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	4054
Gene name	Latent transforming growth factor beta binding protein 3
Gene symbol	LTBP3
Synonyms (NCBI Gene)	DASSGPHYSD3LTBP-3LTBP2STHAG6pp6425
Chromosome	11
Chromosome location	11q13.1
Summary	The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909145	G>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs145001056	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs752375653	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs796052116	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs875989822	TTTGAGCCGGTAGC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs875989823	C>A	Pathogenic	Splice donor variant
rs875989824	C>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs878853036	G>A	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs878853262	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064794603	GC>AG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1188540819	C>T	Pathogenic	Intron variant
rs1286042594	C>-	Pathogenic	Non coding transcript variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1554973844	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained

Show/Hide all (39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045534	hsa-miR-149-5p	CLASH	23622248
MIRT045534	hsa-miR-149-5p	CLASH	23622248
MIRT040731	hsa-miR-92b-3p	CLASH	23622248
MIRT035867	hsa-miR-1249-3p	CLASH	23622248
MIRT1122172	hsa-miR-1276	CLIP-seq
MIRT1122173	hsa-miR-3622a-5p	CLIP-seq
MIRT1122174	hsa-miR-4311	CLIP-seq
MIRT1122175	hsa-miR-583	CLIP-seq
MIRT2390394	hsa-miR-4728-5p	CLIP-seq
MIRT2465593	hsa-miR-1291	CLIP-seq
MIRT2465594	hsa-miR-328	CLIP-seq
MIRT2465595	hsa-miR-4707-3p	CLIP-seq
MIRT2465596	hsa-miR-4758-3p	CLIP-seq
MIRT2465597	hsa-miR-604	CLIP-seq
MIRT2465598	hsa-miR-658	CLIP-seq
MIRT2465599	hsa-miR-663b	CLIP-seq
MIRT2564059	hsa-miR-1225-3p	CLIP-seq
MIRT2564060	hsa-miR-1233	CLIP-seq
MIRT2465593	hsa-miR-1291	CLIP-seq
MIRT2564061	hsa-miR-3171	CLIP-seq
MIRT2465594	hsa-miR-328	CLIP-seq
MIRT2564062	hsa-miR-3607-5p	CLIP-seq
MIRT2465595	hsa-miR-4707-3p	CLIP-seq
MIRT2465596	hsa-miR-4758-3p	CLIP-seq
MIRT2465597	hsa-miR-604	CLIP-seq
MIRT2465598	hsa-miR-658	CLIP-seq
MIRT2465599	hsa-miR-663b	CLIP-seq
MIRT2564059	hsa-miR-1225-3p	CLIP-seq
MIRT2564060	hsa-miR-1233	CLIP-seq
MIRT2465593	hsa-miR-1291	CLIP-seq
MIRT2564061	hsa-miR-3171	CLIP-seq
MIRT2465594	hsa-miR-328	CLIP-seq
MIRT2564062	hsa-miR-3607-5p	CLIP-seq
MIRT2684284	hsa-miR-3940-3p	CLIP-seq
MIRT2465595	hsa-miR-4707-3p	CLIP-seq
MIRT2465596	hsa-miR-4758-3p	CLIP-seq
MIRT2465597	hsa-miR-604	CLIP-seq
MIRT2465598	hsa-miR-658	CLIP-seq
MIRT2465599	hsa-miR-663b	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	27339457
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IMP	18672106
GO:0019838	Function	Growth factor binding	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030502	Process	Negative regulation of bone mineralization	IEA
GO:0031012	Component	Extracellular matrix	IDA	16157329
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045780	Process	Positive regulation of bone resorption	IEA
GO:0046849	Process	Bone remodeling	IEA
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	IPI	10930463, 18672106
GO:0060349	Process	Bone morphogenesis	IEA
GO:0060430	Process	Lung saccule development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:1902462	Process	Positive regulation of mesenchymal stem cell proliferation	IMP	18672106
GO:2000741	Process	Positive regulation of mesenchymal stem cell differentiation	IMP	18672106

MIM	HGNC	e!Ensembl
602090	6716	ENSG00000168056

Q9NS15

Protein name

Latent-transforming growth factor beta-binding protein 3 (LTBP-3)

Protein function

Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-a

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00683	TB	289 → 327	TB domain	Family
PF07645	EGF_CA	355 → 394	Calcium-binding EGF domain	Domain
PF00683	TB	414 → 458	TB domain	Family
PF12662	cEGF	596 → 619	Complement Clr-like EGF-like	Domain
PF07645	EGF_CA	660 → 701	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	703 → 742	Calcium-binding EGF domain	Domain
PF12662	cEGF	765 → 788	Complement Clr-like EGF-like	Domain
PF12661	hEGF	795 → 815	Human growth factor-like EGF	Domain
PF12662	cEGF	847 → 869	Complement Clr-like EGF-like	Domain
PF12661	hEGF	877 → 898	Human growth factor-like EGF	Domain
PF00683	TB	928 → 974	TB domain	Family
PF07645	EGF_CA	993 → 1034	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1036 → 1075	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1082 → 1121	Calcium-binding EGF domain	Domain
PF00683	TB	1147 → 1189	TB domain	Family
PF07645	EGF_CA	1254 → 1297	Calcium-binding EGF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 2: Expressed prominently in heart, skeletal muscle, prostate, testis, small intestine and ovary (PubMed:12154076). Isoform 1: Strongly expressed in pancreas and liver (PubMed:12154076). {ECO:0000269|PubMed:12154076}.

Sequence

MPGPRGAAGGLAPEMRGAGAAGLLALLLLLLLLLLGLGGRVEGGPAGERGAGGGGALARE
RFKVVFAPVICKRTCLKGQCRDSCQQGSNMTLIGENGHSTDTLTGSGFRVVVCPLPCMNG
GQCSSRNQCLCPPDFTGRFCQVPAGGAGGGTGGSGPGLSRTGALSTGALPPLAPEGDSVA
SKHAIYAVQVIADPPGPGEGPPAQHAAFLVPLGPGQISAEVQAPPPVVNVRVHHPPEASV
QVHRIESSNAESAAPSQHLLPHPKPSHPRPPTQKPLGRCFQDTLPKQPCGSNPLPGLTKQ
EDCCGSIGTAWGQSKCHKCPQLQYTGVQKPGPVRGEVGADCPQGYKRLNSTHCQDINECA
MPGVCRHGDCLNNPGSYRCVCPPGHSLGPSRTQCIADKPEEKSLCFRLVSPEHQCQHPLT
TRLTRQLCCCSVGKAWGARCQRCPTDGTAAFKEICPAGKGYHILTSHQTLTIQGESDFSL
FLHPDGPPKPQQLPESPSQAPPPEDTEEERGVTTDSPVSEERSVQQSHPTATTTPARPYP
ELISRPSPPTMRWFLPDLPPSRSAVEIAPTQVTETDECRLNQNICGHGECVPGPPDYSCH
CNPGYRSHPQHRYCVDVNECEAEPCGPGRGICMNTGGSYNCHCNRGYRLHVGAGGRSCVD
LNECAKPHLCGDGGFCINFPGHYKCNCYPGYRLKASRPPVCEDIDECRDPSSCPDGKCEN
KPGSFKCIACQPGYRSQGGGACRDVNECAEGSPCSPGWCENLPGSFRCTCAQGYAPAPDG
RSCLDVDECEAGDVCDNGICSNTPGSFQCQCLSGYHLSRDRSHCEDIDECDFPAACIGGD
CINTNGSYRCLCPQGHRLVGGRKCQDIDECSQDPSLCLPHGACKNLQGSYVCVCDEGFTP
TQDQHGCEEVEQPHHKKECYLNFDDTVFCDSVLATNVTQQECCCSLGAGWGDHCEIYPCP
VYSSAEFHSLCPDGKGYTQDNNIVNYGIPAHRDIDECMLFGSEICKEGKCVNTQPGYECY
CKQGFYYDGNLLECVDVDECLDESNCRNGVCENTRGGYRCACTPPAEYSPAQRQCLSPEE
MDVDECQDPAACRPGRCVNLPGSYRCECRPPWVPGPSGRDCQLPESPAERAPERRDVCWS
QRGEDGMCAGPLAGPALTFDDCCCRQGRGWGAQCRPCPPRGAGSHCPTSQSESNSFWDTS
PLLLGKPPRDEDSSEEDSDECRCVSGRCVPRPGGAVCECPGGFQLDASRARCVDIDECRE
LNQRGLLCKSERCVNTSGSFRCVCKAGFARSRPHGACVPQRRR

Sequence length

1303

Interactions

View interactions

	Reactome
			Molecules associated with elastic fibres

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amelogenesis imperfecta	Likely pathogenic	rs2496112558	RCV002282705	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachyolmia-amelogenesis imperfecta syndrome	Likely pathogenic; Pathogenic	rs2135125210, rs2135143557, rs2135143551, rs1347418307, rs2135157363, rs767708438, rs1275684003, rs766900840, rs2135155640, rs2135120937, rs2135159627, rs1363345814, rs2135130818, rs757974017, rs2496138515 View all (39 more)	RCV001378750 RCV001789734 RCV002038946 RCV001943259 RCV001937049 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Likely pathogenic	rs766900840	RCV005926457	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Geleophysic dysplasia 1	Likely pathogenic; Pathogenic	rs1265250025	RCV006266891	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Geleophysic dysplasia 3	Likely pathogenic; Pathogenic	rs2135125210, rs2135141843, rs1554971742, rs1188540819	RCV001824960 RCV001789733 RCV000519031 RCV000520920	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heritable Thoracic Aortic Disease	Pathogenic	rs1286042594, rs1554973844	RCV001291427 RCV001291428	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LTBP3-related disorder	Likely pathogenic; Pathogenic	rs1463397648, rs2496175522, rs2496117212	RCV003404114 RCV003397718 RCV003983374	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (33)

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.
ACROMICRIC DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANODONTIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYOLMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SCOLIOSIS DUE TO BONY MALFORMATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL ABSENCE OF TOOTH	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Geleophysic dysplasia	Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS OF HIP	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS, SELECTIVE, 6	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERLOES BOURGUIGNON SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (224)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acromicric Dysplasia	Acromicric Dysplasia	BEFREE	27068007, 30887145		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acromicric Dysplasia	Acromicric Dysplasia	ORPHANET_DG	27068007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acromicric dysplasia	Acromicric Dysplasia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acromicric dysplasia	Acromesomelic dysplasia	Pubtator	33082559	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	21460841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	25669657, 28084688		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	CTD_human_DG	25669657		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG	28084688		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	34573388	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	25313366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	35352826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	35352826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	34573388, 35352826	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28669978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	39870121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28069152, 28723909, 28836917, 30266270, 30808333, 30824257, 30882244, 30995780, 31390762, 31533766, 31539386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28069152, 28723909, 28836917, 30266270, 30808333, 30824257, 30882244, 30995780, 31390762, 31533766, 31539386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Thoracic	Aortic Aneurysm	BEFREE	29625025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic Diseases	BEFREE	29625025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	34906192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	34573388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17594488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	38222456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27911796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	31574831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	25745062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	CTD_human_DG	19344874		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachyolmia	Brachyolmia	BEFREE	25669657		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachyolmia	Brachyolmia	CTD_human_DG	25669657		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachyolmia	Brachyolmia	Pubtator	35352826	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachyolmia-amelogenesis imperfecta syndrome	Brachyolmia-Amelogenesis Imperfecta Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	BEFREE	28316571, 31369188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21527583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30956730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29348457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31574831	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	28669978	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	34573388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	31512380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31512380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	38222456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract zonular	Congenital cataract	Pubtator	21081970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28316571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28316571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28316571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23832580, 30956730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28058013, 30956730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital glaucoma	Congenital glaucoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	BEFREE	20179738, 30565850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22515403, 29950403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	11790802, 12379497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29238177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	18548532, 28069152, 28148234, 28714789, 28723909, 28836917, 29224000, 29331974, 29709718, 30111386, 30570386, 30596467, 30618931, 30808333, 30936845 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	CTD_human_DG	19344874, 25899461		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of eye	Disorder Of Eye	BEFREE	24908666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissecting aortic aneurysm	Dissecting Aortic Aneurysm	BEFREE	29625025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	BEFREE	20141359, 22025892, 22924778, 30565850, 30600741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia lentis	Pubtator	22025892, 38190127, 38222456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopia lentis isolated	Ectopia Lentis Isolated	BEFREE	22539340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29414549, 31574428, 31771384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	40591616	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	23401661, 24521159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	11870232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Geleophysic dysplasia	Geleophysic Dysplasia	BEFREE	27068007		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Geleophysic dysplasia	Geleophysic Dysplasia	ORPHANET_DG	27068007		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Geleophysic dysplasia	Geleophysic Dysplasia	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GELEOPHYSIC DYSPLASIA 3	Geleophysic dysplasia	GENOMICS_ENGLAND_DG	27068007		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GELEOPHYSIC DYSPLASIA 3	Geleophysic dysplasia	UNIPROT_DG	27068007		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GELEOPHYSIC DYSPLASIA 3	Geleophysic dysplasia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glaucoma	Glaucoma	CTD_human_DG	19361779, 27149523		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	Pubtator	20179738, 21081970, 22025892, 23401661, 27409795, 35144644, 38222456	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	BEFREE	21081970, 21730848, 23401661, 24521159, 24908666, 29845210, 29908281, 30380740		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	19361779, 21081970, 22025892, 22128238, 23218701, 23378721, 23401661, 27293371, 27409795, 30820150, 32165823, 35094026, 36241656, 39337513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma 3, Primary Congenital, D	Glaucoma	GENOMICS_ENGLAND_DG	19361779, 19656777, 20179738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma 3, Primary Congenital, D	Glaucoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma 3, Primary Congenital, D	Glaucoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
GLAUCOMA 3, PRIMARY INFANTILE, B	Glaucoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	39317460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	23401661, 37032519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Glaucoma Secondary To Spherophakia/Ectopia Lentis And Megalocornea	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	30380740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	23401661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	29620158	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	34906192, 35352826	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31169235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss, High-Frequency	Hearing Loss	BEFREE	29563040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33098376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	31512380, 31823657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22515403, 29950403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	39563337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	35352826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	ORPHANET_DG	19361779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	BEFREE	22025892, 24908666, 27409795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Hydrophthalmos	Pubtator	22025892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	38631604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	19344874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	CTD_human_DG	19344874, 25899461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30006483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28469957, 31574831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	39617181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17469140	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27281608, 29620158	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30718901		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31169235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	21106222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28316571, 31369188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29620158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28069152, 28669978, 28836917, 29348457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28316571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28316571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	20179738, 21081970	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan Syndrome	Marfan Syndrome	BEFREE	22539340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan Syndrome	Marfan Syndrome	GENOMICS_ENGLAND_DG	22539340		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan Syndrome	Marfan Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	12716902		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12716902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	22964784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	18548532, 28069152, 28148234, 28714789, 28723909, 28836917, 29224000, 29331974, 29709718, 30111386, 30570386, 30596467, 30618931, 30808333, 30995780 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28948699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21106222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microspherophakia	Microspherophakia	BEFREE	20617341, 24908666, 29751740, 30565850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microspherophakia	Microspherophakia	Pubtator	29751740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microspherophakia	Microspherophakia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microspherophakia	Microspherophakia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA	GENOMICS_ENGLAND_DG	19361779		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	CTD_human_DG	25899461		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	26342886, 27208206, 27384055, 27455437, 27602992, 27774593, 27775955, 27792241, 27890777, 28069152, 28109264, 28148234, 28171742, 28213829, 28333185 View all (75 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	31121535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25187517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25187517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	BEFREE	31169235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494, 38222456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22743615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25974126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20878956, 21106222, 22743615, 29348457, 31574831		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30669552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30669552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	28686949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	19344874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	32826876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32452514	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Hip	Osteoarthritis	Pubtator	32452514	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	CTD_human_DG	30374069		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30374069, 30664745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	11790802, 12379497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	30887145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30924175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	CTD_human_DG	11790802, 12379497		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28669978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28669978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28669978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	36671424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	33098376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28948699, 29867419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	BEFREE	19361779, 19656777, 22128238, 22924778, 23378721, 23401661, 24521159, 27293371, 27409795, 28384041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	GENOMICS_ENGLAND_DG	19656777, 20179738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28252045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	37862918, 40591616	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe depression	Mental Depression	BEFREE	30808333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	30887145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27936819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal stenosis of lumbar region	Spinal Stenosis Of Lumbar Region	BEFREE	30825230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29348457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20878956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27281608	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32826876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29620158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29620158, 34983559, 35968244, 38631604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	30478918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	27712597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tooth Agenesis Selective 6	Tooth agenesis	Pubtator	35352826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tooth Agenesis, Familial	Tooth Agenesis	CTD_human_DG	19344874, 25899461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tooth Agenesis, Selective, 6	Tooth Agenesis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	38158702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	11870232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Verloes Bourguignon syndrome	Dental anomalies and short stature	GENOMICS_ENGLAND_DG	25669657, 28084688		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Verloes Bourguignon syndrome	Dental anomalies and short stature	ORPHANET_DG	25669657		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Verloes Bourguignon syndrome	Dental anomalies and short stature	BEFREE	30887145		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Verloes Bourguignon syndrome	Dental anomalies and short stature	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani syndrome	Weill-Marchesani Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Weill-Marchesani syndrome	Weill-Marchesani Syndrome	BEFREE	22539340, 30380740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Weill-Marchesani syndrome	Weill-Marchesani Syndrome	ORPHANET_DG	22539340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Weill-Marchesani syndrome	Weill-Marchesani Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
WEILL-MARCHESANI SYNDROME 1	Weill-Marchesani Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
WEILL-MARCHESANI SYNDROME 3	Weill-Marchesani Syndrome	UNIPROT_DG	22539340		★★★★★ ★☆☆☆☆ Found in Text Mining only
WEILL-MARCHESANI SYNDROME 3	Weill-Marchesani Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Weill-Marchesani Syndrome, Autosomal Dominant	Weill-Marchesani Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Weill-Marchesani Syndrome, Autosomal Recessive	Weill-Marchesani Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Weill-Marchesani-Like Syndrome	Weill-Marchesani Syndrome	BEFREE	22539340, 30380740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	22539340		★★★★★ ★☆☆☆☆ Found in Text Mining only

LTBP3 (latent transforming growth factor beta binding protein 3)