SDHA (succinate dehydrogenase complex flavoprotein subunit A)

Gene

• Entrez ID: 6389
• Gene name: Succinate dehydrogenase complex flavoprotein subunit A
• Gene symbol: SDHA
• Synonyms (NCBI Gene): CMD1GG, FP, MC2DN1, NDAXOA, PGL5, PPGL5, SDH1, SDH2, SDHF
• Chromosome: 5
• Chromosome location: 5p15.33
• Summary: This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs9809219	C>T	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs137852767	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs137852768	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs139881415	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs142441643	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs149875171	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs151170408	C>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs200397144	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs201068049	C>T	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs374087393	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs387906780	C>A,T	Likely-pathogenic, pathogenic, likely-benign	Missense variant, intron variant, synonymous variant, non coding transcript variant, coding sequence variant
rs397514541	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs587781720	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587782077	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs746165168	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant
rs747249998	T>C,G	Pathogenic, likely-benign	Stop gained, intron variant, non coding transcript variant, synonymous variant, coding sequence variant
rs747939816	A>G	Uncertain-significance, likely-pathogenic	Splice acceptor variant, 3 prime UTR variant, intron variant
rs748089700	C>A,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant
rs750865703	->T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, frameshift variant
rs760710175	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs766667009	G>T	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs771328239	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, synonymous variant, missense variant, non coding transcript variant
rs775143272	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs775827529	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs778207102	G>T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant
rs778516878	G>T	Pathogenic, likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs779151375	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs781764920	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786205145	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786205209	G>C	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs786205210	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs876658486	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876658637	->CA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs876659595	G>A	Likely-pathogenic	Intron variant, non coding transcript variant, splice donor variant
rs878854627	GG>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs878854628	G>C	Likely-pathogenic	Splice donor variant
rs878854632	AGC>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, splice acceptor variant
rs886041867	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs940845256	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs1041809852	TGCCACAGGGTAGGAATCTCATTTCT>-	Pathogenic	Splice donor variant, non coding transcript variant, intron variant, coding sequence variant
rs1057523165	G>A	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1060503711	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs1064793567	CG>GA	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1159597886	G>A	Likely-pathogenic	Splice acceptor variant, 3 prime UTR variant, intron variant
rs1285132774	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1423978863	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1458851277	G>C	Likely-pathogenic	Splice acceptor variant
rs1553997323	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553997340	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553997617	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1553997826	CCATCGGTGC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553998199	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553998229	ACGGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553998254	GT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553998606	T>-	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553998613	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553999072	T>A	Likely-pathogenic	Splice donor variant
rs1553999752	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554000360	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554000378	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554001843	->A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1560986132	->TTTA	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, stop gained
rs1560989804	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1560992565	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs1560994766	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1579381753	T>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1579384604	G>A,T	Likely-pathogenic	Intron variant, splice donor variant
rs1579385526	A>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1579385645	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1579386206	AG>C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579391225	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579402180	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579402188	GGGA>TCC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579402807	G>T	Likely-pathogenic	Splice donor variant
