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	7092
Gene name	Tolloid like 1
Gene symbol	TLL1
Synonyms (NCBI Gene)	ASD6TLL
Chromosome	4
Chromosome location	4q32.3
Summary	This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene pl

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852951	A>C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137852952	T>C	Pathogenic	Missense variant, coding sequence variant
rs137852953	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1579663872	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant

170

Show/Hide all (170)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017300	hsa-miR-335-5p	Microarray	18185580
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT636163	hsa-miR-4773	HITS-CLIP	23824327
MIRT636162	hsa-miR-589-5p	HITS-CLIP	23824327
MIRT636161	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT636160	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT636159	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT448446	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT448445	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT448444	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT448443	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT448442	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT448441	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT448440	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT448439	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT448438	hsa-miR-646	PAR-CLIP	22100165
MIRT448437	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT448436	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT448435	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT448446	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT448445	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT448444	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT448443	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT448442	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT448441	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT448440	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT448439	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT448438	hsa-miR-646	PAR-CLIP	22100165
MIRT448437	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT448436	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT448435	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT636163	hsa-miR-4773	HITS-CLIP	23824327
MIRT636162	hsa-miR-589-5p	HITS-CLIP	23824327
MIRT636161	hsa-miR-146a-5p	HITS-CLIP	23824327
MIRT636160	hsa-miR-146b-5p	HITS-CLIP	23824327
MIRT636159	hsa-miR-7153-5p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT616133	hsa-miR-3924	HITS-CLIP	23824327
MIRT616132	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT616131	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT448446	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT448445	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT448444	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT448443	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT448442	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT448441	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT448440	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT448439	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT448438	hsa-miR-646	PAR-CLIP	22100165
