TREX1 (three prime repair exonuclease 1)

Gene

• Entrez ID: 11277
• Gene name: Three prime repair exonuclease 1
• Gene symbol: TREX1
• Synonyms (NCBI Gene): AGS1, CRV, DRN3, HERNS, RVCLS
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: This gene encodes a nuclear protein with 3` exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002251	Process	Organ or tissue specific immune response	IEA
GO:0002253	Process	Activation of immune response	IEA
GO:0002281	Process	Macrophage activation involved in immune response	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IEA
GO:0002383	Process	Immune response in brain or nervous system	IEA
GO:0002437	Process	Inflammatory response to antigenic stimulus	IEA
GO:0002457	Process	T cell antigen processing and presentation	IEA
GO:0002637	Process	Regulation of immunoglobulin production	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003015	Process	Heart process	IEA
GO:0003228	Process	Atrial cardiac muscle tissue development	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	TAS	10391904
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0004529	Function	DNA exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	16818237, 25416956, 25910212, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	NAS	10391904
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	33476576
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	IEA
GO:0006110	Process	Regulation of glycolytic process	IEA
GO:0006259	Process	DNA metabolic process	IEA
GO:0006259	Process	DNA metabolic process	ISS
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	NAS	10391904
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	10393201
GO:0006298	Process	Mismatch repair	NAS	10391904
GO:0006304	Process	DNA modification	IEA
GO:0006308	Process	DNA catabolic process	IBA
GO:0006308	Process	DNA catabolic process	IEA
GO:0006310	Process	DNA recombination	NAS	10391904
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008250	Component	Oligosaccharyltransferase complex	IEA
GO:0008296	Function	3'-5'-DNA exonuclease activity	IBA
GO:0008296	Function	3'-5'-DNA exonuclease activity	IDA	16818237, 33476576
GO:0008296	Function	3'-5'-DNA exonuclease activity	IEA
GO:0008296	Function	3'-5'-DNA exonuclease activity	ISS
GO:0008296	Function	3'-5'-DNA exonuclease activity	TAS	10393201
GO:0008301	Function	DNA binding, bending	IEA
GO:0008311	Function	Double-stranded DNA 3'-5' DNA exonuclease activity	IDA	33476576
GO:0008311	Function	Double-stranded DNA 3'-5' DNA exonuclease activity	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008408	Function	3'-5' exonuclease activity	IDA	10391904
GO:0008408	Function	3'-5' exonuclease activity	IEA
GO:0009411	Process	Response to UV	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019217	Process	Regulation of fatty acid metabolic process	IEA
GO:0019222	Process	Regulation of metabolic process	IEA
GO:0031571	Process	Mitotic G1 DNA damage checkpoint signaling	IEA
GO:0032197	Process	Retrotransposition	IEA
GO:0032405	Function	MutLalpha complex binding	IDA
GO:0032407	Function	MutSalpha complex binding	IDA
GO:0032479	Process	Regulation of type I interferon production	IEA
GO:0032558	Function	Adenyl deoxyribonucleotide binding	IEA
GO:0032680	Process	Regulation of tumor necrosis factor production	IEA
GO:0032993	Component	Protein-DNA complex	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034614	Process	Cellular response to reactive oxygen species	IEA
GO:0034644	Process	Cellular response to UV	IEA
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043277	Process	Apoptotic cell clearance	IEA
GO:0043457	Process	Regulation of cellular respiration	IEA
GO:0043596	Component	Nuclear replication fork	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045088	Process	Regulation of innate immune response	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045824	Process	Negative regulation of innate immune response	IDA	33476576
GO:0046872	Function	Metal ion binding	IEA
GO:0046872	Function	Metal ion binding	NAS	10391904
GO:0046890	Process	Regulation of lipid biosynthetic process	IEA
GO:0050699	Function	WW domain binding	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0050863	Process	Regulation of T cell activation	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0060337	Process	Type I interferon-mediated signaling pathway	IEA
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IEA
GO:0061635	Process	Regulation of protein complex stability	IEA
GO:0071357	Process	Cellular response to type I interferon	IEA
GO:0071480	Process	Cellular response to gamma radiation	IEA
GO:0072711	Process	Cellular response to hydroxyurea	IEA
GO:0097281	Process	Immune complex formation	IEA
GO:0140896	Process	CGAS/STING signaling pathway	IDA	32911482, 32912999
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IDA	33476576
GO:1904161	Process	DNA synthesis involved in UV-damage excision repair	IEA
GO:1905671	Process	Regulation of lysosome organization	IEA

