MYOC (myocilin)

Gene

• Entrez ID: 4653
• Gene name: Myocilin
• Gene symbol: MYOC
• Synonyms (NCBI Gene): GLC1A, GPOA, JOAG, JOAG1, TIGR
• Chromosome: 1
• Chromosome location: 1q24.3
• Summary: MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response pr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936694	C>A	Pathogenic	Coding sequence variant, missense variant
rs74315328	A>G	Pathogenic	Missense variant, coding sequence variant
rs74315329	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs74315330	G>A	Pathogenic	Missense variant, coding sequence variant
rs74315331	A>C,T	Pathogenic	Missense variant, coding sequence variant
rs74315332	G>T	Pathogenic	Missense variant, coding sequence variant
rs74315334	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315335	T>C	Pathogenic	Missense variant, coding sequence variant
rs74315336	T>C	Pathogenic	Missense variant, coding sequence variant
rs74315337	G>A,C,T	Benign, pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant
rs74315338	A>G	Pathogenic	Missense variant, coding sequence variant
rs74315339	C>A	Pathogenic	Missense variant, coding sequence variant
rs74315340	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315341	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909193	C>A	Pathogenic	Missense variant, coding sequence variant
rs121909194	C>G	Pathogenic	Missense variant, coding sequence variant
rs140967767	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs145354114	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs878854408	A>G	Pathogenic	Missense variant, coding sequence variant
rs879255525	T>A	Risk-factor	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005837	hsa-miR-204-5p	Microarray	21282569

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IBA
GO:0001649	Process	Osteoblast differentiation	IDA	23629661
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IDA	17984096
GO:0001968	Function	Fibronectin binding	IPI	11773026
GO:0005109	Function	Frizzled binding	IPI	19188438
GO:0005515	Function	Protein binding	IPI	11773029, 12019210, 19188438, 20926826, 23897819, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	17317787
GO:0005615	Component	Extracellular space	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	17516541
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	17516541
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	17516541
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	11053284
GO:0005794	Component	Golgi apparatus	IEA
GO:0005929	Component	Cilium	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0014734	Process	Skeletal muscle hypertrophy	IEA
GO:0014734	Process	Skeletal muscle hypertrophy	ISS
GO:0016020	Component	Membrane	IEA
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0022011	Process	Myelination in peripheral nervous system	ISS
GO:0030335	Process	Positive regulation of cell migration	IDA	21656515
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0031175	Process	Neuron projection development	IMP	19959812
GO:0031410	Component	Cytoplasmic vesicle	IDA	11431441
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032027	Function	Myosin light chain binding	IPI	11773029
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	ISS
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IDA	17984096
GO:0035567	Process	Non-canonical Wnt signaling pathway	IMP	19188438
GO:0038133	Process	ERBB2-ERBB3 signaling pathway	IEA
GO:0038133	Process	ERBB2-ERBB3 signaling pathway	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043408	Process	Regulation of MAPK cascade	IDA	23629661
GO:0045162	Process	Clustering of voltage-gated sodium channels	IEA
GO:0045162	Process	Clustering of voltage-gated sodium channels	ISS
GO:0046330	Process	Positive regulation of JNK cascade	IMP	19188438
GO:0046872	Function	Metal ion binding	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	IDA	19188438
GO:0051497	Process	Negative regulation of stress fiber assembly	IDA	17984096
GO:0051894	Process	Positive regulation of focal adhesion assembly	IDA	18855004
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	21656515
GO:0051901	Process	Positive regulation of mitochondrial depolarization	IDA	17516541
GO:0060348	Process	Bone development	IEA
GO:0060348	Process	Bone development	ISS
GO:0070062	Component	Extracellular exosome	HDA	21362503, 23533145
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IDA	18855004

Other IDs

• MIM: 601652
• HGNC: 7610
• e!Ensembl: ENSG00000034971

Protein

• UniProt ID: Q99972
• Protein name: Myocilin (Myocilin 55 kDa subunit) (Trabecular meshwork-induced glucocorticoid response protein) [Cleaved into: Myocilin, N-terminal fragment (Myocilin 20 kDa N-terminal fragment); Myocilin, C-terminal fragment (Myocilin 35 kDa N-terminal fragment)]
• Protein function: Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhe
• PDB: 4WXQ, 4WXS, 4WXU, 6OU0, 6OU1, 6OU2, 6OU3, 6PKD, 6PKE, 6PKF, 7SIB, 7SIJ, 7SJT, 7SJU, 7SJV, 7SJW, 7SKD, 7SKE, 7SKF, 7SKG, 7T8D, 8FRR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02191	OLF	248 → 501	Olfactomedin-like domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in aqueous humor (PubMed:12697062). Detected in the eye (at protein level) (PubMed:11431441). Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone m
• Sequence:

  MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESS
  CPEQSQAMSVIHNLQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRE
  LGTLRRERDQLETQTRELETAYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARL
  RRGQCPQTRDTARAVPPGSREVSTWNLDTLAFQELKSELTEVPASRILKESPSGYLRSGE
  GDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPYTQETTWRIDTVGTDVRQVFE
  YDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELNTETVKAEKEI
  PGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETN
  IRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYN
  PLEKKLFAWDNLNMVTYDIKLSKM

• Sequence length: 504

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Glaucoma 1, open angle, A	Pathogenic; Likely pathogenic	rs566289099, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331	RCV003314021 RCV000008409 RCV000008410 RCV000008411 RCV000008412 RCV000008414 RCV000008415 RCV000008417 RCV000008419 RCV000008424 RCV000008425 RCV000023126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma of childhood	Likely pathogenic; Pathogenic	rs2102944863, rs566289099, rs2102944655, rs1572210748, rs74315332, rs2102944466, rs2102944606, rs74315328, rs121909193, rs74315334, rs74315336, rs74315338, rs2527838316	RCV001838863 RCV001838869 RCV001843413 RCV003126018 RCV002248290 RCV002248294 RCV002248300 RCV001843349 RCV001838522 RCV002247272 RCV002247273 RCV002247274 RCV003233472	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Open-angle glaucoma	Likely pathogenic; Pathogenic	rs1447891498, rs2102944632, rs1652918497, rs2102944873, rs2102944665, rs121909194, rs2102944853, rs1652924886, rs2102944566, rs2102944440, rs74315330, rs74315329, rs74315332, rs74315341, rs2527838437, rs74315331	RCV006252487 RCV006442442 RCV006252488 RCV005862523 RCV006261768 RCV006442450 RCV006442452 RCV006252490 RCV006252492 RCV006442757 RCV006261719 RCV006439563 RCV006439564 RCV006261720 RCV006261721 RCV006444058 RCV006252427	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary open angle glaucoma	Pathogenic	rs74315329	RCV000369379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL GLAUCOMA	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Constitutional megaloblastic anemia with severe neurologic disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Benign; Likely benign; Uncertain significance	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLAUCOMA 1, OPEN ANGLE, A, DIGENIC	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma 1, open angle, E	Uncertain significance; Likely benign; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, OPEN-ANGLE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE GLAUCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOC-related disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECLASSIFIED - MYOC POLYMORPHISM	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AL-RAQAD SYNDROME	AL-Raqad Syndrome	BEFREE	23922489		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	25027323		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	25268471		★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	23922489		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	17663725, 17984096, 23028669	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital glaucoma	Congenital glaucoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	31505423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	18427622	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	23566828	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	11857735, 15123989, 31009450		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	32945492	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	21655360, 25027323, 31009450, 32945492, 36579626	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25380136		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	10180507, 10196380, 10209734, 10340787, 10545602, 10798654, 10900113, 11026970, 11152659, 11281418, 11401512, 11595024, 11709019, 11825016, 11857735, 12019210, 12150989, 12189160, 12215093, 12356829, 12442283, 12470758, 12504739, 12522550, 12618402, 12766061, 12782842, 12791035, 12838505, 12847420, 12851728, 12860809, 14619973, 14680806, 14764620, 15069026, 15194423, 15226659, 15235575, 15338275, 15342693, 15354075, 15456875, 15723004, 15733270, 15790895, 15795224, 15823921, 16226543, 16280977, 16288197, 16289048, 16297911, 16392033, 16458712, 16466712, 17197538, 17200186, 17210859, 17210861, 17317787, 17321191, 17417609, 17499207, 17663725, 17966125, 18449353, 18728751, 18804106, 19023451, 19148291, 19234343, 19260140, 19390644, 19668597, 19959812, 20107173, 20334347, 20382707, 20447966, 21283635, 21612213, 21655191, 21709622, 21730848, 21821918, 22004014, 22615763, 22876119, 22879734, 23028769, 23035116, 23129764, 23453510, 23517641, 23886590, 23922489, 24279319, 24333014, 24406458, 24564495, 25027323, 25324685, 25524706, 26396484, 27131906, 27993484, 28038983, 28153738, 28739043, 28973933, 29049729, 29056483, 29402077, 29630620, 29665417, 29724098, 29845210, 30267046, 30389787, 30395621, 30483726, 30802039, 30816137, 31009450, 31060779, 31067323, 31238079, 31270212, 31478904, 