rs1579407009	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1579409293	A>G	Likely-pathogenic	Splice acceptor variant
rs1579410180	GT>AG	Likely-pathogenic	Splice donor variant
rs1579437839	C>-	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050937	hsa-miR-17-5p	CLASH	23622248
MIRT048336	hsa-miR-106a-5p	CLASH	23622248
MIRT046836	hsa-miR-222-3p	CLASH	23622248
MIRT036723	hsa-miR-760	CLASH	23622248
MIRT734861	hsa-let-7a-5p	Luciferase reporter assay, Immunohistochemistry (IHC), Immunofluorescence	33446221
MIRT1331736	hsa-miR-1206	CLIP-seq
MIRT1331737	hsa-miR-1237	CLIP-seq
MIRT1331738	hsa-miR-1248	CLIP-seq
MIRT1331739	hsa-miR-2355-5p	CLIP-seq
MIRT1331740	hsa-miR-298	CLIP-seq
MIRT1331741	hsa-miR-302a	CLIP-seq
MIRT1331742	hsa-miR-302b	CLIP-seq
MIRT1331743	hsa-miR-302c	CLIP-seq
MIRT1331744	hsa-miR-302d	CLIP-seq
MIRT1331745	hsa-miR-302e	CLIP-seq
MIRT1331746	hsa-miR-342-3p	CLIP-seq
MIRT1331747	hsa-miR-3658	CLIP-seq
MIRT1331748	hsa-miR-372	CLIP-seq
MIRT1331749	hsa-miR-373	CLIP-seq
MIRT1331750	hsa-miR-375	CLIP-seq
MIRT1331751	hsa-miR-425	CLIP-seq
MIRT1331752	hsa-miR-4287	CLIP-seq
MIRT1331753	hsa-miR-4328	CLIP-seq
MIRT1331754	hsa-miR-4457	CLIP-seq
MIRT1331755	hsa-miR-4469	CLIP-seq
MIRT1331756	hsa-miR-4475	CLIP-seq
MIRT1331757	hsa-miR-4643	CLIP-seq
MIRT1331758	hsa-miR-4685-3p	CLIP-seq
MIRT1331759	hsa-miR-4729	CLIP-seq
MIRT1331760	hsa-miR-4778-3p	CLIP-seq
MIRT1331761	hsa-miR-4789-5p	CLIP-seq
MIRT1331762	hsa-miR-4802-3p	CLIP-seq
MIRT1331763	hsa-miR-513b	CLIP-seq
MIRT1331764	hsa-miR-519a	CLIP-seq
MIRT1331765	hsa-miR-519b-3p	CLIP-seq
MIRT1331766	hsa-miR-519c-3p	CLIP-seq
MIRT1331767	hsa-miR-520a-3p	CLIP-seq
MIRT1331768	hsa-miR-520b	CLIP-seq
MIRT1331769	hsa-miR-520c-3p	CLIP-seq
MIRT1331770	hsa-miR-520d-3p	CLIP-seq
MIRT1331771	hsa-miR-520d-5p	CLIP-seq
MIRT1331772	hsa-miR-520e	CLIP-seq
MIRT1331773	hsa-miR-524-5p	CLIP-seq
MIRT1331774	hsa-miR-548ag	CLIP-seq
MIRT1331775	hsa-miR-548ai	CLIP-seq
MIRT1331776	hsa-miR-548m	CLIP-seq
MIRT1331777	hsa-miR-556-5p	CLIP-seq
MIRT1331778	hsa-miR-579	CLIP-seq
MIRT1331779	hsa-miR-610	CLIP-seq
MIRT1331780	hsa-miR-642b	CLIP-seq
MIRT1331781	hsa-miR-759	CLIP-seq
MIRT1331737	hsa-miR-1237	CLIP-seq
MIRT1331738	hsa-miR-1248	CLIP-seq
MIRT2098034	hsa-miR-1343	CLIP-seq
MIRT1331739	hsa-miR-2355-5p	CLIP-seq
MIRT2098035	hsa-miR-31	CLIP-seq
MIRT2098036	hsa-miR-3128	CLIP-seq
MIRT2098037	hsa-miR-320a	CLIP-seq
MIRT2098038	hsa-miR-320b	CLIP-seq
MIRT2098039	hsa-miR-320c	CLIP-seq
MIRT2098040	hsa-miR-320d	CLIP-seq
MIRT1331751	hsa-miR-425	CLIP-seq
MIRT1331752	hsa-miR-4287	CLIP-seq
MIRT2098041	hsa-miR-4429	CLIP-seq
MIRT1331755	hsa-miR-4469	CLIP-seq
MIRT1331757	hsa-miR-4643	CLIP-seq
MIRT1331758	hsa-miR-4685-3p	CLIP-seq
MIRT2098042	hsa-miR-4691-3p	CLIP-seq
MIRT1331760	hsa-miR-4778-3p	CLIP-seq
MIRT2098043	hsa-miR-4778-5p	CLIP-seq
MIRT1331761	hsa-miR-4789-5p	CLIP-seq
MIRT1331762	hsa-miR-4802-3p	CLIP-seq
MIRT1331771	hsa-miR-520d-5p	CLIP-seq
MIRT1331773	hsa-miR-524-5p	CLIP-seq
MIRT1331777	hsa-miR-556-5p	CLIP-seq
MIRT1331779	hsa-miR-610	CLIP-seq
MIRT1331780	hsa-miR-642b	CLIP-seq
MIRT1331781	hsa-miR-759	CLIP-seq
MIRT2322702	hsa-miR-1227	CLIP-seq
MIRT1331737	hsa-miR-1237	CLIP-seq
MIRT1331738	hsa-miR-1248	CLIP-seq
MIRT2098034	hsa-miR-1343	CLIP-seq
MIRT1331739	hsa-miR-2355-5p	CLIP-seq
MIRT1331740	hsa-miR-298	CLIP-seq
MIRT1331741	hsa-miR-302a	CLIP-seq
MIRT1331742	hsa-miR-302b	CLIP-seq
MIRT1331743	hsa-miR-302c	CLIP-seq
MIRT1331744	hsa-miR-302d	CLIP-seq
MIRT1331745	hsa-miR-302e	CLIP-seq
MIRT2098035	hsa-miR-31	CLIP-seq
MIRT2098036	hsa-miR-3128	CLIP-seq
MIRT1331748	hsa-miR-372	CLIP-seq
MIRT1331749	hsa-miR-373	CLIP-seq
MIRT1331751	hsa-miR-425	CLIP-seq
MIRT2322703	hsa-miR-4252	CLIP-seq
MIRT1331757	hsa-miR-4643	CLIP-seq
MIRT2098042	hsa-miR-4691-3p	CLIP-seq
MIRT2322704	hsa-miR-4701-5p	CLIP-seq
MIRT1331760	hsa-miR-4778-3p	CLIP-seq
MIRT1331762	hsa-miR-4802-3p	CLIP-seq
MIRT1331764	hsa-miR-519a	CLIP-seq
MIRT1331765	hsa-miR-519b-3p	CLIP-seq
MIRT1331766	hsa-miR-519c-3p	CLIP-seq
MIRT1331767	hsa-miR-520a-3p	CLIP-seq
MIRT1331768	hsa-miR-520b	CLIP-seq
MIRT1331769	hsa-miR-520c-3p	CLIP-seq
MIRT1331770	hsa-miR-520d-3p	CLIP-seq
MIRT1331772	hsa-miR-520e	CLIP-seq
MIRT1331774	hsa-miR-548ag	CLIP-seq
MIRT1331775	hsa-miR-548ai	CLIP-seq
MIRT1331776	hsa-miR-548m	CLIP-seq
MIRT1331777	hsa-miR-556-5p	CLIP-seq
MIRT2322705	hsa-miR-588	CLIP-seq
MIRT1331779	hsa-miR-610	CLIP-seq
MIRT1331780	hsa-miR-642b	CLIP-seq
MIRT1331781	hsa-miR-759	CLIP-seq
MIRT2098037	hsa-miR-320a	CLIP-seq
MIRT2098038	hsa-miR-320b	CLIP-seq
MIRT2098039	hsa-miR-320c	CLIP-seq
MIRT2098040	hsa-miR-320d	CLIP-seq
MIRT2098041	hsa-miR-4429	CLIP-seq
MIRT1331761	hsa-miR-4789-5p	CLIP-seq
MIRT1331771	hsa-miR-520d-5p	CLIP-seq
MIRT1331773	hsa-miR-524-5p	CLIP-seq
MIRT2098037	hsa-miR-320a	CLIP-seq
MIRT2098038	hsa-miR-320b	CLIP-seq
MIRT2098039	hsa-miR-320c	CLIP-seq
MIRT2098040	hsa-miR-320d	CLIP-seq
MIRT2098041	hsa-miR-4429	CLIP-seq
MIRT1331757	hsa-miR-4643	CLIP-seq
MIRT2098043	hsa-miR-4778-5p	CLIP-seq
MIRT1331761	hsa-miR-4789-5p	CLIP-seq
MIRT1331771	hsa-miR-520d-5p	CLIP-seq
MIRT1331773	hsa-miR-524-5p	CLIP-seq
MIRT1331777	hsa-miR-556-5p	CLIP-seq
MIRT1331779	hsa-miR-610	CLIP-seq
MIRT1331780	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15961414, 19628817, 19688755, 23747254, 24606901, 26496610, 26618866, 26749241, 28330616, 28514442, 29924966, 31324722, 33961781, 35156780
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	7550341, 16826196
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	NAS	30030361
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	NAS	30030361
GO:0006099	Process	Tricarboxylic acid cycle	TAS	7550341
GO:0006105	Process	Succinate metabolic process	IDA	7550341
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	IBA
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	NAS	30030361
GO:0007399	Process	Nervous system development	IMP	16361598
