SDHB (succinate dehydrogenase complex iron sulfur subunit B)

Gene

• Entrez ID: 6390
• Gene name: Succinate dehydrogenase complex iron sulfur subunit B
• Gene symbol: SDHB
• Synonyms (NCBI Gene): CWS2, IP, MC2DN4, PGL4, PPGL4, SDH, SDH1, SDH2, SDHIP
• Chromosome: 1
• Chromosome location: 1p36.13
• Summary: Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11541235	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs33927012	A>G	Benign, benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs34261028	GAAGAAGAAGAA>-,GAA,GAAGAA,GAAGAAGAA,GAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAAGAA	Benign-likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs34309090	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs74315366	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs74315367	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315368	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315369	G>A,C	Uncertain-significance, benign, pathogenic	Missense variant, stop gained, coding sequence variant
rs74315370	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs74315371	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315372	T>C,G	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111430410	C>T	Likely-benign, uncertain-significance, benign, pathogenic	Missense variant, coding sequence variant
rs121917755	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs138996609	G>A	Pathogenic	Missense variant, coding sequence variant
rs146800605	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147815442	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs199809975	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200245469	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs202101384	T>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs267607032	C>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs373976827	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516833	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs397516834	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516835	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516836	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs398122805	C>G,T	Pathogenic	Splice donor variant
rs398123690	G>-,GGG	Pathogenic	Coding sequence variant, frameshift variant
rs528442805	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs570278423	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587781266	GAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781270	A>T	Likely-pathogenic, pathogenic	Splice donor variant
rs587781735	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587782243	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs587782604	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587782617	ATTTGTCTCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782703	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs587782904	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727503415	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504457	A>G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs747198089	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs747518441	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs751000085	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs760169139	A>C,G	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs762812025	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs772551056	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs778952116	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs786201063	C>T	Pathogenic	Splice donor variant
rs786201085	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786201095	A>C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs786201161	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs786201316	T>CC	Pathogenic	Coding sequence variant, frameshift variant
rs786202100	GAGGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786202732	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs786203251	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs786203506	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs786203529	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786203800	A>T	Pathogenic	Coding sequence variant, stop gained
rs794728946	C>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained
rs794728947	->G	Pathogenic	Coding sequence variant, frameshift variant
rs794728948	->TAGA	Pathogenic	Coding sequence variant, frameshift variant
rs794728949	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728950	TAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs864321636	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs864321637	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs864321638	A>C	Likely-pathogenic	Coding sequence variant, stop gained
rs864321639	ATCGATAGA>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs876658367	C>T	Pathogenic	Missense variant, coding sequence variant
rs876658451	G>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs876658461	G>A	Pathogenic	Coding sequence variant, stop gained
rs876658540	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs876658713	T>A,G	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876659329	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876659330	C>G	Likely-pathogenic	Intron variant
rs876659491	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660368	CCTCACC>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs876660642	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854572	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854574	T>G	Likely-pathogenic	Splice acceptor variant
rs878854575	T>A	Pathogenic	Coding sequence variant, stop gained
rs878854576	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs916516745	C>T	Pathogenic	Stop gained, coding sequence variant
rs1045881797	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1060503751	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503752	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503753	T>A	Pathogenic	Stop gained, coding sequence variant
rs1060503757	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503759	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060503762	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060503763	A>C,G	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1060503764	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1060503767	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794269	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794270	T>C	Pathogenic	Splice acceptor variant
rs1131691047	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691049	T>A	Likely-pathogenic, pathogenic	Initiator codon variant, missense variant
rs1131691050	->GTTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1131691051	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691052	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1131691053	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691054	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691055	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1131691057	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1131691058	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691059	TCCACCAGTA>CC	Pathogenic	Coding sequence variant, frameshift variant
rs1131691060	C>T	Pathogenic	Splice acceptor variant
rs1131691061	C>T	Likely-pathogenic, pathogenic	Initiator codon variant, missense variant
rs1209914140	->CGCCTCTGTGAAG	Pathogenic	Coding sequence variant, frameshift variant
rs1228560456	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1278834014	C>A,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs1480267715	AATCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553176976	->AGCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553176979	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553177285	T>A	Pathogenic	Coding sequence variant, stop gained
rs1553177290	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs1553177292	C>T	Likely-pathogenic	Splice acceptor variant
rs1553177424	A>C	Pathogenic	Splice donor variant
rs1553177436	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553177666	GGACTAATGACCAG>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1553177667	C>T	Likely-pathogenic	Splice donor variant
rs1553177669	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553177672	TCTTC>CCTT	Pathogenic	Frameshift variant, coding sequence variant
rs1553177676	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553177677	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553177678	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553177679	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553177687	CTG>AGATACC	Pathogenic	Frameshift variant, coding sequence variant
rs1553177688	->CCATA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553177739	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553177741	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553177742	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553177769	T>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553177772	G>C	Likely-pathogenic	Intron variant
rs1553178040	G>T	Pathogenic	Coding sequence variant, stop gained
rs1553178041	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553178726	C>G	Uncertain-significance, pathogenic	Intron variant
rs1553178729	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553178757	T>C	Pathogenic	Intron variant
rs1553179313	GCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCATCT>-	Pathogenic	Initiator codon variant, inframe deletion, 5 prime UTR variant
rs1553179337	->GCAACCGGCGCCTCAAGGAGAGGGCG	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1553179359	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557738304	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1557739966	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1557741425	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1570944788	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1570944850	->TGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCC	Pathogenic	Coding sequence variant, stop gained, inframe insertion
rs1570944890	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1570945796	->AGATATTTGTCTCC	Pathogenic	Coding sequence variant, frameshift variant
rs1570945961	C>A	Pathogenic	Splice acceptor variant
rs1570948631	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1570958022	->TCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1570958038	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs1570963430	G>A	Pathogenic	Coding sequence variant, stop gained
rs1570963451	->G	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030097	hsa-miR-26b-5p	Microarray	19088304
MIRT046037	hsa-miR-125b-5p	CLASH	23622248
MIRT733575	hsa-miR-96-3p	Luciferase reporter assay, qRT-PCR, Western blotting	31749660
MIRT733575	hsa-miR-96-3p	Luciferase reporter assay, qRT-PCR, Western blotting	31749660

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Repression	17102089
NFE2L2	Unknown	9492280
NRF1	Unknown	9492280
PLAGL1	Repression	19423711

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15961414, 19688755, 24606901, 26749241, 28380382, 28514442, 33961781, 35512704
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	2302193
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	NAS	30030361
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	NAS	30030361
GO:0006099	Process	Tricarboxylic acid cycle	TAS	2302193
GO:0006105	Process	Succinate metabolic process	IEA
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	NAS	30030361
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IEA
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IMP	26925370, 27604842
GO:0009055	Function	Electron transfer activity	IEA
GO:0009060	Process	Aerobic respiration	IBA
GO:0009060	Process	Aerobic respiration	TAS	2302193
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0022904	Process	Respiratory electron transport chain	IBA
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0031966	Component	Mitochondrial membrane	IBA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	IDA	37098072
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	IEA
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048039	Function	Ubiquinone binding	ISS
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	ISS
GO:0051538	Function	3 iron, 4 sulfur cluster binding	IEA
GO:0051538	Function	3 iron, 4 sulfur cluster binding	ISS
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	ISS

Other IDs

• MIM: 185470
• HGNC: 10681
• e!Ensembl: ENSG00000117118

Protein

• UniProt ID: P21912
• Protein name: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial (EC 1.3.5.1) (Iron-sulfur subunit of complex II) (Ip) (Malate dehydrogenase [quinone] iron-sulfur subunit) (EC 1.1.5.-)
• Protein function: Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:26925370, PubMed:27604842). SDH also o
• PDB: 7KCL, 7KCM, 7KLU, 7KLV, 8GS8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13085	Fer2_3	41 → 148	2Fe-2S iron-sulfur cluster binding domain	Domain
  PF13534	Fer4_17	185 → 258		Domain

• Sequence:

  MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQT
  YEVDLNKCGPMVLDALIKIKNEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTN
  LNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEEREKL
  DGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL
  YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV

• Sequence length: 280

Pathways

KEGG:

Citrate cycle (TCA cycle)
Oxidative phosphorylation
Metabolic pathways
Carbon metabolism
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Citric acid cycle (TCA cycle)

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
Carney triad	Likely pathogenic; Pathogenic	rs786201095	RCV000170330	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carney-Stratakis syndrome	Likely pathogenic; Pathogenic	rs587782604, rs587782703, rs397516836, rs786202732, rs786201161, rs786201095, rs786202100, rs772551056, rs2525008654, rs876658461, rs74315366, rs398122805, rs267607032, rs1131691060, rs2077978300	RCV000762865 RCV000013630 RCV005394570 RCV005008079 RCV005008071 RCV005008070 RCV002498816 RCV000763273 RCV005008654 RCV000762866 RCV000763272 RCV000013631 RCV005007884 RCV000762867 RCV004819224 RCV005012481	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal stromal tumor	Pathogenic; Likely pathogenic	rs1553177440, rs2101521922, rs2101541309, rs2101513511, rs2101521760, rs2101522958, rs2101551903, rs398122805, rs2101516484, rs2101528972, rs2101523248, rs2101516424, rs2101551748, rs2101516417, rs2101513438, rs1474282888, rs2101521715, rs2101528919, rs2101521836, rs1553178726, rs2101551846, rs2101541632, rs2101513669, rs2101528951, rs2101521812, rs2101516550, rs587781270, rs760169139, rs397516835, rs587782243, rs587782604, rs587782617, rs74315370, rs587782703, rs587782904, rs2101529108, rs727503415, rs727504457, rs2525008725, rs2101516291, rs2525004176, rs786201085, rs786203251, rs138996609, rs200245469, rs397516836, rs786202732, rs786201161, rs786203529, rs786201095, rs786203506, rs786201316, rs786201063, rs786202100, rs772551056, rs747198089, rs786203800, rs2078100395, rs2525004214, rs1131691054, rs876658540, rs751000085, rs794728950, rs794728949, rs794728947, rs1553179340, rs2525008654, rs2525017788, rs876658713, rs2525004279, rs2525059780, rs864321636, rs876660642, rs876660368, rs876658461, rs876658367, rs876658451, rs878854576, rs878854575, rs878854574, rs878854572, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs74315372, rs2525020920, rs2525004018, rs201517260, rs2078005474, rs2525017627, rs2525059708, rs2525003739, rs2101529138, rs2525059744, rs2524995090, rs267607032, rs2525004143, rs1060503764, rs1060503752, rs1060503757, rs781590955, rs1060503759, rs1060503753, rs1060503751, rs1060503763, rs1060503762, rs876659329, rs1060503767, rs1553176976, rs1064794270, rs1131691058, rs916516745, rs1131691050, rs1131691053, rs1131691060, rs778952116, rs1131691055, rs1131691057, rs1131691061, rs1131691049, rs762812025, rs1131691052, rs1045881797, rs1553177739, rs1553177772, rs1553177424, rs1553177267, rs1553177285, rs1553177667, rs1553177677, rs1553177768, rs1209914140, rs1553177666, rs1553178729, rs1553177688, rs1553176979, rs1553177436, rs1553177676, rs1553177678, rs398123690, rs1553177669, rs397516833, rs1557738304, rs1557741425, rs1557739966, rs1570944850, rs1553177290, rs1570945796, rs1570948527, rs1570958022, rs1570958038, rs1570963430, rs1570963451, rs2077968833, rs2077978300, rs2077999421, rs747518441, rs1351034939, rs2077967597, rs2077978456, rs2077999823	RCV001377619 RCV001376933 RCV001376858 RCV001384747 RCV001382459 RCV001381306 RCV001387810 RCV001868396 RCV005213594 RCV002019589 RCV001946720 RCV001972661 RCV001934749 RCV001975219 RCV001926606 RCV001999969 RCV002016177 RCV001918002 RCV001920751 RCV001899634 RCV002016515 RCV001946951 RCV001951091 RCV002033119 RCV001972503 RCV001981499 RCV002026727 RCV000475161 RCV001886266 RCV002514739 RCV000459169 RCV000456660 RCV000633970 RCV000228450 RCV000232241 RCV000548841 RCV003774737 RCV000798906 RCV000697957 RCV005215841 RCV003103280 RCV003103339 RCV001040032 RCV000461517 RCV000473831 RCV000528137 RCV000539362 RCV000462889 RCV000821774 RCV000797086 RCV001850356 RCV000464351 RCV001054765 RCV000801474 RCV000633969 RCV000467539 RCV000627748 RCV001058703 RCV001383783 RCV003094846 RCV003776313 RCV003775371 RCV002648129 RCV000627752 RCV001385644 RCV003765132 RCV000796858 RCV001921860 RCV002594372 RCV002807218 RCV002837496 RCV002876927 RCV003003327 RCV002515512 RCV001233559 RCV001854690 RCV000472972 RCV001034642 RCV001327188 RCV001857761 RCV000475368 RCV000226466 RCV001377867 RCV000230068 RCV000229229 RCV000234616 RCV000627749 RCV000465474 RCV000022778 RCV001034689 RCV000471400 RCV000800486 RCV001857343 RCV003472640 RCV003780942 RCV003780944 RCV003797644 RCV003801125 RCV003800512 RCV003804745 RCV003802013 RCV003801643 RCV003813258 RCV003804983 RCV000627753 RCV005220917 RCV000627750 RCV000475105 RCV000471748 RCV000473527 RCV000469213 RCV000458792 RCV000463782 RCV000477482 RCV000456990 RCV000460882 RCV000473045 RCV000474236 RCV000458678 RCV001380009 RCV000696403 RCV000633948 RCV001203212 RCV001058694 RCV003766763 RCV002523446 RCV001036821 RCV001244653 RCV000633945 RCV001059539 RCV002527067 RCV002523989 RCV001379744 RCV000692227 RCV000798175 RCV001857227 RCV003766866 RCV001228851 RCV001215683 RCV001389812 RCV001207024 RCV000531863 RCV000534002 RCV001376794 RCV001383002 RCV000525173 RCV000547430 RCV001378111 RCV000557065 RCV002529306 RCV000633976 RCV000633960 RCV000633959 RCV000633978 RCV000633966 RCV003767889 RCV000633965 RCV001852786 RCV000698551 RCV000702806 RCV000695754 RCV000693104 RCV000820083 RCV000822698 RCV000795584 RCV000816787 RCV000795396 RCV000812587 RCV000823074 RCV000815216 RCV001042429 RCV001048320 RCV001223247 RCV001211133 RCV001242943 RCV001242731 RCV001237722 RCV001387122 RCV001871612 RCV001854410	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2101522958, rs1553178726, rs2101513669, rs587781270, rs587781735, rs397516835, rs200021702, rs587782243, rs587782604, rs587782617, rs74315370, rs587782703, rs587782904, rs2101529108, rs727503415, rs727504457, rs2525008725, rs2101516291, rs2525082757, rs2525003842, rs2525004176, rs138996609, rs786201085, rs786203251, rs200245469, rs397516836, rs786202732, rs786201161, rs786203529, rs786201095, rs786203506, rs786201316, rs786201063, rs786202100, rs772551056, rs747198089, rs786203800, rs2078100395, rs2525004214, rs2524994983, rs2524994962, rs2525083200, rs1131691054, rs751000085, rs794728950, rs794728946, rs794728949, rs794728948, rs794728947, rs1553179340, rs876660642, rs876660368, rs876658461, rs876658367, rs876658540, rs876658451, rs876659491, rs876658713, rs876659330, rs876659329, rs878854576, rs878854574, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs74315371, rs74315372, rs398122805, rs2101523059, rs1474282888, rs2525004224, rs2525082838, rs2101529138, rs267607032, rs2525004143, rs2525003715, rs1060503764, rs1060503752, rs1060503757, rs781590955, rs1060503759, rs1060503762, rs1553176976, rs1064794269, rs1064794270, rs1131691058, rs916516745, rs1131691052, rs1131691047, rs1131691050, rs1131691053, rs1131691059, rs1131691060, rs778952116, rs1131691055, rs1131691057, rs1553179337, rs1131691061, rs1131691049, rs762812025, rs1045881797, rs528442805, rs1553177772, rs760169139, rs1553177677, rs1553177292, rs1278834014, rs1553179359, rs1553177290, rs1553177676, rs1553177669, rs1553177741, rs397516833, rs1557738304, rs1557739966, rs1570958038, rs1570944788, rs1570944890, rs1570945961, rs2077978300, rs2077978456, rs2077999823, rs398123690	RCV002329400 RCV002423248 RCV005722517 RCV000128905 RCV000129932 RCV000130852 RCV000130898 RCV000130946 RCV000131970 RCV000131995 RCV000132150 RCV000132151 RCV000132547 RCV005729744 RCV000572682 RCV001016096 RCV002366561 RCV002366610 RCV002364143 RCV002382641 RCV002362153 RCV002362263 RCV000162580 RCV000166478 RCV000164275 RCV000164435 RCV000162444 RCV000162460 RCV000165688 RCV000162804 RCV000166877 RCV000162628 RCV000166840 RCV000163361 RCV000162475 RCV000164746 RCV000162578 RCV000166126 RCV000167262 RCV002376483 RCV002369498 RCV002419263 RCV002412476 RCV002407897 RCV002441395 RCV002453635 RCV001026125 RCV000492313 RCV000492455 RCV002453662 RCV000216710 RCV005482957 RCV000221959 RCV000215647 RCV000215175 RCV000220162 RCV000215934 RCV000219011 RCV000220488 RCV000222241 RCV000221442 RCV000217113 RCV000492633 RCV000492765 RCV004020795 RCV000215883 RCV000213984 RCV000129095 RCV000128877 RCV000129929 RCV000216404 RCV005722087 RCV001021521 RCV005732049 RCV003377766 RCV003377772 RCV003377773 RCV003377776 RCV004366624 RCV005273925 RCV000132167 RCV004508370 RCV004508376 RCV000163600 RCV000492377 RCV005722135 RCV000561023 RCV003168872 RCV004659052 RCV000571526 RCV002393173 RCV002413330 RCV005480375 RCV000492665 RCV000492396 RCV000492179 RCV000492198 RCV000492156 RCV000492389 RCV000492713 RCV000492561 RCV000492109 RCV000492591 RCV000492329 RCV000492576 RCV000492122 RCV000492594 RCV000492186 RCV000492218 RCV001025703 RCV002350122 RCV003302742 RCV002438228 RCV002413384 RCV002350305 RCV000563620 RCV000576054 RCV000573253 RCV000565392 RCV004948492 RCV004948553 RCV002352068 RCV000128907 RCV000492138 RCV003303166 RCV001026274 RCV001024760 RCV003307514 RCV001026234 RCV001025764 RCV001014831 RCV001024063 RCV003380816 RCV003365294 RCV002339706 RCV000569431	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pheochromocytoma and paraganglioma	Likely pathogenic; Pathogenic	rs2101521720, rs1474282888, rs587781270, rs397516835, rs587782243, rs587782604, rs74315370, rs587782703, rs587782904, rs2525020788, rs727503415, rs727504457, rs786201085, rs138996609, rs200245469, rs397516836, rs786202732, rs786201161, rs786201095, rs786201316, rs786201063, rs772551056, rs747198089, rs786203800, rs876658540, rs751000085, rs794728946, rs876660642, rs876658461, rs876658367, rs876658451, rs876658713, rs786203251, rs878854575, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs2525060115, rs267607032, rs398122805, rs781590955, rs1060503751, rs778952116, rs1131691061, rs1131691049, rs34309090, rs762812025, rs1131691052, rs1045881797, rs528442805, rs1553177672, rs1553177679, rs1553177687, rs1553177739, rs1553177742, rs1480267715, rs1553177772, rs1553178040, rs1553178041, rs760169139, rs1553179313, rs1553179359, rs1553177688, rs397516833, rs1553177290, rs1570945961, rs2077978300, rs747518441, rs2077999823	RCV001532952 RCV004017890 RCV000505293 RCV000505338 RCV000505332 RCV000505312 RCV000505277 RCV000505343 RCV005055439 RCV002282859 RCV000505315 RCV000155443 RCV003995206 RCV000505374 RCV002466456 RCV000505334 RCV000505299 RCV000505364 RCV000780706 RCV003995250 RCV000505373 RCV000505310 RCV000505352 RCV000505382 RCV005055461 RCV000505340 RCV000505286 RCV003998576 RCV001175589 RCV000505388 RCV000505376 RCV000505327 RCV004804876 RCV003323466 RCV000505337 RCV000037718 RCV000030623 RCV000505354 RCV001797588 RCV000505368 RCV004011568 RCV004018381 RCV000505378 RCV000505379 RCV004017631 RCV000505308 RCV000505304 RCV004003475 RCV000505307 RCV000505357 RCV000505318 RCV000505294 RCV000505367 RCV000505349 RCV000505347 RCV000505330 RCV000505290 RCV000505383 RCV000505358 RCV000505329 RCV000505289 RCV000505298 RCV000505375 RCV000505331 RCV000505303 RCV004802196 RCV000608103 RCV000037719 RCV000037723 RCV005055447 RCV004017776 RCV004803407 RCV004803599 RCV001280632	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited phaeochromocytoma and paraganglioma excluding NF1	Pathogenic; Likely pathogenic	rs2101551903, rs587782243, rs587782604, rs587782703, rs397516836, rs786201095, rs786201063, rs772551056	RCV006437052 RCV005865242 RCV005865244 RCV005865245 RCV005865255 RCV005865258 RCV005865256 RCV005865257	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited renal cancer	Likely pathogenic; Pathogenic	rs772551056	RCV006445528	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs1553177772	RCV005900920	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs587782243	RCV005886918	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex 2 deficiency, nuclear type 4	Likely pathogenic; Pathogenic	rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201095, rs786202100, rs772551056, rs2525008654, rs74315368, rs267607032, rs1131691060, rs2077978300	RCV001310280 RCV005230003 RCV005394570 RCV005008079 RCV005008071 RCV005008070 RCV002498816 RCV005394571 RCV005008654 RCV004786257 RCV005007884 RCV004819224 RCV005012481	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs587781270	RCV005886895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Likely pathogenic; Pathogenic	rs2101529108, rs1131691058	RCV002251307 RCV002250641	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pheochromocytoma	Pathogenic; Likely pathogenic	rs1553177440, rs2101521922, rs2101541309, rs2101513511, rs2101521760, rs2101522958, rs2101551903, rs398122805, rs2101516484, rs2101528972, rs2101523248, rs2101516424, rs2101551748, rs2101516417, rs2101513438, rs1474282888, rs2101521715, rs2101528919, rs2101521836, rs1553178726, rs2101551846, rs2101541632, rs2101513669, rs2101528951, rs2101521812, rs2101516550, rs587781270, rs760169139, rs397516835, rs587782243, rs587782604, rs587782617, rs74315370, rs587782703, rs587782904, rs2101529108, rs727503415, rs727504457, rs2525008725, rs2101516291, rs2525004176, rs786201085, rs786203251, rs138996609, rs200245469, rs397516836, rs786202732, rs786201161, rs786203529, rs786201095, rs786203506, rs786201316, rs786201063, rs786202100, rs772551056, rs747198089, rs786203800, rs2078100395, rs2525004214, rs1131691054, rs876658540, rs751000085, rs794728950, rs794728949, rs794728947, rs1553179340, rs2525008654, rs2525017788, rs876658713, rs2525004279, rs2525059780, rs864321636, rs864321638, rs864321639, rs876660642, rs876660368, rs876658461, rs876658367, rs876658451, rs878854576, rs878854575, rs878854574, rs878854572, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs74315372, rs2525020920, rs2525004018, rs201517260, rs2078005474, rs2525017627, rs2525059708, rs2525003739, rs2101529138, rs2525059744, rs2524995090, rs267607032, rs2525004143, rs1060503764, rs1060503752, rs1060503757, rs781590955, rs1060503759, rs1060503753, rs1060503751, rs1060503763, rs1060503762, rs876659329, rs1060503767, rs1553176976, rs1064794270, rs1131691058, rs916516745, rs1131691050, rs1131691053, rs1131691060, rs778952116, rs1131691055, rs1131691057, rs1131691061, rs1131691049, rs762812025, rs1131691052, rs1045881797, rs1553177739, rs1553177772, rs1553177424, rs1553177267, rs1553177285, rs1553177667, rs1553177677, rs1553177768, rs1209914140, rs1553177666, rs1553178729, rs1553177688, rs1553176979, rs1553177436, rs1553177676, rs1553177678, rs398123690, rs1553177669, rs397516833, rs1557738304, rs1557741425, rs1557739966, rs1570944850, rs1553177290, rs1570945796, rs1570948527, rs1570958022, rs1570958038, rs1570963430, rs1570963451, rs2077968833, rs2077978300, rs2077999421, rs747518441, rs1351034939, rs2077967597, rs2077978456, rs2077999823	RCV001377619 RCV001376933 RCV001376858 RCV001384747 RCV001382459 RCV001381306 RCV001387810 RCV001868396 RCV001786533 RCV002019589 RCV001946720 RCV001972661 RCV001934749 RCV001975219 RCV001926606 RCV001999969 RCV002016177 RCV001918002 RCV001920751 RCV001899634 RCV002016515 RCV001946951 RCV001951091 RCV002033119 RCV001972503 RCV001981499 RCV002026727 RCV000475161 RCV001886266 RCV002514739 RCV000459169 RCV000456660 RCV000633970 RCV000228450 RCV000232241 RCV000548841 RCV003774737 RCV000798906 RCV000697957 RCV005215841 RCV003103280 RCV003103339 RCV001040032 RCV000461517 RCV000473831 RCV000528137 RCV000539362 RCV000462889 RCV000821774 RCV000797086 RCV001850356 RCV000464351 RCV001054765 RCV000801474 RCV000633969 RCV000467539 RCV000627748 RCV001058703 RCV001383783 RCV003094846 RCV003776313 RCV003775371 RCV002648129 RCV000627752 RCV001385644 RCV003765132 RCV000796858 RCV001921860 RCV002594372 RCV002807218 RCV002837496 RCV002876927 RCV003003327 RCV000203531 RCV000203511 RCV000203529 RCV001233559 RCV001854690 RCV000472972 RCV001034642 RCV001327188 RCV001857761 RCV000475368 RCV000226466 RCV001377867 RCV000230068 RCV000229229 RCV000234616 RCV000627749 RCV000465474 RCV000627751 RCV001034689 RCV000471400 RCV000800486 RCV001857343 RCV003779111 RCV003780942 RCV003780944 RCV003797644 RCV003801125 RCV003800512 RCV003804745 RCV003802013 RCV003801643 RCV003813258 RCV003804983 RCV000627753 RCV005220917 RCV000627750 RCV000475105 RCV000471748 RCV000473527 RCV000469213 RCV000458792 RCV000463782 RCV000477482 RCV000456990 RCV000460882 RCV000473045 RCV000474236 RCV000458678 RCV001380009 RCV000696403 RCV000633948 RCV001203212 RCV001058694 RCV003766763 RCV002523446 RCV001036821 RCV001244653 RCV000633945 RCV001059539 RCV002527067 RCV002523989 RCV002289679 RCV000692227 RCV000798175 RCV001857227 RCV003766866 RCV001228851 RCV001215683 RCV001389812 RCV001207024 RCV000531863 RCV000534002 RCV001376794 RCV001383002 RCV000525173 RCV000547430 RCV001378111 RCV000557065 RCV002529306 RCV000633976 RCV000633960 RCV000633959 RCV000633978 RCV000633966 RCV003767889 RCV000633965 RCV001852786 RCV000698551 RCV000702806 RCV000695754 RCV000693104 RCV000820083 RCV000822698 RCV000795584 RCV000816787 RCV000795396 RCV000812587 RCV000823074 RCV000815216 RCV001042429 RCV001048320 RCV001223247 RCV001211133 RCV001242943 RCV001242731 RCV001237722 RCV001387122 RCV001871612 RCV001854410	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma/paraganglioma syndrome 4	Pathogenic; Likely pathogenic	rs1553177440, rs2101521922, rs2101541309, rs2101513511, rs2101521760, rs2101522958, rs2101551903, rs398122805, rs2101516484, rs2101528972, rs2101523248, rs2101516424, rs2101551748, rs2101516417, rs2101513438, rs1474282888, rs2101521715, rs2101528919, rs2101521836, rs1553178726, rs2101551846, rs2101541632, rs2101513669, rs2101528951, rs2101521812, rs2101516550, rs587781270, rs760169139, rs397516835, rs587782243, rs587782604, rs587782617, rs74315370, rs587782703, rs587782904, rs2101529108, rs727503415, rs727504457, rs2525008725, rs2101516291, rs2525004176, rs786201085, rs786203251, rs138996609, rs200245469, rs397516836, rs786202732, rs786201161, rs786203529, rs786201095, rs786203506, rs786201316, rs786201063, rs786202100, rs772551056, rs747198089, rs786203800, rs2078100395, rs2525004214, rs2525083200, rs1131691054, rs876658540, rs751000085, rs794728950, rs794728949, rs794728947, rs1553179340, rs2525008654, rs2525017788, rs876658713, rs2525004279, rs2525059780, rs864321636, rs876660642, rs876660368, rs876658461, rs876658367, rs876658451, rs878854576, rs878854575, rs878854574, rs878854572, rs1570963414, rs1131691049, rs74315366, rs74315367, rs74315368, rs587781266, rs74315369, rs74315371, rs74315372, rs2525018148, rs2525020920, rs2524995128, rs2077977917, rs2525004018, rs201517260, rs2078005474, rs2525017627, rs2525059708, rs2525003739, rs2101529138, rs2525059744, rs2524995090, rs267607032, rs2525004143, rs2525020453, rs1060503764, rs1060503752, rs1060503757, rs781590955, rs1060503759, rs1060503753, rs1060503751, rs1060503763, rs1060503762, rs876659329, rs1060503767, rs1553176976, rs1064794270, rs1131691058, rs916516745, rs1131691050, rs1131691053, rs1131691060, rs778952116, rs1131691055, rs1131691057, rs1131691061, rs762812025, rs1131691052, rs1045881797, rs528442805, rs1553177739, rs1553177772, rs1553177424, rs1553177267, rs1553177285, rs1553177667, rs1553177677, rs1553177768, rs1209914140, rs1553177666, rs1553178729, rs1553177292, rs1553177688, rs1553176979, rs1553177436, rs1553177676, rs1553177678, rs398123690, rs1553177669, rs397516833, rs1557738304, rs1557741425, rs1557739966, rs1570944850, rs1553177290, rs1570945796, rs1570948527, rs1570958022, rs1570958038, rs1570963430, rs1570963451, rs2077968833, rs2077978300, rs2077999421, rs747518441, rs1351034939, rs2077967597, rs2077978456, rs2077999823	RCV001377619 RCV001376933 RCV001376858 RCV001384747 RCV001382459 RCV001381306 RCV001387810 RCV001868396 RCV005213594 RCV002019589 RCV001946720 RCV001972661 RCV001934749 RCV001975219 RCV001926606 RCV001999969 RCV002016177 RCV001918002 RCV001920751 RCV001899634 RCV002016515 RCV001946951 RCV001951091 RCV002033119 RCV001972503 RCV001981499 RCV002026727 RCV000475161 RCV001886266 RCV002514739 RCV000459169 RCV000456660 RCV000633970 RCV000228450 RCV000232241 RCV000548841 RCV003774737 RCV000798906 RCV000697957 RCV005215841 RCV003103280 RCV003103339 RCV001040032 RCV000461517 RCV000473831 RCV000528137 RCV000539362 RCV000462889 RCV000821774 RCV000797086 RCV001729423 RCV000464351 RCV001054765 RCV000801474 RCV000633969 RCV000467539 RCV000232432 RCV001058703 RCV001383783 RCV003094846 RCV003776313 RCV003454287 RCV003336747 RCV002648129 RCV000627752 RCV001385644 RCV003765132 RCV000796858 RCV001921860 RCV002594372 RCV002807218 RCV002837496 RCV002876927 RCV003003327 RCV002515512 RCV001233559 RCV001854690 RCV000238597 RCV000461924 RCV001327188 RCV001857761 RCV000475368 RCV000226466 RCV001377867 RCV000230068 RCV000229229 RCV000234616 RCV003485896 RCV003334506 RCV000013616 RCV000013617 RCV000013619 RCV000013621 RCV000013623 RCV000800486 RCV003335030 RCV000013628 RCV003444086 RCV003779111 RCV003452618 RCV003452619 RCV003780942 RCV003780944 RCV003797644 RCV003801125 RCV003800512 RCV003804745 RCV003802013 RCV003801643 RCV003813258 RCV003804983 RCV000013634 RCV005220917 RCV004589251 RCV000022779 RCV000475105 RCV000471748 RCV000473527 RCV000469213 RCV000458792 RCV000463782 RCV000477482 RCV000456990 RCV000460882 RCV000473045 RCV000474236 RCV000458678 RCV000464374 RCV000696403 RCV000633948 RCV001195795 RCV001058694 RCV003766763 RCV002523446 RCV001036821 RCV001244653 RCV000633945 RCV001059539 RCV002527067 RCV002523989 RCV000550393 RCV000692227 RCV000798175 RCV001857227 RCV003766866 RCV005426086 RCV001228851 RCV001215683 RCV001389812 RCV001207024 RCV000531863 RCV000534002 RCV001376794 RCV001383002 RCV000525173 RCV000547430 RCV000551202 RCV000557065 RCV004024463 RCV002529306 RCV000633976 RCV000633960 RCV000633959 RCV000633978 RCV000633966 RCV003767889 RCV000332692 RCV000660257 RCV000698551 RCV000702806 RCV000695754 RCV000693104 RCV000820083 RCV000822698 RCV000795584 RCV000816787 RCV000795396 RCV000812587 RCV000823074 RCV000815216 RCV001042429 RCV001048320 RCV001223247 RCV001211133 RCV001242943 RCV001242731 RCV001237722 RCV001387122 RCV001871612 RCV001854410	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cell carcinoma	Pathogenic	rs2525004332	RCV002306284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal neoplasm	Likely pathogenic; Pathogenic	rs2077978456	RCV001253160	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SDHB-related disorder	Pathogenic; Likely pathogenic	rs587781270, rs74315370, rs587782703, rs786203251, rs786201161, rs786201316, rs786202100, rs772551056, rs876658713, rs74315368, rs267607032, rs1060503757, rs1064794270, rs1131691057	RCV004724824 RCV004554715 RCV004732698 RCV004535125 RCV000374774 RCV004528907 RCV005250028 RCV000722045 RCV004536414 RCV004732806 RCV001836632 RCV004732542 RCV004732551 RCV001813782 RCV004535508 RCV000722044	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2101541309	RCV005922328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Von Hippel-Lindau syndrome	Pathogenic	rs74315366	RCV003233026	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
bilateral breast cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrhythmia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWDEN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cowden syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cowden syndrome 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX II DEFICIENCY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex II deficiency, nuclear type 1	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMAS 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	20618733		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Diseases	Adrenal Gland Diseases	BEFREE	27896548		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	21969497		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	11404820, 12351569, 12364472, 12928344, 14674304, 14974914, 15473885, 15505628, 15883706, 15883710, 16288654, 16357557, 16405730, 16728571, 16735498, 16954163, 17102078, 17102084, 17102085, 17102086, 17119341, 17298303, 17308434, 17520677, 17525480, 17943698, 18307724, 18510707, 18678321, 18726616, 18978332, 19145771, 19233206, 19368708, 19522821, 19522823, 19550080, 19576851, 19802898, 19915015, 20236688, 20505258, 20563860, 20833333, 20890271, 20959442, 20980436, 21262951, 21455202, 21934479, 22167067, 22241719, 22492777, 22566194, 22692282, 22835832, 22836345, 22946750, 23174939, 23175444, 23295290, 23418310, 23512077, 23555188, 23660872, 23889685, 23934599, 24096807, 24144290, 24322175, 24334767, 24465590, 24466223, 24623741, 25014000, 25047027, 25120831, 25405498, 25494863, 25622899, 25720320, 25766404, 25827221, 26162468, 26183460, 26283294, 26438242, 26460615, 26523625, 26722403, 26960314, 27209355, 27539324, 27839933, 27967220, 28229225, 28332880, 28374168, 28409892, 28412207, 28650885, 28738844, 28830936, 29079178, 29292578, 29623478, 29925701, 30352407, 30456751, 30482207, 30715419, 30957378, 30977831, 31216007, 31492822, 31498738, 31851316		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28332880		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28819017		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35432724	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28819017		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	17487275, 35486677	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
bilateral breast cancer	Breast Cancer	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16600798		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30972844	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	21969497	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18254957, 26259135		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18678321, 21979946	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	30045248	Associate	★☆☆☆☆ Found in Text Mining only
Capillary hemangioma of retina	Capillary Hemangioma Of Retina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25048361, 35510387	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24203292, 36308411	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	25053597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16600798		★☆☆☆☆ Found in Text Mining only
Carcinoma of Endocrine Gland	Endocrine Gland cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37312426	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	14685938, 15220362, 18678321, 23083876, 24625421, 25034258, 26370861, 26719882, 26722403, 27573198, 29978187, 31034483, 31092265, 31308404, 33165095, 33564363, 33664427, 34014604, 34551979, 35288096, 35308143, 35414767, 35510387, 36455002, 39486656	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23531856, 34949766	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	20551992, 22972948		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31275164		★☆☆☆☆ Found in Text Mining only
Carney Triad	Carney Triad	BEFREE	19522821, 20890271, 22948025, 22974104, 25622899, 26173966, 28739378, 31236950		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carney Triad	Carney complex	Pubtator	24859990	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carney Triad	Carney Triad	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carney-Stratakis syndrome	Carney-Stratakis Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carotid Body Paraganglioma	Carotid Body Paraganglioma	BEFREE	12381538, 16249420, 17102086, 21945342, 23433498, 24169168, 24509376, 29292578		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	30971719		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	30971719	Associate	★☆☆☆☆ Found in Text Mining only
Chondroma	Chondroma	BEFREE	31236950		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	22344361		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24781345		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26893822, 31774358		★☆☆☆☆ Found in Text Mining only
Clear cell papillary renal cell carcinoma	Papillary Renal Carcinoma	BEFREE	29180251		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	14685938		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	20418362, 28739378		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	25724004		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36949947	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23645213		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28423651, 34853215, 38378070	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	28332880		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	23109135		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital thrombotic disease due to Protein C deficiency	Congenital thrombotic thrombocytopenic purpura	Pubtator	21196298	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctival hamartoma	Conjunctival hamartoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	28332880		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14555992, 14685938, 15220362, 20959442, 22351710, 23083876, 25004247, 25724004, 26476567, 26722403, 29180251, 29978187, 31092265, 31155438, 31299266, 31579262		★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	22670000	Associate	★☆☆☆☆ Found in Text Mining only
Cowden syndrome	Cowden Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cranial nerve compression	Cranial nerve compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29498578		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	38034011	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31539366		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Enlarged polycystic ovaries	Enlarged polycystic ovaries	HPO_DG			★☆☆☆☆ Found in Text Mining only
Episodic paroxysmal anxiety	Episodic paroxysmal anxiety	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Extra-Adrenal Paraganglioma	Extra-Adrenal Paraganglioma	BEFREE	19958924, 25742231		★☆☆☆☆ Found in Text Mining only
Extra-Adrenal Paraganglioma	Extra-Adrenal Paraganglioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	14685938	Associate	★☆☆☆☆ Found in Text Mining only
Fatal Familial Insomnia	Fatal Insomnia	BEFREE	27338255		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	15987702		★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	33620602	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	ORPHANET_DG	21173220		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal stromal tumor	Gastrointestinal stromal tumor	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CLINVAR_DG	11404820, 12000816, 12618761, 14500403, 1523504, 15328326, 15987702, 16304664, 16314641, 16317055, 16405730, 16472267, 16912137, 16916404, 17102082, 17102086, 17143317, 17200167, 17308434, 17652212, 17667967, 17943698, 18362451, 18382370, 18419787, 18728283, 18753105, 19001511, 19184535, 19189136, 19215943, 19258401, 19351833, 19411806, 19454582, 19694205, 1980289, 19802898, 19825962, 19927285, 20119652, 20208144, 20418362, 20459544, 20503330, 20540712, 20583550, 20592014, 20614293, 21173220, 21348866, 21820839, 21934479, 22517554, 22835832, 22972948, 23072324, 2308387, 23083876, 23175444, 23282968, 23512077, 23666964, 23797725, 23934599, 24436918, 24466223, 24509376, 24523625, 24694336, 24939699, 25047027, 25130709, 25298897, 25326637, 25371406, 25405498, 25683602, 25695889, 25736212, 25873086, 25972245, 26173966, 26236513, 26259135, 26267327, 26273102, 26642834, 26719882, 26925370, 27539324, 27549546, 27604842, 28349240, 28374168, 28490599, 28738844, 29386252, 7143317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	17535989, 19522821, 20418362, 20890271, 21173220, 21505157, 21934479, 22544211, 22692282, 22948025, 22955521, 23060355, 23109135, 23174939, 24124608, 24623741, 24840526, 24886695, 24951106, 25188872, 25427437, 25540324, 25766843, 25883251, 26259135, 26555092, 27011036, 27317811, 27371698, 27390349, 27625077, 27943096, 28270683, 28324028, 28768491, 28924001, 29967109, 30301441, 30616628, 30887595, 31124195, 31273876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	17804857		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	19522821, 21173220, 21997692, 22948025, 22955521, 23071355, 23109135, 23282968, 23531856, 23550148, 23612575, 23743927, 24124608, 24356634, 24625421, 25034258, 25165019, 25239601, 25540324, 26370861, 26415883, 26555092, 26722403, 27011036, 28130400, 31124195, 31308404, 33199729, 33854214, 34426440, 34853215	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	ORPHANET_DG	21173220		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	22892600	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	GENOMICS_ENGLAND_DG	22972948, 27604308, 27899189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	34348663	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomus Jugulare Tumor	Glomus Jugulare Tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	31236950		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	18678321, 21979946, 22829200, 25376524, 25694510		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	11897817, 15505628, 16405730, 21224366, 21752889, 21820839, 22109755, 27573198, 31194233, 31856921, 32023584, 32035780, 32460727, 32863293, 34654328, 35171114, 35460558	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	38152133	Associate	★☆☆☆☆ Found in Text Mining only
Heart Neoplasm	Cardiac Neoplasms	BEFREE	14685938		★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	30971719		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	39809184	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	17520677, 27819754, 30013182		★☆☆☆☆ Found in Text Mining only
hereditary paraganglioma	Hereditary Paraganglioma	BEFREE	11404820, 15531530, 15905695, 16405730, 16735498, 17973943, 19184535, 19368708, 20583550, 21771581, 23934599		★☆☆☆☆ Found in Text Mining only
hereditary paraganglioma	Hereditary Paraganglioma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINGEN_DG	11404820, 12000816, 12364472, 12618761, 14500403, 14715873, 16103922, 23175444		★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINVAR_DG	11404820, 12000816, 12364472, 12618761, 12807974, 15328326, 15987702, 15988378, 16288654, 16314641, 16317055, 16405730, 16912137, 16916404, 17102082, 17200167, 17667967, 17884808, 18362451, 18382370, 18419787, 19001511, 19454582, 19522823, 20505258, 21348866, 21909610, 21934479, 22041710, 22429592, 22517554, 22517557, 23083876, 23282968, 24466223, 24523625, 24659481, 25326637, 25371406, 25683602, 25972245, 26173966, 26719882, 26916530, 28324028, 28349240, 28374168, 29386252		★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	BEFREE	26359562, 26359568, 31851064		★☆☆☆☆ Found in Text Mining only
Hereditary pheochromocytoma-paraganglioma	Hereditary Pheochromocytoma-Paraganglioma	Orphanet			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	27611087	Stimulate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	29959348	Associate	★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	31299266		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	23242522		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25402382, 32460727	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension associated with pheochromocytoma	Hypertension associated with pheochromocytoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22344361, 8986904		★☆☆☆☆ Found in Text Mining only
Hypertensive Retinopathy	Hypertensive Retinopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12665464, 17487275	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insomnia Fatal Familial	Insomnia	Pubtator	27338255	Inhibit	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Atresia Multiple	Multiple intestinal atresia	Pubtator	40624119	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	25048361		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	31275164		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	26259135		★☆☆☆☆ Found in Text Mining only
Isolated succinate-CoQ reductase deficiency	Isolated Succinate-CoQ Reductase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	LHGDN	14685938		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	19184535, 21934479, 23083876, 25724004, 26259135		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	14685938, 23083876, 28784873, 30482207, 34551979, 34949766, 36455002	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	22972948	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	23174333		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	22972948, 23174333, 24367056		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	22972948	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	22995659		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24203292, 31278950		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	21997692	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	30940853	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	31856921	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18254957, 21979946, 26259135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	14685938, 15987702, 23083876, 27819754, 28784873		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28242546		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20618733		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	21979946, 25694510		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16600798		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14500403, 15883710, 16249420, 16912137, 16954163, 17102110, 17652212, 18307724, 18551016, 19343621, 19522823, 21820839, 22241719, 22492777, 22566157, 22566194, 23078982, 23154831, 23512077, 23555188, 24144290, 24423348, 25014000, 25014332, 25047027, 25720320, 26041263, 26960314, 27211315, 27865588, 28270683, 28332880, 28429830, 28471419, 28646318, 28752085, 29967109, 30013182, 30977831, 31216007, 31498738		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29720834		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	37245000	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	16322339		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MELAS Syndrome	Melas syndrome	Pubtator	30972844	Associate	★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	8069654		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	26370861	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	29790179		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	30972844	Associate	★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	Microcephaly	BEFREE	24096807		★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	BEFREE	16288654, 22972948, 26008905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial complex deficiency	Pubtator	16288654, 22889736, 22955521, 22972948, 23743927, 25034258, 31124195	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial complex deficiency	Pubtator	21997692, 26415883, 30680959, 31308404, 34551979, 34940133	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	ORPHANET_DG	22972948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	22972948, 22995659, 28807341, 30680959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	22972948, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29288336, 34012134, 37312426	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	27683074		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	17102093, 19522821		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	19522821, 25494863		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	17119341, 19576851		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	17119341, 19576851		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35929063	Associate	★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	BEFREE	27941998		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26547584, 27981552	Associate	★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	15883710		★☆☆☆☆ Found in Text Mining only
