoma2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14218362607056
HP:0000501HP:0000501Glaucoma2ISPD CL E G H729920899ORPHA137276614631
HP:0000501HP:0000501Glaucoma2ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM137276614631
HP:0000501HP:0000501Glaucoma2KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA1104021136440
HP:0000501HP:0000501Glaucoma2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1922219613344
HP:0000501HP:0000501Glaucoma2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1415865615757
HP:0000501HP:0000501Glaucoma2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11415646611119
HP:0000501HP:0000501Glaucoma2LARGE1 CL E G H9215588ORPHA1286511603590
HP:0000501HP:0000501Glaucoma2LARGE1 CL E G H9215899ORPHA1286511603590
HP:0000501HP:0000501Glaucoma2LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1286511603590
HP:0000501HP:0000501Glaucoma2LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11956654602575
HP:0000501HP:0000501Glaucoma2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1246685604863
HP:0000501HP:0000501Glaucoma2LTBP2 CL E G H405398976ORPHA1296715602091
HP:0000501HP:0000501Glaucoma2LTBP2 CL E G H40533449Mehes syndromeORPHA1296715602091
HP:0000501HP:0000501Glaucoma2LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM1296715602091
HP:0000501HP:0000501Glaucoma2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1246816154235
HP:0000501HP:0000501Glaucoma2MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1226901600521
HP:0000501HP:0000501Glaucoma2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1897027604705
HP:0000501HP:0000501Glaucoma2MFRP CL E G H8355235612ORPHA13118121606227
HP:0000501HP:0000501Glaucoma2MYOC CL E G H465398976ORPHA11437610601652
HP:0000501HP:0000501Glaucoma2MYOC CL E G H4653137750Primary open angle glaucoma juvenile onset 1137750C1842028OMIM11437610601652
HP:0000501HP:0000501Glaucoma2NAA10 CL E G H8260568Aggressive fibromatosisORPHA11018704300013
HP:0000501HP:0000501Glaucoma2NDP CL E G H4693190ORPHA11677678300658
HP:0000501HP:0000501Glaucoma2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117745604043
HP:0000501HP:0000501Glaucoma2NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM130117765613113
HP:0000501HP:0000501Glaucoma2NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1527820300457
HP:0000501HP:0000501Glaucoma2NOD2 CL E G H6412790340ORPHA11215331605956
HP:0000501HP:0000501Glaucoma2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM11215331605956
HP:0000501HP:0000501Glaucoma2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1807974604485
HP:0000501HP:0000501Glaucoma2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1258002162080
HP:0000501HP:0000501Glaucoma2OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12648108300535
HP:0000501HP:0000501Glaucoma2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11622567300170
HP:0000501HP:0000501Glaucoma2OVOL2 CL E G H58495122000Posterior polymorphous corneal dystrophy 1122000CN029625OMIM1415804616441
HP:0000501HP:0000501Glaucoma2PAX6 CL E G H5080250923ORPHA15718620607108
HP:0000501HP:0000501Glaucoma2PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15718620607108
HP:0000501HP:0000501Glaucoma2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15334383613425
HP:0000501HP:0000501Glaucoma2PCNT CL E G H5116808Baker Vinters syndromeORPHA18816068605925
HP:0000501HP:0000501Glaucoma2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1518785180071
HP:0000501HP:0000501Glaucoma2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11338786180072
HP:0000501HP:0000501Glaucoma2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA128789180073
HP:0000501HP:0000501Glaucoma2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11408850602136
HP:0000501HP:0000501Glaucoma2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA1298979171833
HP:0000501HP:0000501Glaucoma2PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1298979171833
HP:0000501HP:0000501Glaucoma2PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA11049005601542
HP:0000501HP:0000501Glaucoma2PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11049005601542
HP:0000501HP:0000501Glaucoma2PITX2 CL E G H5308137600Iridogoniodysgenesis, dominant type137600C1842031OMIM11049005601542
HP:0000501HP:0000501Glaucoma2PITX3 CL E G H530988632ORPHA1159006602669
HP:0000501HP:0000501Glaucoma2PLK4 CL E G H10733808Baker Vinters syndromeORPHA1611397605031
HP:0000501HP:0000501Glaucoma2PLOD1 CL E G H53511900ORPHA1429081153454
HP:0000501HP:0000501Glaucoma2PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1429081153454
HP:0000501HP:0000501Glaucoma2POMGNT1 CL E G H55624899ORPHA18919139606822
HP:0000501HP:0000501Glaucoma2POMGNT1 CL E G H55624588ORPHA18919139606822
HP:0000501HP:0000501Glaucoma2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18919139606822
HP:0000501HP:0000501Glaucoma2POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18919139606822
HP:0000501HP:0000501Glaucoma2POMGNT2 CL E G H84892899ORPHA1925902614828
HP:0000501HP:0000501Glaucoma2POMK CL E G H84197899ORPHA1826267615247
HP:0000501HP:0000501Glaucoma2POMT1 CL E G H10585588ORPHA1969202607423
HP:0000501HP:0000501Glaucoma2POMT1 CL E G H10585899ORPHA1969202607423
HP:0000501HP:0000501Glaucoma2POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1969202607423
HP:0000501HP:0000501Glaucoma2POMT2 CL E G H29954899ORPHA17519743607439
HP:0000501HP:0000501Glaucoma2POMT2 CL E G H29954588ORPHA17519743607439
HP:0000501HP:0000501Glaucoma2POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17519743607439
HP:0000501HP:0000501Glaucoma2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1732528610598
HP:0000501HP:0000501Glaucoma2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1839454604365
HP:0000501HP:0000501Glaucoma2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1717348607301
HP:0000501HP:0000501Glaucoma2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117515446606419
HP:0000501HP:0000501Glaucoma2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1417349607795
HP:0000501HP:0000501Glaucoma2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11115860613979
