CFH (complement factor H)

Gene

• Entrez ID: 3075
• Gene name: Complement factor H
• Gene symbol: CFH
• Synonyms (NCBI Gene): AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS
• Chromosome: 1
• Chromosome location: 1q31.3
• Summary: This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complem

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs460184	T>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs460897	C>T	Risk-factor, pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs800292	G>A	Benign, risk-factor, not-provided	Non coding transcript variant, coding sequence variant, missense variant
rs1061170	C>A,G,T	Benign, risk-factor, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1410996	G>A,C	Risk-factor	Intron variant, genic downstream transcript variant
rs2274700	G>A,C,T	Benign, risk-factor	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs121913051	C>G,T	Uncertain-significance, risk-factor	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, non coding transcript variant
rs121913052	T>C	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121913053	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121913054	G>A,T	Pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs121913055	T>G	Risk-factor	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121913056	T>A,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913057	T>A,C	Pathogenic, risk-factor	Genic downstream transcript variant, synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs121913058	G>A,C,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121913059	C>T	Pathogenic, risk-factor	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121913060	G>T	Risk-factor	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs121913061	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs121913062	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121913063	G>T	Risk-factor	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs387906550	T>G	Pathogenic	Intron variant
rs570523689	C>G,T	Risk-factor	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs796052136	CAACTTGTGCAAAAAGATAGAATC>-	Risk-factor	3 prime UTR variant, terminator codon variant, inframe indel, stop lost, genic downstream transcript variant, non coding transcript variant
rs796052137	GAAA>-	Risk-factor	Coding sequence variant, frameshift variant, non coding transcript variant
rs796052138	AGA>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs886039869	T>C,G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1131690796	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1300996807	A>G,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553270437	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553273733	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1558162157	CCCAGATGCA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1573026975	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1573076111	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs1573087200	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000303	hsa-miR-146a-5p	Western blot	18801740
MIRT000303	hsa-miR-146a-5p	Western blot	19540598
MIRT736902	hsa-miR-155-3p	Luciferase reporter assay, RNA-seq, Flow cytometry	33037565
MIRT2502241	hsa-miR-1291	CLIP-seq
MIRT2502242	hsa-miR-185	CLIP-seq
MIRT2502243	hsa-miR-192	CLIP-seq
MIRT2502244	hsa-miR-215	CLIP-seq
MIRT2502245	hsa-miR-31	CLIP-seq
MIRT2502246	hsa-miR-3128	CLIP-seq
MIRT2502247	hsa-miR-3135b	CLIP-seq
MIRT2502248	hsa-miR-320e	CLIP-seq
MIRT2502249	hsa-miR-328	CLIP-seq
MIRT2502250	hsa-miR-3661	CLIP-seq
MIRT2502251	hsa-miR-3664-3p	CLIP-seq
MIRT2502252	hsa-miR-383	CLIP-seq
MIRT2502253	hsa-miR-3923	CLIP-seq
MIRT2502254	hsa-miR-4306	CLIP-seq
MIRT2502255	hsa-miR-4436a	CLIP-seq
MIRT2502256	hsa-miR-4644	CLIP-seq
MIRT2502257	hsa-miR-510	CLIP-seq
MIRT2502258	hsa-miR-512-5p	CLIP-seq
MIRT2502259	hsa-miR-631	CLIP-seq
MIRT2502260	hsa-miR-640	CLIP-seq
MIRT2502261	hsa-miR-659	CLIP-seq
MIRT2502262	hsa-miR-711	CLIP-seq
MIRT2502241	hsa-miR-1291	CLIP-seq
MIRT2502242	hsa-miR-185	CLIP-seq
MIRT2502243	hsa-miR-192	CLIP-seq
MIRT2502244	hsa-miR-215	CLIP-seq
MIRT2502245	hsa-miR-31	CLIP-seq
MIRT2502246	hsa-miR-3128	CLIP-seq
MIRT2502247	hsa-miR-3135b	CLIP-seq
MIRT2502248	hsa-miR-320e	CLIP-seq
MIRT2502249	hsa-miR-328	CLIP-seq
MIRT2502250	hsa-miR-3661	CLIP-seq
MIRT2502251	hsa-miR-3664-3p	CLIP-seq
MIRT2502252	hsa-miR-383	CLIP-seq
MIRT2502253	hsa-miR-3923	CLIP-seq
MIRT2502254	hsa-miR-4306	CLIP-seq
MIRT2502255	hsa-miR-4436a	CLIP-seq
MIRT2502256	hsa-miR-4644	CLIP-seq
MIRT2678050	hsa-miR-4696	CLIP-seq
MIRT2502257	hsa-miR-510	CLIP-seq
MIRT2502258	hsa-miR-512-5p	CLIP-seq
MIRT2502259	hsa-miR-631	CLIP-seq
MIRT2502260	hsa-miR-640	CLIP-seq
MIRT2502261	hsa-miR-659	CLIP-seq
MIRT2502262	hsa-miR-711	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SIRT1	Repression	17558024

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001851	Function	Complement component C3b binding	IBA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	16612335, 17244159, 17293598, 17339482, 17399790, 18627465, 18786923, 19050261, 19084272, 19225461, 19632990, 19680263, 19850925, 20042240, 21317894, 21930971, 21979047, 22786770, 23332154, 24835392, 26468283, 26538390, 28258151, 28533443, 28671664, 29374201
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	NAS	20378178, 28671664
GO:0005615	Component	Extracellular space	TAS	9312129
GO:0006508	Process	Proteolysis	IDA	28671664
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	IDA	24835392
GO:0006956	Process	Complement activation	IEA
GO:0006956	Process	Complement activation	TAS	9312129
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0008201	Function	Heparin binding	IDA	22471560
GO:0008201	Function	Heparin binding	IEA
GO:0030449	Process	Regulation of complement activation	IDA	25284781
GO:0030449	Process	Regulation of complement activation	IEA
GO:0030451	Process	Regulation of complement activation, alternative pathway	IDA	20378178, 28671664
GO:0042802	Function	Identical protein binding	IPI	19505476, 19850925, 26468283
GO:0043395	Function	Heparan sulfate proteoglycan binding	IDA	22471560
GO:0045087	Process	Innate immune response	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0106139	Component	Symbiont cell surface	IDA	23332154
GO:1903659	Process	Regulation of complement-dependent cytotoxicity	IDA	25284781
GO:1905370	Component	Serine-type endopeptidase complex	IPI	28671664

