PLA2G6 (phospholipase A2 group VI)

Gene

• Entrez ID: 8398
• Gene name: Phospholipase A2 group VI
• Gene symbol: PLA2G6
• Synonyms (NCBI Gene): CaI-PLA2, GVI, INAD1, IPLA2-VIA, NBIA2, NBIA2A, NBIA2B, PARK14, PLA2, PNPLA9, iPLA2, iPLA2beta
• Chromosome: 22
• Chromosome location: 22q13.1
• Summary: The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostagland

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908681	T>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908682	A>T	Pathogenic	Coding sequence variant, missense variant
rs121908683	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908685	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs141045127	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs141825182	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs147455037	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs149712244	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199935023	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs200075782	G>A,C	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs368497893	C>T	Pathogenic	Coding sequence variant, synonymous variant
rs370288820	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs370691849	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs374746113	A>G	Likely-pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs387906863	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs387906864	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs528966598	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs535486098	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs547175863	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587784326	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587784327	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs587784329	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs587784330	A>T	Pathogenic	Coding sequence variant, missense variant
rs587784331	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587784332	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs587784333	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587784336	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587784337	C>T	Pathogenic	Coding sequence variant, missense variant
rs587784338	G>A	Pathogenic	Coding sequence variant, missense variant
rs587784339	G>A	Pathogenic	Coding sequence variant, stop gained
rs587784340	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs587784341	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587784343	AAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs587784346	G>A	Pathogenic	Coding sequence variant, stop gained
rs587784347	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587784355	A>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs587784356	G>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs587784357	G>A	Pathogenic	Synonymous variant, coding sequence variant, 5 prime UTR variant, stop gained
rs587784359	G>A	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs587784360	CGAGCATTGCAC>-	Likely-pathogenic	Inframe deletion, intron variant, coding sequence variant
rs587784361	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs587784362	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs587784363	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs587784364	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730882214	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs745643715	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs750939090	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs761815070	C>A,T	Likely-pathogenic	Splice donor variant
rs764959600	C>A,T	Pathogenic	Missense variant, initiator codon variant, 5 prime UTR variant
rs774631197	G>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant, 5 prime UTR variant
rs776713955	C>T	Pathogenic	Missense variant, coding sequence variant
rs794729212	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs797044903	TTGGCCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045888	T>C	Pathogenic	Splice acceptor variant
rs797045889	->CGG	Likely-pathogenic	Coding sequence variant, inframe insertion
rs886039552	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1025497590	C>G,T	Pathogenic	Splice acceptor variant
rs1057521104	A>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1060499764	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795344	T>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1064796469	C>G	Likely-pathogenic	Intron variant
rs1175689296	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1177564212	C>G,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1282370486	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1356679312	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1416924105	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1451486649	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1465629909	T>G	Pathogenic	Splice acceptor variant
rs1477656610	C>T	Pathogenic	Intron variant, splice acceptor variant
rs1555978219	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555979401	C>G	Likely-pathogenic	Splice acceptor variant
rs1555988204	->GC	Pathogenic	Coding sequence variant, frameshift variant
rs1555988382	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1556010444	C>G	Pathogenic	Missense variant, coding sequence variant
rs1556032708	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1569243565	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569243771	G>-	Pathogenic	Intron variant
rs1569264087	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1602057157	T>C	Pathogenic	Splice acceptor variant
rs1602088419	A>C	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1238850	hsa-miR-1275	CLIP-seq
MIRT1238851	hsa-miR-3160-3p	CLIP-seq
MIRT1238852	hsa-miR-409-3p	CLIP-seq
MIRT1238853	hsa-miR-4487	CLIP-seq
MIRT1238854	hsa-miR-4525	CLIP-seq
MIRT1238855	hsa-miR-4665-5p	CLIP-seq
MIRT1238856	hsa-miR-4723-5p	CLIP-seq
MIRT1238857	hsa-miR-558	CLIP-seq
MIRT1238858	hsa-miR-625	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003847	Function	1-alkyl-2-acetylglycerophosphocholine esterase activity	ISS
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IDA	20886109
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IEA
GO:0004623	Function	Phospholipase A2 activity	IEA
GO:0004623	Function	Phospholipase A2 activity	TAS	9417066
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005615	Component	Extracellular space	IDA	18714013
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	38322995
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006935	Process	Chemotaxis	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016787	Function	Hydrolase activity	TAS
GO:0017171	Function	Serine hydrolase activity	IEA
GO:0019731	Process	Antibacterial humoral response	IDA	18714013
GO:0031143	Component	Pseudopodium	IEA
GO:0034638	Process	Phosphatidylcholine catabolic process	IDA	20886109
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISS
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IBA
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IDA	23152787
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IDA	23533611
GO:0035965	Process	Cardiolipin acyl-chain remodeling	TAS	38322995
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042995	Component	Cell projection	IEA
GO:0046338	Process	Phosphatidylethanolamine catabolic process	ISS
GO:0046469	Process	Platelet activating factor metabolic process	ISS
GO:0046473	Process	Phosphatidic acid metabolic process	ISS
GO:0047499	Function	Calcium-independent phospholipase A2 activity	IBA
GO:0047499	Function	Calcium-independent phospholipase A2 activity	IDA	15908428, 20886109, 23533611
GO:0047499	Function	Calcium-independent phospholipase A2 activity	IEA
GO:0052816	Function	Long-chain fatty acyl-CoA hydrolase activity	IBA
GO:0052816	Function	Long-chain fatty acyl-CoA hydrolase activity	IDA	20886109
GO:0052816	Function	Long-chain fatty acyl-CoA hydrolase activity	IEA
GO:2000304	Process	Positive regulation of ceramide biosynthetic process	IBA