7762566, 8684791, 9280311, 9535666, 9548973, 9588210, 9772276, 9863594		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma	Glaucoma	Pubtator	10459044, 11068187, 11774072, 12789137, 12847420, 15235575, 15723004, 16288197, 16636654, 17417609, 17499207, 17563717, 17650508, 17663725, 17984096, 18449353, 19023451, 19145250, 19260140, 19390644, 19668597, 20107173, 20447966, 20926826, 21283635, 21528004, 21552496, 21655191, 22197377, 22615763, 22933836, 23028669, 23028769, 23035116, 23304066, 23517641, 23922489, 24279319, 24333014, 24406458, 24732711, 25027323, 25524706, 26396484, 27080696, 27993484, 28264060, 28575017, 29056483, 29402077, 29630620, 29665417, 30267046, 30557320, 30816137, 30816940, 30906929, 31009450, 31270212, 31655040, 31959993, 32410836, 32937162, 33713785, 34081096, 34264281, 35196929, 36217948, 36579626, 38168102, 39337505, 7762566, 9497363, 9535666, 9772276, 9863594	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma	Glaucoma	LHGDN	11738824, 12782842, 14740993, 15733270, 15823921, 15851979, 17224759, 17321191, 17499207, 18436825, 18852424, 19023451		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma	Glaucoma	GWASCAT_DG	30104761		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma	Glaucoma	CTD_human_DG	30389787		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma	Glaucoma	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma	Glaucoma	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glaucoma 1 Open Angle A	Glaucoma	Pubtator	15547491, 20806035, 21677793, 23566828, 23922489, 24883016, 29540704, 30444892, 32300215, 36543942, 9863594	Associate	★☆☆☆☆ Found in Text Mining only
GLAUCOMA 1, OPEN ANGLE, A	Glaucoma	UNIPROT_DG	10196380, 10330365, 10340788, 10644174, 10798654, 10819638, 10873982, 10916185, 10980537, 11004290, 11774072, 12189160, 12356829, 12362081, 12442283, 12860809, 12872267, 15025728, 15255110, 15534471, 15795224, 16401791, 17210859, 17499207, 25524706, 9005853, 9328473, 9345106, 9361308, 9490287, 9510647, 9521427, 9535666, 9697688, 9792882, 9863594		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLAUCOMA 1, OPEN ANGLE, A	Glaucoma	GENOMICS_ENGLAND_DG	10330365, 9345106		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLAUCOMA 1, OPEN ANGLE, A	Glaucoma	BEFREE	8889553, 9446806		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLAUCOMA 1, OPEN ANGLE, A	Glaucoma	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLAUCOMA 1, OPEN ANGLE, A	Glaucoma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	15723004, 21031026, 23218701, 23922489, 27485216, 31367175, 36217948	Associate	★☆☆☆☆ Found in Text Mining only
GLAUCOMA 3, PRIMARY CONGENITAL, A	Glaucoma	UNIPROT_DG	15733270		★☆☆☆☆ Found in Text Mining only
GLAUCOMA 3, PRIMARY CONGENITAL, A	Glaucoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	25268471	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	BEFREE	10180507, 11152659, 11774072, 12618402, 19668597, 21596299, 21730848, 22879734, 8684791, 9063261		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma of childhood	Glaucoma	ORPHANET_DG	21730848		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma Open Angle	Open angle glaucoma	Pubtator	10321531, 10459044, 10873982, 11815346, 11992263, 12447164, 12789137, 12847420, 14627955, 15108121, 15547491, 15723004, 16148883, 16280977, 16466716, 16636654, 16885188, 16936947, 17417609, 17417611, 17499207, 17563717, 17615537, 18334962, 18385784, 18427622, 18449353, 18776955, 19145250, 19180258, 19390644, 19784393, 20107173, 20668460, 21203411, 21552496, 21655360, 21677793, 22194650, 22550394, 22736945, 22876119, 22879734, 22933836, 23028769, 23304066, 23517641, 23566828, 23922489, 24003086, 24279319, 24406458, 24732711, 25027323, 25414181, 25450062, 25637523, 25669751, 25777973, 26237198, 26396484, 27080696, 27092720, 27900994, 27993484, 28282485, 29402077, 29540704, 30267046, 30444892, 30816137, 30816940, 30906929, 31653660, 32410836, 32476818, 32818018, 32937162, 32945492, 33713785, 33725475, 34081096, 34264281, 35196929, 36220364, 36579626, 37032519, 39809167, 7762566, 8889553, 8981704, 9222961, 9280311, 9510647, 9535666, 9772276, 9832047, 9863594	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	10168351, 10209734, 10532587, 10617907, 10815160, 11026970, 11281418, 11436127, 11774072, 11815346, 12019210, 12107514, 12215093, 12504739, 12847420, 12860809, 15025728, 15452063, 15823921, 16401791, 17122126, 17197538, 17562996, 17893664, 18214788, 18334962, 18385784, 18728751, 19784393, 20334347, 20357201, 20447966, 20806035, 21612213, 21677793, 22879734, 23517641, 23566828, 23886590, 24768183, 24883016, 25582056, 27080696, 28564705, 29402077, 29724098, 30484747, 30802039, 31484937, 8882876, 9280311, 9521427, 9556305, 9588210, 9639450		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	LHGDN	11992263, 12447164, 12522550, 12671462, 12671463, 12860809, 12868033, 12872267, 12912696, 14680806, 14767915, 15255110, 15354075, 15483649, 15534471, 16374045, 16401791, 16431959, 17563717, 17893664, 17893668, 18214788, 18385784, 18591929, 18728751, 18776955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	CTD_human_DG	21059646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	10320784, 10340787, 10340788, 10532587, 10537763, 10617918, 10790582, 10798654, 10815160, 10873982, 10900113, 10916185, 10947851, 10974305, 10980537, 11004290, 11026970, 11097334, 11133859, 11292420, 11298682, 11535458, 11595024, 11604506, 11709019, 11803488, 11825016, 11880716, 11992263, 12142865, 12150989, 12189160, 12215093, 12356829, 12362081, 12442283, 12447164, 12470758, 12504739, 12616399, 12618402, 12671462, 12671463, 12789574, 12851728, 12860809, 12868033, 12912696, 12939304, 14627955, 14680806, 14688426, 14764620, 15021214, 15025728, 15069026, 15123989, 15131358, 15161538, 15226659, 15338275, 15342693, 15354075, 15483649, 15534471, 15547491, 15610237, 15723004, 15790895, 15823921, 16148883, 16186355, 16198165, 16226543, 16280977, 16332362, 16374045, 16431959, 16466712, 16688110, 16863615, 17200186, 17210857, 17317787, 17417609, 17417611, 17499207, 17562996, 17615537, 17893668, 17960117, 17966125, 18303389, 18334962, 18436822, 18591929, 18728751, 18776955, 18804106, 19145250, 19148291, 19390644, 19407846, 19688280, 19723129, 20021252, 20382707, 20668460, 21174523, 21203411, 21552496, 21562585, 21655360, 21677793, 21709622, 21821918, 22004014, 22173078, 22194650, 22550394, 22736945, 22876119, 22933836, 23028769, 23029558, 23304066, 23453510, 23922489, 24055863, 24279319, 24768183, 25330346, 25777973, 26095806, 26237198, 26396484, 27355837, 27485216, 27820874, 27851990, 27900994, 27993484, 28282485, 28564705, 28973933, 29263415, 30444892, 30483726, 30612094, 30977407, 31238079, 8684791, 8882876, 8946170, 9063261, 9222961, 9300658, 9328473, 9361308, 9446806, 9490287, 9521427, 9535666, 9548973, 9556305, 9588210, 9754180, 9772276, 9804137, 9832047, 9863594		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	CLINVAR_DG	10815160, 11535458, 11803488, 11815346, 12189160, 12872267, 17562996, 17615537, 19023451, 20021252, 22933836, 23304066, 24732711, 9005853, 9639450		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	CTD_human_DG	21059646		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	15610237		★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	32945492	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31505423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrophthalmos	Glaucoma, congenital	BEFREE	10180507, 11152659, 11774072, 12618402, 19668597, 21596299, 21730848, 22879734, 23378721, 8684791, 9063261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrophthalmos	Glaucoma, congenital	ORPHANET_DG	15733270, 21168818, 21730848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	24417561		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Hypertension	Intracranial hypertension	Pubtator	21283635, 22615763	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile glaucoma	Glaucoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	11298682, 12504739, 14688426, 15851979, 27485216, 30816940, 31238079		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22615763		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	36834493	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19390644	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	17438518, 19180258, 19260140, 24766640	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	BEFREE	20595200		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	20595200		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	12838505		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12838505		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36834493	Associate	★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	11133859, 11431441, 11815346, 12504739, 17615537, 19148291, 23304066, 23922489, 24333014, 24417561, 28167045, 9222961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular Hypertension	Ocular hypertension	Pubtator	11815346, 16936947, 21655191, 23304066, 24333014, 30267046, 32937162, 9222961	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular Hypertension	Ocular Hypertension	LHGDN	19148291		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular Hypertension	Ocular Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Neuropathy	Optic Neuropathy	BEFREE	23129764, 9222961		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17562996		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	25268471		★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	BEFREE	15342693, 15723004, 15733270, 16863615, 17224759, 17893647, 18852424, 21031026, 21168818, 21850185, 22942166, 23922489, 24940937, 26220699		★☆☆☆☆ Found in Text Mining only
Retinal Artery Occlusion	Retinal Artery Occlusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary Open Angle Glaucoma	Open Angle Glaucoma	CTD_human_DG	21059646		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	17438518, 19180258, 19260140, 22809227, 24766640		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temporal pallor of optic disc	Temporal Pallor Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	22197377, 24279319, 32937162, 32945492	Associate	★☆☆☆☆ Found in Text Mining only