Other IDs

• MIM: 134370
• HGNC: 4883
• e!Ensembl: ENSG00000000971

Protein

• UniProt ID: P08603
• Protein name: Complement factor H (H factor 1)
• Protein function: Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self markers such as glycan structures prevents complem
• PDB: 1HAQ, 1HCC, 1HFH, 1HFI, 2BZM, 2G7I, 2IC4, 2JGW, 2JGX, 2KMS, 2QFG, 2QFH, 2RLP, 2RLQ, 2UWN, 2V8E, 2W80, 2W81, 2WII, 2XQW, 3GAU, 3GAV, 3GAW, 3KXV, 3KZJ, 3OXU, 3R62, 3RJ3, 3SW0, 4AYD, 4AYE, 4AYI, 4AYM, 4B2R, 4B2S, 4J38, 4K12, 4ONT, 4ZH1, 5NBQ, 5O32, 5O35, 5WTB, 6ATG, 6ZH1, 7WKI, 7ZJM, 9F7I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	22 → 80	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	85 → 141	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	146 → 205	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	210 → 262	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	267 → 320	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	325 → 386	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	387 → 442	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	448 → 505	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	509 → 564	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	569 → 623	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	630 → 684	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	691 → 744	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	811 → 864	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	870 → 926	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	931 → 984	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	989 → 1043	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1048 → 1102	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1109 → 1163	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	1167 → 1228	Sushi repeat (SCR repeat)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the retinal pigment epithelium (at protein level) (PubMed:25136834). CFH is one of the most abundant complement components in blood where the liver is the major source of CFH protein in vivo. in addition, CFH is secreted b
• Sequence:

  MRLLAKIICLMLWAICVAEDCNELPPRRNTEILTGSWSDQTYPEGTQAIYKCRPGYRSLG
  NVIMVCRKGEWVALNPLRKCQKRPCGHPGDTPFGTFTLTGGNVFEYGVKAVYTCNEGYQL
  LGEINYRECDTDGWTNDIPICEVVKCLPVTAPENGKIVSSAMEPDREYHFGQAVRFVCNS
  GYKIEGDEEMHCSDDGFWSKEKPKCVEISCKSPDVINGSPISQKIIYKENERFQYKCNMG
  YEYSERGDAVCTESGWRPLPSCEEKSCDNPYIPNGDYSPLRIKHRTGDEITYQCRNGFYP
  ATRGNTAKCTSTGWIPAPRCTLKPCDYPDIKHGGLYHENMRRPYFPVAVGKYYSYYCDEH
  FETPSGSYWDHIHCTQDGWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGKSIDVACHPGY
  ALPKAQTTVTCMENGWSPTPRCIRVKTCSKSSIDIENGFISESQYTYALKEKAKYQCKLG
  YVTADGETSGSITCGKDGWSAQPTCIKSCDIPVFMNARTKNDFTWFKLNDTLDYECHDGY
  ESNTGSTTGSIVCGYNGWSDLPICYERECELPKIDVHLVPDRKKDQYKVGEVLKFSCKPG
  FTIVGPNSVQCYHFGLSPDLPICKEQVQSCGPPPELLNGNVKEKTKEEYGHSEVVEYYCN
  PRFLMKGPNKIQCVDGEWTTLPVCIVEESTCGDIPELEHGWAQLSSPPYYYGDSVEFNCS
  ESFTMIGHRSITCIHGVWTQLPQCVAIDKLKKCKSSNLIILEEHLKNKKEFDHNSNIRYR
  CRGKEGWIHTVCINGRWDPEVNCSMAQIQLCPPPPQIPNSHNMTTTLNYRDGEKVSVLCQ
  ENYLIQEGEEITCKDGRWQSIPLCVEKIPCSQPPQIEHGTINSSRSSQESYAHGTKLSYT
  CEGGFRISEENETTCYMGKWSSPPQCEGLPCKSPPEISHGVVAHMSDSYQYGEEVTYKCF
  EGFGIDGPAIAKCLGEKWSHPPSCIKTDCLSLPSFENAIPMGEKKDVYKAGEQVTYTCAT
  YYKMDGASNVTCINSRWTGRPTCRDTSCVNPPTVQNAYIVSRQMSKYPSGERVRYQCRSP
  YEMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPIDNGDITSFPLSVYAPASSVEYQCQN
  LYQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIALRWTAKQKLYSRTGESVEFV
  CKRGYRLSSRSHTLRTTCWDGKLEYPTCAKR

• Sequence length: 1231

Pathways

KEGG:

Complement and coagulation cascades
Staphylococcus aureus infection

Reactome:

Regulation of Complement cascade

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
Age related macular degeneration 4	Likely pathogenic; Pathogenic	rs757785149, rs2149082076, rs2149113459, rs1210674261, rs150694809, rs1274067311, rs1669420365, rs121913051, rs976333015, rs460897, rs1061170, rs121913061	RCV002488198 RCV005868381 RCV005002715 RCV002484526 RCV002507687 RCV005002859 RCV005002893 RCV005003620 RCV005871185 RCV002496396 RCV000018015 RCV005867775	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atypical hemolytic-uremic syndrome	Likely pathogenic; Pathogenic	rs757785149, rs755790570, rs575109631, rs2149118700, rs2149082076, rs1387205085, rs1210674261, rs2149088724, rs150694809, rs2149103688, rs2529561797, rs1354648948, rs2529561891, rs121913051, rs976333015, rs780411647, rs460897, rs121913057, rs121913060, rs1328357943, rs1652989506	RCV005866984 RCV005867068 RCV005867081 RCV005867153 RCV005868381 RCV004017872 RCV005868450 RCV005868481 RCV005868475 RCV005868522 RCV002294686 RCV002294716 RCV005870133 RCV005869261 RCV005871185 RCV005871186 RCV001328244 RCV005867767 RCV005867772 RCV005867774 RCV001328128 RCV001328122	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Basal laminar drusen	Likely pathogenic; Pathogenic	rs757785149, rs755790570, rs2149082076, rs2149113459, rs1210674261, rs2149088724, rs150694809, rs1274067311, rs1669420365, rs121913051, rs460897, rs1061170, rs121913061	RCV002488198 RCV005867068 RCV005868381 RCV005002715 RCV002484526 RCV005868481 RCV002507687 RCV005002859 RCV005002893 RCV005003620 RCV002496396 RCV000018016 RCV000018028	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CFH-related disorder	Likely pathogenic; Pathogenic	rs1210674261, rs1274067311, rs460897	RCV004529049 RCV004782950 RCV004528119	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Factor H deficiency	Likely pathogenic; Pathogenic	rs757785149, rs755790570, rs2149118700, rs2149082076, rs2149117986, rs1387205085, rs2149113459, rs1210674261, rs150694809, rs1274067311, rs1669420365, rs2529549247, rs2529499351, rs121913051, rs460897, rs121913054, rs121913058, rs796052138	RCV002488198 RCV003451763 RCV001530205 RCV005868381 RCV005054377 RCV005868382 RCV005002715 RCV002484526 RCV002507687 RCV005002859 RCV005002893 RCV003126313 RCV003148122 RCV005003620 RCV002496396 RCV000018013 RCV000018021 RCV000018022	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely pathogenic; Pathogenic	rs757785149, rs2149113459, rs1210674261, rs150694809, rs1274067311, rs1669420365, rs2529549247, rs2529544865, rs121913051, rs460897, rs121913057, rs121913060, rs2529474366, rs2529534149, rs1311814991, rs2529386595, rs2529474661, rs2529557310, rs1131690796, rs1553273733, rs1558162157, rs1573087200, rs1573076111	RCV002488198 RCV005002715 RCV002484526 RCV002507687 RCV005002859 RCV005002893 RCV003126313 RCV003239331 RCV005003620 RCV000018008 RCV000018011 RCV000018020 RCV000018027 RCV003991313 RCV003991386 RCV004545929 RCV004555460 RCV004555760 RCV004577087 RCV000493294 RCV000505614 RCV000735706 RCV000787023 RCV001029905	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs150694809	RCV005924351	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR UVEITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME WITH COMPLEMENT GENE ABNORMALITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C3 GLOMERULONEPHRITIS	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C3 GLOMERULOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL SEROUS RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC CENTRAL SEROUS RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT FACTOR H DEFICIENCY	—	CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DE NOVO THROMBOTIC MICROANGIOPATHY FOLLOWING TRANSPLANT OF KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATION OF MACULA AND POSTERIOR POLE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOYNE HONEYCOMB RETINAL DYSTROPHY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Atypical Hemolytic-Uremic Syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL CORNEAL DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC-UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration	Uncertain significance	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MACULAR DEGENERATION, AGE-RELATED, 4	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesangiocapillary glomerulonephritis, type II	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANUVEITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombotic microangiopathy	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS, POSTERIOR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ablepharon macrostomia syndrome	Ablepharon macrostomia syndrome	Pubtator	31970928	Associate	★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	23938460		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21503575		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21503575, 29434030		★☆☆☆☆ Found in Text Mining only
Afibrinogenemia	Afibrinogenemia	BEFREE	11422911		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	15761120, 15761121, 15761122, 15870199, 15895326, 15930014, 16080115, 16174643, 16300415, 16379025, 16431947, 16518403, 16541016, 16575691, 16642439, 16710702, 16723442, 16754848, 16774956, 16787919, 16816528, 16818082, 16849663, 16865697, 16877387, 16885922, 16905558, 16919753, 16936080, 16936732, 16936733, 16954704, 16987874, 16998489, 17000705, 17003406, 17050575, 17053108, 17079491, 17089378, 17101537, 17134647, 17151483, 17157600, 17167412, 17194541, 17198853, 17210848, 17210851, 17210852, 17210853, 17210858, 17241667, 17266113, 17285240, 17293598, 17306880, 17314151, 17327825, 17339482, 17352366, 17360715, 17362990, 17396242, 17398321, 17399790, 17420372, 17426452, 17438673, 17456821, 17460581, 17464302, 17467263, 17491602, 17517971, 17548524, 17576744, 17580967, 17591627, 17631852, 17659362, 17679948, 17704937, 17724217, 17869048, 17877809, 17911160, 17962488, 17995985, 18043728, 18050121, 18054635, 18054958, 18067970, 18081690, 18084039, 18097986, 18161619, 18162041, 18163432, 18164066, 18190458, 18203751, 18211923, 18223247, 18235016, 18252232, 18252712, 18263814, 18292785, 18316707, 18336910, 18340363, 18362109, 18378209, 18421087, 18423869, 18433936, 18436811, 18436830, 18461138, 18493315, 18502988, 18515590, 18538409, 18596911, 18627285, 18627465, 18682806, 18682812, 18718667, 18766990, 18784628, 18786923, 18852870, 18939352, 18996904, 19001225, 19009282, 19015224, 19019939, 19043567, 19048105, 19074778, 19076829, 19091853, 19129916, 19168221, 19169230, 19169232, 19169411, 19187590, 19202148, 19259132, 19365580, 19388168, 19553609, 19568762, 19646183, 19661236, 19680273, 19684010, 19692124, 19745068, 19796758, 19797206, 19806217, 19822851, 19822855, 19823576, 19845562, 19850835, 19850925, 19899988, 19933189, 19961953, 20007824, 20022638, 20038862, 20042647, 20042653, 20122735, 20132989, 20238042, 20346514, 20385334, 20385819, 20456446, 20523265, 20538655, 20574013, 20576771, 20592223, 20605213, 20626361, 20660596, 20678803, 20688737, 20708732, 20711704, 20711705, 20843825, 20861866, 20863311, 20869121, 20876352, 20881291, 20888482, 21106043, 21111031, 21139680, 21139980, 21146613, 21151600, 21158586, 21232084, 21270465, 21282580, 21380501, 21396937, 21447678, 21555552, 21558292, 21609232, 21621535, 21642625, 21670343, 21682878, 21729696, 21743006, 21757876, 21790300, 21816153, 21825180, 21825189, 21850184, 21856016, 21881555, 21899915, 21906714, 21909106, 21930971, 21955118, 21979047, 22019782, 22022419, 22024702, 22035603, 22059990, 22067048, 22120053, 22133792, 22155603, 22232432, 22247456, 22253316, 22259222, 22293892, 22300950, 22426290, 22486323, 22491393, 22551349, 22552255, 22558131, 22570352, 22594510, 22694956, 22706242, 22838951, 22875704, 22893068, 22905135, 22930722, 22933840, 22936692, 22965593, 22969267, 22977134, 23029250, 23060141, 23098369, 23103884, 23111182, 23112567, 23209669, 23260260, 23289807, 23302509, 23306536, 23326517, 23362846, 23365078, 23365660, 23399375, 23441108, 23494043, 23497844, 23534868, 23549092, 23559864, 23562165, 23577725, 23582991, 23596508, 23687431, 23706948, 23747161, 23848218, 23867343, 23873044, 23922956, 23972322, 24080590, 24083687, 24113783, 24265543, 24287500, 24362810, 24367156, 24391822, 24393350, 24440287, 24453474, 24491417, 24526414, 24550369, 24550392, 24557084, 24576882, 24595987, 24608419, 24634144, 24664701, 24670995, 24692129, 24702844, 24773320, 24781946, 24863099, 24865190, 24865191, 24897289, 24901472, 24906858, 24953792, 24970616, 24974817, 24995509, 25111812, 25277308, 25305316, 25363549, 25393287, 25402348, 25439433, 25447048, 25612476, 25695752, 25735482, 25786237, 25804937, 25814826, 25880396, 26045838, 26132079, 26152901, 26154559, 26171855, 26176960, 26215151, 26312598, 26354764, 26376859, 26383995, 26411831, 26439641, 26490493, 26501415, 26503844, 26542071, 26614632, 26654980, 26727378, 26742632, 26765636, 26767664, 26854823, 26861912, 26896123, 27151934, 27196323, 27225020, 27241480, 27257685, 27269047, 27316788, 27376713, 27404493, 27471039, 27502478, 27521170, 27572114, 27647805, 27706724, 27778189, 27832277, 27866147, 27918307, 27918759, 27942748, 27966779, 27974306, 28005184, 28011711, 28095095, 28159936, 28173125, 28189794, 28228273, 28228282, 28332910, 28343170, 28593728, 28637873, 28641277, 28703135, 28717807, 28859202, 28913923, 28928087, 29032853, 29087762, 29096998, 29132549, 29197628, 29234687, 29312308, 29346644, 29367644, 29374201, 29392318, 29398083, 29423786, 29453225, 29529059, 29592796, 29596588, 29686068, 29801032, 30050540, 30071029, 30089174, 