EFEMP1 (EGF containing fibulin extracellular matrix protein 1)

Gene

• Entrez ID: 2202
• Gene name: EGF containing fibulin extracellular matrix protein 1
• Gene symbol: EFEMP1
• Synonyms (NCBI Gene): ARCL1D, DHRD, DRAD, FBLN3, FBNL, FIBL-3, GLC1H, MLVT, MTLV, S1-5
• Chromosome: 2
• Chromosome location: 2p16.1
• Summary: This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs765517862	A>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1572850869	CATGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572851186	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT953659	hsa-miR-101	CLIP-seq
MIRT953660	hsa-miR-1225-5p	CLIP-seq
MIRT953661	hsa-miR-1226	CLIP-seq
MIRT953662	hsa-miR-1273e	CLIP-seq
MIRT953663	hsa-miR-133a	CLIP-seq
MIRT953664	hsa-miR-133b	CLIP-seq
MIRT953665	hsa-miR-144	CLIP-seq
MIRT953666	hsa-miR-186	CLIP-seq
MIRT953667	hsa-miR-197	CLIP-seq
MIRT953668	hsa-miR-3127-5p	CLIP-seq
MIRT953669	hsa-miR-3140-5p	CLIP-seq
MIRT953670	hsa-miR-3144-3p	CLIP-seq
MIRT953671	hsa-miR-3156-3p	CLIP-seq
MIRT953672	hsa-miR-3163	CLIP-seq
MIRT953673	hsa-miR-3177-5p	CLIP-seq
MIRT953674	hsa-miR-365	CLIP-seq
MIRT953675	hsa-miR-3668	CLIP-seq
MIRT953676	hsa-miR-3691-3p	CLIP-seq
MIRT953677	hsa-miR-3935	CLIP-seq
MIRT953678	hsa-miR-3976	CLIP-seq
MIRT953679	hsa-miR-4270	CLIP-seq
MIRT953680	hsa-miR-4280	CLIP-seq
MIRT953681	hsa-miR-4281	CLIP-seq
MIRT953682	hsa-miR-4301	CLIP-seq
MIRT953683	hsa-miR-4441	CLIP-seq
MIRT953684	hsa-miR-4452	CLIP-seq
MIRT953685	hsa-miR-4496	CLIP-seq
MIRT953686	hsa-miR-4680-3p	CLIP-seq
MIRT953687	hsa-miR-4733-3p	CLIP-seq
MIRT953688	hsa-miR-4795-3p	CLIP-seq
MIRT953689	hsa-miR-5096	CLIP-seq
MIRT953690	hsa-miR-587	CLIP-seq
MIRT953659	hsa-miR-101	CLIP-seq
MIRT1548201	hsa-miR-1262	CLIP-seq
MIRT953665	hsa-miR-144	CLIP-seq
MIRT1548202	hsa-miR-28-3p	CLIP-seq
MIRT1548203	hsa-miR-3115	CLIP-seq
MIRT953673	hsa-miR-3177-5p	CLIP-seq
MIRT1548204	hsa-miR-3659	CLIP-seq
MIRT953675	hsa-miR-3668	CLIP-seq
MIRT953677	hsa-miR-3935	CLIP-seq
MIRT953678	hsa-miR-3976	CLIP-seq
MIRT953684	hsa-miR-4452	CLIP-seq
MIRT1548205	hsa-miR-4658	CLIP-seq
MIRT1548206	hsa-miR-4701-3p	CLIP-seq
MIRT1548207	hsa-miR-574-5p	CLIP-seq
MIRT953659	hsa-miR-101	CLIP-seq
MIRT953662	hsa-miR-1273e	CLIP-seq
MIRT953663	hsa-miR-133a	CLIP-seq
MIRT953664	hsa-miR-133b	CLIP-seq
MIRT953665	hsa-miR-144	CLIP-seq
MIRT953666	hsa-miR-186	CLIP-seq
MIRT953667	hsa-miR-197	CLIP-seq
MIRT1548202	hsa-miR-28-3p	CLIP-seq
MIRT953671	hsa-miR-3156-3p	CLIP-seq
MIRT953673	hsa-miR-3177-5p	CLIP-seq
MIRT1556259	hsa-miR-3591-5p	CLIP-seq
MIRT953675	hsa-miR-3668	CLIP-seq
MIRT1556260	hsa-miR-3681	CLIP-seq
MIRT953676	hsa-miR-3691-3p	CLIP-seq
MIRT953677	hsa-miR-3935	CLIP-seq
MIRT953678	hsa-miR-3976	CLIP-seq
MIRT953681	hsa-miR-4281	CLIP-seq
MIRT953682	hsa-miR-4301	CLIP-seq
MIRT1556261	hsa-miR-4317	CLIP-seq
MIRT1556262	hsa-miR-4460	CLIP-seq
MIRT953685	hsa-miR-4496	CLIP-seq
MIRT1556263	hsa-miR-4727-3p	CLIP-seq
MIRT1556264	hsa-miR-4735-5p	CLIP-seq
MIRT953689	hsa-miR-5096	CLIP-seq
MIRT1548203	hsa-miR-3115	CLIP-seq
MIRT953670	hsa-miR-3144-3p	CLIP-seq
MIRT953674	hsa-miR-365	CLIP-seq
MIRT953678	hsa-miR-3976	CLIP-seq
MIRT953684	hsa-miR-4452	CLIP-seq
MIRT953661	hsa-miR-1226	CLIP-seq
MIRT953662	hsa-miR-1273e	CLIP-seq
MIRT2521224	hsa-miR-1279	CLIP-seq
MIRT953663	hsa-miR-133a	CLIP-seq
MIRT953664	hsa-miR-133b	CLIP-seq
MIRT2521225	hsa-miR-140-3p	CLIP-seq
MIRT953666	hsa-miR-186	CLIP-seq
MIRT953667	hsa-miR-197	CLIP-seq
MIRT2521226	hsa-miR-29a	CLIP-seq
MIRT2521227	hsa-miR-29b	CLIP-seq
MIRT2521228	hsa-miR-29c	CLIP-seq
MIRT2521229	hsa-miR-3120-3p	CLIP-seq
MIRT953671	hsa-miR-3156-3p	CLIP-seq
MIRT2521230	hsa-miR-3185	CLIP-seq
MIRT2521231	hsa-miR-325	CLIP-seq
MIRT2521232	hsa-miR-338-3p	CLIP-seq
MIRT1556259	hsa-miR-3591-5p	CLIP-seq
MIRT2521233	hsa-miR-3672	CLIP-seq
MIRT1556260	hsa-miR-3681	CLIP-seq
MIRT953676	hsa-miR-3691-3p	CLIP-seq
MIRT2521234	hsa-miR-3908	CLIP-seq
MIRT953680	hsa-miR-4280	CLIP-seq
MIRT953681	hsa-miR-4281	CLIP-seq
MIRT953682	hsa-miR-4301	CLIP-seq
MIRT1556261	hsa-miR-4317	CLIP-seq
MIRT1556262	hsa-miR-4460	CLIP-seq
MIRT953685	hsa-miR-4496	CLIP-seq
MIRT2521235	hsa-miR-4503	CLIP-seq
MIRT2521236	hsa-miR-4633-3p	CLIP-seq
MIRT2521237	hsa-miR-4635	CLIP-seq
MIRT2521238	hsa-miR-4709-3p	CLIP-seq
MIRT1556263	hsa-miR-4727-3p	CLIP-seq
MIRT953687	hsa-miR-4733-3p	CLIP-seq
MIRT953689	hsa-miR-5096	CLIP-seq
MIRT2521239	hsa-miR-548c-3p	CLIP-seq