Other IDs

• MIM: 606609
• HGNC: 12269
• e!Ensembl: ENSG00000213689

Protein

• UniProt ID: Q9NSU2
• Protein name: Three-prime repair exonuclease 1 (EC 3.1.11.2) (3'-5' exonuclease TREX1) (Deoxyribonuclease III) (DNase III)
• Protein function: Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini (PubMed:10391904, PubMed:10393201, PubMed:17293595). Prevents cell-intrinsic initiation of autoimmunity
• PDB: 7TQN, 7TQO, 7TQP, 7TQQ, 8VL7, 9AVA
• Tissue specificity: TISSUE SPECIFICITY: Detected in thymus, spleen, liver, brain, heart, small intestine and colon. {ECO:0000269|PubMed:10393201, ECO:0000269|PubMed:11278605}.
• Sequence:

  MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPP
  PRVVDKLSLCVAPGKACSPAASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWC
  LVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALKALERASSPSEHGPRKSYSLG
  SIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASAR
  TKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLA
  VATLYGLSLATPGE

• Sequence length: 314

Pathways

KEGG:

Cytosolic DNA-sensing pathway

Reactome:

Regulation by TREX1
IRF3-mediated induction of type I IFN

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
Aicardi Goutieres syndrome	Likely pathogenic; Pathogenic	rs79318303	RCV003153362	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aicardi-Goutieres syndrome 1	Likely pathogenic; Pathogenic	rs1354160835, rs746384382, rs748914604, rs2107255865, rs74689946, rs77371662, rs74876396, rs78762691, rs76642637, rs78300695, rs79318303, rs781199890, rs2107255387, rs2107265977, rs2107254550, rs2107256093, rs747399274, rs2107258834, rs763966000, rs770607110, rs2530041997, rs72556554, rs78218009, rs74556809, rs78408272, rs1575292873, rs78846775, rs121908117, rs2040356109, rs2530033254, rs760594164, rs2530040403, rs773808155, rs2530034759, rs953189827, rs2530037311, rs2530035923, rs2040346100, rs2530034050, rs2530041483, rs2530033946, rs2530038411, rs1336906464, rs2530033753, rs2530038732, rs2530034972, rs184953805, rs1553820434, rs1553820518, rs1575293518, rs768724007, rs756664985, rs1575295176, rs1331920811, rs763229085, rs757478752, rs2040335386	RCV001381941 RCV001380882 RCV001866193 RCV002286847 RCV000114323 RCV000114325 RCV000114326 RCV000114327 RCV000114328 RCV000114330 RCV000114334 RCV001869598 RCV001824110 RCV001971387 RCV001942306 RCV001952479 RCV001972795 RCV001953552 RCV001944393 RCV003774745 RCV003152792 RCV000004396 RCV000004398 RCV000004399 RCV000004400 RCV005031387 RCV000114331 RCV000114329 RCV002667197 RCV000191137 RCV003055644 RCV000490271 RCV003228864 RCV001251136 RCV005025421 RCV003448553 RCV003782646 RCV003787660 RCV003791867 RCV003807754 RCV003807761 RCV003806216 RCV003791181 RCV003803990 RCV003799082 RCV003801502 RCV003800676 RCV003807097 RCV003815341 RCV000408633 RCV000795266 RCV002528907 RCV000754080 RCV000761485 RCV003768447 RCV000853385 RCV001054687 RCV001041750 RCV001045764 RCV001036420 RCV001169857 RCV001262861	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aicardi-Goutieres syndrome 1, autosomal dominant	Pathogenic	rs78846775, rs121908117	RCV000004402 RCV000004405	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Pathogenic	rs763229085	RCV002282434	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chilblain lupus	Likely pathogenic; Pathogenic	rs1575292873, rs121908117	RCV001804149 RCV001804150	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chilblain lupus 1	Likely pathogenic; Pathogenic	rs1354160835, rs746384382, rs748914604, rs2107255865, rs74689946, rs77371662, rs76642637, rs78300695, rs79318303, rs781199890, rs2107265977, rs2107254550, rs2107256093, rs747399274, rs2107258834, rs763966000, rs770607110, rs72556554, rs78218009, rs74556809, rs1575292873, rs78846775, rs121908117, rs2040356109, rs2530033254, rs760594164, rs773808155, rs2530034759, rs953189827, rs2530037311, rs2530035923, rs2040346100, rs2530034050, rs2530041483, rs2530033946, rs2530038411, rs1336906464, rs2530033753, rs2530038732, rs2530034972, rs1553820434, rs1553820518, rs756664985, rs1331920811, rs763229085, rs757478752	RCV001381941 RCV001380882 RCV001866193 RCV001730099 RCV003764807 RCV000850612 RCV002513942 RCV001384732 RCV000805420 RCV001869598 RCV001971387 RCV001942306 RCV001952479 RCV001972795 RCV001953552 RCV001944393 RCV003774745 RCV000850611 RCV001384591 RCV001063407 RCV005031387 RCV002512754 RCV000819829 RCV002667197 RCV001857681 RCV003055644 RCV000806372 RCV001859564 RCV005025421 RCV003782646 RCV003787660 RCV003791867 RCV003807754 RCV003807761 RCV003806216 RCV003791181 RCV003803990 RCV003799082 RCV003801502 RCV003800676 RCV003807097 RCV003815341 RCV000795266 RCV002528907 RCV003768447 RCV001054687 RCV001041750 RCV001045764 RCV001036420	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2530034152	RCV003389160	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic	rs2530048530	RCV003389581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Likely pathogenic; Pathogenic	rs1354160835, rs746384382, rs748914604, rs74689946, rs77371662, rs76642637, rs78300695, rs79318303, rs781199890, rs2107265977, rs2107254550, rs2107256093, rs747399274, rs2107258834, rs763966000, rs2107265386, rs770607110, rs72556554, rs78218009, rs74556809, rs1575292873, rs78846775, rs121908117, rs1560113283, rs2040356109, rs2530033254, rs760594164, rs773808155, rs2530034759, rs953189827, rs2530037311, rs2530035923, rs2040346100, rs2530034050, rs2530041483, rs2530033946, rs2530038411, rs1336906464, rs2530033753, rs2530038732, rs2530034972, rs1553820434, rs1553820518, rs756664985, rs1331920811, rs763229085, rs757478752	