MIRT448437	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT448436	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT448435	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT448446	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT448445	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT448444	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT448443	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT448442	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT448441	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT448440	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT448439	hsa-miR-503-5p	PAR-CLIP	22100165
MIRT448438	hsa-miR-646	PAR-CLIP	22100165
MIRT448437	hsa-miR-4524a-5p	PAR-CLIP	22100165
MIRT448436	hsa-miR-4524b-5p	PAR-CLIP	22100165
MIRT448435	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT1426599	hsa-miR-1258	CLIP-seq
MIRT1426600	hsa-miR-1271	CLIP-seq
MIRT1426601	hsa-miR-1305	CLIP-seq
MIRT1426602	hsa-miR-142-5p	CLIP-seq
MIRT1426603	hsa-miR-182	CLIP-seq
MIRT1426604	hsa-miR-221	CLIP-seq
MIRT1426605	hsa-miR-222	CLIP-seq
MIRT1426606	hsa-miR-3117-3p	CLIP-seq
MIRT1426607	hsa-miR-3149	CLIP-seq
MIRT1426608	hsa-miR-3163	CLIP-seq
MIRT1426609	hsa-miR-3169	CLIP-seq
MIRT1426610	hsa-miR-340	CLIP-seq
MIRT1426611	hsa-miR-3688-3p	CLIP-seq
MIRT1426612	hsa-miR-375	CLIP-seq
MIRT1426613	hsa-miR-3977	CLIP-seq
MIRT1426614	hsa-miR-4269	CLIP-seq
MIRT1426615	hsa-miR-4422	CLIP-seq
MIRT1426616	hsa-miR-4470	CLIP-seq
MIRT1426617	hsa-miR-4514	CLIP-seq
MIRT1426618	hsa-miR-4692	CLIP-seq
MIRT1426619	hsa-miR-4704-3p	CLIP-seq
MIRT1426620	hsa-miR-4742-5p	CLIP-seq
MIRT1426621	hsa-miR-4759	CLIP-seq
MIRT1426622	hsa-miR-490-5p	CLIP-seq
MIRT1426623	hsa-miR-568	CLIP-seq
MIRT1426624	hsa-miR-889	CLIP-seq
MIRT1426625	hsa-miR-96	CLIP-seq
MIRT1557194	hsa-miR-15a	CLIP-seq
MIRT1557195	hsa-miR-15b	CLIP-seq
MIRT1557196	hsa-miR-16	CLIP-seq
MIRT1557197	hsa-miR-195	CLIP-seq
MIRT1557198	hsa-miR-424	CLIP-seq
MIRT1557199	hsa-miR-497	CLIP-seq
MIRT2127821	hsa-miR-105	CLIP-seq
MIRT1557194	hsa-miR-15a	CLIP-seq
MIRT1557195	hsa-miR-15b	CLIP-seq
MIRT1557196	hsa-miR-16	CLIP-seq
MIRT1557197	hsa-miR-195	CLIP-seq
MIRT2127822	hsa-miR-3671	CLIP-seq
MIRT1426611	hsa-miR-3688-3p	CLIP-seq
MIRT1426613	hsa-miR-3977	CLIP-seq
MIRT1557198	hsa-miR-424	CLIP-seq
MIRT1426619	hsa-miR-4704-3p	CLIP-seq
MIRT1426622	hsa-miR-490-5p	CLIP-seq
MIRT1557199	hsa-miR-497	CLIP-seq
MIRT2127823	hsa-miR-607	CLIP-seq
MIRT2127824	hsa-miR-634	CLIP-seq
MIRT1426600	hsa-miR-1271	CLIP-seq
MIRT1426602	hsa-miR-142-5p	CLIP-seq
MIRT1426603	hsa-miR-182	CLIP-seq
MIRT2349516	hsa-miR-2467-3p	CLIP-seq
MIRT1426610	hsa-miR-340	CLIP-seq
MIRT1426611	hsa-miR-3688-3p	CLIP-seq
MIRT1426613	hsa-miR-3977	CLIP-seq
MIRT1426616	hsa-miR-4470	CLIP-seq
MIRT2349517	hsa-miR-4703-3p	CLIP-seq
MIRT1426619	hsa-miR-4704-3p	CLIP-seq
MIRT1426622	hsa-miR-490-5p	CLIP-seq
MIRT2349518	hsa-miR-5096	CLIP-seq
MIRT1426625	hsa-miR-96	CLIP-seq
MIRT2461496	hsa-miR-411	CLIP-seq
MIRT2461497	hsa-miR-548n	CLIP-seq
MIRT2461498	hsa-miR-548t	CLIP-seq
MIRT2466232	hsa-miR-2682	CLIP-seq
MIRT2461496	hsa-miR-411	CLIP-seq
MIRT2466233	hsa-miR-449c	CLIP-seq
MIRT2461497	hsa-miR-548n	CLIP-seq
MIRT2461498	hsa-miR-548t	CLIP-seq
MIRT2466234	hsa-miR-940	CLIP-seq
MIRT2642984	hsa-miR-3920	CLIP-seq
MIRT2642985	hsa-miR-4662a-3p	CLIP-seq
MIRT2642986	hsa-miR-4762-3p	CLIP-seq
MIRT2642984	hsa-miR-3920	CLIP-seq
MIRT2642985	hsa-miR-4662a-3p	CLIP-seq
MIRT2642986	hsa-miR-4762-3p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	8661043
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	TAS
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
606742	11843	ENSG00000038295

O43897

Protein name

Tolloid-like protein 1 (EC 3.4.24.-)

Protein function

Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogene

PDB

3EDI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01400	Astacin	155 → 348	Astacin (Peptidase family M12A)	Domain
PF00431	CUB	349 → 458	CUB domain	Domain
PF00431	CUB	462 → 571	CUB domain	Domain
PF14670	FXa_inhibition	578 → 614		Domain
PF00431	CUB	618 → 727	CUB domain	Domain
PF07645	EGF_CA	730 → 774	Calcium-binding EGF domain	Domain
PF00431	CUB	774 → 883	CUB domain	Domain
PF00431	CUB	887 → 1000	CUB domain	Domain

Sequence

MGLGTLSPRMLVWLVASGIVFYGELWVCAGLDYDYTFDGNEEDKTETIDYKDPCKAAVFW
GDIALDDEDLNIFQIDRTIDLTQNPFGNLGHTTGGLGDHAMSKKRGALYQLIDRIRRIGF
GLEQNNTVKGKVPLQFSGQNEKNRVPRAATSRTERIWPGGVIPYVIGGNFTGSQRAMFKQ
AMRHWEKHTCVTFIERSDEESYIVFTYRPCGCCSYVGRRGNGPQAISIGKNCDKFGIVVH
ELGHVIGFWHEHTRPDRDNHVTIIRENIQPGQEYNFLKMEPGEVNSLGERYDFDSIMHYA
RNTFSRGMFLDTILPSRDDNGIRPAIGQRTRLSKGDIAQARKLYRCPACGETLQESNGNL
SSPGFPNGYPSYTHCIWRVSVTPGEKIVLNFTTMDLYKSSLCWYDYIEVRDGYWRKSPLL
GRFCGDKLPEVLTSTDSRMWIEFRSSSNWVGKGFAAVYEAICGGEIRKNEGQIQSPNYPD
DYRPMKECVWKITVSESYHVGLTFQSFEIERHDNCAYDYLEVRDGTSENSPLIGRFCGYD
KPEDIRSTSNTLWMKFVSDGTVNKAGFAANFFKEEDECAKPDRGGCEQRCLNTLGSYQCA
CEPGYELGPDRRSCEAACGGLLTKLNGTITTPGWPKEYPPNKNCVWQVVAPTQYRISVKF
EFFELEGNEVCKYDYVEIWSGLSSESKLHGKFCGAEVPEVITSQFNNMRIEFKSDNTVSK
KGFKAHFFSDKDECSKDNGGCQHECVNTMGSYMCQCRNGFVLHDNKHDCKEAECEQKIHS
PSGLITSPNWPDKYPSRKECTWEISATPGHRIKLAFSEFEIEQHQECAYDHLEVFDGETE
KSPILGRLCGNKIPDPLVATGNKMFVRFVSDASVQRKGFQATHSTECGGRLKAESKPRDL
YSHAQFGDNNYPGQVDCEWLLVSERGSRLELSFQTFEVEEEADCGYDYVELFDGLDSTAV
GLGRFCGSGPPEEIYSIGDSVLIHFHTDDTINKKGFHIRYKSIRYPDTTHTKK

Sequence length

1013

Interactions

View interactions

	Reactome
			Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation Crosslinking of collagen fibrils

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial septal defect 6	Pathogenic	rs137852951, rs137852953	RCV000004289 RCV000004291	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT, OSTIUM PRIMUM TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TLL1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (40)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	18830233, 31570783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defect 6	Atrial Septal Defect	GENOMICS_ENGLAND_DG	18830233		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect 6	Atrial Septal Defect	UNIPROT_DG	18830233		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect 6	Atrial Septal Defect	BEFREE	30538173		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect 6	Atrial Septal Defect	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect 6	Atrial Septal Defect	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial septal defect, ostium primum type	Atrial Septal Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial septal defect, ostium secundum type	Atrial Septal Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	BEFREE	16369476, 18830233, 27418595, 31570783		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18830233, 31570783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30311349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33347699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30912093, 31177595, 33347699, 37981236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	32638511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	23869231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21911782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21911782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21911782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21911782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	22302627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22302627, 27418595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	31570783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	18830233, 27418595, 31570783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	22302627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	30912093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	26420894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28163062, 28744823, 30382363, 31177595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	GWASCAT_DG	28163062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37981236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28744823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	24419319, 28068493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	ORPHANET_DG	18830233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32186777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28068493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	23726511		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-Traumatic Stress Disorder	Stress Disorder	GWASCAT_DG	23726511		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-Traumatic Stress Disorder	Stress Disorder	GWASDB_DG	23726511		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	30305682, 30382363		★★★★★ ★☆☆☆☆ Found in Text Mining only

TLL1 (tolloid like 1)