Other IDs

• MIM: 603604
• HGNC: 9039
• e!Ensembl: ENSG00000184381

Protein

• UniProt ID: O60733
• Protein name: 85/88 kDa calcium-independent phospholipase A2 (CaI-PLA2) (EC 3.1.1.4) (2-lysophosphatidylcholine acylhydrolase) (EC 3.1.1.5) (Group VI phospholipase A2) (GVI PLA2) (Intracellular membrane-associated calcium-independent phospholipase A2 beta) (iPLA2-beta)
• Protein function: Calcium-independent phospholipase involved in phospholipid remodeling with implications in cellular membrane homeostasis, mitochondrial integrity and signal transduction. Hydrolyzes the ester bond of the fatty acyl group attached at sn-1 or sn-2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00023	Ank	151 → 181	Ankyrin repeat	Repeat
  PF00023	Ank	219 → 250	Ankyrin repeat	Repeat
  PF00023	Ank	316 → 348	Ankyrin repeat	Repeat
  PF00023	Ank	349 → 381	Ankyrin repeat	Repeat
  PF01734	Patatin	481 → 665	Patatin-like phospholipase	Family

• Tissue specificity: TISSUE SPECIFICITY: Four different transcripts were found to be expressed in a distinct tissue distribution.
• Sequence:

  MQFFGRLVNTFSGVTNLFSNPFRVKEVAVADYTSSDRVREEGQLILFQNTPNRTWDCVLV
  NPRNSQSGFRLFQLELEADALVNFHQYSSQLLPFYESSPQVLHTEVLQHLTDLIRNHPSW
  SVAHLAVELGIRECFHHSRIISCANCAENEEGCTPLHLACRKGDGEILVELVQYCHTQMD
  VTDYKGETVFHYAVQGDNSQVLQLLGRNAVAGLNQVNNQGLTPLHLACQLGKQEMVRVLL
  LCNARCNIMGPNGYPIHSAMKFSQKGCAEMIISMDSSQIHSKDPRYGASPLHWAKNAEMA
  RMLLKRGCNVNSTSSAGNTALHVAVMRNRFDCAIVLLTHGANADARGEHGNTPLHLAMSK
  DNVEMIKALIVFGAEVDTPNDFGETPTFLASKIGRLVTRKAILTLLRTVGAEYCFPPIHG
  VPAEQGSAAPHHPFSLERAQPPPISLNNLELQDLMHISRARKPAFILGSMRDEKRTHDHL
  LCLDGGGVKGLIIIQLLIAIEKASGVATKDLFDWVAGTSTGGILALAILHSKSMAYMRGM
  YFRMKDEVFRGSRPYESGPLEEFLKREFGEHTKMTDVRKPKVMLTGTLSDRQPAELHLFR
  NYDAPETVREPRFNQNVNLRPPAQPSDQLVWRAARSSGAAPTYFRPNGRFLDGGLLANNP
  TLDAMTEIHEYNQDLIRKGQANKVKKLSIVVSLGTGRSPQVPVTCVDVFRPSNPWELAKT
  VFGAKELGKMVVDCCTDPDGRAVDRARAWCEMVGIQYFRLNPQLGTDIMLDEVSDTVLVN
  ALWETEVYIYEHREEFQKLIQLLLSP

• Sequence length: 806

Pathways

KEGG:

Glycerophospholipid metabolism
Ether lipid metabolism
Arachidonic acid metabolism
Linoleic acid metabolism
alpha-Linolenic acid metabolism
Metabolic pathways
Ras signaling pathway
Efferocytosis
Vascular smooth muscle contraction
Fc gamma R-mediated phagocytosis
Inflammatory mediator regulation of TRP channels

Reactome:

Acyl chain remodelling of PC
Acyl chain remodelling of PE
Role of phospholipids in phagocytosis
COPI-independent Golgi-to-ER retrograde traffic

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
Abnormal brain morphology	Likely pathogenic	rs1060499764	RCV000454298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs2145682922, rs2145683127, rs2145722278	RCV001814551 RCV001814543 RCV001814478	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive Parkinson disease 14	Pathogenic; Likely pathogenic	rs1484455290, rs2145683127, rs368008077, rs1000303487, rs587784350, rs587784339, rs149712244, rs587784336, rs587784327, rs587784361, rs2087622708, rs797044903, rs121908681, rs121908683, rs587784353, rs121908685, rs121908686, rs121908687, rs2087184707, rs530348521, rs368497893, rs761815070, rs767689496, rs2088081974, rs1060499764, rs387906863, rs387906864, rs774631197, rs200075782, rs199935023, rs750939090, rs1465629909, rs776713955, rs1223788672, rs776376695	RCV004796605 RCV005023187 RCV005038262 RCV005038323 RCV003883135 RCV005025226 RCV002505129 RCV002505128 RCV005025224 RCV005025227 RCV005869792 RCV005031725 RCV001542712 RCV005031400 RCV002504755 RCV000660638 RCV000006581 RCV000006582 RCV005036703 RCV002494803 RCV002479994 RCV005029988 RCV005036867 RCV005030236 RCV005027497 RCV000023314 RCV000023315 RCV000023316 RCV005031452 RCV000023319 RCV000763483 RCV005027834 RCV005036260 RCV005029740 RCV005038021	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs121908681	RCV001003639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs121908681	RCV001003639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental regression	Likely pathogenic; Pathogenic	rs121908681	RCV001003639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial prostate cancer	Likely pathogenic; Pathogenic	rs750939090	RCV005900915	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs121908681	RCV001003639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile neuroaxonal dystrophy	Likely pathogenic; Pathogenic	rs775386225, rs1296348337, rs2145710946, rs1484455290, rs2145683127, rs368008077, rs1043378899, rs1000303487, rs760904035, rs2145753835, rs1318351016, rs2145722213, rs2145770192, rs1216972369, rs587784352, rs587784350, rs587784339, rs149712244, rs587784336, rs121908681, rs535486098, rs370691849, rs587784330, rs587784329, rs587784327, rs587784361, rs587784359, rs2087622708, rs1485023784, rs1048444597, rs769047790, rs794729212, rs797044903, rs2517951819, rs797045888, rs587784343, rs121908683, rs587784353, rs121908685, rs121908686, rs121908687, rs2517962176, rs1167198937, rs2087184707, rs530348521, rs886039552, rs368497893, rs761815070, rs1273963356, rs1397030516, rs2517930638, rs767689496, rs1290554462, rs1172241523, rs2087008432, rs2517951495, rs2517918137, rs2518019872, rs2087146072, rs587784332, rs2517988990, rs2518020318, rs2518068499, rs2517930878, rs2517910411, rs777259654, rs762458355, rs2088081974, rs2518056465, rs2088072907, rs2517952110, rs2518056118, rs2518020258, rs1060499764, rs387906863, rs200075782, rs199935023, rs764959600, rs1555979401, rs750939090, rs1555988204, rs1556032708, rs1235695530, rs1465629909, rs1569263730, rs1569243565, rs1282370486, rs1602057157, rs1602051017, rs776713955, rs1602088419, rs1177564212, rs1025497590, rs1477656610, rs753874848, rs1223788672, rs776376695, rs765156550, rs2089023572	RCV002545037 RCV003507372 RCV001647170 RCV003507373 RCV005023187 RCV005038262 RCV002032692 RCV005038323 RCV002019802 RCV002249135 RCV002250243 RCV002250244 RCV002250245 RCV002250246 RCV003615819 RCV003883135 RCV000680170 RCV001849994 RCV002505128 RCV003507257 RCV001849993 RCV002515977 RCV002051814 RCV001382840 RCV000199765 RCV001849998 RCV001382688 RCV003098023 RCV003064656 RCV003088506 RCV002651165 RCV000990440 RCV005031725 RCV002835019 RCV003507265 RCV000006575 RCV003507245 RCV000006578 RCV000535771 RCV000811054 RCV000763482 RCV003049131 RCV003050324 RCV003507474 RCV003507490 RCV000853336 RCV001205763 RCV001382039 RCV005029988 RCV003388714 RCV003508154 RCV003508201 RCV003508541 RCV003506772 RCV003508882 RCV003508936 RCV003506880 RCV003507040 RCV003507156 RCV003506939 RCV003507838 RCV003507914 RCV003616014 RCV003616632 RCV003616725 RCV003616805 RCV003616906 RCV003616926 RCV003617061 RCV003617282 RCV003615634 RCV003816901 RCV003821612 RCV003852783 RCV003862954 RCV001808827 RCV002477008 RCV000023318 RCV001852019 RCV000578770 RCV000502251 RCV000500147 RCV000626237 RCV003507307 RCV000634962 RCV000680069 RCV000680067 RCV000691192 RCV000785898 RCV000808605 RCV000853335 RCV000990438 RCV000990439 RCV000990442 RCV000990443 RCV000990445 RCV001004413 RCV001004414 RCV003507352 RCV005094042 RCV005038021 RCV001644963 RCV001880145	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile osteopetrosis with neuroaxonal dysplasia	Likely pathogenic; Pathogenic	rs149712244	RCV003338422	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iron accumulation in brain	Likely pathogenic; Pathogenic	rs587784354, rs587784352, rs587784350, rs587784340, rs587784339, rs149712244, rs587784336, rs121908681, rs535486098, rs370691849, rs587784333, rs587784330, rs587784329, rs587784327, rs587784362, rs587784361, rs587784359, rs587784357, rs587784355, rs587784356, rs587784343, rs587784353, rs200075782	RCV000147323 RCV000147319 RCV000147317 RCV000147305 RCV000147304 RCV000147303 RCV000147297 RCV000147296 RCV000147294 RCV000147293 RCV000147289 RCV000147286 RCV000147285 RCV000147283 RCV000147336 RCV000147334 RCV000147331 RCV000147329 RCV000147326 RCV000147328 RCV000147311 RCV000147322 RCV000147282	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Karak syndrome	Likely pathogenic; Pathogenic	rs121908683	RCV000006576	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs121908681	RCV001003639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration with brain iron accumulation	Likely pathogenic; Pathogenic	rs373493102, rs368008077, rs149712244, rs121908681, rs2087622708, rs730882214, rs587784343, rs121908683, rs121908686, rs2087184707, rs530348521, rs886039552, rs1235695530, rs1569263730, rs1282370486, rs776713955, rs750939090	RCV001532992 RCV002266002 RCV003226213 RCV003330510 RCV005931774 RCV000162123 RCV001523781 RCV001582469 RCV003155018 RCV003226742 RCV002282096 RCV004767205 RCV005431830 RCV003235345 RCV004768671 RCV004689945 RCV002469366	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegeneration with brain iron accumulation 2B	Pathogenic; Likely pathogenic	rs1484455290, rs2145683127, rs368008077, rs2145753620, rs1000303487, rs2145711022, rs2145770192, rs587784350, rs587784339, rs149712244, rs587784336, rs535486098, rs587784330, rs587784327, rs587784361, rs797044903, rs797045888, rs121908681, rs587784343, rs121908683, rs587784353, rs121908685, rs121908686, rs121908687, rs1167198937, rs2087184707, rs530348521, rs368497893, rs761815070, rs2518041104, rs767689496, rs2088081974, rs2518055647, rs1060499764, rs387906863, rs200075782, rs199935023, rs1555978219, rs750939090, rs1465629909, rs1569243771, rs776713955, rs1223788672, rs2087478227, rs776376695	RCV001329715 RCV005023187 RCV005038262 RCV001844389 RCV005038323 RCV001845038 RCV004594627 RCV000985141 RCV005025226 RCV000578256 RCV002505128 RCV001823117 RCV000995605 RCV005025224 RCV005025227 RCV005031725 RCV000195256 RCV000006573 RCV000761526 RCV005031400 RCV000006579 RCV000006580 RCV001251187 RCV000763482 RCV005865106 RCV005036703 RCV002470830 RCV002479994 RCV005029988 RCV003340719 RCV005036867 RCV005030236 RCV004547250 RCV005027497 RCV002477008 RCV003105777 RCV005025079 RCV000500906 RCV000763483 RCV005027834 RCV000761544 RCV005036260 RCV005029740 RCV001250206 RCV001264800	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs1555979401	RCV005900916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic; Pathogenic	rs2087184707	RCV005930783	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PLA2G6-associated neurodegeneration	Likely pathogenic; Pathogenic	rs775386225, rs373493102, rs368008077, rs1043378899, rs1000303487, rs587784339, rs149712244, rs587784336, rs121908681, rs535486098, rs370691849, rs587784330, rs587784329, rs587784361, rs1485023784, rs769047790, rs121908683, rs587784353, rs121908685, rs121908687, rs1352483031, rs761956614, rs1167198937, rs2517927333, rs530348521, rs368497893, rs387906863, rs200075782, rs199935023, rs1416924105, rs750939090, rs1465629909, rs761815070, rs1477656610, rs753874848, rs1223788672, rs776376695, rs765156550	RCV002543562 RCV002568913 RCV002569014 RCV002539768 RCV002541208 RCV000600346 RCV002514837 RCV002514835 RCV002514834 RCV002514833 RCV002515976 RCV002514831 RCV002514830 RCV002514838 RCV003041415 RCV002651164 RCV002512836 RCV002512838 RCV002512839 RCV002512840 RCV002789941 RCV002789946 RCV002789947 RCV004798978 RCV002521855 RCV002519034 RCV000779372 RCV002513187 RCV002513188 RCV002527150 RCV002527311 RCV002531410 RCV002535731 RCV002549242 RCV002557959 RCV001195284 RCV002537674 RCV002537691	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PLA2G6-related disorder	Pathogenic; Likely pathogenic	rs1484455290, rs149712244	RCV005866952 RCV003927441	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs530348521, rs1555979401	RCV005895448 RCV005900917	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF SKIN	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HALLERVORDEN-SPATZ SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOCYTIC NEVUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A	—	CTD, GenCC, HPO CTD, GenCC, HPO CTD, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular parkinsonism	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	15840736, 8598867, 9093541		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	8117291		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	9458096		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10571045, 9458096		★☆☆☆☆ Found in Text Mining only
Adult-onset dystonia-parkinsonism	Dystonia-Parkinsonism	Orphanet			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22832605	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	20464283		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	27436223		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	10807743, 11257275, 17728329, 20846430, 24523407		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	8636402		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	26446356	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	20052409		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	24130795, 36233161	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	8125487		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	10807743, 11257275, 20846430, 24523407		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16943248		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19218359		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	24252552	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	21813062		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	12895207, 23277130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	23277130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	21228317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	28618256	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	31255833		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34517184	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19245588, 24862647		★☆☆☆☆ Found in Text Mining only
Carcinoma Lewis Lung	Lewis lung carcinoma	Pubtator	20619503	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18676680, 24512906, 24858037, 25562426		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10195947, 10329065, 11341496, 11509445, 14580379		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	20076847		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	24252552	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy	Cerebellar atrophy	BEFREE	17254819, 22934738, 24130795, 28091863, 31493991, 31496990, 31689548		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar cortical atrophy	Cerebellar cortical atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	18799783, 24130795, 27146152, 36233161, 39184971	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	22934738		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	32474671	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	38287382	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	12818249, 16773503, 20846430, 24988537, 9672073		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	24317353		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	29927323		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	15793850		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	31154555		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	25654966	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	15793850		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	20669327, 28295203, 37403138, 39184971	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	26182903		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	11150521		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19276398, 20042636, 23715757		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10583927, 12827240, 14614355, 15194015, 15978110, 16458133, 20739877, 25167197, 9282792, 9569182, 9657436		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10583927, 11257275, 12827240, 14614355, 15194015, 16458133, 20739877, 24586027, 25167197, 9282792, 9569182, 9657436, 9671001, 9716139		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10583927, 12827240, 14614355, 15194015, 16458133, 20739877, 25167197, 9282792, 9569182, 9657436, 9716139		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	9657436		★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary Thrombosis	BEFREE	15166939, 16153930, 8598867, 9716140		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	24862647		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31277247	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	10571045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	GWASCAT_DG	30429480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystitis Interstitial	Interstitial cystitis	Pubtator	15937147	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	11533523, 21813062		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	19735092, 20938027		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	35247231	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	22580182		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	39300495	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental regression	Developmental regression	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes	Diabetes	BEFREE	20053941, 20083151		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20053941, 20083151, 21029305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	20053941	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	23074238	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	34770770	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25654966	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	25004092		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12827240, 20076847, 25207958		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	29124790		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	20619503, 20669327, 28295203, 31489256, 35041927, 39184971	Associate	★☆☆☆☆ Found in Text Mining only
DYSTONIA 16 (disorder)	Dystonia	BEFREE	21368765, 27942883		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	18570303, 19087156, 20694531, 20938027, 22406380, 27196560, 28991683, 29916839		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	21461262		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26327335		★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	25307738	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24252552	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27513994		★☆☆☆☆ Found in Text Mining only
Epilepsy Myoclonic Benign Adult Familial Type 1	Benign adult familial myoclonic epilepsy	Pubtator	27513994	Associate	★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	BEFREE	21496576		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30735854		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30735854		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	15150326		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	17907177		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	17417602	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35862252	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Graves Disease	Graves Disease	BEFREE	10487700		★☆☆☆☆ Found in Text Mining only
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	BEFREE	21480873, 21496576, 22416811, 23212724, 24209433, 24252552		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	29454663, 30302010		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	24586027		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	20053941		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	39184971	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	21323541, 21691125		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20669327, 27884548		★☆☆☆☆ Found in Text Mining only
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	BEFREE	16783378, 17033970, 17254819, 18359254, 18443314, 18570303, 18799783, 18981035, 19087156, 19138334, 20584031, 20619503, 20886109, 20938027, 21496576, 22031173, 22442204, 22515743, 23182313, 23212724, 23467909, 23622415, 24130795, 24209433, 24252552, 24628589, 24745848, 24800972, 25164370, 25950622, 26001724, 26668131, 27196560, 27395788, 27516098, 27884548, 27942883, 28279750, 28991683, 29440694, 29739362, 30112060, 30302010, 30619057, 30619446, 30707893, 31493761, 31493991		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	GENOMICS_ENGLAND_DG	16783378, 18570303, 18799783, 29903433, 30772976		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	UNIPROT_DG	16783378, 17033970, 23749988		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	CLINVAR_DG	16783378, 18359254, 18570303, 18799783, 19138334, 19893029, 20584031, 20619503, 20669327, 20886109, 20947703, 22934738, 24108619, 24745848, 25164370, 25326637, 26196026, 26668131, 27268037, 27378808, 28821231		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile neuroaxonal dystrophy	Neuroaxonal Dystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infertility Male	Male infertility	Pubtator	26446356	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26182903		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	39277575	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	11278673		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24252552	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	18322019		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	12818249, 24988537		★☆☆☆☆ Found in Text Mining only
Karak Syndrome	Karak Syndrome	BEFREE	20938027, 24130795, 26001724, 27884548		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Karak Syndrome	Karak Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratitis	Keratitis	BEFREE	21461262		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21691125		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	20853438		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	18799783, 20619503, 24252552, 26668131	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	28213071, 28564592		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16718768, 28655161, 31563690		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15793850		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	8869442		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18676680	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24512906, 24858037		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17728329		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	8125487		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	12895207		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	12895207		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	12895207		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	12895207		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	36233161	Associate	★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of lower limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of upper limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21228317		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24518041		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18676680, 24512906, 24858037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16182442, 18441250, 19245588		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12384982, 21228317, 28655161, 29109765, 8117291		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	25307738, 31403758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	GWASCAT_DG	19578364, 28212542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	GWASDB_DG	19578364, 21706340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	19578365, 23291271, 23393597, 29036293, 29753029	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	19747926, 21962134, 22475760, 23291271, 27993549, 29753029, 30680790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	21962134, 23291271, 29036293	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	22371247, 29649452		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	20339511		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	22580182		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29681094, 32071291	Associate	★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19218359		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	40263418	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10329065, 11053714, 11812069, 12791034, 14614355, 15147527, 15565371, 20739877, 20846430, 24988220, 9093541, 9241754, 9569182, 9671001, 9700201, 9716140		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	LHGDN	16943248		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	BEFREE	1520609, 16773503, 7519475, 7975452, 8165025, 9691408		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15994743, 16182442, 18722548, 21228317, 29079220		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	18799783, 19855947, 27395788		★☆☆☆☆ Found in Text Mining only
Neuroaxonal Dystrophies	Neuroaxonal Dystrophy	LHGDN	16783378, 17254819, 18799783		★☆☆☆☆ Found in Text Mining only
Neuroaxonal Dystrophies	Neuroaxonal Dystrophy	BEFREE	20235854, 22416811, 24252552, 25950622, 28107443, 28295203, 29909971		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19009558, 20506406, 26506412		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	16783378, 17101456, 18570303, 18799783, 18981035, 19087156, 20619503, 20629144, 20694531, 20886109, 21480873, 21812034, 22515743, 23182313, 24209433, 24522175, 25592411, 25744623, 25870938, 26506412, 27516098, 28821231, 28991683, 30707893		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	GENOMICS_ENGLAND_DG	16783378, 18570303, 18799783, 29903433, 30772976		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	UNIPROT_DG	16783378		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	CLINVAR_DG	16783378		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	18981035, 27884548, 28991683, 31689548		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4	Neurodegeneration With Brain Iron Accumulation	BEFREE	25592411		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16783378, 18570303, 20619503, 23269600, 24130795, 26668131, 27196560, 27268037, 27513994, 28821231, 29472584, 31489256, 31493761, 37403138, 39184971	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16783378, 19087156, 19855947, 20886109, 23182313, 24628589, 26755131, 26965686, 27513994, 28821231, 29440694, 29909971, 30619057		★☆☆☆☆ Found in Text Mining only
Neuroferritinopathy	Neuroferritinopathy	BEFREE	17101456, 20694531		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	CTD_human_DG	19578365		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	GWASCAT_DG	19578365, 21478494		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	GWASDB_DG	19578365, 21478494		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	25307738, 31403758		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30735854		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25940438		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30735854		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	23277130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	23277130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	BEFREE	24800972		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30735854, 30735855		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	17907177		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16882668	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	15994743		★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	18799783, 20619503, 26245297, 29472584, 30232368, 30537300, 31493761, 32071291, 32457446, 34387792, 36499697, 36706537, 38215561, 39184971, 40282414	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinson Disease	Parkinson disease	BEFREE	20938027, 21368765, 21812034, 22213678, 22459563, 23182313, 25197640, 26755131, 28213071, 28564592, 29108286, 29344929, 30302010, 30978640, 31493761, 31548400		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	Parkinson disease	GENOMICS_ENGLAND_DG	16783378, 18570303, 18799783, 29903433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	Parkinson disease	UNIPROT_DG	18570303		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	Parkinson disease	CLINVAR_DG	18570303, 20886109, 26633545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	Parkinson disease	BEFREE	20619503, 25950622, 26755131, 28991683, 29108286, 30088174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	Parkinson disease	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	Parkinson disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	20619503, 20669327, 27268037, 28295203, 30788857, 37139542, 37403138, 39184971	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	23182313, 31496990		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	18570303, 19087156, 20619503, 20694531, 20938027, 21700586, 22213678, 22406380, 26001724, 27942883, 28213071, 28991683, 29344929, 29577851, 29909971, 29916839, 30788857, 31496990		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	33361639, 37139542	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	17728329		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	19735092, 20938027		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	37139542	Associate	★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	19379734		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16182442, 18441250, 19245588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	19245588		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	23277130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	23277130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	24317353		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	19379734		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12759552, 15318030, 15999343, 16115752, 17629734, 26160611, 28651698, 29077970, 31207866, 31492433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	15318030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorimotor neuropathy	Sensorimotor neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	10627477, 8636402		★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	BEFREE	22751911		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	20669327, 28295203	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia type 5A, recessive	Spastic paraplegia	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	20853438, 28295203, 30302010		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30735855		★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	22751911		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	24522175		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	15331787		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	8916947		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	18570303		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	24862647, 9155583		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	15937147	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	11341496		★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	21812034, 30088174, 30232368, 31493761, 31496990		★☆☆☆☆ Found in Text Mining only