RCV001381941 RCV001380882 RCV001866193 RCV003764807 RCV000850612 RCV002513942 RCV001384732 RCV000805420 RCV001809208 RCV001971387 RCV001942306 RCV001952479 RCV001972795 RCV001953552 RCV001944393 RCV002225175 RCV003774745 RCV000850611 RCV001384591 RCV001063407 RCV005031387 RCV002512754 RCV000819829 RCV000004406 RCV002667197 RCV001857681 RCV003055644 RCV000806372 RCV001859564 RCV005025421 RCV003782646 RCV003787660 RCV003791867 RCV003807754 RCV003807761 RCV003806216 RCV003791181 RCV003803990 RCV003799082 RCV003801502 RCV003800676 RCV003807097 RCV003815341 RCV000004403 RCV002528907 RCV003768447 RCV001054687 RCV001041750 RCV001045764 RCV001036420	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Systemic lupus erythematosus	Likely pathogenic; Pathogenic	rs76642637, rs79318303, rs72556554, rs74556809, rs1575292873, rs760594164, rs748914604, rs773808155, rs2530037311, rs1331920811, rs2040385695	RCV005031598 RCV002490761 RCV005025005 RCV005025006 RCV005031387 RCV005031788 RCV002494829 RCV005025421 RCV005038520 RCV002489572 RCV001197053	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Systemic lupus erythematosus, susceptibility to	Likely pathogenic; Pathogenic	rs72556554	RCV000004397	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombotic microangiopathy	Likely pathogenic	rs2107265602	RCV001849584	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TREX1-related disorder	Likely pathogenic; Pathogenic	rs748914604, rs78300695, rs79318303, rs72556554, rs78218009, rs756664985, rs1331920811	RCV005250194 RCV001731376 RCV004529915 RCV004540989 RCV004532286 RCV004535288 RCV000779412 RCV004528350	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AICARDI-GOUTIERES SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILBLAIN LUPUS ERYTHEMATOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CHILBLAIN LUPUS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CHILBLAIN LUPUS ERYTHEMATOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREX1-RELATED TYPE 1 INTERFERONOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	28739201		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	28739201	Associate	★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	17357087, 17846997, 18754903, 18805785, 19034401, 20131292, 21270825, 21808053, 21937424, 23592335, 23979357, 24183309, 24616097, 25604658, 25769924, 25855793, 26150267, 26182405, 26581299, 28334850, 28803918, 29959219, 31559893, 31644995, 31874111, 33482855, 33606975, 34400195, 35262626, 35803721, 35885962, 36027857, 36581356, 36814213, 38041217, 40061936	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aicardi Syndrome	Aicardi syndrome	Pubtator	32293470	Associate	★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	10827106, 15908569, 16845398, 17293595, 17357087, 17660818, 17846997, 18045533, 18406216, 18805785, 19034401, 19442247, 20799324, 21808053, 21862834, 21937424, 22071149, 22367235, 22461318, 23744109, 23918923, 24183309, 24218451, 24300241, 24616097, 25731743, 25769924, 26223655, 27496731, 28089741, 28325644, 28334850, 28739201, 28803918, 28835460, 29525183, 29781188, 29959219, 31326279, 31559893, 31644995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	CTD_human_DG	16845398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	ORPHANET_DG	16845398, 17357087, 20799324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	GENOMICS_ENGLAND_DG	17660818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Aicardi Goutieres Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME 1	Aicardi Goutieres Syndrome	GENOMICS_ENGLAND_DG	16845398, 17660818, 18583934, 24357685, 25582466, 25604658, 27411419		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AICARDI-GOUTIERES SYNDROME 1	Aicardi Goutieres Syndrome	CLINVAR_DG	16845398, 17293595, 17440703, 17660820, 17846997, 18805785, 20131292, 20799324, 20871604, 21270825, 21937424, 22829693, 23602593, 23881107, 23989343, 24183309, 24300241, 25138095, 25582466, 25604658, 25848017, 26182405, 26633545, 26691497, 26938784, 27391121, 28089741, 28750028		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AICARDI-GOUTIERES SYNDROME 1	Aicardi Goutieres Syndrome	CTD_human_DG	16845398		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AICARDI-GOUTIERES SYNDROME 1	Aicardi Goutieres Syndrome	UNIPROT_DG	16845398, 17293595, 17357087, 17846997, 18045533, 20131292, 20799324, 23979357		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT	Aicardi Goutieres Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aicardi-Goutieres Syndrome 2	Aicardi Goutieres Syndrome	CTD_human_DG	16845398		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30422000		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	18543054		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	23918923		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20496420	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	19442247		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18045533, 18805785, 19525956, 19617005, 20192983, 21808053, 21937424, 22071149, 23417527, 24224166, 24616097, 25848017, 26223655, 26432890, 28325644, 28803918, 