30179527, 30253188, 30280493, 30285522, 30320589, 30342988, 30389424, 30571798, 30572074, 30596689, 30616835, 30696427, 30705315, 30820144, 30895599, 30996586, 31176916, 31267090, 31358387, 31456517, 31524260, 31554875, 31731799		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	15761120, 15761121, 15761122, 16541016, 16710702, 16754848, 16849663, 16936080, 16936732, 17079491, 17157600, 17167412, 17198853, 17241667, 17285240, 17306880, 17314151, 17399790, 17438673, 17591627, 17846371, 17962488, 18162041, 18163432, 18223247, 18263814, 18336910, 18340363, 18378209, 18538409, 18682812, 18784628, 18852870, 18855541, 18936151, 18939352, 19001225, 19187590		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	15761122, 20385819, 20385826, 20861866, 21665990, 22694956, 23326517, 23455636, 23577725, 26691988, 28703135, 29346644		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	15761122, 20385819, 20385826, 20861866, 21665990, 21909106, 22125219, 22694956, 22705344, 23326517, 23455636, 23577725		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	CTD_human_DG	16518403, 16754848, 17554167, 21909106, 22019782, 26691988		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	19019939		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, X-Linked	Alport Syndrome, X-Linked	BEFREE	19019939		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	17018561, 21555552, 22542290, 25188723, 33384694, 33519811	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18801740, 22660168, 26243271, 35387811, 37480051	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	17999207		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	21107304		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	30630982	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	17000000, 17084897, 17229916, 20865640, 24118826, 30804016		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	30630982		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	20971742	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	27419833		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	9312129	Inhibit	★☆☆☆☆ Found in Text Mining only
Anterior uveitis	Uveitis	BEFREE	22065918, 22714898, 23966370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	14978182		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26342886		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26342886		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17396242, 18538409, 19076828, 22067048		★☆☆☆☆ Found in Text Mining only
Arthritis Reactive	Reactive arthritis	Pubtator	10931160	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10931160, 12780697, 37996918	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30366082, 32817007	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	23112567, 28729648	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17396242, 18538409, 19076828, 22067048		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	18292760, 19076828	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	30519244	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	21633121	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	26243271, 34160562, 37020564	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	10577907, 11170895, 12424708, 12960213, 14986080, 15121049, 15140578, 15634279, 15696434, 15784724, 16431247, 16470555, 16528247, 16575691, 16810287, 16896298, 17076561, 17084897, 17089378, 17295030, 17367211, 17517971, 17599974, 18006700, 18070148, 18081690, 18089972, 18190458, 18235085, 18268093, 18340363, 18423815, 18424762, 18425537, 19005013, 19076829, 19190803, 19351878, 19435718, 19454698, 19531976, 19568827, 19590060, 19633317, 19745068, 19850925, 19854549, 19856002, 19861685, 19951285, 20106822, 20202729, 20203157, 20304497, 20305136, 20526633, 20703214, 20714753, 20738267, 20865640, 20877372, 21161283, 21270465, 21270828, 21322001, 21601332, 21617085, 21677636, 21717289, 21810760, 21868097, 21877169, 21881555, 21906045, 21967634, 22058112, 22120053, 22136554, 22171659, 22223611, 22410797, 22420623, 22494769, 22622361, 22669319, 22669321, 22721707, 22894814, 23243267, 23431077, 23743117, 23787552, 23810412, 23870792, 23880784, 23982707, 24005975, 24218264, 24221349, 24344133, 24352218, 24378252, 24843058, 24904082, 24931815, 25135378, 25280590, 25538218, 25608561, 25659429, 25733390, 25752761, 25816809, 25917093, 25951460, 26011580, 26163426, 26376859, 26604087, 26915021, 27006390, 27064621, 27177491, 27268256, 27718086, 27929404, 27932477, 28057640, 28189794, 28424685, 28502324, 28637873, 28647502, 28729648, 28744369, 28750931, 28821363, 28939980, 28941939, 28993505, 29157988, 29215813, 29218045, 29241200, 29321782, 29331477, 29419916, 29485195, 29582550, 29610995, 29686068, 29740447, 29750742, 29778558, 29858280, 29888403, 29959568, 30039480, 30050540, 30116238, 30286829, 30524124, 30711487, 30804016, 30851964, 30889567, 30905589, 30910380, 31118930, 31231391, 31524260, 31705748, 31719147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	CTD_human_DG	14978182, 22019782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	16386793, 16533809, 16601698, 17367211, 17973958, 18006700, 18235085, 18268093, 18424762, 18483746, 19005013, 19373492, 19459807, 19745068, 19861685, 19951285, 20016463, 20059470, 20203157, 20595690, 20703214, 20723134, 20738267, 20877372, 21051740, 21103695, 21617085, 21868097, 21877169, 22410797, 22420623, 22494769, 22622361, 22669319, 22786770, 23243267, 23356914, 23431077, 23880784, 23982707, 25037630, 25608561, 25659429, 25816809, 26376859, 26604087, 26703217, 27064621, 28275964, 28941939, 28993505, 29215813, 29500241, 29511899, 29740447, 29888403, 30377230, 30715674, 31118930, 32361709, 33784485, 33826112, 33988670, 34189567, 34388364, 34643860, 36091034, 36591301, 36755127, 36793547, 37744338, 37954621, 39643072	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic uremic syndrome with complement gene abnormality	Hemolytic Uremic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	37031449	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25659429, 26551678, 29208248, 31270173, 31354740		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	29874282, 32361709, 36091034, 37406976	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	31014550, 33384694	Associate	★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	28658265		★☆☆☆☆ Found in Text Mining only
BASAL LAMINAR DRUSEN (disorder)	Basal Laminar Drusen	BEFREE	17210858, 22491393, 22933840, 25814826, 27007659		★☆☆☆☆ Found in Text Mining only
BASAL LAMINAR DRUSEN (disorder)	Basal Laminar Drusen	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
BASAL LAMINAR DRUSEN (disorder)	Basal Laminar Drusen	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
BASAL LAMINAR DRUSEN (disorder)	Basal Laminar Drusen	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	22876110	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	20596604		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	15895326	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26849056	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18422756, 22094188		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19840196, 32923173	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	23276942	Stimulate	★☆☆☆☆ Found in Text Mining only
C3 Glomerulonephritis	C3 Glomerulonephritis	BEFREE	21270828, 22790979, 23204401, 24067434, 24586071, 30595568, 31014550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C3 glomerulopathy	C3 Glomerulopathy	BEFREE	21688191, 23204401, 23728171, 24161036, 26376859, 26895476, 27490940, 27932477, 28096309, 28139294, 28729648, 28941939, 29858280, 30595568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C3 glomerulopathy	C3 Glomerulopathy	GENOMICS_ENGLAND_DG	27458560		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	35398599	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Digestive System	Gastric Cancer	BEFREE	25272045		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19840196, 29454310	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22065898	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	20596604		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21503575, 22197220, 27160908, 30987235		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35142956	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23938460	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23938460, 26297502	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	18179888, 21219870, 22523091, 24509080, 26857240, 26933038, 30083183, 30260394, 31836140		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	26933038	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	11583900, 19716112, 23965743, 31293105, 32993534	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	16630992, 18292760, 40023439	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17869048, 18292760, 19098018, 19428307, 20874719, 29218045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18292760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract Nuclear Progressive	Congenital cataract	Pubtator	27911330	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	23243267	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	18292760	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21695352, 23500067		★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	17631852, 18292785, 21232084, 22678500, 22699975, 24847905, 27832277, 31988359	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	20660596, 35693785, 38155185	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	12020532, 14986080, 15696434, 15800115, 19633317, 20865639, 21071971, 21688191, 23399570, 23431077, 23880784, 24586071, 29907460, 30804016, 31705748, 31705764		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	15800115, 18423815, 21688191, 30141239, 31705764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23760402, 23850806, 28658265		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31632001		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23662819, 26243271	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18183578, 22689052		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18183578		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24516561	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	25272045		★☆☆☆☆ Found in Text Mining only
COMPLEMENT COMPONENT 2 DEFICIENCY	Complement Component Deficiency	BEFREE	2966809		★☆☆☆☆ Found in Text Mining only
Complement component 3 deficiency	C3 Deficiency	BEFREE	16499568		★☆☆☆☆ Found in Text Mining only
Complement Component 3 Deficiency Autosomal Recessive	Complement component deficiency	Pubtator	28729648	Associate	★☆☆☆☆ Found in Text Mining only
Complement Component 4a Deficiency	Complement Component Deficiency	BEFREE	1826409		★☆☆☆☆ Found in Text Mining only
Complement deficiency disease	Complement Component Deficiency	GENOMICS_ENGLAND_DG	24722444		★☆☆☆☆ Found in Text Mining only
Complement Factor H Deficiency	Complement Component Deficiency	UNIPROT_DG	10803850, 11158219, 11170895, 11170896, 12020532, 14978182, 16612335, 9312129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Factor H Deficiency	Complement Component Deficiency	GENOMICS_ENGLAND_DG	11170895, 24722444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Factor H Deficiency	Complement component deficiency	Pubtator	11170896, 18268093, 18782275, 22420623, 23772024, 26376859, 28729648, 28941939, 29500241, 29592796, 29874282, 29888403, 30595568, 31118930, 33519811, 35693785, 36755127, 37615951, 9312129, 9551389	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Factor H Deficiency	Complement Component Deficiency	BEFREE	15685522, 16810287, 16909242, 17024390, 20090363, 2088459, 21270828, 22420623, 23870792, 27744619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Factor H Deficiency	Complement component deficiency	Pubtator	8809142	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Factor H Deficiency	Complement Component Deficiency	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Factor H Deficiency	Complement Component Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Factor H Deficiency	Complement Component Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complement Factor I (C3 inactivator) deficiency	Complement Component Deficiency	BEFREE	16387683, 7922290		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	25447048		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pulmonary artery	Congenital Hypoplasia Of Pulmonary Artery	BEFREE	25724586		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	23975679		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	20539230, 20734203, 24904082, 29222317, 30177429		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28195242, 29142012		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal neovascularization	Pubtator	18682806, 22247473, 24498017	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	29207079	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16630992, 17352366, 17396242, 17483111, 17877809, 18604638, 20127520, 20708732		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16630992, 17352366, 17396242, 17472578, 17483111, 17877809, 18604638, 20127520, 20708732, 23620142		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	29207079	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	16630992, 18292760	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16630992, 17352366, 17396242, 17483111, 17877809, 18292760, 18604638, 20127520, 20708732		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	17877809		★☆☆☆☆ Found in Text Mining only
Dense deposit disease	Dense Deposit Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	26342886, 29115597, 29798743		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17472578, 22426290, 24675670, 28481335		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35370940	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	16630992, 24675670	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17472578, 22426290, 24675670, 28481335		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24586071	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19646183, 28528077, 31428128, 31711499		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37063851	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	21067572, 23864767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	21067572, 23864767, 29096998, 32117292, 35925583	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of eye	Disorder Of Eye	LHGDN	18423869		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	20385334, 25200399, 29032853		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	18252232, 21825189		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	17018561	Inhibit	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	21126853		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	25246303		★☆☆☆☆ Found in Text Mining only
Dowling Degos Disease	Dowling degos disease	Pubtator	16299065	Associate	★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	19388168, 21784901, 22223606, 24338037, 25033230		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22182977		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	22182977, 28381748	Associate	★☆☆☆☆ Found in Text Mining only
DOYNE HONEYCOMB RETINAL DYSTROPHY	Doyne Honeycomb Retinal Dystrophy	ORPHANET_DG	18252232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Drusen	Drusen	BEFREE	15870199, 17053108, 17327825, 18043728, 18054958, 18211923, 18252232, 18936151, 20523265, 20711705, 22838951, 22875704, 24083687, 24332537, 24970616, 25305316, 25838066, 25880396, 26915021, 27502478, 27572114, 28859202, 30905644, 31456517, 31658355		★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	HPO_DG			★☆☆☆☆ Found in Text Mining only
Drusen, Radial, Autosomal Dominant	Drusen	ORPHANET_DG	18252232		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	23840815, 25214719	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	27409453		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	BEFREE	18952429, 19687455, 25274776		★☆☆☆☆ Found in Text Mining only
Emery-Dreifuss Muscular Dystrophy 6, X-Linked	Emery-Dreifuss Muscular Dystrophy, X-Linked	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Emery-Dreifuss Muscular Dystrophy 6, X-Linked	Emery-Dreifuss Muscular Dystrophy, X-Linked	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	37426659	Associate	★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	16549533		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	27852797, 29590637		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23321464	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	29288229	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	31795786	Inhibit	★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	16379025, 16710702, 16877387, 16954704, 17167412, 17210851, 17210853, 17285240, 17398321, 17704937, 17995985, 18054635, 18164066, 18223247, 18292785, 18316707, 18362109, 18421087, 18682812, 18704199, 18852870, 18939352, 19091853, 19187590, 19692124, 19850835, 20538655, 21111031, 21158586, 21232084, 21558292, 22293892, 22594510, 22848690, 23274582, 23584701, 24070809, 24520367, 24692129, 25277308, 25695752, 25771815, 26132079, 26411831, 26439641, 27362858, 27404493, 27778189, 28005184, 28120909, 28128795, 28192798, 28471284		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	22705344, 25629512, 26691988, 28703135		★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	22705344, 25629512, 26691988, 28703135		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	24278416, 34239032	Associate	★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor XII Deficiency	BEFREE	21271273		★☆☆☆☆ Found in Text Mining only
Familial drusen	Drusen	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial Thrombotic Thrombocytopenic Purpura	Thrombotic thrombocytopenic purpura	BEFREE	15800115		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	26116897	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	25299043		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	BEFREE	16387683, 7922290		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	22594991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	GWASCAT_DG	28358029		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	9641746		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	22689052		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	16431947, 16828512, 17591865, 18682806, 19823576, 20381870, 21402993, 22704140, 23706948, 24557084, 27149696, 27257685, 27832277, 30071029, 31358387		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	22705344, 26691988		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10698334		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33053208	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10698334, 31519376		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	1386864, 30111766		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30111766	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	17018561, 18190458, 20702729, 23870792, 24586071, 6461667		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	22542290, 24586071, 28381748, 36211394, 36227893	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	24458077, 24586071, 25205734, 26825529, 26940089, 28637589, 37651123	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	BEFREE	14978182, 16528247, 16575691, 16612335, 16810287, 16919753, 17089378, 17548524, 18070148, 18081690, 18190458, 18336910, 19019939, 19388168, 19640589, 21188423, 21270828, 21396679, 21810760, 22388616, 22721707, 22790979, 26289290, 7985676		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	CTD_human_DG	14978182		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	LHGDN	16299065, 18336910		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	22594991	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	16300415, 16754848, 16865697, 17050575, 17157600, 17210851, 17398321, 17679948, 18054635, 18164066, 18203751, 18223247, 18292785, 18682806, 18939352, 19015224, 19091853, 19187590, 19692124, 19823576, 19850835, 19899988, 20456446, 21111031, 21158586, 21282580, 21682878, 22594510, 23260260, 23534868, 24080590, 24083687, 24113783, 24362810, 24393350, 24897289, 25277308, 25402348, 26154559, 26171855, 26411831, 26439641, 26542071, 26614632, 26861912, 27404493, 27572114, 27778189, 27966779, 28005184, 28159936, 28228273, 28641277, 28703135, 28928087, 29087762, 29197628, 29312308, 29367644, 31267090		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	16723442, 19117936, 24498017, 24906858, 25125603, 25205864, 25214719, 27196323, 30366082, 32176267, 33946050, 37079300	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IXD	Glycogen storage disease	Pubtator	21629301	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	20730046	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	28121931		★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	28707765	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19716112, 26933038, 32993534	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28195242, 29142012		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32383555, 38225249, 40023439	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	LHGDN	18658028		★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	ORPHANET_DG	18658028, 22594569		★☆☆☆☆ Found in Text Mining only
HELLP syndrome	HELLP Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	22594569		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	30804016		★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	36626252	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	18658028	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	10577907, 11170895, 11170896, 12960213, 15634279, 15784724, 15816899, 16386793, 16889549, 17018561, 17076561, 17076562, 18006700, 18235085, 18252712, 18483746, 19005013, 19076829, 19422347, 19435718, 19459807, 19549636, 19861685, 19951285, 20723134, 21617085, 21868097, 21881555, 22019782, 22223611, 22494769, 22790979, 22894814, 23243267, 23772024, 23880784, 24005975, 24088957, 24671321, 25150608, 25188723, 25496981, 25538218, 25803806, 25925370, 26376859, 26703217, 26880823, 27799617, 28720077, 28750931, 29745120, 29778558, 30177469, 30595568, 30715674, 31719147, 32361709, 33519811, 33519821, 33777036, 34997957, 35398599, 35730179, 9551389	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	10215327, 10344366, 10577907, 11158219, 11170896, 11367530, 11429311, 11851332, 12020532, 12105394, 12391176, 12424708, 12440956, 12466119, 12697737, 12836093, 13680331, 14564205, 14566051, 14583443, 14615110, 14978182, 14986080, 15121049, 15140578, 15206027, 15696434, 15816899, 16281287, 16528247, 16575689, 16575691, 16889549, 16968692, 17018561, 17229916, 17495132, 17548524, 17593509, 18006700, 18070148, 18295065, 19005013, 19190803, 19190808, 19388158, 19388168, 19568827, 20145955, 20539230, 20714753, 20865639, 20865640, 21271273, 21649859, 21677636, 21902819, 22790979, 23399570, 23805269, 23884270, 24088957, 24131678, 24317278, 26386489, 26399238, 27378476, 28035470, 28057640, 28220235, 28946963, 29216383, 29420567, 29513070, 29582550, 30524124, 30560448, 30963282, 31064333, 31242818, 31290797, 3389894, 9260252, 9551389, 9641746, 9811382, 9848786		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	LHGDN	12424708, 16386793, 16470555, 16528247, 16889549, 17076561, 17599974, 17973958, 18235085, 18268093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytic Lymphohistiocytosis	BEFREE	28214269, 29113254		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	17995985	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24516350		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	24516350, 30073757	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	19098018		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	29096998	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18292760, 22848687	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18292760, 22848687, 24847905, 25402348, 31296141		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	18292760, 18725486		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	19716112, 20186852, 22523091, 23965743, 24114807, 24509080, 24634512, 25246303, 31293105		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	19716112, 20186852, 22523091, 23965743, 24114807, 25246303, 31293105		★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	28444561		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	29301248	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	31537562		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	26551678		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	15331938		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	18725486, 29067108		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	18725486, 29067108		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	1826409, 19162324, 20734203, 23072577, 24458077, 24586071, 25205734, 26825529, 26940089, 28637589, 28673452, 28814945, 28938951, 29114042, 29240274, 29241200, 29933843, 30141239, 30219152, 30838755		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	GWASCAT_DG	25305756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immune System Diseases	Immune System Diseases	BEFREE	17999207, 19388158		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35398599	Associate	★☆☆☆☆ Found in Text Mining only
Immunodeficiency with factor H anomaly	Immunodeficiency With Factor H Anomaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Immunoglobulin-mediated membranoproliferative glomerulonephritis	Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis	Orphanet			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	14978182		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20841369, 30320589		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	23029250		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19833879, 36293087	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	18292760, 21695352		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10975323, 14978182, 18070148, 18190458, 22120053, 22669321, 23204401, 26376859, 28012611, 28570715, 28729648, 29389016, 29858280, 29885865, 30025090, 30642982, 31524260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	19242507, 20723134, 20832153, 24885016, 25124117, 26376859, 28637589, 28729648, 34566977	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	GWASCAT_DG	21399633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	GWASDB_DG	21399633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	16760911, 25280590, 25758912, 28057640		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	16889549, 20738267, 23880784, 24586071, 29215813, 29907460, 37615951	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	34043214	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	17000000, 17084897, 20865640, 29389016, 30380547		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	12020532, 14986080, 15696434, 15800115, 19633317, 20865639, 21071971, 21688191, 23399570, 23431077, 23880784, 24586071, 29907460, 30804016, 31705748, 31705764		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	27706724	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	36033826	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	23500067		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	21685710	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	23423485, 25030427		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27473565, 35249471	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	29454310		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22065898, 29113254, 31506952		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	21503575		★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	31134052		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	29885865		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21637784, 24458077, 30170966, 33784485, 35398599	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	29885865		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21637784, 22171659, 22956549, 23508058, 24458077, 29494857, 29885865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus Nephritis	BEFREE	22171659, 22956549, 27068115, 29885865, 30975435		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus nephritis	Pubtator	36211394	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	29885865		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	11179007	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	22718493	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	15761122, 15870199, 15895326, 15930014, 16080115, 16300415, 16379025, 16518403, 16533809, 16541016, 16642439, 16774956, 16787919, 16885922, 16936733, 17050575, 17079491, 17167412, 17293598, 17314151, 17339482, 17360715, 17438673, 17464302, 17558024, 17631852, 17877809, 17995985, 18043728, 18162041, 18223247, 18252232, 18252712, 18292785, 18316707, 18461138, 18493315, 18538409, 18541031, 18596911, 18627465, 18682806, 18682812, 18704199, 18852870, 18936151, 18996904, 19027484, 19029036, 19043567, 19048105, 19074778, 19076829, 19077177, 19091853, 19169230, 19169411, 19202148, 19549636, 19661236, 19796758, 19806217, 19823576, 19845562, 19850925, 20042653, 20346514, 20378180, 20385819, 20626361, 20660596, 20723134, 20861866, 20876352, 20881291, 21106043, 21139680, 21169531, 21197116, 21232084, 21396937, 21402993, 21555552, 21633121, 21682878, 21729696, 21762495, 21825189, 21850184, 21855625, 21856016, 21878851, 21881555, 21906714, 22019782, 22022419, 22035603, 22065928, 22247456, 22293892, 22355348, 22481475, 22558131, 22694956, 22848687, 22848690, 22933840, 22965593, 22969267, 23112567, 23233260, 23302509, 23365078, 23365660, 23494043, 23497844, 23559864, 23577725, 23596508, 23687431, 23772024, 23840815, 23873044, 23922956, 23938121, 24036952, 24083687, 24265543, 24278416, 24346170, 24367156, 24453474, 24526414, 24550369, 24576882, 24608419, 24634144, 24675670, 24847005, 24863099, 24901472, 24906858, 24953792, 24974817, 25033836, 25074767, 25124117, 25188723, 25204844, 25277308, 25305316, 25340497, 25402348, 25655794, 25735482, 25742403, 25771815, 25786237, 25814824, 25814826, 25880396, 26045838, 26091360, 26152901, 26154559, 26171855, 26255974, 26312598, 26354764, 26376859, 26501415, 26542071, 26654980, 26705092, 26746578, 26765636, 26767664, 26854823, 26861912, 26961257, 26961928, 27099955, 27196323, 27225020, 27241480, 27257685, 27316788, 27376713, 27471039, 27502478, 27572114, 27647805, 27706724, 27832277, 27974306, 28108569, 28120909, 28228273, 28332910, 28859202, 28912512, 28926193, 29132549, 29311295, 29346644, 29367644, 29374201, 29398083, 29410599, 29529059, 29592796, 29596588, 29801032, 29844195, 29888403, 30089174, 30217822, 30389371, 30596689, 30616835, 30696427, 30820144, 30934838, 30996586, 31176916, 31554875, 31658355, 31731799, 31795454, 31861421, 31970928, 32034129, 32138827, 32246154, 32321835, 32587311, 32717343, 32762675, 32815311, 33253757, 33273512, 33320170, 33354892, 33369641, 33519811, 33595494, 33604378, 33900362, 33918210, 34233521, 34239032, 34260947, 34260948, 34445430, 34508573, 34563268, 34647987, 34911940, 35063911, 35113155, 35285476, 35398599, 35561216, 35630075, 35657810, 35805159, 35925583, 35930268, 36036675, 36379987, 36544284, 36643920, 36749597, 37089696, 37934784, 37975850, 38067097, 38383077, 39487449, 39643072, 39959171, 40593839	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macular degeneration	Macular Degeneration	BEFREE	18786923, 19019939, 20346514, 30616835		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macular Degeneration	Macular degeneration	Pubtator	21273533, 31267090	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macular Degeneration	Macular degeneration	Pubtator	27316788	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)	Age-related macular degeneration	CLINVAR_DG	12697737, 22019782, 24036949, 24498017, 25814826		★☆☆☆☆ Found in Text Mining only
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)	Age-related macular degeneration	UNIPROT_DG	22019782		★☆☆☆☆ Found in Text Mining only
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)	Age-related macular degeneration	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)	Age-related macular degeneration	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Macular dystrophy retinal 1 North Carolina type	Macular dystrophy	Pubtator	32476814	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	26941266, 29798743		★☆☆☆☆ Found in Text Mining only
Malattia Leventinese	Malattia Leventinese	ORPHANET_DG	18252232		★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	BEFREE	20734203, 24210589		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22094188		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	22689052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26723877, 29113254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21503575, 22197220, 27160908, 30987235		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29454310		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18465173, 22143536		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	20596604		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18465173, 22197220, 27160908, 27942748, 29113254		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18183578, 22689052		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	24378252		★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type I	Nephrotic syndrome	CTD_human_DG	14978182		★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type I	Nephrotic syndrome	ORPHANET_DG	21396679		★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type I	Nephrotic syndrome	BEFREE	26289290, 28729648		★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type II	Nephrotic syndrome	BEFREE	12466119, 16299065, 16612335, 16810287, 17420663, 17517971, 18224273, 18252712, 18340363, 19388168, 20385334, 21188423, 21270465, 21396679, 21881555, 22388616, 22456601, 24334459, 24338037, 26915021, 7985676		★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type II	Nephrotic syndrome	CTD_human_DG	14978182		★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type II	Nephrotic syndrome	ORPHANET_DG	22388616		★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type II	Nephrotic syndrome	GENOMICS_ENGLAND_DG	27458560		★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type III	Nephrotic syndrome	CTD_human_DG	14978182		★☆☆☆☆ Found in Text Mining only
Membranoproliferative Glomerulonephritis, Type III	Nephrotic syndrome	ORPHANET_DG	21396679		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	15331938		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	LHGDN	15331938		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	26342886, 29115597, 29798743		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	19833879		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	19833879	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19833879	Associate	★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	BEFREE	20734203, 24904082		★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33918210	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	7849699		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	25917093		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	28707765	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	29454310	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	31811102		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	31811102		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	29207079	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36849497	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20421219, 26186240, 29116612, 30972735		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	22354735	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	21683594, 22094483, 23965743		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	19716112, 23965743, 27911330, 28214269, 32993534, 35607917	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	24087791		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	19716112, 21932316, 23456229, 23500067, 23975679, 24365856, 24634512, 25274776, 26857240, 27409453		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	25695429		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16229850, 16630992, 17396242, 17472578, 17697822, 20305136		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	16630992		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	16630992	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	22094483, 23044792, 23489660, 26342832, 27443559		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	22094483, 27443559	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	18179888, 19181672, 19616434, 20186852, 20633900, 20874719, 21219870, 22053194, 22094483, 22523091, 22541254, 23489660, 23965743, 24021317, 24114807, 24634512, 25274776, 26342832, 26551678, 26933038, 27409453, 29521230, 29735270, 30083183, 30928807, 31836140		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	18179888, 19181672		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, Reducing Body, X-Linked, Childhood-Onset	Myopathy, Reducing Body, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe	Myopathy, Reducing Body, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	BEFREE	18179888, 18952429, 19687455, 21932316, 22053194, 22923418, 24634512, 25246303		★☆☆☆☆ Found in Text Mining only
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	UNIPROT_DG	18179888, 19687455, 19716112, 20186852		★☆☆☆☆ Found in Text Mining only
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	ORPHANET_DG	18179888		★☆☆☆☆ Found in Text Mining only
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	CLINVAR_DG	18179888, 19687455, 19716112, 22923418, 26857240		★☆☆☆☆ Found in Text Mining only
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	GENOMICS_ENGLAND_DG	19687455, 29926425		★☆☆☆☆ Found in Text Mining only
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	19680273, 22678500		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	26551678		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	17293598	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16452211, 16675914, 17442984, 18183578, 18465173, 18715798, 21503575, 22065898, 22143536, 22689052, 23938460, 25272045, 27160908, 29113254, 29434030, 30111766, 31130605		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	22171659, 30838755		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	24338037		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	32993534	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19540598, 22302353		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	32993534	Associate	★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	31708932		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Age-related macular degeneration	Age-related macular degeneration	Orphanet			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17442984, 19259664, 21503575, 31772674		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	23456229		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10023738, 19833879, 24287500		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19833879, 21947364, 24287500	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12402151, 27035765	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35142956	Associate	★☆☆☆☆ Found in Text Mining only
Panuveitis	Panuveitis	Pubtator	23497844	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	15920296	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	23402025, 26792457		★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	33918210	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	22371503		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35315933	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	37803932	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	28637589	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	28637589		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36293087, 40243681	Associate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	29494857		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Properdin deficiency disease	Properdin Deficiency	BEFREE	23204401		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18422756		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19197355, 21804603	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23009291	Inhibit	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	18627285		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30662676		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	24847905	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31632001, 36808722	Associate	★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	10215327, 10955922, 14583443, 16760911, 19640589, 20539230, 20644116, 23743117, 25280590, 25951460, 29222317, 29419916, 29582550, 29959568, 30039480, 30177429, 3389894		★☆☆☆☆ Found in Text Mining only
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET	Reducing body myopathy	UNIPROT_DG	18274675, 19171836, 19181672		★☆☆☆☆ Found in Text Mining only
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET	Reducing body myopathy	GENOMICS_ENGLAND_DG	29926425		★☆☆☆☆ Found in Text Mining only
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET	Reducing body myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET	Reducing body myopathy	UNIPROT_DG	18274675, 19171836, 19181672, 23169582		★☆☆☆☆ Found in Text Mining only
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET	Reducing body myopathy	GENOMICS_ENGLAND_DG	29926425, 7709723		★☆☆☆☆ Found in Text Mining only
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET	Reducing body myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Reducing-body myopathy	Reducing body myopathy	ORPHANET_DG	18274675		★☆☆☆☆ Found in Text Mining only
Reducing-body myopathy	Reducing body myopathy	BEFREE	18952429, 19181672, 19616434, 19687455, 20571991, 21683594, 21932316, 22541254, 23169582, 23965743, 23975679, 24634512, 25246303, 25274776, 27409453, 31204143, 31273321, 31803991		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	29521230		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	21566112, 21810760, 28570715		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	10955922, 31428128		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	33354892	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Detachment	Retinal detachment	Pubtator	30142373, 31988359, 33920794, 35925583	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal Diseases	BEFREE	19019939, 19388168, 19646183, 23864767, 28275964, 30711487		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	28228273	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Pigment Epithelial Detachment	Retinal Pigment Epithelial Detachment	BEFREE	21397333		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	18787502, 40084286	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	8566038		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10931160, 12780697, 14702193, 19567623, 2138120, 22059990, 22894814, 29521230		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	23497844	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scapuloperoneal myopathy	Scapuloperoneal myopathy	Pubtator	18179901, 20633900	Associate	★☆☆☆☆ Found in Text Mining only
Scapuloperoneal myopathy	Scapuloperoneal myopathy	BEFREE	18952429, 19687455, 20633900, 21932316, 24634512		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal myopathy	Scapuloperoneal myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	Scapuloperoneal Myopathy, X-Linked	ORPHANET_DG	18179901		★☆☆☆☆ Found in Text Mining only
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	Scapuloperoneal Myopathy, X-Linked	UNIPROT_DG	18179901, 27234031		★☆☆☆☆ Found in Text Mining only
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	Scapuloperoneal Myopathy, X-Linked	BEFREE	18952429		★☆☆☆☆ Found in Text Mining only
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	Scapuloperoneal Myopathy, X-Linked	GENOMICS_ENGLAND_DG	29926425		★☆☆☆☆ Found in Text Mining only
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	Scapuloperoneal Myopathy, X-Linked	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	Scapuloperoneal Myopathy, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28293111		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	39616737	Associate	★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	31795786		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	20730046	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	32361709	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	12643861, 19009024, 20351616, 21911026, 25758912, 29084837, 31525397		★☆☆☆☆ Found in Text Mining only
Serum Sickness	Serum Sickness	BEFREE	20702729		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	31708932	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	23938460	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	21503575		★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23321464		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29454310	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31253657	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	31253657		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	23938460		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26908444		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	31537562		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18465173, 22143536		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18465173		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	18268093, 23243267	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	29858280		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	17973958, 36626252	Associate	★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	12020532, 15685522, 15816899, 16549533, 16760911, 17619907, 17973958, 18215115, 19351878, 20865640, 22956549, 23814021, 25951460, 27918307, 28057640, 28178155, 28711077, 29582550, 30039480, 30177429, 30676336, 30711487, 30910380, 31229026		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	31795786		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	19633317		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	26941266		★☆☆☆☆ Found in Text Mining only
Uruguay Faciocardiomusculoskeletal Syndrome	Uruguay faciocardio-musculoskeletal syndrome	Pubtator	26933038	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	22876110, 23497844, 27419833	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	23966370, 27306586, 27419833		★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	22065918, 27419833	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Intermediate	Uveitis	Pubtator	22876110	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Posterior	Uveitis	Pubtator	22876110, 23497844, 38187376	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis, Posterior	Uveitis	BEFREE	22876110, 23497844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	22876110	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16229850		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	29136640	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	27939215, 30838755		★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	17464302, 18252232, 18627465, 20876352, 38282487	Associate	★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 1	von Willebrand disorder	BEFREE	28855217		★☆☆☆☆ Found in Text Mining only
Wet Macular Degeneration	Age-related macular degeneration	Pubtator	33946050	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
X-linked Emery-Dreifuss muscular dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	Orphanet			★☆☆☆☆ Found in Text Mining only
X-linked myopathy with postural muscle atrophy	Myopathy With Postural Muscle Atrophy, X-Linked	Orphanet			★☆☆☆☆ Found in Text Mining only
X-linked scapuloperoneal muscular dystrophy	Scapuloperoneal Muscular Dystrophy, X-Linked	Orphanet			★☆☆☆☆ Found in Text Mining only