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IBA
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IEA
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IMP	7550341
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IMP	24781757
GO:0009055	Function	Electron transfer activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0022900	Process	Electron transport chain	IEA
GO:0022904	Process	Respiratory electron transport chain	IDA	7550341
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	IBA
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	IDA	37098072
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	ISS
GO:0045273	Component	Respiratory chain complex II (succinate dehydrogenase)	TAS	7550341
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA

Other IDs

• MIM: 600857
• HGNC: 10680
• e!Ensembl: ENSG00000073578

Protein

• UniProt ID: P31040
• Protein name: Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial (EC 1.3.5.1) (Flavoprotein subunit of complex II) (Fp) (Malate dehydrogenase [quinone] flavoprotein subunit) (EC 1.1.5.-)
• Protein function: Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:10746566, Pub
• PDB: 6VAX, 8DYD, 8DYE, 8GS8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00890	FAD_binding_2	63 → 457	FAD binding domain	Family
  PF02910	Succ_DH_flav_C	512 → 664	Fumarate reductase flavoprotein C-term	Domain

• Sequence:

  MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDH
  EFDAVVVGAGGAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWR
  WHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPFSRTEDGKIYQRAFGGQSLKF
  GKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIE
  DGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGI
  YGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPE
  KDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQ
  VLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDK
  VPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKIS
  KLYGDLKHLKTFDRGMVWNTDLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVR
  IDEYDYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLEYRPVIDKTLNEADCATVPPA
  IRSY

• Sequence length: 664

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
Cardiac arrhythmia	Likely pathogenic	rs9809219	RCV006255129	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carney triad	Likely pathogenic	rs786205145	RCV000170329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse midline glioma, H3 K27-altered	Likely pathogenic	rs9809219	RCV003315222	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1GG	Likely pathogenic; Pathogenic	rs1735353141, rs1295239305, rs587782077, rs200397144, rs2477374565, rs781764920, rs876658637, rs766667009, rs9809219, rs137852767, rs137852768, rs878854632, rs878854627, rs752360961, rs2477316721, rs2477363563, rs780941330, rs1735710012, rs2477315652, rs2477364213, rs2477285455, rs2477365022, rs748089700, rs387906780, rs750380279, rs1041809852, rs940845256, rs1554001843, rs771328239, rs1064793567, rs1553998199, rs778207102, rs1554000360, rs1553999072, rs1553997617, rs775827529, rs1554002451, rs775143272, rs1560994766, rs1579437839, rs1579384604, rs1579410180, rs1734988578	RCV003473911 RCV002508961 RCV003474765 RCV000765834 RCV003475330 RCV002492875 RCV004567524 RCV002500730 RCV003473060 RCV003473061 RCV000009286 RCV004567735 RCV002500781 RCV003475074 RCV003472607 RCV003472611 RCV003472623 RCV003472624 RCV003472625 RCV003472626 RCV003472627 RCV003472629 RCV002502437 RCV003473121 RCV006249377 RCV002506134 RCV003476124 RCV003476128 RCV004568113 RCV002506172 RCV003476157 RCV002491084 RCV003476303 RCV003476302 RCV003476301 RCV003476304 RCV003476321 RCV003476323 RCV003472044 RCV004569343 RCV002501099 RCV002497343 RCV003473567 RCV002497742 RCV002480754	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal stromal tumor	Pathogenic; Likely pathogenic	rs2126549741, rs151170408, rs878854632, rs752360961, rs2477349696, rs387906780, rs775143272, rs751904543, rs1734957331, rs1734890180	RCV001799813 RCV001799638 RCV001799643 RCV001799642 RCV003329095 RCV001799611 RCV001799694 RCV001799703 RCV001799730 RCV003483794	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs2126568833	RCV005868518	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs1735353141, rs940845256, rs2126633124, rs1734829878, rs1385076821, rs2126542910, rs778737664, rs1173940446, rs1295239305, rs2126549741, rs2126546657, rs2126585710, rs1307665893, rs878854631, rs2126543272, rs2126522051, rs587782077, rs200397144, rs2477374565, rs2477293926, rs2477293918, rs2477251404, rs1242620940, rs2126568596, rs2477454681, rs3181540, rs2477375709, rs143798161, rs2477398047, rs747249998, rs2477458208, rs2477476930, rs2477374740, rs2477350916, rs2477476665, rs2477285645, rs759574062, rs2477295096, rs1579381374, rs781764920, rs876658637, rs876658486, rs151170408, rs766667009, rs876659595, rs9809219, rs137852767, rs1061517, rs878854632, rs746165168, rs878854627, rs752360961, rs2477459237, rs1190622143, rs2477457936, rs147014102, rs886041867, rs2477376026, rs2477349889, rs2477295482, rs2477365465, rs2477364861, rs2477316500, rs2126539387, rs2126522851, rs2477333271, rs2477457583, rs2477280285, rs2477397873, rs1734986168, rs2126522171, rs2477362782, rs2477376548, rs1579445044, rs2477298889, rs2477317908, rs2477364281, rs748089700, rs387906780, rs750380279, rs1041809852, rs1554001843, rs771328239, rs1064793567, rs1553998199, rs778207102, rs1554000360, rs1553999072, rs1553997377, rs1553997617, rs1458851277, rs1553998606, rs775827529, rs747939816, rs1159597886, rs1554002451, rs1553997826, rs1553998254, rs1553998613, rs1553998229, rs775143272, rs1285132774, rs1560980939, rs1560994766, rs751904543, rs1560992565, rs1579437839, rs1579369969, rs1579402807, rs1579409293, rs778516878, rs1579381753, rs1423978863, rs1579385526, rs1579391225, rs1579402180, rs1579384604, rs1579410180, rs1734830402, rs1734957331, rs1735691933, rs762456298, rs1735791499, rs1734988578, rs1735779936, rs1560985916, rs1175771583	RCV004037634 RCV002413906 RCV002404895 RCV002420861 RCV006287435 RCV002456598 RCV002329405 RCV002350731 RCV002357289 RCV002343850 RCV002259153 RCV004946779 RCV002361297 RCV003303493 RCV002256871 RCV003167128 RCV000130573 RCV000163558 RCV003340474 RCV002320605 RCV002320611 RCV002357983 RCV002366535 RCV002371170 RCV002398383 RCV002401394 RCV002387775 RCV002391669 RCV002389756 RCV002401223 RCV002414754 RCV002415257 RCV002380601 RCV002406155 RCV002412962 RCV002415074 RCV002408375 RCV003340601 RCV004073222 RCV000575496 RCV000216352 RCV000221025 RCV000221764 RCV000218973 RCV000215067 RCV000573113 RCV002399314 RCV002415407 RCV000567727 RCV002338730 RCV000567631 RCV000567345 RCV001013022 RCV003177566 RCV003177580 RCV003177581 RCV003214791 RCV003298335 RCV003310439 RCV003278321 RCV003278322 RCV003278324 RCV003278326 RCV003311075 RCV003311076 RCV003339144 RCV003339151 RCV003369177 RCV005273690 RCV004949089 RCV004661776 RCV006292472 RCV004516473 RCV004516474 RCV004516484 RCV004516496 RCV004516511 RCV004516520 RCV004950821 RCV004661839 RCV002418229 RCV000566844 RCV000564186 RCV001017951 RCV002393168 RCV001026811 RCV004948339 RCV001019810 RCV002438178 RCV000575106 RCV000566076 RCV000566587 RCV002256388 RCV000569896 RCV000570222 RCV001021144 RCV000560981 RCV000572546 RCV000575535 RCV000565006 RCV000574361 RCV000568850 RCV000563934 RCV004948456 RCV002413782 RCV004025784 RCV004025780 RCV001025088 RCV005638518 RCV002440542 RCV004948603 RCV002386222 RCV002397443 RCV002442539 RCV002390625 RCV003166289 RCV002406799 RCV003307557 RCV001013115 RCV001016312 RCV001018677 RCV001023147 RCV001025803 RCV001019364 RCV001022698 RCV001022699 RCV001011550 RCV005732249 RCV002451264 RCV002436649 RCV002363550 RCV004031999 RCV004671266 RCV005268944 RCV005269006 RCV005732329 RCV005732335 RCV002402720	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pheochromocytoma and paraganglioma	Likely pathogenic; Pathogenic	rs2477455174, rs748089700, rs747249998, rs1734890180	RCV004018229 RCV004017601 RCV001535631 RCV003483794	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leigh syndrome	Likely pathogenic; Pathogenic	rs200397144, rs9809219, rs1553997617	RCV000765834 RCV000790927 RCV005367399	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Pathogenic	rs1392860800	RCV005939149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex II deficiency, nuclear type 1	Pathogenic; Likely pathogenic	rs2126549179, rs1735353141, rs940845256, rs2126633124, rs1734829878, rs1385076821, rs2126542910, rs778737664, rs1173940446, rs1295239305, rs2126578081, rs2126546657, rs2126585710, rs2126631964, rs2126602655, rs2126633648, rs2126578126, rs2126543441, rs1307665893, rs2126633505, rs878854631, rs2126549281, rs2126547233, rs2126522051, rs2126568833, rs878854628, rs2126539382, rs1553999072, rs2126543272, rs2126632404, rs1561010916, rs2126547751, rs587782077, rs200397144, rs2477374565, rs2477251404, rs1242620940, rs143798161, rs2477398047, rs2477458208, rs2477295096, rs2477351091, rs1579381374, rs762456298, rs2477298642, rs2477457537, rs2477363254, rs781764920, rs771111180, rs765094070, rs2477251707, rs1453752069, rs766667009, rs2477317847, rs2477454907, rs2477348187, rs2477397322, rs2477363140, rs876658637, rs876658486, rs151170408, rs876659595, rs9809219, rs137852767, rs1061517, rs137852768, rs878854632, rs746165168, rs878854627, rs752360961, rs1190622143, rs147014102, rs886041867, rs370547766, rs780941330, rs2477285455, rs2477280285, rs2126568840, rs2477348170, rs2477349594, rs1734954603, rs2477348907, rs2477397873, rs2477454190, rs2477287321, rs2477376643, rs2477294498, rs2477398507, rs2477349585, rs1734986168, rs1735565649, rs1579417444, rs2477299633, rs2477375957, rs2472996373, rs2477317908, rs2477364281, rs748089700, rs387906780, rs750380279, rs1041809852, rs1554001843, rs771328239, rs1064793567, rs1085307796, rs1553998199, rs778207102, rs1554000360, rs1553997377, rs1553997617, rs1554001958, rs1458851277, rs1553998606, rs775827529, rs747939816, rs1159597886, rs1553998254, rs1553998613, rs1553998229, rs747249998, rs775143272, rs1285132774, rs1554000378, rs1553997323, rs1560980939, rs1560994766, rs751904543, rs1560986132, rs1560992565, rs1561010948, rs1560989804, rs780064103, rs1579369841, rs1579385645, rs1579386206, rs1579402188, rs1579407009, rs1579437839, rs1579369969, rs1579402807, rs1579409293, rs778516878, rs1579381753, rs1423978863, rs1579391225, rs1579384604, rs1579410180, rs1734830402, rs1734884330, rs1734957331, rs989318548, rs1735691933, rs1735798915, rs1736795573, rs1735002961, rs1735710103, rs1735791499, rs1734832099, rs1734890180, rs1734988578, rs1735779936, rs1560985916, rs1734887425, rs1175771583	RCV001379214 RCV001378546 RCV001377775 RCV001379935 RCV001385763 RCV001389282 RCV001381899 RCV001383931 RCV001384161 RCV001383279 RCV001381070 RCV001931700 RCV001893983 RCV001924318 RCV001969975 RCV001917391 RCV001935112 RCV002018663 RCV002037896 RCV002002449 RCV001993135 RCV001877276 RCV001866474 RCV001962939 RCV001995700 RCV002037154 RCV001946937 RCV002048798 RCV001958646 RCV001956414 RCV001899180 RCV001956560 RCV001930243 RCV000527052 RCV000464783 RCV003097776 RCV003098098 RCV005227647 RCV003095123 RCV003095236 RCV003097158 RCV003070967 RCV003077360 RCV003086856 RCV002628429 RCV002651872 RCV002796547 RCV002791318 RCV000684793 RCV002834957 RCV002851247 RCV002881583 RCV002877619 RCV002885195 RCV002966537 RCV003015540 RCV003046279 RCV003035160 RCV003054135 RCV002518274 RCV000798190 RCV000810033 RCV000466792 RCV001071130 RCV000009281 RCV000009282 RCV000009283 RCV000009284 RCV000230468 RCV000231881 RCV000232152 RCV000228421 RCV000230417 RCV000227812 RCV003779566 RCV003779714 RCV003765582 RCV003777136 RCV003777423 RCV003779109 RCV003779110 RCV005216113 RCV003798053 RCV003783221 RCV003781726 RCV003789791 RCV003779416 RCV003792403 RCV003804395 RCV003803353 RCV003800937 RCV003800938 RCV003800981 RCV003795062 RCV003808947 RCV003807196 RCV003801944 RCV003813492 RCV003812517 RCV003810561 RCV003802524 RCV003802527 RCV005220927 RCV005216268 RCV001041479 RCV000684799 RCV000554026 RCV000462474 RCV000456955 RCV000460623 RCV000457642 RCV000462116 RCV000649438 RCV000800769 RCV001046092 RCV000551986 RCV000555437 RCV000538564 RCV000525989 RCV000558917 RCV000539370 RCV000530189 RCV001859971 RCV000810235 RCV000702668 RCV000692849 RCV001203781 RCV001381444 RCV001855336 RCV000649431 RCV000649408 RCV000649430 RCV000649416 RCV000649407 RCV001069584 RCV000706101 RCV000696009 RCV000697696 RCV000700223 RCV000698951 RCV000706931 RCV000691877 RCV000690156 RCV000797937 RCV000810724 RCV000823267 RCV000818060 RCV000813707 RCV000792416 RCV000809642 RCV000810130 RCV000807030 RCV000822495 RCV000853252 RCV001221035 RCV001383484 RCV005225209 RCV001204959 RCV003769564 RCV005213435 RCV001037616 RCV001037508 RCV001062355 RCV001063216 RCV001063568 RCV001061275 RCV001041854 RCV001050872 RCV001055477 RCV001036409 RCV001211082 RCV001223903 RCV001218717 RCV001218027 RCV001205972 RCV001236314 RCV001228059 RCV001234597 RCV001240188 RCV001229903	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegeneration with ataxia and late-onset optic atrophy	Likely pathogenic; Pathogenic	rs940845256, rs1295239305, rs587782077, rs200397144, rs781764920, rs766667009, rs9809219, rs1061517, rs878854627, rs748089700, rs1041809852, rs750380279, rs1553998199, rs778207102, rs1579437839, rs1579384604, rs1734988578	RCV001836652 RCV002508961 RCV005417969 RCV001824123 RCV002492875 RCV002500730 RCV005031432 RCV003234897 RCV002500781 RCV005238960 RCV002502437 RCV002506134 RCV002506172 RCV002491084 RCV004586787 RCV002501099 RCV002271609 RCV002497742 RCV002480754	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Opsoclonus-myoclonus syndrome	Likely pathogenic; Pathogenic	rs748089700	RCV002285327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1553999072, rs878854628	RCV005934938 RCV005934939	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Likely pathogenic; Pathogenic	rs878854627	RCV001253762	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pheochromocytoma	Likely pathogenic; Pathogenic	rs878854627	RCV001253762	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pheochromocytoma/paraganglioma syndrome 1	Likely pathogenic; Pathogenic	rs752360961	RCV004546463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pheochromocytoma/paraganglioma syndrome 5	Pathogenic; Likely pathogenic	rs2126549179, rs1735353141, rs940845256, rs2126633124, rs1734829878, rs1385076821, rs2126542910, rs778737664, rs1173940446, rs1295239305, rs2126578081, rs2126546657, rs2126585710, rs2126631964, rs2126602655, rs2126633648, rs2126578126, rs2126543441, rs1307665893, rs2126633505, rs878854631, rs2126549281, rs2126547233, rs2126522051, rs2126568833, rs878854628, rs2126539382, rs1553999072, rs2126543272, rs2126632404, rs1561010916, rs2126547751, rs587782077, rs200397144, rs2477374565, rs2477251404, rs1242620940, rs2126568596, rs3181540, rs143798161, rs2477398047, rs2477458208, rs2477295096, rs2477351091, rs1579381374, rs762456298, rs2477298642, rs2477457537, rs2477363254, rs781764920, rs771111180, rs765094070, rs2477251707, rs1453752069, rs766667009, rs2477317847, rs2477454907, rs2477348187, rs2477397322, rs2477363140, rs876658637, rs876658486, rs151170408, rs876659595, rs9809219, rs137852767, rs1061517, rs137852768, rs878854632, rs746165168, rs878854627, rs752360961, rs2477315106, rs2477362018, rs2477294151, rs1190622143, rs147014102, rs886041867, rs2477365465, rs140243793, rs2477333326, rs370547766, rs2126522851, rs780941330, rs1735710012, rs2477285455, rs2477286479, rs2126590811, rs2477457583, rs2477457298, rs2477397838, rs2477252480, rs2477280285, rs2126568840, rs2477348170, rs2477349594, rs1734954603, rs2477348907, rs2477397873, rs2477454190, rs2477287321, rs2477376643, rs2477294498, rs2477398507, rs2477349585, rs1734986168, rs1735565649, rs1579417444, rs2477299633, rs2477375957, rs2472996373, rs1392860800, rs2477454917, rs76896145, rs2477300874, rs2477376256, rs2477317908, rs2477364281, rs2126522171, rs748089700, rs387906780, rs750380279, rs1041809852, rs1554001843, rs771328239, rs1064793567, rs1085307796, rs1553998199, rs778207102, rs1554000360, rs1553997377, rs1553997617, rs1554001958, rs1458851277, rs1553998606, rs775827529, rs747939816, rs1159597886, rs1554002451, rs1553998254, rs1553998613, rs1553998229, rs747249998, rs775143272, rs1285132774, rs1554000378, rs1553997323, rs1553997340, rs1560980939, rs1560994766, rs751904543, rs1560986132, rs1560992565, rs1561010948, rs1560989804, rs780064103, rs1579369841, rs1579385645, rs1579386206, rs1579402188, rs1579407009, rs1579437839, rs1579369969, rs1579402807, rs1579409293, rs778516878, rs1579381753, rs1423978863, rs1579391225, rs1579402180, rs1579384604, rs1579410180, rs1734830402, rs1734884330, rs1734957331, rs989318548, rs1735691933, rs1735798915, rs1736795573, rs1735002961, rs1735710103, rs1735791499, rs1734832099, rs1734890180, rs1734988578, rs1735779936, rs1560985916, rs1734887425, rs1175771583	RCV001379214 RCV001378546 RCV001377775 RCV001379935 RCV001385763 RCV001389282 RCV001381899 RCV001383931 RCV001384161 RCV001383279 RCV001381070 RCV001931700 RCV001893983 RCV001924318 RCV001969975 RCV001917391 RCV001935112 RCV002018663 RCV002037896 RCV002002449 RCV001993135 RCV001877276 RCV001866474 RCV001962939 RCV001995700 RCV002037154 RCV001946937 RCV002048798 RCV001958646 RCV001956414 RCV001899180 RCV001956560 RCV001930243 RCV000527052 RCV000148027 RCV002289321 RCV003098098 RCV005227647 RCV004056569 RCV004061223 RCV003095123 RCV003095236 RCV003097158 RCV003070967 RCV003077360 RCV003086856 RCV002628429 RCV002651872 RCV002796547 RCV002791318 RCV000191050 RCV002834957 RCV002851247 RCV002881583 RCV002877619 RCV002885195 RCV002966537 RCV003015540 RCV003046279 RCV003035160 RCV003054135 RCV002518274 RCV000798190 RCV000810033 RCV000466792 RCV001071130 RCV000456631 RCV000649458 RCV001233940 RCV001221088 RCV000230468 RCV000231881 RCV000232152 RCV000228421 RCV000230417 RCV000227812 RCV003149094 RCV003149095 RCV003149097 RCV003779566 RCV003779714 RCV003765582 RCV003777136 RCV004790534 RCV003316921 RCV003317010 RCV003337177 RCV005621248 RCV003779109 RCV004786945 RCV003779110 RCV003456337 RCV003456339 RCV003456340 RCV003456341 RCV003456344 RCV003456345 RCV003456346 RCV003452617 RCV003798053 RCV003783221 RCV003781726 RCV003789791 RCV003779416 RCV003792403 RCV003804395 RCV003803353 RCV003800937 RCV003800938 RCV003800981 RCV003795062 RCV003808947 RCV003807196 RCV003801944 RCV003813492 RCV003812517 RCV003810561 RCV003802524 RCV003802527 RCV004442427 RCV004442526 RCV004442532 RCV004442536 RCV004442598 RCV005220927 RCV004589347 RCV004589362 RCV000410820 RCV000411416 RCV000023042 RCV000462474 RCV000456955 RCV000460623 RCV000457642 RCV000462116 RCV000649438 RCV000800769 RCV001046092 RCV000551986 RCV000555437 RCV000538564 RCV000525989 RCV000558917 RCV000539370 RCV000530189 RCV001859971 RCV000810235 RCV000702668 RCV000692849 RCV001203781 RCV004787914 RCV000576361 RCV001855336 RCV000649431 RCV000649408 RCV000649430 RCV000649416 RCV000649407 RCV001069584 RCV000662833 RCV000706101 RCV000696009 RCV000697696 RCV000700223 RCV000698951 RCV000706931 RCV000691877 RCV000690156 RCV000797937 RCV000810724 RCV000823267 RCV000818060 RCV000813707 RCV000792416 RCV000809642 RCV000810130 RCV000807030 RCV000822495 RCV001379066 RCV001221035 RCV001383484 RCV005225209 RCV001537861 RCV001204959 RCV003769564 RCV005213435 RCV001037616 RCV001037508 RCV001062355 RCV001063216 RCV001063568 RCV001061275 RCV001041854 RCV001050872 RCV001055477 RCV001036409 RCV001211082 RCV001223903 RCV001218717 RCV001218027 RCV001205972 RCV001236314 RCV001228059 RCV001234597 RCV001240188 RCV001229903	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs750380279	RCV001257552	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SDHA-related disorder	Pathogenic; Likely pathogenic	rs878854631, rs587782077, rs9809219, rs1734986168, rs1064793567, rs1553998199, rs778207102, rs1553997617, rs751904543	RCV005924357 RCV004734674 RCV005417425 RCV004542276 RCV004529607 RCV004735621 RCV000779471 RCV004538051 RCV004735755	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-lymphoblastic leukemia/lymphoma with hypodiploidy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1GG	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNEY-STRATAKIS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF PULMONARY ARTERY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF SKELETAL MUSCLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Incidental Discovery	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited phaeochromocytoma and paraganglioma excluding NF1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	-; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX II DEFICIENCY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple endocrine neoplasia type 2A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm of brain	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMAS 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMAS 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma/paraganglioma syndrome 4	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pilocytic astrocytoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary artery atresia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick sinus syndrome 2, autosomal dominant	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	16288654, 20484225, 21752896, 21784903, 23174939, 24096807, 24466223, 24623741, 25004247, 25720320, 26067997, 28384794, 29177515		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36551187	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	35260474	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	30259794		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	30259794	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	33960148	Associate	★☆☆☆☆ Found in Text Mining only
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	BEFREE	25976310		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG	20484225, 23612575, 26269449, 28384794		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	27727313	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	11404820	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19544972		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27587393	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	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25053597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19036168, 24203292, 36308411	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	25053597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18072593, 24625421, 26722403, 28029662, 29978187, 30680959, 34014604	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22972948		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	22972948, 33960148	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	20551992	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1GG	Cardiomyopathy	UNIPROT_DG	20551992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1GG	Cardiomyopathy	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1GG	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20551992		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Carney Triad	Carney complex	Pubtator	22948025, 22974104	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carney Triad	Carney Triad	BEFREE	22974104, 23060355, 26173966, 29239034		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carney Triad	Carney Triad	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	33960148	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18559093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	18559093		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	30068732	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32424999	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	30792093		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18072593, 25724004, 26476567, 26722403, 31579262		★☆☆☆☆ Found in Text Mining only
Cranial nerve compression	Cranial nerve compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	35821008	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33960148	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28730835		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	11404820		★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathy, Subacute Necrotizing, Juvenile	Encephalopathy	CTD_human_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	21082267		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	20551992		★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	29625052		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	ORPHANET_DG	21505157, 21997697, 23282968, 23730622		★☆☆☆☆ Found in Text Mining only
Gastrointestinal stromal tumor	Gastrointestinal stromal tumor	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	15519565, 21505157, 22544211, 22955521, 22974104, 23060355, 23109135, 23174939, 24623741, 25188872, 25239601, 25540324, 25766843, 26415883, 26722403, 27317811, 28768491, 29239034, 31124195		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	ORPHANET_DG	21505157, 21997697, 23282968, 23730622		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	22955521, 22974104, 23109135, 23174939, 23282968, 23612575, 23743927, 24625421, 25188872, 25239601, 26415883, 26722403, 30068732, 31124195, 31570771, 33854214, 33960148, 35260474	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30894197		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	20484225, 23612575, 26269449, 28384794		★☆☆☆☆ 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
Glycosuria Renal	Renal glycosuria	Pubtator	30068732	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33397043	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	35748249	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	16288654		★☆☆☆☆ Found in Text Mining only
hereditary paraganglioma	Hereditary Paraganglioma	BEFREE	11692162, 24414418		★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINGEN_DG	16103922, 16195397, 20484225, 21752896, 21784903, 23633203, 23666964, 23750034		★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hereditary pheochromocytoma-paraganglioma	Hereditary Pheochromocytoma-Paraganglioma	Orphanet			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	36551187	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
Hypertensive Retinopathy	Hypertensive Retinopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20484225	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32424999	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ 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
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	10746566, 1511876, 16798039, 19465911, 22972948, 24781757, 7550341, 9730279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	UNIPROT_DG	10746566, 24781757, 7550341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	BEFREE	16288654, 22972948, 24781757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh syndrome	Pubtator	16288654, 16361598, 20551992, 22972948, 24781757, 33960148	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG	16361598, 27604308, 27683074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	10746566, 1511876, 16798039, 19465911, 22972948, 24781757, 7550341, 9730279		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	10746566, 1511876, 16798039, 19465911, 22972948, 24781757, 7550341, 9730279		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	10746566, 1511876, 16798039, 19465911, 22972948, 24781757, 7550341, 9730279		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	10746566, 1511876, 16798039, 19465911, 22972948, 24781757, 7550341, 9730279		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	10746566, 1511876, 16798039, 19465911, 22972948, 24781757, 7550341, 9730279		★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35463978	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	22972948, 24781757		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	22972948, 24781757	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24203292, 31278950		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19544972		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24854530, 27819678, 30201732, 30680959		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18559093		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19544972		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29625052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	30068732	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	CLINVAR_DG	10746566, 15989954, 20484225, 21505157, 21752896, 21858060, 22955521, 22974104, 23043141, 23109135, 23174939, 23612575, 23666964, 23750034, 24694336, 24781757, 25405498, 25488574, 25494863, 25720320, 26173966, 26259135, 26722403, 28546994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	16361598, 22972948, 27604308, 27683074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial complex deficiency	Pubtator	22955521, 22972948, 23743927, 24781757, 25188872, 30680959, 31124195, 31308404	Associate	★★☆☆☆ 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 Complex II Deficiency	Mitochondrial Complex Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	UNIPROT_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex III Deficiency	Mitochondrial complex deficiency	Pubtator	33960148	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	24781757		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24781757, 33960148, 34012134	Associate	★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	25494863		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34462518	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	10746566, 1511876, 16798039, 19465911, 22972948, 24781757, 7550341, 9730279		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasm of small intestine	Intestinal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20484225, 21752896, 22344361, 22955521, 22974104, 23531856, 23797725, 24144290, 24807638, 24854530, 25034258, 25405498, 26259135, 26476567, 26722403, 27340750, 27819678, 30421319, 31124195		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	11423010, 12612654, 15795514, 16798039, 19628817, 20484225, 20489732, 21505157, 21752896, 21858060, 22429592, 22677546, 22904323, 22955521, 23043141, 23060355, 23109135, 23154507, 23174939, 23252569, 23282968, 23612575, 23666964, 23730622, 23750034, 23797725, 24781757, 24886695, 25494863, 25720320, 26113600, 26334176, 26490314, 26556299, 27683074, 27895137, 28384794, 28500238, 28546994, 28819017, 29177515, 7550341		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15681479		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15681479, 30068732	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36551187	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25576295		★☆☆☆☆ 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
Nystagmus Pathologic	Nystagmus	Pubtator	33960148	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	16288654		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	16288654	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31524603		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29275365		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	39256447	Associate	★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	16288654, 20484225, 21082267, 21752896, 21784903, 22955521, 23174939, 23175444, 23531856, 23633203, 23797725, 24096807, 24466223, 24623741, 25004247, 25720320, 26067997, 28179334, 28384794, 29177515, 29239034, 31705439		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	Pubtator	16288654, 20484225, 22955521, 23174939, 23778871, 24466223, 24781757, 27659016, 28122379, 33031286, 33397043, 33960148, 35260474, 40235160	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma of head and neck	Paraganglioma of head and neck	BEFREE	28384794		★☆☆☆☆ Found in Text Mining only
Paraganglioma of head and neck	Paraganglioma of head and neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
PARAGANGLIOMAS 5	Paraganglioma	CLINVAR_DG	10746566, 15989954, 20484225, 21505157, 21752896, 21858060, 22955521, 22974104, 23043141, 23109135, 23174939, 23612575, 23666964, 23750034, 24694336, 24781757, 25405498, 25488574, 25494863, 25720320, 26173966, 26259135, 26269449, 26722403, 28384794, 28546994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMAS 5	Paraganglioma	UNIPROT_DG	20484225		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMAS 5	Paraganglioma	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMAS 5	Paraganglioma	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	31309300		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32210219, 36551187	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Persistent Polyclonal B-Cell Lymphocytosis	Persistent Polyclonal B-Cell Lymphocytosis	BEFREE	31527833		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	16288654, 20484225, 21752896, 21784903, 23174939, 24096807, 24623741, 25720320, 26067997, 28384794, 29177515		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pheochromocytoma	Pheochromocytoma	Pubtator	16288654, 20484225, 23174939, 24466223, 24625421, 24694336, 24781757, 25720320, 26173966, 28099933, 28384794, 33397040, 33397043, 33960148	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	24807638		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	25494863	Associate	★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	26259135		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24837709	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary chondroma	Pulmonary chondroma	BEFREE	29239034		★☆☆☆☆ 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 carcinoma	Renal Carcinoma	BEFREE	26476567		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25724004, 26476567, 26722403, 31579262		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	28878254	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	20073568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20073568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	38237798	Associate	★☆☆☆☆ 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, 40141095	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Succinate-coenzyme Q reductase deficiency	Succinate-Coenzyme Q Reductase Deficiency	BEFREE	22972948, 27683074		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19893615	Associate	★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	33960148	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18559093	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	31596927	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	22974104	Associate	★☆☆☆☆ Found in Text Mining only