28835460, 30872080, 30955997, 31147550, 31455522, 31826941		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	18805785, 21808053, 21937424, 23979357, 24224166, 24616097, 25278026, 25855793, 28334850, 28803918, 33606975, 35885962, 36745566, 37298611	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34400195	Inhibit	★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	25604658		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	29959219		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	28351661		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	28279982		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21270825	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	29907693		★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	23602593, 35885962	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	22113147, 23602593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	26581299	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33006365	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30674977	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Cerebral Angiitis	Cerebral Angiitis	BEFREE	28919362		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	33407657	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	30411414, 30859180, 31719132, 35307828, 35885962	Associate	★☆☆☆☆ Found in Text Mining only
Cerebroretinal vasculopathy	Cerebroretinal Vasculopathy	BEFREE	12525718		★☆☆☆☆ Found in Text Mining only
Cerebroretinal vasculopathy	Cerebroretinal Vasculopathy	GENOMICS_ENGLAND_DG	16845398		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	12525718, 25213617, 30062819		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	35885962	Associate	★☆☆☆☆ Found in Text Mining only
Chilblain lupus 1	Chilblain Lupus Erythematosus	CLINVAR_DG	16845398, 17293595, 17440703, 17660820, 17846997, 18805785, 20131292, 20799324, 20871604, 21270825, 21937424, 22829693, 23881107, 23989343, 24300241, 25582466, 25848017, 26182405, 26691497, 27391121, 28089741, 28750028		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chilblain lupus 1	Chilblain Lupus Erythematosus	UNIPROT_DG	17357087, 17440703		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chilblain lupus 1	Chilblain lupus erythematosus	Pubtator	17357087, 18805785, 21808053, 24616097, 28334850, 30673078, 32293470, 34400195, 35911727	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chilblain lupus 1	Chilblain Lupus Erythematosus	BEFREE	17440703, 17660818, 20644481, 21808053, 24616097, 25517357, 26223655, 28334850, 28919362		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chilblain lupus 1	Chilblain Lupus Erythematosus	GENOMICS_ENGLAND_DG	17660818		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chilblain lupus 1	Chilblain Lupus Erythematosus	CTD_human_DG	27566796		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chilblains	Chilblain lesions	LHGDN	17357087, 17440703		★☆☆☆☆ Found in Text Mining only
Chilblains	Chilblain lesions	BEFREE	24300241, 28919362		★☆☆☆☆ Found in Text Mining only
Chilblains	Chilblain lesions	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	28351661		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33516249, 35307828	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35181726	Associate	★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	24224166	Associate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degeneration of the striatum	Degeneration of the striatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20496420		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	31861565	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	33407657, 38124732	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	16845398		★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24551299	Associate	★☆☆☆☆ Found in Text Mining only
Familial Chilblain lupus	Chilblain Lupus Erythematosus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma of childhood	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23578789		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23578789	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	37100811	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	31805844		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	33516249	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	33407657, 35911727	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	33516249	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	30219631	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	21808053, 33476576	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	28475463		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	20192983		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25604658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Hypertension	Intracranial hypertension	Pubtator	33516249	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30062819		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	GENOMICS_ENGLAND_DG	16845398		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	25848017		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33516249	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	17660820, 18805785, 25213617, 25731743, 28919362		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	17660818		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	8112600		