AIRE (autoimmune regulator)

Gene

• Entrez ID: 326
• Gene name: Autoimmune regulator
• Gene symbol: AIRE
• Synonyms (NCBI Gene): AIRE1, APECED, APS1, APSI, PGA1
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41277546	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs72650680	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs74162061	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121434254	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs121434255	A>G	Pathogenic	Missense variant, coding sequence variant
rs121434256	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121434257	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121434258	A>G,T	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs138066507	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs138489664	G>A,C,T	Likely-pathogenic	Splice donor variant
rs140630532	C>T	Pathogenic	Missense variant, coding sequence variant
rs142788946	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150634562	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs179363878	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs179363880	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs179363882	A>G	Pathogenic	Missense variant, coding sequence variant
rs179363886	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs179363889	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs193922417	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922418	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs199612115	G>T	Likely-pathogenic	Splice donor variant
rs201650973	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267606642	T>G	Pathogenic	Missense variant, coding sequence variant
rs386833672	->A	Pathogenic	Frameshift variant, coding sequence variant
rs386833673	A>T	Likely-pathogenic	Terminator codon variant, stop lost
rs386833674	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs386833675	CTGTCCCCTCCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906293	->C	Pathogenic	Frameshift variant, coding sequence variant
rs387906294	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906295	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs746101086	->C	Pathogenic	Frameshift variant, coding sequence variant
rs750764323	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs760280615	T>C	Likely-pathogenic	Splice donor variant
rs763695515	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs764819068	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs764878471	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs769305771	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs780906602	G>A	Pathogenic	Splice acceptor variant
rs786204478	T>C	Pathogenic, likely-pathogenic	Splice donor variant
rs786204567	->C	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs886041123	CTGA>TGG	Pathogenic	Frameshift variant, coding sequence variant
rs886041124	->CAGG	Pathogenic	Frameshift variant, coding sequence variant
rs886041293	GTG>CT	Pathogenic	Splice donor variant, intron variant
rs940485051	->AGAGCAGCAGCGC	Pathogenic	Frameshift variant, coding sequence variant
rs996389327	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1022025101	G>A	Likely-pathogenic	Splice donor variant
rs1032171597	A>G,T	Likely-pathogenic	Splice acceptor variant
rs1057516225	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516272	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516314	AG>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516411	GG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516499	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516811	->T	Likely-pathogenic	Splice donor variant
rs1057516985	T>A	Likely-pathogenic	Splice donor variant
rs1057517011	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517072	CGCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517241	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1057517254	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517268	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517428	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517878	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691636	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1162316051	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1248788128	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1488613451	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555871777	TACGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555871902	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555871928	AGC>TG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555872060	->AGCAG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555872272	T>C	Likely-pathogenic	Splice donor variant
rs1555872755	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555872879	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555872988	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555872997	->AGCCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555873087	A>G	Likely-pathogenic	Splice acceptor variant
rs1555873118	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555873248	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555873650	A>G	Pathogenic	Splice acceptor variant
rs1568928525	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1601963938	->ACGCCGGCTTCTGAGGCTGCACC	Pathogenic, likely-pathogenic	Stop gained, inframe indel, coding sequence variant
rs1601969230	CG>T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1601969308	C>T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2169389	hsa-miR-122	CLIP-seq
MIRT2169390	hsa-miR-216a	CLIP-seq
MIRT2169391	hsa-miR-4269	CLIP-seq
MIRT2169392	hsa-miR-4438	CLIP-seq
MIRT2169393	hsa-miR-4463	CLIP-seq
MIRT2169394	hsa-miR-4494	CLIP-seq
MIRT2169395	hsa-miR-4735-5p	CLIP-seq
MIRT2169396	hsa-miR-4775	CLIP-seq
MIRT2169397	hsa-miR-5095	CLIP-seq
MIRT2169398	hsa-miR-590-3p	CLIP-seq
MIRT2169389	hsa-miR-122	CLIP-seq
MIRT2471952	hsa-miR-1226	CLIP-seq
MIRT2169390	hsa-miR-216a	CLIP-seq
MIRT2169391	hsa-miR-4269	CLIP-seq
MIRT2471953	hsa-miR-4428	CLIP-seq
MIRT2169392	hsa-miR-4438	CLIP-seq
MIRT2169393	hsa-miR-4463	CLIP-seq
MIRT2169394	hsa-miR-4494	CLIP-seq
MIRT2471954	hsa-miR-4645-5p	CLIP-seq
MIRT2471955	hsa-miR-4673	CLIP-seq
MIRT2471956	hsa-miR-4733-3p	CLIP-seq
MIRT2169395	hsa-miR-4735-5p	CLIP-seq
MIRT2471957	hsa-miR-4742-5p	CLIP-seq
MIRT2169396	hsa-miR-4775	CLIP-seq
MIRT2169397	hsa-miR-5095	CLIP-seq
MIRT2169398	hsa-miR-590-3p	CLIP-seq
MIRT2674796	hsa-miR-1273g	CLIP-seq
MIRT2674797	hsa-miR-129-5p	CLIP-seq
MIRT2674798	hsa-miR-1297	CLIP-seq
MIRT2674799	hsa-miR-2052	CLIP-seq
MIRT2674800	hsa-miR-26a	CLIP-seq
MIRT2674801	hsa-miR-26b	CLIP-seq
MIRT2674802	hsa-miR-299-3p	CLIP-seq
MIRT2674803	hsa-miR-4465	CLIP-seq
MIRT2674804	hsa-miR-4491	CLIP-seq
MIRT2674805	hsa-miR-4657	CLIP-seq
MIRT2169395	hsa-miR-4735-5p	CLIP-seq
MIRT2674806	hsa-miR-4740-3p	CLIP-seq
MIRT2169396	hsa-miR-4775	CLIP-seq
MIRT2169398	hsa-miR-590-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DAXX	Repression	20185822

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	11533054
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0002458	Process	Peripheral T cell tolerance induction	IBA
GO:0002458	Process	Peripheral T cell tolerance induction	IEA
GO:0002458	Process	Peripheral T cell tolerance induction	ISS
GO:0002507	Process	Tolerance induction	IEA
GO:0002509	Process	Central tolerance induction to self antigen	IBA
GO:0002509	Process	Central tolerance induction to self antigen	IMP	26084028
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	18292755
GO:0005515	Function	Protein binding	IPI	17474147, 18292755, 20085707, 20185822
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9398840
GO:0005634	Component	Nucleus	TAS	9398839
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	18292755
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	9398840
GO:0006959	Process	Humoral immune response	IBA
GO:0006959	Process	Humoral immune response	IEA
GO:0006959	Process	Humoral immune response	IEA
GO:0008270	Function	Zinc ion binding	IDA	19446523
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IEA
GO:0016604	Component	Nuclear body	ISS
GO:0032722	Process	Positive regulation of chemokine production	IEA
GO:0032722	Process	Positive regulation of chemokine production	ISS
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IDA	18292755, 19446523
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	15712268, 20185822, 28540407
GO:0045060	Process	Negative thymic T cell selection	IBA
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0045182	Function	Translation regulator activity	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18292755
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	26084028
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11274163
GO:0046872	Function	Metal ion binding	IEA
GO:0097536	Process	Thymus epithelium morphogenesis	IBA
GO:0097536	Process	Thymus epithelium morphogenesis	IEA
GO:0097536	Process	Thymus epithelium morphogenesis	ISS
GO:2000410	Process	Regulation of thymocyte migration	IBA
GO:2000410	Process	Regulation of thymocyte migration	IEA
GO:2000410	Process	Regulation of thymocyte migration	ISS

Other IDs

• MIM: 607358
• HGNC: 360
• e!Ensembl: ENSG00000160224

Protein

• UniProt ID: O43918
• Protein name: Autoimmune regulator (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein) (APECED protein)
• Protein function: Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the peripher
• PDB: 1XWH, 2KE1, 2KFT, 2LRI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03172	HSR	3 → 103	HSR domain	Domain
  PF01342	SAND	196 → 249	SAND domain	Family
  PF00628	PHD	298 → 343	PHD-finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal liver and lymph nodes. In secondary lym
• Sequence:

  MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFH
  ALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPK
  ALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNG
  IQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSG
  SGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECA
  VCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEP
  PVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCV
  GPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVT
  PAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPA
  APFPS

• Sequence length: 545

Pathways

KEGG:

Ubiquitin mediated proteolysis
Primary immunodeficiency

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
AIRE-related disorder	Pathogenic; Likely pathogenic	rs2146375836, rs121434254, rs386833675, rs138489664, rs179363889, rs179363877	RCV004754818 RCV003421900 RCV003407265 RCV003905497 RCV004754292 RCV004754293	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia	Likely pathogenic; Pathogenic	rs386833675, rs387906295	RCV000003473 RCV000003479	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited Immunodeficiency Diseases	Pathogenic	rs121434258	RCV001027543	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyglandular autoimmune syndrome, type 1	Likely pathogenic; Pathogenic	rs2146375964, rs1184559866, rs1568926472, rs746101086, rs1179261094, rs143952576, rs2146379302, rs2146379356, rs1482020075, rs2146383463, rs2146374989, rs2146385757, rs866898746, rs2146377702, rs2146379725, rs2146375064, rs1213326298, rs759281545, rs1469386000, rs2146375951, rs2146383573, rs764588340, rs747941115, rs2146388096, rs2040560523, rs1288735234, rs2146381019, rs2146375836, rs179363875, rs2146383561, rs2146375885, rs2146376221, rs2146375012, rs746933095, rs2146375818, rs940485051, rs2146375213, rs2517875611, rs2517880431, rs2517877732, rs2517880405, rs745459635, rs2517884532, rs2517883456, rs2517880519, rs2517877698, rs2517884545, rs121434254, rs121434255, rs386833675, rs121434256, rs387906293, rs387906294, rs121434258, rs387906295, rs267606642, rs754624261, rs2517883537, rs179363880, rs786204478, rs786204567, rs2517884896, rs2040608924, rs1985597191, rs2517875693, rs2517875737, rs2040502869, rs2531842449, rs966636123, rs2517875605, rs2517882229, rs2517885999, rs754217318, rs1156582406, rs771341718, rs1340739925, rs2517880884, rs764878471, rs886041124, rs886041293, rs2517885984, rs771244760, rs2517884813, rs2517875560, rs2040479235, rs770027594, rs1427144374, rs2517876286, rs2517876891, rs2040550139, rs1022025101, rs1471741201, rs370969296, rs2517886998, rs2517885759, rs1268377224, rs1206933109, rs2517880510, rs2517880872, rs2517884900, rs2040485608, rs2517882117, rs2040518119, rs2040549725, rs1405105860, rs778067704, rs1555872879, rs2517875658, rs179363877, rs1057516272, rs1057516499, rs1057516225, rs1057517428, rs1057516314, rs1057517241, rs1057517268, rs1057517011, rs1057517254, rs1057516411, rs996389327, rs1057517072, rs1057516985, rs1057516811, rs764819068, rs140630532, rs1555871902, rs193922418, rs138489664, rs1555871777, rs769305771, rs780906602, rs1555872997, rs1555871928, rs1555872060, rs1555872988, rs1032171597, rs1555872272, rs1162316051, rs1555872755, rs1555873087, rs1555873248, rs1555873650, rs1568928525, rs1488613451, rs763695515, rs1568932096, rs750764323, rs1601963938, rs1601969308, rs760280615, rs386833672, rs386833673, rs386833674, rs179363889, rs179363882, rs179363883, rs179363884, rs179363876, rs179363886, rs179363878, rs179363879, rs179363885, rs1248788128, rs2040485564, rs755490967, rs1568929576, rs1472808103, rs2040477031, rs2040536458, rs1942959342, rs2040608439, rs2040495130, rs1029475010, rs2040534254, rs2040561421	RCV001377282 RCV001379865 RCV001381594 RCV001388926 RCV001389498 RCV001388127 RCV001390187 RCV001389532 RCV001383460 RCV001390699 RCV001783349 RCV001785904 RCV001939218 RCV002046565 RCV001904436 RCV001947793 RCV001899949 RCV001906291 RCV002017463 RCV002017393 RCV001960086 RCV001976596 RCV002022142 RCV002007164 RCV001942246 RCV001939700 RCV002037238 RCV001960685 RCV001960703 RCV001988247 RCV001951015 RCV002036245 RCV001972863 RCV001956439 RCV001952516 RCV001947002 RCV001951438 RCV002266271 RCV002306726 RCV002309573 RCV002309591 RCV002308032 RCV002308266 RCV002310156 RCV002310243 RCV002310446 RCV002310469 RCV002310573 RCV000179294 RCV000003471 RCV000049635 RCV000169129 RCV000003475 RCV000003476 RCV000003478 RCV001047339 RCV000003481 RCV003064634 RCV003050568 RCV003050569 RCV000169457 RCV000169131 RCV000169307 RCV002510430 RCV003116060 RCV002667975 RCV002727086 RCV002815818 RCV002838929 RCV002851347 RCV002856480 RCV002894335 RCV002876730 RCV002852027 RCV002941973 RCV003015578 RCV003028048 RCV003045755 RCV003043826 RCV000515133 RCV000586684 RCV000702028 RCV003326715 RCV003326723 RCV003329564 RCV003329565 RCV003329567 RCV003329568 RCV003329569 RCV003329570 RCV003447733 RCV003524214 RCV003523638 RCV003523693 RCV003523376 RCV003523377 RCV003523731 RCV003524617 RCV003636331 RCV003636306 RCV003637133 RCV003637381 RCV003635468 RCV003635499 RCV003635494 RCV003810699 RCV003827782 RCV003836388 RCV003849623 RCV003851936 RCV003990289 RCV004587984 RCV000411673 RCV000409857 RCV000410887 RCV000409889 RCV000409403 RCV000411349 RCV000411715 RCV000411502 RCV000410507 RCV000410757 RCV000409227 RCV000409587 RCV000410277 RCV000409364 RCV003522963 RCV000666247 RCV001201790 RCV000515130 RCV000029313 RCV000576629 RCV000672094 RCV000672123 RCV000665231 RCV000667023 RCV000666740 RCV000664648 RCV000666118 RCV000674104 RCV000672590 RCV000673367 RCV000666828 RCV000674283 RCV000672259 RCV000668550 RCV000665889 RCV000665514 RCV000670655 RCV000673170 RCV000672498 RCV000666886 RCV000695075 RCV000687271 RCV001045056 RCV000761489 RCV000780824 RCV000821835 RCV000822439 RCV000803575 RCV000800815 RCV000049632 RCV000049633 RCV000049634 RCV000409203 RCV000175592 RCV003522923 RCV002514297 RCV000666777 RCV001378939 RCV001037856 RCV000169178 RCV000810303 RCV003329239 RCV001061201 RCV000990354 RCV001248832 RCV001051848 RCV001051497 RCV001067755 RCV001222494 RCV001226854 RCV001241250 RCV001267736 RCV001267740 RCV001263807 RCV001263808 RCV001263809 RCV001263810 RCV001283785	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 1	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune polyglandular syndrome type 1, autosomal dominant	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED HYPOPARATHYROIDISM DUE TO IMPAIRED PTH SECRETION	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12595897		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	11298085, 18200029, 20718774, 24014553, 28911151		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	16820279, 28540407		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	12190641, 12542742, 16774540, 18194361, 18616774, 20407228, 29959280, 31601134		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	12190641, 12542742, 16774540, 18194361, 18616774, 31601134		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	LHGDN	16774540, 18194361		★☆☆☆☆ Found in Text Mining only
Alopecia totalis	Alopecia	BEFREE	12542742		★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia	BEFREE	12542742		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Pernicious	Pernicious anemia	Pubtator	34145262	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23320549, 29129473, 30403260, 31275320, 38418155	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	11343230, 15158329, 15973329, 17891543, 19322061		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10344583, 10946904, 11298085, 11524733, 11976729, 12376594, 12398240, 12503856, 12595897, 12625412, 12784192, 14734522, 14974083, 15640689, 15696198, 15790357, 15894121, 16114041, 16290093, 16431348, 16820279, 16876259, 17129978, 17360567, 17466510, 17641664, 17687331, 18264745, 18568643, 18600308, 18616774, 19265170, 19302042, 19328411, 19863576, 20668237, 20718774, 20850570, 21102544, 21198756, 21574164, 21714643, 21962774, 22224765, 22236432, 22447927, 23083345, 23256763, 23624130, 23643663, 24768600, 24945421, 24988226, 25068407, 25217160, 25402387, 25842288, 26084018, 26084028, 26312540, 26579596, 26912174, 26999605, 27048654, 27072778, 27266815, 27504588, 27916941, 27965471, 28242760, 28262400, 28318808, 28546003, 28557628, 28736829, 28769929, 28861084, 28871661, 28931462, 29291257, 29417186, 29427825, 29483906, 29666621, 29899393, 29959280, 30107266, 30177771, 30565240, 30795880, 31008523, 31127843, 31420020, 8055325, 9398839, 9650097, 9717837, 9735375, 9856486, 9888391		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	12651856, 14734522, 16784312, 23643663, 24988226, 25038256, 25402387, 26084018, 26084028, 27048654, 28242760, 29666621, 30979797, 38112858, 38418155	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	18568643, 18606876		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	31275320	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	18404362		★☆☆☆☆ Found in Text Mining only
Autoimmune polyendocrinopathy syndrome type 1	Autoimmune polyendocrine syndrome type 1	Pubtator	18322283, 19837919, 21198756, 22024611, 23342054, 23643663, 24988226, 25038256, 25367057, 26084028, 26312540, 26830021, 26912174, 27253668, 28557628, 28736829, 32358377, 32549023, 32615666, 32627016, 33468135, 34217342, 34344344, 34526996, 35521792, 38112858, 9837820	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune polyendocrinopathy syndrome, type 1	Autoimmune Polyendocrinopathy	BEFREE	10593569, 10946904, 11134089, 11156688, 11524731, 11524733, 12050215, 12398240, 12503856, 12595897, 14557425, 15290270, 15649886, 15701924, 15790357, 15886230, 15894121, 16114041, 16263818, 16290093, 16552513, 16784312, 16820279, 16965330, 17101293, 17220063, 17547716, 17641664, 17687331, 18194361, 18274776, 18404362, 18600308, 18606876, 18616706, 19196253, 19328411, 19807739, 20453472, 20805020, 20876623, 20943067, 21574164, 21724609, 21753149, 21962774, 22024611, 22236432, 22450362, 22581549, 23182677, 23314667, 23342054, 23954874, 24945421, 24957984, 24988226, 25059117, 25880100, 26141571, 26312540, 26903483, 26912174, 27105486, 27211051, 27266815, 27916941, 28257655, 28540407, 28769929, 29666621, 29959280, 29985347, 30510552, 30565240, 30979797, 31526676, 31588815, 9888391		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune polyendocrinopathy syndrome, type 1	Autoimmune Polyendocrinopathy	ORPHANET_DG	22460196, 23342054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune polyendocrinopathy syndrome, type 1	Autoimmune Polyendocrinopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant	Autoimmune Polyendocrinopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant	Autoimmune Polyendocrinopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, WITH REVERSIBLE METAPHYSEAL DYSPLASIA	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, WITH REVERSIBLE METAPHYSEAL DYSPLASIA	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune polyendocrinopathy type 1	Autoimmune Polyendocrinopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Syndrome Type II, Polyglandular	Polyglandular autoimmune syndrome	BEFREE	16784312, 21677034, 24014553, 25402387		★☆☆☆☆ Found in Text Mining only
Autoimmune Syndrome Type II, Polyglandular	Polyglandular autoimmune syndrome	CTD_human_DG	16982213		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	17101293		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29104642		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27753538, 30121939		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27753538, 32426878	Associate	★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	19196253, 20923687, 21574164, 26154078, 27916941, 28429308, 28769929, 28815025, 30510552		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19535095	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	34003463	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	30863741		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	34003463	Associate	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	14557425		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	31322727		★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	21856934		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	34003463	Associate	★☆☆☆☆ Found in Text Mining only
CTLA4 deficiency	CTLA4 Deficiency	BEFREE	30107266		★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	BEFREE	8893822		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	BEFREE	27253668		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental enamel hypoplasia	Pubtator	27253668	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16552513, 29417186		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36808352	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes insipidus	Pubtator	34344344	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Neurogenic	Neurogenic diabetes insipidus	Pubtator	25367057	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16552513, 29417186		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	25402387, 27048654, 27253668, 29129473, 32358377, 35521792	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10490523, 10720083, 11343230, 16552513, 22447927, 22564670, 27048654, 28550730, 29129473		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	28546003, 28966617		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10490523, 12190641, 17129978, 21856934		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	10490523, 25038256	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	21856934	Inhibit	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	28926640		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	21356351	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	10720083, 11298085, 16421949, 20718774, 21295522, 9837820		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	35432216	Associate	★☆☆☆☆ Found in Text Mining only
Familial isolated hypoparathyroidism due to impaired PTH secretion	Hypoparathyroidism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	29508520, 29670255		★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29550831		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	11343230		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	27266815		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	29752312	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	24708100	Inhibit	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	17101293		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	25402387, 34078422	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	34003463	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	9267805	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	14582926	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	18414681, 18426830, 20718774, 27219120, 28323927, 28540407		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	24988226, 27253668, 28323927, 31433868, 33530632, 34078422, 35521792	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Hypoparathyroidism	Hypoparathyroidism	BEFREE	16313305, 22278434		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	15973329		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	15696198, 18172072, 26999605		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30627958		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	26238369		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15086348		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34758847	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	25982289		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	28137823		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	24143217		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28232470		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18727623	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18404362, 31563273		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31563273		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	20668237		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27753538, 30121939		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29795364		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	26168014		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29795364		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20363194, 27563821		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20363194	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27072778		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	17590173, 29773681, 30734484	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	18568643, 20380583, 25230752, 27501803, 28262400, 28364296, 29773681, 30734484		★☆☆☆☆ Found in Text Mining only
Myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	15894121		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	12087064, 7585774		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30832662		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	22581549		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25230752, 26168014, 29795364		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	21197407	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29508520		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	9465297		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29670255		★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	BEFREE	15696198, 19414857, 19767069, 20109747		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30121939		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	12784192		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	12398227, 21447630, 21677034		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	22490868, 28926640		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	22490868, 28926640		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	10690877, 12625412, 14974083, 15273504, 15640689, 17891543, 19350199, 20118890, 20674321, 22933620, 23643663, 26912174, 27105486, 30002654, 31127843, 9837820, 9856486		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	LHGDN	12625412		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	CTD_human_DG	16982213		★☆☆☆☆ Found in Text Mining only
Polyglandular Deficiency Syndrome, Persian-Jewish Type	Polyglandular Deficiency Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	10049587, 10049735, 10593569, 10720083, 10728804, 10920386, 10946904, 11134089, 11156688, 11275943, 11327379, 11343230, 11524731, 11524733, 11600535, 11836330, 11976729, 12050215, 12092453, 12173302, 12190641, 12398240, 12503856, 12595897, 12625412, 12784192, 12951636, 14557425, 14734522, 15157567, 15270412, 15290270, 15649886, 15696198, 15701924, 15790357, 15886230, 15894121, 16263818, 16290093, 16313305, 16431348, 16552513, 16784312, 16876259, 16965330, 17101293, 17220063, 17374709, 17466510, 17547716, 17641664, 17891543, 18274776, 18292755, 18322283, 18404362, 18414681, 18600308, 18616706, 18616774, 18682433, 19196253, 19328411, 19676003, 19758376, 19807739, 20185822, 20309000, 20407228, 20453472, 20668237, 20876623, 20943067, 21079643, 21182094, 21198756, 21295522, 21447630, 21508664, 21574164, 21724609, 21932610, 21962774, 22024611, 22104652, 22236432, 22278434, 22344197, 22450362, 22490868, 22581549, 23000069, 23182677, 23256763, 23262341, 23314667, 23342054, 23643663, 23786295, 23954874, 24945421, 24957984, 24988226, 25059117, 25064028, 25068407, 25880100, 25926518, 25982289, 26084028, 26141571, 26312540, 26650942, 26903483, 26912174, 26972725, 27088911, 27105486, 27211051, 27219120, 27253668, 27266815, 27420045, 27504588, 27916941, 28099118, 28242760, 28257655, 28323927, 28458664, 28540407, 28557628, 28736829, 28769929, 28815025, 28871661, 28911151, 28941288, 29069385, 29108822, 29483906, 29959280, 29985347, 30002654, 30018023, 30255105, 30510552, 30565240, 30863741, 30979797, 31023489, 31244472, 31420020, 31526676, 31588815, 31601134, 9398839, 9465297, 9650097, 9717837, 9735375, 9888391, 9921903, 9922102		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	CLINVAR_DG	10677297, 11524731, 11524733, 11836330, 12050215, 14974083, 15811934, 16166780, 16965330, 17118990, 17189144, 17220063, 17289071, 17675238, 1836330, 18426830, 18616706, 18682433, 18708298, 18728167, 19265170, 19758376, 19807739, 20185822, 20407228, 20453472, 20718774, 21295522, 21508664, 21724609, 22024611, 22104652, 22162465, 22450362, 23133448, 24158785, 26084028, 26114819, 26141571, 26915675, 27048654, 27504588, 27588307, 28446514, 28567288, 28919897, 9398839, 9398840, 9717837, 9837820, 9856486, 9888391, 9921903		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	UNIPROT_DG	10677297, 11274163, 11275943, 11524731, 11524733, 11600535, 11836330, 12050215, 12173302, 12625412, 14974083, 15649886, 15712268, 16114041, 18292755, 19446523, 26084028, 27426947, 9398839, 9888391		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	CTD_human_DG	16982213		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	GENOMICS_ENGLAND_DG	19807739, 9398839		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	ORPHANET_DG	22460196, 23342054		★☆☆☆☆ Found in Text Mining only
Polyglandular Type III Autoimmune Syndrome	Polyglandular autoimmune syndrome	CTD_human_DG	16982213		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	28931462		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	10634424, 12398227, 21677034		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	11343230		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	11343230		★☆☆☆☆ Found in Text Mining only
Progressive Muscular Atrophy	Progressive Muscular Atrophy	BEFREE	12625412		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29795364		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	29795364		★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	BEFREE	19603556		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21505073, 23320549, 24170308, 25637666, 29069728, 29074995, 29129473, 30403260, 31275320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	21505073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	21505073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	15696198, 19414857		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	26168014		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	BEFREE	30121939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	32012175	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32012175	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29508520, 29670255		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	17101293		★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	16784312, 17590173, 18567864, 18568643, 20380583, 21574164, 24373506, 24768600, 25230752		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	24708100		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	28245458		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	34078422	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	32358377	Associate	★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	8893822		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	24015215, 26238369		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	18616774		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	24945421, 34003463	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	18616774		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only