MIRT2521240	hsa-miR-628-3p	CLIP-seq
MIRT2521241	hsa-miR-634	CLIP-seq
MIRT953661	hsa-miR-1226	CLIP-seq
MIRT953662	hsa-miR-1273e	CLIP-seq
MIRT2679783	hsa-miR-1297	CLIP-seq
MIRT953663	hsa-miR-133a	CLIP-seq
MIRT953664	hsa-miR-133b	CLIP-seq
MIRT2521225	hsa-miR-140-3p	CLIP-seq
MIRT953666	hsa-miR-186	CLIP-seq
MIRT953667	hsa-miR-197	CLIP-seq
MIRT2679784	hsa-miR-26a	CLIP-seq
MIRT2679785	hsa-miR-26b	CLIP-seq
MIRT2521226	hsa-miR-29a	CLIP-seq
MIRT2521227	hsa-miR-29b	CLIP-seq
MIRT2521228	hsa-miR-29c	CLIP-seq
MIRT953671	hsa-miR-3156-3p	CLIP-seq
MIRT2521230	hsa-miR-3185	CLIP-seq
MIRT2521231	hsa-miR-325	CLIP-seq
MIRT2679786	hsa-miR-340	CLIP-seq
MIRT1556259	hsa-miR-3591-5p	CLIP-seq
MIRT2679787	hsa-miR-3606	CLIP-seq
MIRT2679788	hsa-miR-3616-5p	CLIP-seq
MIRT2679789	hsa-miR-3647-5p	CLIP-seq
MIRT953674	hsa-miR-365	CLIP-seq
MIRT2521233	hsa-miR-3672	CLIP-seq
MIRT1556260	hsa-miR-3681	CLIP-seq
MIRT953676	hsa-miR-3691-3p	CLIP-seq
MIRT953680	hsa-miR-4280	CLIP-seq
MIRT953681	hsa-miR-4281	CLIP-seq
MIRT953682	hsa-miR-4301	CLIP-seq
MIRT1556261	hsa-miR-4317	CLIP-seq
MIRT1556262	hsa-miR-4460	CLIP-seq
MIRT2679790	hsa-miR-4465	CLIP-seq
MIRT953685	hsa-miR-4496	CLIP-seq
MIRT2521235	hsa-miR-4503	CLIP-seq
MIRT2521236	hsa-miR-4633-3p	CLIP-seq
MIRT2521237	hsa-miR-4635	CLIP-seq
MIRT2679791	hsa-miR-4639-3p	CLIP-seq
MIRT2679792	hsa-miR-4659a-3p	CLIP-seq
MIRT2679793	hsa-miR-4659b-3p	CLIP-seq
MIRT2679794	hsa-miR-4677-3p	CLIP-seq
MIRT2679795	hsa-miR-4679	CLIP-seq
MIRT2521238	hsa-miR-4709-3p	CLIP-seq
MIRT1556263	hsa-miR-4727-3p	CLIP-seq
MIRT953687	hsa-miR-4733-3p	CLIP-seq
MIRT1556264	hsa-miR-4735-5p	CLIP-seq
MIRT2679796	hsa-miR-4755-3p	CLIP-seq
MIRT2679797	hsa-miR-4782-5p	CLIP-seq
MIRT2679798	hsa-miR-4795-5p	CLIP-seq
MIRT953689	hsa-miR-5096	CLIP-seq
MIRT2679799	hsa-miR-513a-3p	CLIP-seq
MIRT2679800	hsa-miR-539	CLIP-seq
MIRT2679801	hsa-miR-548aa	CLIP-seq
MIRT2679802	hsa-miR-548ac	CLIP-seq
MIRT2679803	hsa-miR-548ae	CLIP-seq
MIRT2679804	hsa-miR-548aj	CLIP-seq
MIRT2679805	hsa-miR-548am	CLIP-seq
MIRT2679806	hsa-miR-548d-3p	CLIP-seq
MIRT2679807	hsa-miR-548u	CLIP-seq
MIRT2679808	hsa-miR-548x	CLIP-seq
MIRT2679809	hsa-miR-548z	CLIP-seq
MIRT2679810	hsa-miR-573	CLIP-seq
MIRT2679811	hsa-miR-590-3p	CLIP-seq
MIRT2521240	hsa-miR-628-3p	CLIP-seq
MIRT2679812	hsa-miR-668	CLIP-seq
MIRT2679813	hsa-miR-921	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005006	Function	Epidermal growth factor receptor activity	IDA	19804359
GO:0005154	Function	Epidermal growth factor receptor binding	IDA	19804359
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 28675934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12620389, 16189514, 16713569, 18985028, 19275936, 21653829, 25416956, 25910212, 26871637, 31515488, 32296183, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005615	Component	Extracellular space	IDA	20005202
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	20005202
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	19804359
GO:0007601	Process	Visual perception	TAS	10369267
GO:0008083	Function	Growth factor activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	19804359
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	IMP	35998264
GO:0031012	Component	Extracellular matrix	TAS	10369267
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IDA	20005202
GO:0043010	Process	Camera-type eye development	IEP	25406291
GO:0048048	Process	Embryonic eye morphogenesis	IEP	25406291
GO:0048050	Process	Post-embryonic eye morphogenesis	IEP	25406291
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 601548
• HGNC: 3218
• e!Ensembl: ENSG00000115380

Protein

• UniProt ID: Q12805
• Protein name: EGF-containing fibulin-like extracellular matrix protein 1 (Extracellular protein S1-5) (Fibrillin-like protein) (Fibulin-3) (FIBL-3)
• Protein function: Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfa
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07645	EGF_CA	44 → 85	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	173 → 212	Calcium-binding EGF domain	Domain
  PF12662	cEGF	234 → 257	Complement Clr-like EGF-like	Domain
  PF12662	cEGF	274 → 297	Complement Clr-like EGF-like	Domain
  PF07645	EGF_CA	334 → 381	Calcium-binding EGF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: In the eye, associated with photoreceptor outer and inner segment regions, the nerve fiber layer, outer nuclear layer and inner and outer plexiform layers of the retina. {ECO:0000269|PubMed:12242346, ECO:0000269|PubMed:20005202}.
