Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2700
Gene name	Gap junction protein alpha 3
Gene symbol	GJA3
Synonyms (NCBI Gene)	CTRCT14CX46CZP3
Chromosome	13
Chromosome location	13q12.11
Summary	The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917823	T>C	Pathogenic	Missense variant, coding sequence variant
rs121917825	G>A	Pathogenic	Missense variant, coding sequence variant
rs121917827	C>T	Pathogenic	Missense variant, coding sequence variant
rs140332366	T>A,C,G	Pathogenic	Missense variant, coding sequence variant
rs397514703	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514704	A>T	Pathogenic	Coding sequence variant, missense variant
rs398122937	C>T	Pathogenic	Coding sequence variant, missense variant
rs864309687	G>A	Pathogenic	Coding sequence variant, missense variant
rs864309691	G>A	Pathogenic	Coding sequence variant, missense variant
rs864309694	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs981126461	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1114167307	G>A	Pathogenic	Coding sequence variant, missense variant
rs1114167308	T>G	Pathogenic	Coding sequence variant, missense variant
rs1593332981	->G	Pathogenic	Coding sequence variant, frameshift variant

131

Show/Hide all (131)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045585	hsa-miR-149-5p	CLASH	23622248
MIRT1019627	hsa-miR-106a	CLIP-seq
MIRT1019628	hsa-miR-106b	CLIP-seq
MIRT1019629	hsa-miR-1245	CLIP-seq
MIRT1019630	hsa-miR-1256	CLIP-seq
MIRT1019631	hsa-miR-1271	CLIP-seq
MIRT1019632	hsa-miR-129-5p	CLIP-seq
MIRT1019633	hsa-miR-1297	CLIP-seq
MIRT1019634	hsa-miR-1305	CLIP-seq
MIRT1019635	hsa-miR-130a	CLIP-seq
MIRT1019636	hsa-miR-130b	CLIP-seq
MIRT1019637	hsa-miR-17	CLIP-seq
MIRT1019638	hsa-miR-182	CLIP-seq
MIRT1019639	hsa-miR-193a-3p	CLIP-seq
MIRT1019640	hsa-miR-193b	CLIP-seq
MIRT1019641	hsa-miR-200b	CLIP-seq
MIRT1019642	hsa-miR-200c	CLIP-seq
MIRT1019643	hsa-miR-20a	CLIP-seq
MIRT1019644	hsa-miR-20b	CLIP-seq
MIRT1019645	hsa-miR-26a	CLIP-seq
MIRT1019646	hsa-miR-26b	CLIP-seq
MIRT1019647	hsa-miR-301a	CLIP-seq
MIRT1019648	hsa-miR-301b	CLIP-seq
MIRT1019649	hsa-miR-3136-5p	CLIP-seq
MIRT1019650	hsa-miR-338-5p	CLIP-seq
MIRT1019651	hsa-miR-3591-5p	CLIP-seq
MIRT1019652	hsa-miR-3606	CLIP-seq
MIRT1019653	hsa-miR-3609	CLIP-seq
MIRT1019654	hsa-miR-361-3p	CLIP-seq
MIRT1019655	hsa-miR-3614-5p	CLIP-seq
MIRT1019656	hsa-miR-3663-3p	CLIP-seq
MIRT1019657	hsa-miR-3666	CLIP-seq
MIRT1019658	hsa-miR-429	CLIP-seq
MIRT1019659	hsa-miR-4290	CLIP-seq
MIRT1019660	hsa-miR-4295	CLIP-seq
MIRT1019661	hsa-miR-4434	CLIP-seq
MIRT1019662	hsa-miR-4439	CLIP-seq
MIRT1019663	hsa-miR-4465	CLIP-seq
MIRT1019664	hsa-miR-4470	CLIP-seq
MIRT1019665	hsa-miR-4473	CLIP-seq
MIRT1019666	hsa-miR-4513	CLIP-seq
MIRT1019667	hsa-miR-4516	CLIP-seq
MIRT1019668	hsa-miR-4531	CLIP-seq
MIRT1019669	hsa-miR-454	CLIP-seq
MIRT1019670	hsa-miR-4671-3p	CLIP-seq
MIRT1019671	hsa-miR-4699-3p	CLIP-seq
MIRT1019672	hsa-miR-4720-5p	CLIP-seq
MIRT1019673	hsa-miR-4735-5p	CLIP-seq
MIRT1019674	hsa-miR-4775	CLIP-seq
MIRT1019675	hsa-miR-4796-3p	CLIP-seq
MIRT1019676	hsa-miR-4799-3p	CLIP-seq
MIRT1019677	hsa-miR-483-3p	CLIP-seq
MIRT1019678	hsa-miR-498	CLIP-seq
MIRT1019679	hsa-miR-519d	CLIP-seq
MIRT1019680	hsa-miR-548ah	CLIP-seq
MIRT1019681	hsa-miR-548n	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT1019683	hsa-miR-561	CLIP-seq
MIRT1019684	hsa-miR-587	CLIP-seq
MIRT1019685	hsa-miR-590-3p	CLIP-seq
MIRT1019686	hsa-miR-599	CLIP-seq
MIRT1019687	hsa-miR-668	CLIP-seq
MIRT1019688	hsa-miR-892b	CLIP-seq
MIRT1019689	hsa-miR-921	CLIP-seq
MIRT1019690	hsa-miR-93	CLIP-seq
MIRT1019691	hsa-miR-943	CLIP-seq
MIRT1019692	hsa-miR-96	CLIP-seq
MIRT2001951	hsa-miR-1208	CLIP-seq
MIRT2001952	hsa-miR-1238	CLIP-seq
MIRT2001953	hsa-miR-138	CLIP-seq
MIRT2001954	hsa-miR-3689d	CLIP-seq
MIRT2001955	hsa-miR-4325	CLIP-seq
MIRT2001956	hsa-miR-4443	CLIP-seq
MIRT2001957	hsa-miR-4456	CLIP-seq
MIRT2001958	hsa-miR-452	CLIP-seq
MIRT2001959	hsa-miR-4676-3p	CLIP-seq
MIRT2001960	hsa-miR-4686	CLIP-seq
MIRT2001961	hsa-miR-4747-5p	CLIP-seq
MIRT2001962	hsa-miR-519a	CLIP-seq
MIRT2001963	hsa-miR-519b-3p	CLIP-seq
MIRT2001964	hsa-miR-519c-3p	CLIP-seq
MIRT2001965	hsa-miR-541	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT2001966	hsa-miR-595	CLIP-seq
MIRT2001967	hsa-miR-654-5p	CLIP-seq
MIRT2001968	hsa-miR-659	CLIP-seq
MIRT2001969	hsa-miR-9	CLIP-seq
MIRT2235001	hsa-miR-3150b-3p	CLIP-seq
MIRT2001954	hsa-miR-3689d	CLIP-seq
MIRT2235002	hsa-miR-3921	CLIP-seq
MIRT2235003	hsa-miR-4258	CLIP-seq
MIRT2235004	hsa-miR-4436a	CLIP-seq
MIRT2001956	hsa-miR-4443	CLIP-seq
MIRT2235005	hsa-miR-4649-3p	CLIP-seq
MIRT2235006	hsa-miR-4653-5p	CLIP-seq
MIRT2235007	hsa-miR-4689	CLIP-seq
MIRT1019674	hsa-miR-4775	CLIP-seq
MIRT2235008	hsa-miR-4784	CLIP-seq
MIRT1019675	hsa-miR-4796-3p	CLIP-seq
MIRT2235009	hsa-miR-515-5p	CLIP-seq
MIRT2235010	hsa-miR-539	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT1019685	hsa-miR-590-3p	CLIP-seq
MIRT2235011	hsa-miR-593	CLIP-seq
MIRT2001966	hsa-miR-595	CLIP-seq
MIRT2235012	hsa-miR-888	CLIP-seq
MIRT2001954	hsa-miR-3689d	CLIP-seq
MIRT2001956	hsa-miR-4443	CLIP-seq
MIRT2388470	hsa-miR-548ac	CLIP-seq
MIRT2388471	hsa-miR-548ae	CLIP-seq
MIRT2388472	hsa-miR-548aj	CLIP-seq
MIRT2388473	hsa-miR-548am	CLIP-seq
MIRT2388474	hsa-miR-548d-3p	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT2388475	hsa-miR-548x	CLIP-seq
MIRT2388476	hsa-miR-548z	CLIP-seq
MIRT2001966	hsa-miR-595	CLIP-seq
MIRT2388477	hsa-miR-646	CLIP-seq
MIRT2450284	hsa-miR-3123	CLIP-seq
MIRT2450285	hsa-miR-3925-5p	CLIP-seq
MIRT2450286	hsa-miR-4759	CLIP-seq
MIRT2538852	hsa-miR-4263	CLIP-seq
MIRT2538853	hsa-miR-548a-3p	CLIP-seq
MIRT2538854	hsa-miR-548e	CLIP-seq
MIRT2538855	hsa-miR-548f	CLIP-seq
MIRT2538856	hsa-miR-576-5p	CLIP-seq
MIRT2538852	hsa-miR-4263	CLIP-seq
MIRT2538853	hsa-miR-548a-3p	CLIP-seq
MIRT2538854	hsa-miR-548e	CLIP-seq
MIRT2538855	hsa-miR-548f	CLIP-seq
MIRT2538856	hsa-miR-576-5p	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005886	Component	Plasma membrane	IDA	30044662
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IDA	30044662
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007601	Process	Visual perception	IEA
GO:0016020	Component	Membrane	IEA
GO:0055077	Function	Gap junction hemi-channel activity	IDA	30044662
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:1990349	Process	Gap junction-mediated intercellular transport	IDA	30044662
GO:1990349	Process	Gap junction-mediated intercellular transport	IEA

MIM	HGNC	e!Ensembl
121015	4277	ENSG00000121743

Q9Y6H8

Protein name

Gap junction alpha-3 protein (Connexin-46) (Cx46)

Protein function

Structural component of lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). They are formed by the docking of two hexameric hemichannels, one from each

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	3 → 227	Connexin	Family

Sequence

MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPG
CENVCYDRAFPISHIRFWALQIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESP
SPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFEVGFIAGQYFLYGFELKPLYR
CDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGP
DASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLL
ALTEARGKGQSAKLYNGHHHLLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSP
PLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTTAAQMHQPPLPLGDPGRASKA
SRASSGRARPEDLAI

Sequence length

435

Interactions

View interactions

	Reactome
			Gap junction assembly

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataract 14 multiple types	Likely pathogenic; Pathogenic	rs2141138365, rs2141138396, rs1566515310, rs2141138391, rs2141138370, rs374701362, rs2500171362, rs2500173859, rs864309687, rs864309691, rs1114167307, rs864309694, rs121917823, rs1593332981, rs121917825 View all (19 more)	RCV001542775 RCV001542776 RCV001988373 RCV001971221 RCV002049782 View all (29 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital cataracts-facial dysmorphism-neuropathy syndrome	Likely pathogenic; Pathogenic	rs1114167307	RCV002272192	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Likely pathogenic; Pathogenic	rs864309687, rs864309691, rs1114167307	RCV000203373 RCV000203321 RCV000490765	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CATARACT 14 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 14, MULTIPLE TYPE S	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, PULVERULENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, ZONULAR PULVERULENT 3	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET POSTERIOR POLAR CATARACT	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GJA3-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTERIOR SUBCAPSULAR CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Zonular Pulverulent Cataract	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (61)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenocortical Carcinoma Hereditary	Adrenocortical carcinoma	Pubtator	38178039	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35312356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	28901429	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	BEFREE	29461140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20013805, 25383624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23374644, 40148950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34830485	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28934278	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	10205266, 15208569, 16254549, 16885921, 16971895, 17615540, 20431721, 21386927, 21552498, 21647269, 21897748, 22550389, 22876138, 23592915, 23734083 View all (15 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	15208569, 16885921, 16971895, 17615540, 17893674, 20844585, 21031021, 21681855, 22843197, 22876138, 23300808, 23302783, 23734083, 27228968, 28546921 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	LHGDN	15286166, 16254549, 16885921, 17893674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract Autosomal Dominant	Congenital cataract	Pubtator	14627959, 15208569, 16885921, 22312188, 23592915, 28877251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	35008666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract Pulverulent	Congenital cataract	Pubtator	21647269, 27609163, 29934635, 38178039	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract zonular	Congenital cataract	Pubtator	29934635, 40175916	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract Zonular Pulverulent 1	Congenital cataract	Pubtator	10205266, 16885921	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, AUTOSOMAL DOMINANT	Cataract	BEFREE	21897748, 23734083		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	BEFREE	14627959, 15448617, 22876138		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	ORPHANET_DG	22876138		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	29934635		★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract, Pulverulent	Cataract	BEFREE	21647269		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Pulverulent	Cataract	ORPHANET_DG	22876138		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Zonular Pulverulent 1	Cataract	BEFREE	10205266, 10746562, 16885921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract, Zonular Pulverulent 3	Cataract	UNIPROT_DG	10205266, 10746562, 14627959, 15208569, 15286166, 15448617, 16234473, 16254549, 16885921, 16971895, 17615540, 17893674, 20431721, 21552498, 21647269 View all (7 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Zonular Pulverulent 3	Cataract	GENOMICS_ENGLAND_DG	22312188		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Zonular Pulverulent 3	Cataract	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, Zonular Pulverulent 3	Cataract	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	16204255, 16254549, 17615540, 17893674, 20431721, 21091421, 21552498, 21647269, 22550389, 23302783, 23592915, 24728566, 25635993, 26683566, 28877251, 29461512, 31618082 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG	26694549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital lamellar cataract	Congenital Cataract	BEFREE	29934635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital lamellar cataract	Congenital Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coralliform cataract	Coralliform cataract	BEFREE	22312188, 23592915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28759642, 30797972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28759642, 30797972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early-onset nuclear cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset posterior polar cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal nuclear cataract (disorder)	Cataract	BEFREE	21552498, 25635993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	37589989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31018124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31018124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34830485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	27228968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	17615540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20013805, 25383624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31018124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20013805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	BEFREE	18334946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	23300808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20013805, 21320488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	16234473, 20431721, 21552498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	16234473, 20431721, 21552498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28759642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	LHGDN	17492548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polar cataract	Cataract	BEFREE	21031021, 21681855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	ORPHANET_DG	21031021		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudoaphakia	Cataract	BEFREE	29461140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulverulent cataract	Pulverulent Cataract	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	37589989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	21320488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	23313578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GJA3 (gap junction protein alpha 3)