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	8112600		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	17440703, 20014960, 20644481, 21270825, 21808053, 21937424, 25848017, 30685859, 30872080		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	30673078	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18805785, 21270825, 21808053, 21937424, 23979357, 26150267, 28334850, 28803918, 34400195, 35911727, 35964089, 36586539, 38124732	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Cutaneous	Lupus Erythematosus	BEFREE	19478477		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	20014960, 20644481, 21270825, 21808053, 21937424, 25848017, 30685859, 30872080		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17660818, 18092167, 18805785, 19808788, 20014960, 20192983, 20644481, 21270825, 21808053, 21937424, 22488580, 23622384, 24218451, 24224166, 25848017, 27224741, 28325644, 28334850, 28803918, 29781188, 30685859, 30872080, 30955997, 31326279, 31455522, 31826941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17660818, 18092167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	UNIPROT_DG	17660818, 20131292, 23979357		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	17660818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	ORPHANET_DG	17660818, 23732569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	GENOMICS_ENGLAND_DG	18583934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	20014960, 20644481, 21270825, 21808053, 21937424, 25848017, 30685859, 30872080		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	31326279		★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	23578789		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29907693		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26687355, 28625463, 8112600		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28279982		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23578789	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	31559893	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	18451712		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	37592229	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19237629, 27886180, 28598415, 30871996		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22367235		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26646589	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21270825, 36027857	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19237629, 21212431	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	31861565	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyposis, Gastric	Gastric polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pseudo-TORCH syndrome	Pseudo-TORCH Syndrome	CTD_human_DG	16845398		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	27884288		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	30411414	Associate	★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	12525718, 21062344		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	GENOMICS_ENGLAND_DG	16845398		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	18805785, 34167956	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20496420		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	24224166	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	21270825, 33516249	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	24224166	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	33407657	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28351661		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	32586373	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32106772, 35803721	Associate	★☆☆☆☆ Found in Text Mining only
Systemic lupus erythematosus	Systemic lupus erythematosus	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Systemic Scleroderma	Scleroderma	BEFREE	22488580		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	20799324		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30674977	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	17660820, 18451712, 18805785, 25213617, 30561700		★☆☆☆☆ Found in Text Mining only
Vasculitis of the skin	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasculopathy Retinal With Cerebral Leukodystrophy	Retinal vasculopathy with cerebral leukodystrophy	Pubtator	18805785, 23602593, 26691497, 29718010, 30411414, 33516249, 33736510, 34107918	Associate	★☆☆☆☆ Found in Text Mining only
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Vasculopathy, Retinal, With Cerebral Leukodystrophy	CLINVAR_DG	16845398, 17293595, 17440703, 17660820, 17846997, 18805785, 20131292, 20799324, 20871604, 21270825, 21937424, 22829693, 23881107, 23989343, 24300241, 25582466, 25848017, 26182405, 26691497, 27391121, 28089741, 28750028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Vasculopathy, Retinal, With Cerebral Leukodystrophy	GENOMICS_ENGLAND_DG	16845398, 18583934, 24357685, 25582466, 25604658, 27411419		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Vasculopathy, Retinal, With Cerebral Leukodystrophy	ORPHANET_DG	17660820, 18583934, 20876473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Vasculopathy, Retinal, With Cerebral Leukodystrophy	BEFREE	21062344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Vasculopathy, Retinal, With Cerebral Leukodystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations