HNF1B (HNF1 homeobox B)

Gene

• Entrez ID: 6928
• Gene name: HNF1 homeobox B
• Gene symbol: HNF1B
• Synonyms (NCBI Gene): ADTKD3, FJHN, HNF-1-beta, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, RCAD, T2D, TCF-2, TCF2, VHNF1
• Chromosome: 17
• Chromosome location: 17q12
• Summary: This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141166864	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant
rs764042837	G>-,GG	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs886041820	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555833071	TCGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555833144	C>-	Pathogenic	Stop gained, coding sequence variant
rs1598806177	->AGGGCTGC	Pathogenic	Frameshift variant, coding sequence variant, intron variant, genic downstream transcript variant
rs1598840773	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1598840795	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1598840996	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1598841082	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1598842886	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1598842892	CCC>-,CCCC	Pathogenic	Inframe deletion, frameshift variant, coding sequence variant
rs1598848672	CAGAGC>AGGGG	Pathogenic	Frameshift variant, coding sequence variant
rs1598848762	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1598854261	ATCCGGTCCACCTCCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598854747	->G	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024651	hsa-miR-215-5p	Microarray	19074876
MIRT026957	hsa-miR-192-5p	Microarray	19074876
MIRT755748	hsa-miR-217	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	35046625
MIRT1050546	hsa-miR-3157-5p	CLIP-seq
MIRT1050547	hsa-miR-3665	CLIP-seq
MIRT1050548	hsa-miR-378g	CLIP-seq
MIRT1050549	hsa-miR-4257	CLIP-seq
MIRT1050550	hsa-miR-4685-5p	CLIP-seq
MIRT1050551	hsa-miR-4690-3p	CLIP-seq
MIRT1050552	hsa-miR-4713-3p	CLIP-seq
MIRT1050553	hsa-miR-4749-3p	CLIP-seq
MIRT1050554	hsa-miR-520a-5p	CLIP-seq
MIRT1050555	hsa-miR-525-5p	CLIP-seq
MIRT1050556	hsa-miR-764	CLIP-seq
MIRT1050557	hsa-miR-181a	CLIP-seq
MIRT1050558	hsa-miR-181b	CLIP-seq
MIRT1050559	hsa-miR-181c	CLIP-seq
MIRT1050560	hsa-miR-181d	CLIP-seq
MIRT1050546	hsa-miR-3157-5p	CLIP-seq
MIRT1050561	hsa-miR-4262	CLIP-seq
MIRT1050550	hsa-miR-4685-5p	CLIP-seq
MIRT1050551	hsa-miR-4690-3p	CLIP-seq
MIRT1050553	hsa-miR-4749-3p	CLIP-seq
MIRT1050562	hsa-miR-603	CLIP-seq
MIRT2011608	hsa-miR-2115	CLIP-seq
MIRT2011609	hsa-miR-22	CLIP-seq
MIRT2011610	hsa-miR-2277-3p	CLIP-seq
MIRT2011611	hsa-miR-3977	CLIP-seq
MIRT2011612	hsa-miR-516a-3p	CLIP-seq
MIRT2011613	hsa-miR-876-3p	CLIP-seq
MIRT2011608	hsa-miR-2115	CLIP-seq
MIRT2243775	hsa-miR-24	CLIP-seq
MIRT2243776	hsa-miR-3129-3p	CLIP-seq
MIRT2011611	hsa-miR-3977	CLIP-seq
MIRT2243777	hsa-miR-4277	CLIP-seq
MIRT2243778	hsa-miR-4284	CLIP-seq
MIRT2011612	hsa-miR-516a-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	15509593
GO:0001714	Process	Endodermal cell fate specification	IEA
GO:0001822	Process	Kidney development	IDA	21281489
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	IMP	10720943, 16801329
GO:0001826	Process	Inner cell mass cell differentiation	IEA
GO:0001889	Process	Liver development	IEA
GO:0001889	Process	Liver development	IEA
GO:0003677	Function	DNA binding	IDA	1677179
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15509593, 16297991
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	1677179, 20211142, 21281489, 32296183, 33961781, 35140242
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15355349, 15509593
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0009749	Process	Response to glucose	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0031018	Process	Endocrine pancreas development	IMP	16801329
GO:0035565	Process	Regulation of pronephros size	IMP	15355349
GO:0039020	Process	Pronephric nephron tubule development	IGI	15355349
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	1677179
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	15509593, 16297991, 21281489
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048731	Process	System development	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048793	Process	Pronephros development	IMP	15355349
GO:0048806	Process	Genitalia development	IMP	16801329
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IDA	15355349
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0060429	Process	Epithelium development	IEA
GO:0060677	Process	Ureteric bud elongation	IEA
GO:0060993	Process	Kidney morphogenesis	IEA
GO:0061017	Process	Hepatoblast differentiation	IEA
GO:0061296	Process	Negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis	IEA
GO:0072095	Process	Regulation of branch elongation involved in ureteric bud branching	IEA
GO:0072164	Process	Mesonephric tubule development	IEA
GO:0072176	Process	Nephric duct development	IEA
GO:0072177	Process	Mesonephric duct development	IEA
GO:0072179	Process	Nephric duct formation	IEA
GO:0072181	Process	Mesonephric duct formation	IEA
GO:1900200	Process	Mesenchymal cell apoptotic process involved in metanephros development	IEA
GO:1900212	Process	Negative regulation of mesenchymal cell apoptotic process involved in metanephros development	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IEA

Other IDs

• MIM: 189907
• HGNC: 11630
• e!Ensembl: ENSG00000275410

Protein

• UniProt ID: P35680
• Protein name: Hepatocyte nuclear factor 1-beta (HNF-1-beta) (HNF-1B) (Homeoprotein LFB3) (Transcription factor 2) (TCF-2) (Variant hepatic nuclear factor 1) (vHNF1)
• Protein function: Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coa
• PDB: 2DA6, 2H8R, 5K9S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04814	HNF-1_N	8 → 174	Hepatocyte nuclear factor 1 (HNF-1), N terminus	Family
  PF04812	HNF-1B_C	314 → 550	Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus	Family

• Sequence:

  MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKP
  VFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWR
  AAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREIL
  RQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP
  ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWF
  ANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEI
  TSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIH
  SLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHS
  PHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHTSRFPSAMVVTDTSSI
  STLTNMSSSKQCPLQAW

• Sequence length: 557

Pathways

KEGG:

Maturity onset diabetes of the young

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
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Pathogenic	rs121918672	RCV001328308	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromophobe renal cell carcinoma	Pathogenic	rs587776771	RCV000013483	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital anomaly of kidney and urinary tract	Likely pathogenic; Pathogenic	rs121918674	RCV001328307	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HNF1B-related disorder	Pathogenic; Likely pathogenic	rs193922486, rs1568670479, rs2511701125, rs2511709958, rs2511808486, rs914046953, rs1568670481, rs2511801587, rs121918672, rs2511828535	RCV004753563 RCV003390678 RCV003402173 RCV003404563 RCV003982645 RCV004752990 RCV004753005 RCV003396364 RCV003411728 RCV003411729	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperechogenic kidneys	Likely pathogenic; Pathogenic	rs2511801868, rs1568670479, rs764561297	RCV003106062 RCV003106063 RCV003106163	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperuricemic nephropathy, familial juvenile type 3	Pathogenic	rs1555833071	RCV000515142	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maturity-onset diabetes of the young	Pathogenic; Likely pathogenic	rs193922486, rs886041820, rs121918672, rs121918675, rs1057517744, rs1057524479, rs1555833071, rs193922482, rs193922488, rs1555833144, rs1568670481, rs1598806177, rs1598809747, rs1598815016, rs1598840773, rs1598840795, rs2511801729, rs1598841082, rs1598842886, rs1598848672, rs1598854261, rs1598854747, rs1598840996, rs1598809697, rs2033692285, rs2033927631, rs2033928772, rs2034117925, rs2034124973, rs2032692897, rs2034113963	RCV002464978 RCV002464156 RCV004689416 RCV002051783 RCV002348127 RCV002464197 RCV002465696 RCV002464083 RCV002464087 RCV002465738 RCV002343589 RCV002465772 RCV002464315 RCV002464316 RCV002465773 RCV002465774 RCV004629323 RCV002465775 RCV002464317 RCV002464318 RCV002465776 RCV002465777 RCV002465804 RCV002464356 RCV002465856 RCV002464420 RCV002464422 RCV002465857 RCV002464421 RCV002464430 RCV002465859	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2147553451, rs2147473703, rs1800575, rs121918672, rs1568670479, rs121918675, rs2511830105, rs1057517744, rs193922489, rs1568670481, rs2511723972, rs2511801868, rs2511802259, rs121918674, rs2511850923, rs1555830002	RCV002492130 RCV002503424 RCV002496342 RCV002496343 RCV002504781 RCV002482860 RCV004796809 RCV005010306 RCV002477029 RCV002499296 RCV005012307 RCV002493434 RCV005021177 RCV002501024 RCV002501025 RCV002487620	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cysts and diabetes syndrome	Pathogenic; Likely pathogenic	rs2147457839, rs2147553451, rs2147473703, rs2147553490, rs2511849287, rs193922486, rs886043903, rs2511829328, rs1405279061, rs1057519371, rs2511801331, rs2511829635, rs1555830002, rs886041820, rs2511828229, rs121918674, rs1800575, rs121918671, rs121918672, rs1568645768, rs1568670479, rs121918675, rs587776771, rs2511830105, rs2511851224, rs2511829039, rs2511801622, rs2511828535, rs2511700721, rs2511852788, rs2511799864, rs2511802149, rs2511810127, rs2511829909, rs2511724129, rs1057517744, rs1057524479, rs529294719, rs1555833071, rs1555832998, rs193922482, rs193922488, rs193922489, rs193922490, rs1555833144, rs914046953, rs1568665590, rs1568665905, rs1568670481, rs1568670702, rs764042837, rs1568670533, rs768867418, rs2511696300, rs2511700116, rs772362107, rs1362937677, rs1598806177, rs2511700701, rs2511701024, rs2511701087, rs2511701093, rs2511701146, rs2511709655, rs2511709669, rs2511709863, rs1598809747, rs2511723592, rs1598815016, rs2147473623, rs2511723637, rs1357937176, rs2511723972, rs2147474151, rs2511724255, rs1598840773, rs2511800400, rs1598840795, rs2511800737, rs2511800778, rs2511800921, rs2511800990, rs2511801162, rs2511801219, rs1457574807, rs2511801375, rs2511801571, rs2511801587, rs2511801683, rs886043813, rs2511801729, rs2511801834, rs2511801868, rs2033693875, rs2511801962, rs2511802034, rs1598841082, rs2511802259, rs2511802320, rs2511802356, rs2511808395, rs2511808449, rs2511808635, rs2511808673, rs2511808834, rs2511808889, rs2511808998, rs2511809016, rs1598842886, rs1598842892, rs2511809149, rs2511809161, rs2033751993, rs867882536, rs2511828073, rs2511828138, rs2511828153, rs925595786, rs2511828400, rs1598848672, rs2511828597, rs2511828657, rs2511828716, rs2511828732, rs2511828837, rs2511828892, rs2511828963, rs2484886000, rs2511828996, rs2511829055, rs2511829092, rs2511829137, rs2511829158, rs2511829341, rs2511829359, rs2511829513, rs2511829602, rs2511829671, rs2511829685, rs2147575564, rs2511829901, rs2511830005, rs2511830029, rs2511849369, rs1598854261, rs953274911, rs894213416, rs2511849648, rs2511850184, rs2511850271, rs2147598858, rs2511850638, rs2511850713, rs2511850885, rs2511850923, rs2511851192, rs2511851289, rs2511851366, rs2511852099, rs1598854747, rs2511853093, rs2511853681, rs2511853757, rs2511669991, rs2511709473, rs2511723225, rs2511723229, rs2511724279, rs2511724285, rs2511799967, rs1333784125, rs2033925649, rs2511827898, rs2511827924, rs2511827914, rs2511849321, rs1598840996, rs1598809697, rs2033692285, rs2033927631, rs2032559501, rs2033928772, rs2034117925, rs2034124973, rs2032692897, rs2034113963	RCV001849655 RCV002492130 RCV002503424 RCV002221391 RCV003225990 RCV005429081 RCV002471376 RCV002470589 RCV002776551 RCV000416588 RCV002790016 RCV003148509 RCV000787141 RCV000787216 RCV003333391 RCV003335835 RCV000013470 RCV000013473 RCV000013475 RCV000013477 RCV000013478 RCV000013479 RCV000013480 RCV000013482 RCV000787258 RCV003444161 RCV003454377 RCV003991117 RCV003991326 RCV004546894 RCV004545964 RCV004566437 RCV004566439 RCV004566475 RCV004555310 RCV004555333 RCV004595179 RCV004595346 RCV000787179 RCV000787057 RCV000787150 RCV000787243 RCV000787228 RCV000030520 RCV000030526 RCV000030529 RCV000030530 RCV000030531 RCV000625564 RCV000787129 RCV000787144 RCV000787168 RCV001281137 RCV000787211 RCV005414331 RCV000787187 RCV000787054 RCV000787058 RCV000787060 RCV000787061 RCV000787062 RCV000787065 RCV000787066 RCV000787067 RCV000787069 RCV000787070 RCV000787071 RCV000787072 RCV000787076 RCV000787077 RCV000787078 RCV000787079 RCV000787080 RCV000787087 RCV000787086 RCV000787088 RCV000787089 RCV000787090 RCV000787093 RCV000787094 RCV000787096 RCV000787101 RCV000787102 RCV000787103 RCV000787106 RCV000787107 RCV000787108 RCV000787109 RCV000787110 RCV000787112 RCV000787113 RCV000787115 RCV000787116 RCV000787117 RCV000787118 RCV000787119 RCV000787120 RCV000991307 RCV000787123 RCV000787124 RCV000787125 RCV000787126 RCV000787127 RCV000787130 RCV000787131 RCV000787132 RCV000787134 RCV000787133 RCV000787136 RCV000787137 RCV000787138 RCV000787143 RCV000787145 RCV000787148 RCV000787149 RCV000787151 RCV000787152 RCV000787153 RCV000787154 RCV000787156 RCV000787263 RCV000787157 RCV000787158 RCV000787159 RCV000787160 RCV000787161 RCV000787165 RCV000787180 RCV000787182 RCV000787183 RCV000787184 RCV000787186 RCV001281136 RCV000787190 RCV000787192 RCV000787194 RCV001281301 RCV000787196 RCV000787197 RCV000787198 RCV000787199 RCV000787202 RCV000787203 RCV000787200 RCV000787204 RCV000787205 RCV000787206 RCV000787207 RCV000787208 RCV001281300 RCV000787212 RCV000787213 RCV000787214 RCV000787215 RCV000787217 RCV000787218 RCV000787219 RCV000787220 RCV000787221 RCV000787222 RCV000787223 RCV000787224 RCV000787230 RCV000787231 RCV000787232 RCV000787233 RCV000787234 RCV000787237 RCV000787238 RCV000787236 RCV000787239 RCV000787240 RCV000787242 RCV000787244 RCV000787247 RCV000787248 RCV000787250 RCV000787249 RCV000787255 RCV000787257 RCV000787260 RCV000787261 RCV000787262 RCV000787053 RCV000787073 RCV000787083 RCV000787084 RCV000787082 RCV000787085 RCV000787097 RCV000787098 RCV000787099 RCV000787139 RCV000787142 RCV001280821 RCV000787171 RCV000787173 RCV000787172 RCV000787176 RCV000787226 RCV000787227 RCV000853505 RCV001004893 RCV001281138 RCV001281135 RCV001281298 RCV001251492 RCV001251471 RCV001251467 RCV001258111 RCV001262003	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type 2 diabetes mellitus	Likely pathogenic; Pathogenic	rs2147553451, rs2147473703, rs193922486, rs1800575, rs121918672, rs1568670479, rs121918675, rs2511830105, rs1057517744, rs193922489, rs1568670481, rs2511723972, rs2511801868, rs2511802259, rs1598842892, rs121918674, rs2511850923, rs1555830002	RCV002492130 RCV002503424 RCV005429081 RCV002496342 RCV002496343 RCV002504781 RCV002466400 RCV004796809 RCV005010306 RCV002477029 RCV002499296 RCV005012307 RCV002493434 RCV005021177 RCV003884728 RCV002501024 RCV001029833 RCV002487620	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
17Q12 MICRODELETION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant polycystic liver disease	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL MULTICYSTIC DYSPLASTIC KIDNEY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL RENAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NONINSULIN-DEPENDENT	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PROSTATE CANCER	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GIANT CELL TUMOR OF TENDON SHEATH	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY ONSET DIABETES MELLITUS IN YOUNG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Uncertain risk allele	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CLEAR CELL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN MUCINOUS ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC DUCTAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERMANENT NEONATAL DIABETES MELLITUS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT NEONATAL DIABETES MELLITUS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSITORY NEONATAL DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNILATERAL MULTICYSTIC DYSPLASTIC KIDNEY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNILATERAL MULTICYSTIC RENAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNILATERAL RENAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
17q12 microdeletion syndrome	17q12 Deletion Syndrome	BEFREE	22178801, 25324567, 31391355, 31498910		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
17q12 microdeletion syndrome	17q12 Deletion Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
2,8-Dihydroxyadenine Urolithiasis	2,8-Dihydroxyadenine Urolithiasis	BEFREE	24961278		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29664741		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	26574638		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	24040285, 31361605		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	21438902, 31570790		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	17001320		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	11085914	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27520560		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	29574432		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21055719, 36700567	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21055719		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20587423		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant primary hypomagnesemia with hypocalciuria	Hypomagnesemia With Hypocalciuria	Orphanet			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	15067314, 26139440		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	LHGDN	15647252		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	7734326	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	GWASCAT_DG	30410027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral multicystic dysplastic kidney	Bilateral Multicystic Dysplastic Kidney	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral Multicystic Dysplastic Kidneys	Bilateral Multicystic Dysplastic Kidney	ORPHANET_DG	20155289, 23725647		★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile duct disease	Pubtator	28324003, 30250217	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	29406331		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	40366121	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	21931375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis	Blepharophimosis	BEFREE	15450400, 19592504		★☆☆☆☆ Found in Text Mining only
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	BEFREE	24030029		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26311117	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	19250546, 30457165	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	18846391, 20378641, 23539225, 24429398, 26489027, 27297286, 27657687, 28440405, 33942272	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	20155289, 20378641, 23539225, 25500806, 26489027, 26899772, 27297286, 31131422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	26311117, 32873863	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15649945, 24040285, 26685938, 31361605		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	21438902	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	37713813	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	18536653	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23203386, 26311117, 34086854, 36572455, 8288579	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23535649, 23535730	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27520560, 34031415	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	10720943, 14633622, 16258507, 21438902, 22977660, 23535649, 24023729, 24040285, 24115587, 29910688, 31361605, 32488808, 32561848, 33051485, 33850477, 36681680	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18536653	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25884453, 37443495	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	26685938, 30592289		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12566316, 23535649, 24968817, 27732966, 28214017, 28241454, 30448218, 31318683		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	25510704		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	25510704	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31860786	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	25754277	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	27280413, 34086854	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choledochal Cyst	Choledochal Cyst	BEFREE	28324003, 28940454		★☆☆☆☆ Found in Text Mining only
Choledochal Cyst	Cholecystolithiasis	Pubtator	28324003	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG	22706971		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	25741167		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	28807937		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHROMOSOME 17q12 DELETION SYNDROME	17q12 Deletion Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	BEFREE	14569098		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	12478351, 26555949		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	12478351, 16971658, 21903317, 24387224, 26555949, 30809662		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	16971658		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clear cell adenocarcinoma of ovary	Ovarian adenocarcinoma	GWASCAT_DG	28346442		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	26574638, 29974846		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	10667431		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	39738645	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27697726		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	26005051		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32488808, 39738645	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	27297286, 28324003	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	25581748		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of vas deferens	Absent vas deferens	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	16371430, 23539225, 29574432, 31498910		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	29406331		★☆☆☆☆ Found in Text Mining only
Congenital atresia of vas deferens	Congenital Atresia Of Vas Deferens	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	34086854	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	BEFREE	25536396, 26946416		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	BEFREE	23600988, 25741167, 26876668, 27297286, 30809662		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital thrombotic disease due to Protein C deficiency	Congenital thrombotic thrombocytopenic purpura	Pubtator	36511816	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10326868, 17001320, 17133269, 20538322, 26574638		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	GENOMICS_ENGLAND_DG	15085338		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	31500578	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	LHGDN	12148114		★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	12478351, 29961928, 31498910, 31712448, 31825128		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	22178801, 25425496, 29961928, 31712448		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	12675839, 30021660	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	15930087, 25700310		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10720943, 10721673, 12161522, 12911528, 15085338, 15660195, 15930087, 16556760, 17878605, 17923767, 18037103, 18593771, 19324937, 19417042, 19639018, 19998368, 20367310, 22260488, 22432796, 22587559, 22641569, 23193118, 23979948, 25441779, 25741167, 26160100, 26319241, 26340261, 26899772, 27615128, 28324003, 28420700, 29093331, 29207974, 29764441, 30021660, 30094008, 31188030, 31391355, 9839108		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10720943, 10721673, 11463573, 12161522, 12911528, 15085338, 15660195, 15930087, 16556760, 17878605, 17923767, 18037103, 18593771, 19324937, 19417042, 19639018, 19998368, 20367310, 22260488, 22432796, 22587559, 22641569, 23193118, 23979948, 25441779, 25741167, 25754277, 26160100, 26319241, 26340261, 26899772, 27615128, 28324003, 28420700, 29093331, 29207974, 29764441, 30021660, 30094008, 31188030, 31391355, 9839108		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus	Diabetes mellitus	Pubtator	10720943, 11085914, 11918730, 12675839, 12911528, 15930087, 17924661, 19324937, 19627283, 19844256, 19998368, 20378641, 21380624, 25754277, 27271189, 28324003, 29207974, 29491316, 29574432, 29764441, 30021660, 30365659, 30457165, 31066763, 31291970, 31825128, 31860786, 34450036, 34789499, 35346144, 35899569, 36109160, 36208030, 36418577, 37016461, 37033247, 38408297, 38575066, 39337310, 39814389, 40013955	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	31441606	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	29764441, 36418577	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	10224045, 10720943, 12675839, 15930087, 16936201, 17924346, 18426861, 19168595, 19324937, 19558691, 19844256, 20161779, 20509872, 20526366, 20644627, 21421807, 21499250, 22086326, 22961080, 23193118, 23300827, 23306198, 24280871, 24376643, 24786909, 24953961, 25378557, 25700310, 25754277, 26287533, 26329304, 26599349, 27281091, 29491316, 29574432, 30259503, 30365659, 31066763, 31123324, 31825128, 31869513, 32329795, 32756155, 33046911, 33526762, 34462253, 34746319, 35179657, 35235779, 35592779, 36208030, 36383636, 36637968, 37052076, 38575066, 39191897, 39337310, 39388351, 39420905, 40303944	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21700917, 24608439, 30535056		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11058894, 11668623, 12012276, 12161522, 16917892, 17603485, 18332101, 18696045, 19168595, 19324937, 20509872, 20526366, 21421807, 21499250, 21700917, 21767339, 22086326, 23300827, 24280871, 24376643, 25378557, 26329304, 26599349, 27281091, 29406598, 29574432, 30535056, 31123324, 9839108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	11668623, 11845238, 12012276, 15522234, 15660195, 17327436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	UNIPROT_DG	12161522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG	15085338, 15930087, 19389850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	17603485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	21874001, 22325160, 22885922, 22961080, 24509480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	22885922, 22961080, 24509480, 26818947, 28869590, 30054458, 30595370, 30718926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	GENOMICS_ENGLAND_DG	15930087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Ketoacidosis	Diabetic ketoacidosis	Pubtator	34931465, 35992134	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	29764441	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	12012276, 28502589, 29764441		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	14583183		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	35992134	Associate	★☆☆☆☆ Found in Text Mining only
Diaphanospondylodysostosis	Diaphanospondylodysostosis	Pubtator	29910688	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	BEFREE	25256560		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21499250, 22299039, 25378557, 25885815, 26030369, 30053805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	GWASDB_DG	21499250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	27008869, 27135401, 30093612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	GWASCAT_DG	21499250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21499250, 22299039, 24096698, 25378557, 25885815, 26030369	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	BEFREE	25378557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	31022415		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	16258507, 22977660, 26030369, 32802844	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	21167248, 26030369, 28214017, 31322170		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	31056860		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23535649, 31318683		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	GWASCAT_DG	25581431		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	21540130		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	21767339		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	24961278		★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	22034641	Associate	★☆☆☆☆ Found in Text Mining only
Familial prostate cancer	Prostate Cancer	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	28942246		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	31096240		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman syndrome	Pubtator	34607911, 36759045	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28219405	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	31096240	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	19389850, 22583611, 26022541, 34607911	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	LHGDN	12675839		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	12675839, 15930087	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	25754277	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Types I and II	Hereditary angioedema	Pubtator	22299039	Associate	★☆☆☆☆ Found in Text Mining only
HNF1B-related autosomal dominant tubulointerstitial kidney disease	Tubulointerstitial Kidney Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	25754277	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	19324937, 21421807, 31066763	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	30365659	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	23979948		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	31500578	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	LHGDN	12675839		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	12675839, 20378641	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	14570709, 21903317		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperuricemic Nephropathy, Familial Juvenile 1	Hyperuricemic Nephropathy	BEFREE	14569098, 14570709, 18846391, 20976470		★☆☆☆☆ Found in Text Mining only
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3	HYPERURICEMIC NEPHROPATHY	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	Pubtator	35456451	Associate	★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	BEFREE	19389850, 26340261, 28440405		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	ORPHANET_DG	19389850		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	11918730	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37713813	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	17332483		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	29851704	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25425496		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	25754277	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24487052		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27218255	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	34997048	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	10720943, 11085914, 11918730, 12911528, 15930087, 17878605, 17924346, 17924661, 18846391, 20378641, 22583611, 23159250, 25700310, 26022541, 27234567, 29491316, 29764441, 30021660, 30599104, 31096240, 31481685, 31825128, 32756155, 33051485, 33713542, 34632641, 34997048, 36408280, 37737534, 39337310, 39388351, 39814389	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	11668623, 12012276, 12148114, 15930087, 16801329, 20378641, 21775974, 22269832, 22587559, 24387224, 24961278, 25324567, 25536396, 26160100, 26319241, 26946416, 27234567, 28420700, 29735694, 29961928, 30021660, 30094008, 30666461, 31825128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	35038894	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases Cystic	Kidney disease	Pubtator	11085914, 11918730, 12675839, 19844256, 28324003, 31825128, 36573973	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	35899569	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	14569098, 14570709, 20378641, 25700310, 29735694		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	10720943, 12911528	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	23704921		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	12478351, 26555949		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	15649945		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33051485, 38575066, 40013955	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipomatosis	Lipomatosis	BEFREE	22124438		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple Symmetrical	Lipomatosis	BEFREE	22124438		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28684878, 30356299, 30525249, 9614379		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27389722	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34721285	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24115587, 30894353	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21499250, 22299039, 25378557, 25885815, 30053805		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28684878		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12566316, 16479257, 23535649, 24968817, 27732966, 28214017, 28241454		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	GWASDB_DG	23535730		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29422604		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17603485, 18696045, 18758462, 19998368, 20203524, 20526366, 20569440, 21459759, 21499250, 21576123, 21982019, 23193118, 23464444, 23661456, 26214421, 27732966, 30655870, 31636385		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	18264096, 18264097, 19767753, 20676098		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	18264096, 18758462		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19998368, 20526366, 21576123, 23269662, 24105991, 24968817, 25378557, 26520442, 28684878, 29869165, 30053805, 30394265, 31038395		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	10417964, 10484768, 10720943, 11058894, 11463573, 11731484, 12148114, 14583183, 15001636, 16249435, 16801329, 16837621, 16917892, 17923767, 19417042, 21521318, 21700917, 21767339, 21775974, 22260488, 22587559, 23600988, 24204001, 25741167, 26319241, 27323672, 28215227, 28502589, 28912863, 29417725, 29561186, 31098941, 31109344, 31391355, 9839108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medullary cystic kidney disease 1	Medullary Cystic Kidney Disease	BEFREE	12832729, 16883323		★☆☆☆☆ Found in Text Mining only
Medullary Cystic Kidney Disease Type 2	Medullary Cystic Kidney Disease	BEFREE	14569098		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27234567		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28285191		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	30365659	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25754277	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26599349		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	31636385		★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	BEFREE	25754277, 31291970, 31825128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	BEFREE	16801329, 23725647, 24382792		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic dysplastic kidney	Pubtator	17924346, 37052076	Associate	★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MULTICYSTIC RENAL DYSPLASIA, BILATERAL	Multicystic renal dysplasia	ORPHANET_DG	20155289, 23725647		★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	BEFREE	28912863		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	29574432	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	17116179, 26876668		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10326868, 15649945, 19487294, 20538322, 21982019, 22299039, 24040285, 25885815, 26520442, 26592447, 26685938, 27697726, 27732966, 29974846, 30394265, 31570790, 31636385, 7734326		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	12832729, 20378641		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	20378641		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	31038395		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	14570709		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27234567, 30021660		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29764441	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31209268		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	12566316		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	14633622, 24105991, 25620176, 26030369, 26520442, 29707125, 30109783, 30525249, 31022415		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	22977660	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	15450400, 24030029		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16297991, 16479257, 17503391		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23535649, 24968817, 27732966, 28214017, 28241454, 28278050		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	23535730, 27197191, 28346442		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	14633622, 17270029, 19048126, 21131918, 23535649, 23535730, 24040285, 25884453, 26030369, 26318292, 26339401, 26910837, 26945423, 27732966, 28241454, 30109783, 32561848, 32635925	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16258507	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	27197191, 28346442		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29422604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	29422604, 30541042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	26592447		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20378641, 36511816	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	Pubtator	15930087, 26022541, 26876668, 27297286, 29491316, 30778115, 31825128, 33526762, 34450036, 37052076	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	29511557		★☆☆☆☆ Found in Text Mining only
Papillary cystadenoma of the epididymis	Papillary cystadenoma of the epididymis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	17001320		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Recessive	Polycystic kidney disease	Pubtator	33942272	Associate	★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	26139440		★☆☆☆☆ Found in Text Mining only
Polycystic kidney disease, type 2	Polycystic kidney disease	BEFREE	22641569		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	15029248		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	22269832, 31056860, 35179657	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	18037103, 26319241, 26946416		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	18037103		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	15450400, 24030029		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	ORPHANET_DG	18701471		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17603485, 18696045, 18758462, 19998368, 20203524, 20526366, 20569440, 21459759, 21499250, 21576123, 21982019, 23193118, 23464444, 23661456, 26214421, 27732966, 30655870, 31636385		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	17603485, 18264096, 18264097, 19767753, 20676098, 24740154, 25939597, 26034056, 26443449, 27197191, 27262462, 29892016, 30410027, 31562322		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11798061, 18701471, 18758462, 19318432, 19558691, 19627283, 19998368, 20203524, 20526366, 20569440, 20651075, 21160077, 21499250, 21538423, 21576123, 21959049, 22086326, 22144497, 22730461, 23193118, 23464444, 23661456, 23937305, 26773531, 27732966, 28380453, 31636385, 32800727, 34997048, 35741800, 36443337	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15067324, 17603485, 18758462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	18264096, 18758462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33174391	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prune Belly Syndrome	Prune belly syndrome	BEFREE	20175044		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10326868, 17001320, 17133269, 20538322, 28807937		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	UNIPROT_DG	10484768, 10672455, 11845238, 11918730, 14583183, 15001636, 15068978, 15181075, 15930087, 16249435		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	CLINVAR_DG	11085914, 11317673, 11562418, 12148114, 12161522, 12675839, 15068978, 15181075, 15509593, 15660195, 15930087, 16249435, 16371430, 17878605, 19389850, 20378641, 21380624, 24429398, 24897035, 25441779, 25500806, 25536396, 25700310, 26319241, 26417411, 26669242, 27234567, 27657687, 29207974, 29927023, 30259503, 9398836		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cysts and diabetes syndrome	Renal cysts and diabetes syndrome	Pubtator	11085914, 12911528, 15930087, 17878605, 20378641, 21055719, 21775974, 22432796, 25360493, 25700310, 27297286, 29491316, 29574432, 30778115, 31391355, 32461507, 32756155, 33526762, 34359001, 34931465, 35179657, 35240056, 35346144, 35992134, 37016461, 37737534, 39337310	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	BEFREE	12012276, 12478351, 15001636, 15067314, 15085338, 15520459, 16249435, 16371430, 16801329, 16971658, 17440011, 17603485, 17828387, 17878605, 20175044, 20378641, 20890685, 21055719, 21521318, 21767339, 22587559, 24487052, 24897035, 25700310, 25741167, 26160100, 29574432, 30032214, 30778115, 31131422, 31391355		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	CLINGEN_DG	12161522, 15068978, 15142986, 15668393, 16837621, 20378641, 23715323, 24309898, 25441779, 25705165, 25754277, 26876668, 27059371, 9398836		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	GENOMICS_ENGLAND_DG	15085338, 15181075, 15930087, 19389850, 27234911		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	ORPHANET_DG	21844708, 22498247		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	BEFREE	24961278		★☆☆☆☆ Found in Text Mining only
Renal dysplasia, bilateral	Renal dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal dysplasia, unilateral	Renal dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	10720943, 22051731, 7921753		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28737528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia Spectrum and Other Psychotic Disorders	Schizophrenia	Pubtator	28737528	Associate	★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	11918730, 27297286, 32756155	Associate	★☆☆☆☆ Found in Text Mining only
SeSAME syndrome	SeSAME Syndrome	BEFREE	19812536		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spermatocele	Spermatocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	25754277	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29169318		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28942246		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29851704	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subcortical cerebral atrophy	Subcortical cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASCAT_DG	25877299, 28604728, 28604732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	32561848	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	24040285	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	15486044, 16676400, 18399756		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	23729738, 28973399		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30070340		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	25536396		★☆☆☆☆ Found in Text Mining only
Unilateral Multicystic Dysplastic Kidney	Unilateral Multicystic Dysplastic Kidney	BEFREE	20155289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unilateral Multicystic Dysplastic Kidney	Unilateral Multicystic Dysplastic Kidney	ORPHANET_DG	20155289, 23725647		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unilateral multicystic dysplastic kidney	Unilateral Multicystic Dysplastic Kidney	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ureterocele	Ureterocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	28440405	Associate	★☆☆☆☆ Found in Text Mining only
Urofacial syndrome	Urofacial syndrome	Pubtator	25754277	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	12911528, 27297286	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	14583183		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	26574638		★☆☆☆☆ Found in Text Mining only
Usher syndrome type 1B	Usher syndrome	Pubtator	37737534	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	BEFREE	15930087		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25884453	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	11918730, 15930087	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	32461507	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	24040285	Stimulate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	31860786	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	17001320		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	28424317		★☆☆☆☆ Found in Text Mining only