LTBP4 (latent transforming growth factor beta binding protein 4)

Gene

• Entrez ID: 8425
• Gene name: Latent transforming growth factor beta binding protein 4
• Gene symbol: LTBP4
• Synonyms (NCBI Gene): ARCL1C, LTBP-4, LTBP4L, LTBP4S
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other pro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199678003	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199887429	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200036888	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200338042	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267607228	C>A	Pathogenic	Coding sequence variant, stop gained
rs267607229	T>G	Pathogenic	Missense variant, coding sequence variant
rs397515430	C>T	Pathogenic	Stop gained, coding sequence variant
rs606231159	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231160	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231161	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs747013505	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, upstream transcript variant, coding sequence variant
rs797044471	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1382026467	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1555744253	T>G	Pathogenic	Coding sequence variant, stop gained
rs1568406407	C>T	Pathogenic	Coding sequence variant, stop gained
rs1599879104	->T	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017571	hsa-miR-335-5p	Microarray	18185580
MIRT440306	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440306	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1122176	hsa-miR-3163	CLIP-seq
MIRT1122177	hsa-miR-340	CLIP-seq
MIRT1122178	hsa-miR-3616-3p	CLIP-seq
MIRT1122179	hsa-miR-3647-3p	CLIP-seq
MIRT1122180	hsa-miR-4282	CLIP-seq
MIRT1122181	hsa-miR-4761-3p	CLIP-seq
MIRT1122182	hsa-miR-590-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F4	Unknown	23741501
GATA1	Unknown	23741501
SMAD3	Unknown	23741501
SP1	Unknown	23741501

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IEA
GO:0001527	Component	Microfibril	ISS
GO:0001558	Process	Regulation of cell growth	TAS	9660815
GO:0005024	Function	Transforming growth factor beta receptor activity	NAS	9660815
GO:0005178	Function	Integrin binding	NAS	9660815
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 27559042, 28675934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	NAS	9660815
GO:0005509	Function	Calcium ion binding	TAS	9271198
GO:0005515	Function	Protein binding	IPI	12429738, 19349279, 21078624, 27339457
GO:0005539	Function	Glycosaminoglycan binding	NAS	9660815
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0006457	Process	Protein folding	TAS	9660815
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	TAS	9660815
GO:0019838	Function	Growth factor binding	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	IDA	9660815, 16157329
GO:0031012	Component	Extracellular matrix	IEA
GO:0046879	Process	Hormone secretion	IEA
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0050431	Function	Transforming growth factor beta binding	IBA
GO:0050431	Function	Transforming growth factor beta binding	IDA	9660815
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	IPI	10930463

Other IDs

• MIM: 604710
• HGNC: 6717
• e!Ensembl: ENSG00000090006

Protein

• UniProt ID: Q8N2S1
• Protein name: Latent-transforming growth factor beta-binding protein 4 (LTBP-4)
• 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
  PF07645	EGF_CA	357 → 396	Calcium-binding EGF domain	Domain
  PF00683	TB	417 → 462	TB domain	Family
  PF12661	hEGF	556 → 576	Human growth factor-like EGF	Domain
  PF07645	EGF_CA	587 → 627	Calcium-binding EGF domain	Domain
  PF12662	cEGF	651 → 674	Complement Clr-like EGF-like	Domain
  PF12661	hEGF	682 → 702	Human growth factor-like EGF	Domain
  PF07645	EGF_CA	710 → 750	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	752 → 792	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	834 → 876	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	878 → 918	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	920 → 959	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	961 → 1003	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1005 → 1047	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1049 → 1089	Calcium-binding EGF domain	Domain
  PF00683	TB	1192 → 1238	TB domain	Family
  PF07645	EGF_CA	1253 → 1294	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1296 → 1336	Calcium-binding EGF domain	Domain
  PF00683	TB	1360 → 1404	TB domain	Family
  PF07645	EGF_CA	1574 → 1617	Calcium-binding EGF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung. {ECO:0000269|PubMed:9271198, ECO:0000269|PubMed:9660815}.
• Sequence:

  MPRPGTSGRRPLLLVLLLPLFAAATSAASPSPSPSQVVEVPGVPSRPASVAVCRCCPGQT
  SRRSRCIRAFCRVRSCQPKKCAGPQRCLNPVPAVPSPSPSVRKRQVSLNWQPLTLQEARA
  LLKRRRPRGPGGRGLLRRRPPQRAPAGKAPVLCPLICHNGGVCVKPDRCLCPPDFAGKFC
  QLHSSGARPPAPAVPGLTRSVYTMPLANHRDDEHGVASMVSVHVEHPQEASVVVHQVERV
  SGPWEEADAEAVARAEAAARAEAAAPYTVLAQSAPREDGYSDASGFGYCFRELRGGECAS
  PLPGLRTQEVCCRGAGLAWGVHDCQLCSERLGNSERVSAPDGPCPTGFERVNGSCEDVDE
  CATGGRCQHGECANTRGGYTCVCPDGFLLDSSRSSCISQHVISEAKGPCFRVLRDGGCSL
  PILRNITKQICCCSRVGKAWGRGCQLCPPFGSEGFREICPAGPGYHYSASDLRYNTRPLG
  QEPPRVSLSQPRTLPATSRPSAGFLPTHRLEPRPEPRPDPRPGPELPLPSIPAWTGPEIP
  ESGPSSGMCQRNPQVCGPGRCISRPSGYTCACDSGFRLSPQGTRCIDVDECRRVPPPCAP
  GRCENSPGSFRCVCGPGFRAGPRAAECLDVDECHRVPPPCDLGRCENTPGSFLCVCPAGY
  QAAPHGASCQDVDECTQSPGLCGRGACKNLPGSFRCVCPAGFRGSACEEDVDECAQEPPP
  CGPGRCDNTAGSFHCACPAGFRSRGPGAPCQDVDECARSPPPCTYGRCENTEGSFQCVCP
  MGFQPNTAGSECEDVDECENHLACPGQECVNSPGSFQCRTCPSGHHLHRGRCTDVDECSS
  GAPPCGPHGHCTNTEGSFRCSCAPGYRAPSGRPGPCADVNECLEGDFCFPHGECLNTDGS
  FACTCAPGYRPGPRGASCLDVDECSEEDLCQSGICTNTDGSFECICPPGHRAGPDLASCL
  DVDECRERGPALCGSQRCENSPGSYRCVRDCDPGYHAGPEGTCDDVDECQEYGPEICGAQ
  RCENTPGSYRCTPACDPGYQPTPGGGCQDVDECRNRSFCGAHAVCQNLPGSFQCLCDQGY
  EGARDGRHCVDVNECETLQGVCGAALCENVEGSFLCVCPNSPEEFDPMTGRCVPPRTSAG
  TFPGSQPQAPASPVLPARPPPPPLPRRPSTPRQGPVGSGRRECYFDTAAPDACDNILARN
  VTWQECCCTVGEGWGSGCRIQQCPGTETAEYQSLCPHGRGYLAPSGDLSLRRDVDECQLF
  RDQVCKSGVCVNTAPGYSCYCSNGYYYHTQRLECIDNDECADEEPACEGGRCVNTVGSYH
  CTCEPPLVLDGSQRRCVSNESQSLDDNLGVCWQEVGADLVCSHPRLDRQATYTECCCLYG
  EAWGMDCALCPAQDSDDFEALCNVLRPPAYSPPRPGGFGLPYEYGPDLGPPYQGLPYGPE
  LYPPPALPYDPYPPPPGPFARREAPYGAPRFDMPDFEDDGGPYGESEAPAPPGPGTRWPY
  RSRDTRRSFPEPEEPPEGGSYAGSLAEPYEELEAEECGILDGCTNGRCVRVPEGFTCRCF
  DGYRLDMTRMACVDINECDEAEAASPLCVNARCLNTDGSFRCICRPGFAPTHQPHHCAPA
  RPRA

• Sequence length: 1624

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
Cutis laxa	Likely pathogenic	rs1568404922	RCV002470046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Likely pathogenic; Pathogenic	rs970983655, rs781735457, rs2146020978, rs2146029786, rs747013505, rs606231159, rs606231160, rs267607228, rs267607229, rs606231161, rs2081592972, rs2081454038, rs1475578735, rs397515430, rs797044471, rs1382026467, rs1568406407, rs1599879104, rs1307726290	RCV001332723 RCV001783619 RCV001782409 RCV001808882 RCV000169666 RCV000005726 RCV000005727 RCV000005728 RCV000005729 RCV000005730 RCV003225799 RCV003221330 RCV004006206 RCV000033129 RCV000033130 RCV000033131 RCV000779629 RCV000985144 RCV001257133	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LTBP4-related disorder	Likely pathogenic; Pathogenic	rs970983655, rs2146028500, rs1286740150	RCV004746327 RCV003421102 RCV003893318	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa Syndrome	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUCHENNE MUSCULAR DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	17550376, 21468687, 23741501		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	25313366	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	38293922	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	18487557, 19897194		★☆☆☆☆ Found in Text Mining only
Aortic Stenosis Supravalvular	Aortic stenosis	Pubtator	38293922	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	27298013		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	27298013, 38293922	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	28263294		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21505857		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21527583	Associate	★☆☆☆☆ Found in Text Mining only
Bronchomalacia	Bronchomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21468687		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23741501	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	26513582, 26918958	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	26918958		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26513582		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	16456143		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12208849, 19998449		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20459617	Associate	★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis laxa	Pubtator	19836010	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa	Cutis Laxa	GENOMICS_ENGLAND_DG	22829427		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Cutis Laxa With Pulmonary, Gastrointestinal And Urinary Anomalies	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities	Cutis Laxa With Pulmonary, Gastrointestinal And Urinary Anomalies	ORPHANET_DG	19836010, 22829427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities	Cutis Laxa With Pulmonary, Gastrointestinal And Urinary Anomalies	CLINVAR_DG	19836010, 22829427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities	Cutis Laxa With Pulmonary, Gastrointestinal And Urinary Anomalies	UNIPROT_DG	19836010		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities	Cutis Laxa With Pulmonary, Gastrointestinal And Urinary Anomalies	GENOMICS_ENGLAND_DG	25882708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities	Cutis Laxa With Pulmonary, Gastrointestinal And Urinary Anomalies	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis laxa, recessive	Cutis Laxa	BEFREE	31115174		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36524797	Associate	★☆☆☆☆ Found in Text Mining only
Duchenne muscular dystrophy	Duchenne Muscular Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23741501		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	23741501		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	23741501	Associate	★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	19836010	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	27270107		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27270107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	27270107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	27270107	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	27270107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	27270107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	Pubtator	19836010	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	22829427	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	18487557		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Localized scleroderma	Scleroderma	BEFREE	28263294		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	30014611	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24498427, 26635082	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21505857		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	23741501		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	BEFREE	17550376		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21468687, 21505857		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	9271198		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	20101091, 27148972, 29065150, 29481844		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	23440719, 25476005, 25641372, 26513582, 27745838, 30014611, 32343055, 34516828, 35897138, 36011296, 36524797	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	23440719, 25476005, 25641372, 26513582, 27148972, 27745838, 29065150, 29481844, 30014611, 30463013		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	ORPHANET_DG	23440719		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	24213858, 27148972		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17550376, 19998449, 21468687		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	16456143, 24498427	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	27645114, 28252045, 31115174		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19056849, 28263294		★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	36524797	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	28263294		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ 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	23741501		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28263294		★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	38293922	Associate	★☆☆☆☆ Found in Text Mining only