Neoplasm of small intestine	Intestinal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12381538, 14500403, 15220362, 15328326, 15476441, 15505628, 15788647, 15987702, 16288654, 16327764, 16954163, 17102078, 17102089, 17520677, 18307724, 18726616, 19184535, 19522823, 20236688, 20498024, 20503330, 20583550, 20592014, 20618733, 20702724, 20833333, 20890271, 20923864, 21262951, 21969497, 22344361, 22492777, 22544211, 22573489, 22948026, 22955521, 22974104, 22977270, 23060355, 23291190, 23512077, 23633203, 23645213, 23717541, 23743927, 23797725, 23934599, 24096807, 24144290, 24169168, 24189137, 24465590, 24599702, 24625421, 24758185, 24807638, 24886695, 24951106, 24977658, 25034258, 25205505, 25394176, 25405498, 25459911, 25491408, 25494863, 25720320, 26259135, 26457353, 26523625, 27209355, 27317811, 27340750, 27371698, 27819762, 27839933, 27896548, 27910947, 27967220, 28099933, 28204537, 28324028, 28423651, 28471419, 28605453, 28768491, 28924001, 28960644, 29079178, 29464059, 29925701, 29967109, 30106970, 30159755, 30281364, 30421319, 30529752, 30616628, 30680959, 30868297, 30971719, 31096446, 31216007, 31236950, 31273876, 31299266, 31498738, 31678991		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	11404820, 11850430, 11897817, 12000816, 12362046, 12364472, 12618761, 14500403, 14685938, 15235042, 15328326, 15987702, 15989954, 16103922, 16304664, 16314641, 16317055, 16405730, 16912137, 16982587, 17102082, 17102086, 17143317, 17200167, 17308434, 17376234, 17487275, 17634472, 17652212, 17848412, 17943698, 17987308, 18362451, 18382370, 18419787, 18551016, 18728283, 18840642, 19075037, 19184535, 19189136, 19215943, 19258401, 19261679, 19351833, 19393419, 19411806, 19415531, 19454582, 19522823, 19576851, 19596260, 19694205, 19763184, 19802898, 19825962, 19927285, 20119652, 20208144, 20213850, 20418362, 20503330, 20540712, 20583550, 20592014, 20614293, 21172883, 21173220, 21348866, 21820839, 21909610, 21934479, 22241717, 22492777, 22517554, 22835832, 22904323, 23072324, 23083876, 23175444, 23282968, 23407919, 23640968, 23666964, 23797725, 23902947, 23934599, 24096523, 24276837, 24395865, 24509376, 24623741, 24659481, 24781345, 25025441, 25047027, 25130709, 25215250, 25298897, 25371406, 25394176, 25683602, 25736212, 25791839, 25873086, 25972245, 26173966, 26273102, 26283294, 26302408, 26642834, 26719882, 26960314, 27171833, 27279923, 27573198, 27604842, 27634942, 27700540, 27785149, 28324028, 28374168, 28490599, 28503760, 29386252, 7547971		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	30013182		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15505628, 16491957, 18057081, 20503330, 24595825, 26173966		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15505628, 20398431, 24595825, 26173966, 36675163	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32490968	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	20592014		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	28432847		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	14739490, 15788647, 17119341, 17121518, 17652212, 19576851, 28332883, 28432847		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	21262951	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	33505538	Associate	★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	29890994		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	29890994	Associate	★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	BEFREE	19184535		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25491408, 33560870	Associate	★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24096523		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	11404820, 12213855, 12351569, 14595761, 14674304, 14685938, 14715873, 14974914, 15328326, 15476441, 15479192, 15531530, 15883704, 15883710, 15987702, 16249420, 16258955, 16288654, 16304664, 16405730, 16472267, 16857415, 16912137, 16954163, 17102078, 17102079, 17119341, 17208193, 17227803, 17520677, 17525480, 17535989, 17599579, 17848412, 17936061, 17973943, 17987308, 18057081, 18213727, 18307724, 18310297, 18362451, 18419787, 18551016, 18678321, 18840642, 18978332, 19075037, 19145771, 19184535, 19190077, 19233206, 19368708, 19393419, 19415531, 19454582, 19522821, 19522823, 19550080, 19576851, 19596260, 19915015, 19927285, 20208144, 20236688, 20418362, 20505258, 20592014, 20833333, 20890271, 20980436, 21082267, 21167381, 21173220, 21455202, 21461997, 21752889, 21784903, 21820839, 21934479, 21969497, 22167067, 22293219, 22344361, 22492777, 22566157, 22566194, 22692282, 22835832, 22836345, 22907877, 23099648, 23109135, 23174939, 23175444, 23291190, 23392211, 23418310, 23512077, 23555188, 23660872, 23707781, 23778871, 23797725, 23889685, 23934599, 23969183, 24096807, 24144290, 24334767, 24429046, 24465590, 24466223, 24509376, 24595825, 24599702, 24623741, 24758179, 24859990, 25014332, 25047027, 25188647, 25402382, 25405498, 25459911, 25622899, 25720320, 25742231, 25766404, 25827221, 25883251, 26067997, 26083822, 26162468, 26183460, 26283294, 26457353, 26523625, 26722403, 26895210, 26960314, 27209355, 27485256, 27634942, 27659016, 27700540, 27839933, 27896548, 27967220, 28036268, 28099933, 28179334, 28204537, 28332880, 28332883, 28454217, 28752085, 28891197, 29079178, 29126304, 29292578, 29386252, 29575826, 29890994, 29925701, 29967109, 30159755, 30551795, 30715419, 30893643, 30977831, 31216007, 31498738, 31705439, 31851064		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	Pubtator	11404820, 11897817, 14685938, 16080474, 16288654, 16405730, 17102082, 17200167, 17208193, 18826997, 18840642, 19075037, 19189136, 19269919, 19368708, 19389109, 19522821, 19576851, 19596260, 19618298, 19628817, 20205103, 20208144, 20398431, 20418362, 20505258, 20540712, 20890271, 20980436, 21051559, 21106325, 21196298, 21455202, 21461997, 21820839, 22109755, 22136839, 22167067, 22261759, 22270996, 22670000, 22835832, 22889736, 22948026, 22972948, 23174939, 23282968, 23360571, 23433498, 23512077, 23550148, 23555188, 23778871, 23889685, 23955600, 24466223, 24595825, 24859990, 25034258, 25048685, 25371406, 25402382, 25459911, 25625332, 25638014, 25720320, 25873086, 26173966, 26457353, 26472283, 26523625, 26960314, 27573198, 27700540, 27819762, 27896548, 28099933, 28122379, 29386252, 29890994, 30045248, 30106970, 31216007, 31308404, 31365623, 32062700, 32460727, 32462735, 32863293, 32892244, 32901905, 32948195, 33031286, 33113876, 33362715, 34446460, 34452955, 34558728, 34853215, 34899602, 35300626, 35498434, 35977513, 36178902, 38152133, 38179299, 40235160	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	LHGDN	11897817, 14685938, 16405730, 16912137, 17143317, 17200167, 17298303, 17599579, 18057081, 18362451, 18551016		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	CTD_human_DG	19927285, 30013182		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	Paraganglioma and gastric stromal sarcoma	BEFREE	17667967, 19522821, 20418362, 20890271, 22948025, 24840526		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	Paraganglioma and gastric stromal sarcoma	ORPHANET_DG	17667967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	Paraganglioma and gastric stromal sarcoma	GENOMICS_ENGLAND_DG	22972948, 27604308, 27899189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	Paraganglioma and gastric stromal sarcoma	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	Paraganglioma and gastric stromal sarcoma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paraganglioma of head and neck	Paraganglioma of head and neck	BEFREE	14974914, 15505628, 16405730, 17102086, 18551016, 19145771, 20592014, 21224366, 22584701, 23072324, 27967220, 31492822		★☆☆☆☆ Found in Text Mining only
Paraganglioma of head and neck	Paraganglioma of head and neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paragangliomas 3	Paraganglioma	Pubtator	17200167, 19189136, 19269919, 20890271, 24239180, 24429046, 26837305, 27819762, 34654328, 35351744	Associate	★☆☆☆☆ Found in Text Mining only
PARAGANGLIOMAS 4	Paraganglioma	CLINVAR_DG	11404820, 12000816, 12618761, 14500403, 1523504, 15328326, 15987702, 16304664, 16314641, 16317055, 16405730, 16472267, 16912137, 16916404, 17102082, 17102086, 17143317, 17200167, 17308434, 17652212, 17667967, 17943698, 18362451, 18382370, 18419787, 18728283, 18753105, 18840642, 19001511, 19184535, 19189136, 19215943, 19258401, 19351833, 19411806, 19454582, 19576851, 19694205, 1980289, 19802898, 19825962, 19927285, 20119652, 20208144, 20418362, 20459544, 20503330, 20540712, 20583550, 20592014, 20614293, 21173220, 21348866, 21820839, 21934479, 22270996, 22517554, 22835832, 22972948, 23072324, 2308387, 23083876, 23175444, 23282968, 23512077, 23666964, 23797725, 23934599, 24436918, 24466223, 24509376, 24523625, 24659481, 24694336, 24939699, 25047027, 25130709, 25298897, 25326637, 25405498, 25683602, 25695889, 25736212, 25873086, 25972245, 26236513, 26259135, 26267327, 26273102, 26642834, 26719882, 26925370, 27539324, 27549546, 27604842, 28490599, 28738844, 7143317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMAS 4	Paraganglioma	UNIPROT_DG	11404820, 11897817, 14715873, 14974914, 15328326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMAS 4	Paraganglioma	BEFREE	21742608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMAS 4	Paraganglioma	GENOMICS_ENGLAND_DG	22972948, 27604308, 27899189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMAS 4	Paraganglioma	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	39536727	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal hypertension	Paroxysmal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	11404820, 12351569, 12364472, 12928344, 14674304, 14974914, 15473885, 15505628, 15883706, 15883710, 16288654, 16357557, 16405730, 16728571, 16735498, 16954163, 17102078, 17102084, 17102085, 17102086, 17119341, 17298303, 17308434, 17520677, 17525480, 17943698, 18307724, 18510707, 18678321, 18726616, 18978332, 19145771, 19233206, 19368708, 19522821, 19522823, 19550080, 19576851, 19802898, 19915015, 20236688, 20505258, 20563860, 20833333, 20890271, 20959442, 20980436, 21262951, 21455202, 21934479, 22167067, 22241719, 22492777, 22566194, 22692282, 22835832, 22836345, 22946750, 23174939, 23175444, 23295290, 23555188, 23934599, 24096807, 24465590, 24623741, 25014000, 25120831, 25494863, 25622899, 25720320, 25766404, 25827221, 26162468, 26183460, 26283294, 26460615, 26523625, 26722403, 26960314, 27839933, 27967220, 28229225, 28332880, 28374168, 28409892, 28412207, 28650885, 28738844, 28830936, 29079178, 29292578, 29623478, 29925701, 30352407, 30456751, 30482207, 30715419, 30957378, 30977831, 31216007, 31492822, 31498738, 31851316		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	CLINVAR_DG	11404820, 12000816, 12618761, 14500403, 1523504, 15328326, 15987702, 16304664, 16314641, 16317055, 16405730, 16472267, 16912137, 16916404, 17102082, 17102086, 17143317, 17200167, 17308434, 17652212, 17667967, 17943698, 18362451, 18382370, 18419787, 18728283, 18753105, 19001511, 19184535, 19189136, 19215943, 19258401, 19351833, 19411806, 19454582, 19694205, 1980289, 19802898, 19825962, 19927285, 20119652, 20208144, 20418362, 20459544, 20503330, 20540712, 20583550, 20592014, 20614293, 21173220, 21348866, 21820839, 21934479, 22517554, 22835832, 22972948, 23072324, 2308387, 23083876, 23175444, 23282968, 23512077, 23666964, 23797725, 23934599, 24436918, 24466223, 24509376, 24523625, 24694336, 24939699, 25047027, 25130709, 25298897, 25326637, 25405498, 25683602, 25695889, 25736212, 25873086, 25972245, 26236513, 26259135, 26267327, 26273102, 26642834, 26719882, 26925370, 27539324, 27549546, 27604842, 28490599, 28738844, 7143317		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	UNIPROT_DG	11404820, 12000816, 12618761, 14500403, 14974914, 15328326, 17634472		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	Pubtator	11404820, 12000816, 16098460, 16288654, 16405730, 17200167, 19368708, 19389109, 20205103, 20398431, 20484225, 20505258, 20890271, 20980436, 21196298, 21262951, 21455202, 21969497, 22036874, 22167067, 22241719, 22270996, 22573489, 22835832, 22889736, 22948026, 22972948, 23174939, 23512077, 23550148, 23555188, 24466223, 24625421, 24694336, 24925884, 25048685, 25494863, 25625332, 25720320, 25873086, 26359261, 26370861, 26472283, 26523625, 26722403, 26960314, 27573198, 27839933, 28099933, 28229225, 28374168, 29623478, 30050099, 30106970, 31216007, 31365623, 32062700, 32460727, 32471518, 32901905, 33113876, 33362715, 33397040, 33947839, 34415331, 34452955, 34536193, 34770976, 34797335, 34899602, 34906457, 35008989, 35037935, 35149119, 35300626, 35977513, 36178902, 36314599, 36946182, 37008946, 37285461, 38152133, 38179299	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	LHGDN	16314641, 16472267, 17308434, 17652212, 17943698, 18310297		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	GENOMICS_ENGLAND_DG	22972948, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	CGI_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	BEFREE	16249420, 17102093, 17308434, 18551016, 18978332		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	24807638		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	24096523		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	22889736, 24625421, 25494863, 28284009, 38152133	Associate	★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29498578		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	26259135		★☆☆☆☆ Found in Text Mining only
Pulmonary chondroma	Pulmonary chondroma	BEFREE	31236950		★☆☆☆☆ Found in Text Mining only
Pulmonary chondroma	Pulmonary chondroma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pulsatile Tinnitus	Pulsatile Tinnitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	23083876, 26476567, 27819754, 28784873		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14555992, 14685938, 15220362, 15987702, 20959442, 22351710, 23083876, 24096523, 24236567, 25004247, 25724004, 26259135, 26476567, 26722403, 27910947, 28646318, 28898443, 29180251, 29978187, 31092265, 31155438, 31299266, 31579262		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18728283		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	34308104	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25048361	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	23717541, 37477937	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26182300, 33620602	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30972844	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29093065, 31103768		★☆☆☆☆ Found in Text Mining only
Succinate-coenzyme Q reductase deficiency	Succinate-Coenzyme Q Reductase Deficiency	BEFREE	22972948, 24367056		★☆☆☆☆ Found in Text Mining only
Succinate-coenzyme Q reductase deficiency	Succinate-Coenzyme Q Reductase Deficiency	GENOMICS_ENGLAND_DG	22972948, 26642834		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15328326, 21979946, 25694510		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	21979946		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	21979946, 22889736	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	18678321	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	29180251		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	25683602, 26457353, 27819762	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26170485	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17986283	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	15987702		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	36232299	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	38152133	Associate	★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	12928344, 14739490, 15788647, 16304664, 16728571, 17121518, 19269919, 19915015, 19958924, 20959442, 20980436, 22573489, 22836345		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	29890994		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	22974104	Associate	★☆☆☆☆ Found in Text Mining only