• Sequence:

  MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMK
  CVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGGFVA
  SAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAG
  THNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDECTIPPYCHQRCVNTPGSFYCQCS
  PGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQGYELSSDRLNCEDIDECRT
  SSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQDINECETTNECREDEMCWNYHGGFRCY
  PRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATTIYA
  NTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSS
  VLRLTIIVGPFSF

• Sequence length: 493

Pathways

Reactome:

Molecules associated with elastic fibres

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
Blindness	Likely pathogenic	rs1553348960	RCV000626733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa	Pathogenic	rs2104369155	RCV001354060	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa, autosomal recessive, type 1d	Pathogenic	rs2104369155, rs765517862, rs1572850869	RCV003991511 RCV003991509 RCV003991508	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Doyne honeycomb retinal dystrophy	Likely pathogenic; Pathogenic	rs121434491	RCV000008539	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EFEMP1-related disorder	Likely pathogenic	rs2465744658	RCV003410457	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma 1, open angle, H	Pathogenic	rs2104452781, rs2104360072	RCV003892045 RCV003892046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma of childhood	Pathogenic; Likely pathogenic	rs2104452781, rs2104360072, rs1448130623	RCV001718566 RCV001718567 RCV001716245	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Likely pathogenic	rs1553348960	RCV000626733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Night blindness	Likely pathogenic	rs1553348960	RCV000626733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic disc drusen	Likely pathogenic	rs1553348960	RCV000626733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121434491	RCV001074275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal pigment epithelial atrophy	Likely pathogenic	rs1553348960	RCV000626733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARACHNODACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC VENOUS INSUFFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HERNIA OF FORAMEN OF BOCHDALEK	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF VISUAL SYSTEM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYELID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, OPEN-ANGLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE GLAUCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	ClinGen, GWAS catalog ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OPTIC NEURITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recessive Marfanoid Syndrome with Severe Herniation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISUAL PATHWAY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	17671114		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	19208748		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19804359		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	19208748		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	17671114		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	17671114		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	17671114		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	24080855		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	21744999		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	12242346, 12427233, 15218514, 15512998, 17664227, 17666404, 22031286, 22581936, 23230284, 23365660, 25481286, 26427406, 28264101, 28622396, 29097185		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	12242346, 12427233		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26950848	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30565683		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32792518	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	Pubtator	38348595	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asbestosis	Asbestosis	BEFREE	29200597		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32393163	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	