HP:0000501HP:0000501Glaucoma2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15317340607300
HP:0000501HP:0000501Glaucoma2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11819942179605
HP:0000501HP:0000501Glaucoma2PRSS56 CL E G H64696035612ORPHA12439433613858
HP:0000501HP:0000501Glaucoma2PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM15299585601309
HP:0000501HP:0000501Glaucoma2PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1119586603673
HP:0000501HP:0000501Glaucoma2PTPN22 CL E G H261913437ORPHA1149652600716
HP:0000501HP:0000501Glaucoma2PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA1915508608109
HP:0000501HP:0000501Glaucoma2RBBP8 CL E G H5932808Baker Vinters syndromeORPHA169891604124
HP:0000501HP:0000501Glaucoma2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1189921180290
HP:0000501HP:0000501Glaucoma2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110919977608830
HP:0000501HP:0000501Glaucoma2RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM11229949603780
HP:0000501HP:0000501Glaucoma2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1830078609346
HP:0000501HP:0000501Glaucoma2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119990600342
HP:0000501HP:0000501Glaucoma2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121910012180380
HP:0000501HP:0000501Glaucoma2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13710024180090
HP:0000501HP:0000501Glaucoma2RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA12434016601428
HP:0000501HP:0000501Glaucoma2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11810254180721
HP:0000501HP:0000501Glaucoma2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119010263603937
HP:0000501HP:0000501Glaucoma2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112110274300757
HP:0000501HP:0000501Glaucoma2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1410288607331
HP:0000501HP:0000501Glaucoma2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120810294180069
HP:0000501HP:0000501Glaucoma2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124510295312610
HP:0000501HP:0000501Glaucoma2RS1 CL E G H6247792ORPHA127910457300839
HP:0000501HP:0000501Glaucoma2RXYLT1 CL E G H10329899ORPHA1813530605862
HP:0000501HP:0000501Glaucoma2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11610521181031
HP:0000501HP:0000501Glaucoma2SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM1292135607697
HP:0000501HP:0000501Glaucoma2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1813081611611
HP:0000501HP:0000501Glaucoma2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11710729607292
HP:0000501HP:0000501Glaucoma2SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12029242613293
HP:0000501HP:0000501Glaucoma2SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM12211030603345
HP:0000501HP:0000501Glaucoma2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1829326615720
HP:0000501HP:0000501Glaucoma2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13530859601664
HP:0000501HP:0000501Glaucoma2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13920423609868
HP:0000501HP:0000501Glaucoma2SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14716466607035
HP:0000501HP:0000501Glaucoma2TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1716133611663
HP:0000501HP:0000501Glaucoma2TEK CL E G H701098976ORPHA13511724600221
HP:0000501HP:0000501Glaucoma2TEK CL E G H7010617272Glaucoma 3, primary congenital, E617272C4310639OMIM13511724600221
HP:0000501HP:0000501Glaucoma2TIMP3 CL E G H7078136900Sorsby fundus dystrophy136900C1850938OMIM12111822188826
HP:0000501HP:0000501Glaucoma2TMEM98 CL E G H2602235612ORPHA1624529615949
HP:0000501HP:0000501Glaucoma2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12221653609507
HP:0000501HP:0000501Glaucoma2TRAIP CL E G H10293808Baker Vinters syndromeORPHA1230764605958
HP:0000501HP:0000501Glaucoma2TRIM44 CL E G H54765250923ORPHA1119016612298
HP:0000501HP:0000501Glaucoma2TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1212307604507
HP:0000501HP:0000501Glaucoma2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11620087608132
HP:0000501HP:0000501Glaucoma2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1312406601197
HP:0000501HP:0000501Glaucoma2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17512423602280
HP:0000501HP:0000501Glaucoma2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1123412601608400
HP:0000501HP:0000501Glaucoma2VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1242464118661
HP:0000501HP:0000501Glaucoma2WFS1 CL E G H7466411590ORPHA139312762606201
HP:0000501HP:0000501Glaucoma2WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118412796607102
HP:0000501HP:0000501Glaucoma2XYLT1 CL E G H641311425Cole-Carpenter syndromeC1862178ORPHA12315516608124
HP:0000501HP:0000501Glaucoma2YARS2 CL E G H510672598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA11324249610957
HP:0000501HP:0000501Glaucoma2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11420041616454
HP:0000501HP:0000501Glaucoma2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1326498613598
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000501HP:0000501Glaucoma0ACVR1 CL E G H90337ORPHA020171102576
HP:0000501HP:0000501Glaucoma0ADAMTS10 CL E G H81794277600Weill-Marchesani syndrome 1277600C1869114OMIM01513201608990
HP:0000501HP:0000501Glaucoma0AGK CL E G H557501369ORPHA02721869610345
HP:0000501HP:0000501Glaucoma0ARVCF CL E G H421567ORPHA02728602269
HP:0000501HP:0000501Glaucoma0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05961605681
HP:0000501HP:0000501Glaucoma0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA05520893300485
HP:0000501HP:0000501Glaucoma0BDNF CL E G H627893ORPHA0351033113505
HP:0000501HP:0000501Glaucoma0BTNL2 CL E G H56244797ORPHA0111142606000
HP:0000501HP:0000501Glaucoma0CBS CL E G H875394ORPHA02141550613381
HP:0000501HP:0000501Glaucoma0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA0728909300859
HP:0000501HP:0000501Glaucoma0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM0101750600023
HP:0000501HP:0000501Glaucoma0CISD2 CL E G H4938563463