30102696		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Atresia	Biliary Atresia	GWASCAT_DG	30102696		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Atresia	Biliary atresia	Pubtator	36114336	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28504717		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	34923728	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain Neoplasms	Brain Neoplasms	BEFREE	26307682, 28414309		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19115204, 25823021		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19115204		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20132413	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	29689558	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23936443	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28504717		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17671114, 21901248, 24142183, 24480807		★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	17671114		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	17671114		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24236050		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	38348595	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	GWASCAT_DG	30833571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	30833571	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	20378157, 21163514, 30006571		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	30006571		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	20378157, 21163514, 30006571		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29689558		★☆☆☆☆ Found in Text Mining only
Chronic venous insufficiency	Venous Insufficiency	GWASCAT_DG	28374850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17892325		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21744999, 21796503, 30784281		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17892325		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21796503, 38172877	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	30102696		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	31792352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective tissue disease	Pubtator	31792352, 33807164	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa	Cutis laxa	Pubtator	22872678, 33807164	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Degenerative polyarthritis	Arthritis	BEFREE	27780308, 29366335, 29547667		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	39909351	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16087305		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16087305		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	11328725, 16799055, 23036572		★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	GWASCAT_DG	30177863		★☆☆☆☆ Found in Text Mining only
DOYNE HONEYCOMB RETINAL DYSTROPHY	Doyne Honeycomb Retinal Dystrophy	BEFREE	10369267, 10585764, 10982184, 11262647, 11913893, 12427233, 12915309, 15218514, 17666404, 20206286, 23943789, 25082885, 25111685, 29730901, 30541486		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DOYNE HONEYCOMB RETINAL DYSTROPHY	Doyne Honeycomb Retinal Dystrophy	UNIPROT_DG	10369267, 11384588, 12242346, 17666404		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Doyne honeycomb retinal dystrophy	Doyne honeycomb retinal dystrophy	Pubtator	12242346, 18791549, 19850834, 22031286, 22872678, 23230284, 25077532, 25082885, 25389134, 25481286, 30541486, 30626431, 31792352, 33542268, 33689237, 34559486, 34923728	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DOYNE HONEYCOMB RETINAL DYSTROPHY	Doyne Honeycomb Retinal Dystrophy	ORPHANET_DG	19850834		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DOYNE HONEYCOMB RETINAL DYSTROPHY	Doyne Honeycomb Retinal Dystrophy	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DOYNE HONEYCOMB RETINAL DYSTROPHY	Doyne Honeycomb Retinal Dystrophy	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DOYNE HONEYCOMB RETINAL DYSTROPHY	Doyne Honeycomb Retinal Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Drusen	Drusen	BEFREE	11262647, 11384588, 12242346, 12427233, 15218514, 16799055, 23036572, 23943789, 26427406, 30541486		★☆☆☆☆ Found in Text Mining only
Drusen, Radial, Autosomal Dominant	Drusen	ORPHANET_DG	19850834		★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	40243889	Stimulate	★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	33807164	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23840707		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32555395	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	35127942	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	29730901, 33542268	Associate	★☆☆☆☆ Found in Text Mining only
Familial drusen	Drusen	Orphanet			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	26702771		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32792518	Associate	★☆☆☆☆ Found in Text Mining only
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	BEFREE	20206286		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	11913893		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	18432317, 21552472, 22876139, 32476818, 33542268, 34923728	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	LHGDN	17210857		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	17210857, 21552472, 26162006		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24495907, 28292024, 28414309, 29146721		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21955618, 24495907, 28292024, 28414309, 29146721		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19887559, 22665268, 23660683, 25638659, 26307682, 26823870, 27706619, 28380465		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26823870, 27706619, 28380465	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	17666404		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29689558, 31599437		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	26702771	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19898900, 23936443, 27108677		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17671114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17671114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	24480807		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	33226065	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21796503, 28085790	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24236050, 34204134	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	12242346, 14691731, 20981449, 22031286, 23230284, 23365660, 23840815, 25481286, 29097185, 29730901, 33542268	Associate	★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	22581936, 28622396		★☆☆☆☆ Found in Text Mining only
MACULAR DEGENERATION, EARLY-ONSET	Macular Degeneration	BEFREE	29095988		★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	22031286, 23230284, 25481286, 28264101		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Macular dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malattia Leventinese	Malattia Leventinese	BEFREE	10369267, 11262647, 11913893, 12242346, 12427233, 12431256, 15218514, 15512998, 17664227, 17666404, 18791549, 22031286, 23230284, 25111685, 30541486, 31095679		★☆☆☆☆ Found in Text Mining only
Malattia Leventinese	Malattia Leventinese	ORPHANET_DG	19850834		★☆☆☆☆ Found in Text Mining only
Malattia Leventinese	Malattia Leventinese	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malattia Leventinese	Malattia Leventinese	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	21955618, 28414309, 29290950		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	27032653		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	27453164, 28314308, 28395242, 28713671, 29664355, 31237454		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19115204, 25823021		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19115204		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17671114, 21901248, 24142183, 24480807		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17671114		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24236050		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19208748, 25451256		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	19208748		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25211630, 25638659, 29453167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24718752, 28013168		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25211630, 28504717		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24142183, 25211630, 25451256, 26307682, 27095449, 27777122, 28395242, 28706906, 29290950		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20378157, 21163514, 30006571		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19115204		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	19115204		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19115204		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19115204		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	35998264, 38348595	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	29200597		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	33230247, 34116230	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	27713145, 33226065, 33230247, 34116230	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34204134	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	31792352	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	20927779		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19115204, 19208748, 19804359, 19887559, 20927779, 21163514, 21170264, 21744999, 21955618, 22665268, 23840707, 23936443, 24080855, 24142183, 24236050, 24718752, 25451256, 25548290, 25638659, 26307682, 27095449, 28414309, 29146721, 30738056		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	22665268		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19913326, 21901248		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	32393163	Associate	★☆☆☆☆ Found in Text Mining only
Optic Disk Drusen	Optic Disk Drusen	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	39261869	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29195846		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23144859	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25987128, 28740094		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	24236050		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24236050		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24236050	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19208748, 25451256		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	19208748		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25451256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	34768133	Inhibit	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	28314308		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	31792352		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25211630, 25638659, 29453167		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25211630	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28085790	Inhibit	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30146751		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	21094933		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	33226065	Associate	★☆☆☆☆ Found in Text Mining only
Reticular pigmentary degeneration	Reticular pigmentary degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	25389134	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	16799055		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	11913893, 18791549, 26427406		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	37726478	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29533545		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	31792352	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	31792352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Diseases	Skin disease	Pubtator	38348595	Associate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	19115204		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30738056		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24718752, 28013168		★☆☆☆☆ Found in Text Mining only
Syndactyly type 2	Syndactyly	Pubtator	31792352	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30046386		★☆☆☆☆ Found in Text Mining only
Tumoral Calcinosis Hyperphosphatemic Familial	Tumoral calcinosis	Pubtator	29689558	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25211630, 34936728, 35473807	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	BEFREE	25211630		★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	35127942	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	26702771		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	29689558	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	37537391	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	33689237	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	23936443, 8812496		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	23936443	Associate	★☆☆☆☆ Found in Text Mining only