SDHD (succinate dehydrogenase complex subunit D)

Gene

• Entrez ID: 6392
• Gene name: Succinate dehydrogenase complex subunit D
• Gene symbol: SDHD
• Synonyms (NCBI Gene): CBT1, CII-4, CWS3, MC2DN3, PGL, PGL1, PPGL1, QPs3, SDH4, cybS
• Chromosome: 11
• Chromosome location: 11q23.1
• Summary: This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338844	C>T	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs80338845	G>T	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs80338846	T>C	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs80338847	T>C,G	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant
rs104894302	A>G,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs104894304	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant
rs121908983	ATT>-,ATTATT	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, inframe deletion, inframe insertion, non coding transcript variant
rs201372601	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic, likely-benign	3 prime UTR variant, non coding transcript variant, stop lost, terminator codon variant, synonymous variant
rs202198133	G>A	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs387906358	TC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs587776645	->T	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs587776646	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs587776647	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs587776648	GACT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs755047928	G>A,C,T	Pathogenic, uncertain-significance, likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs786202403	C>A	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs786203067	ACTC>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs786203932	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs786205436	A>G,T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs864321644	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs876658477	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs876659276	T>A,C	Uncertain-significance, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs878854590	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs878854591	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs878854594	C>T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs1050032491	T>A,C	Likely-benign, pathogenic	3 prime UTR variant, synonymous variant, non coding transcript variant, missense variant, stop gained, coding sequence variant
rs1060503769	G>A	Pathogenic	Non coding transcript variant, 3 prime UTR variant, stop gained, coding sequence variant
rs1060503770	C>G,T	Pathogenic	3 prime UTR variant, synonymous variant, non coding transcript variant, missense variant, stop gained, coding sequence variant
rs1060503773	T>-	Pathogenic, likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1131691063	->G	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1131691064	G>-	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1131691065	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1306475361	G>T	Pathogenic	Splice acceptor variant, intron variant
rs1555186992	TGT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion, intron variant
rs1555187067	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1555187083	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs1555187566	G>A	Likely-pathogenic	Splice acceptor variant
rs1555187570	GGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA>-	Pathogenic	Terminator codon variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1555187574	G>T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs1555187583	->T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1555187601	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1555187635	GC>TT	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs1566702771	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1592786159	AA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054099	hsa-miR-210-3p	Luciferase reporter assay	23492775
MIRT054099	hsa-miR-210-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23028679
MIRT054218	hsa-miR-147b	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23028679
MIRT699812	hsa-miR-3138	HITS-CLIP	23313552
MIRT699811	hsa-miR-4800-5p	HITS-CLIP	23313552
MIRT699810	hsa-miR-6833-5p	HITS-CLIP	23313552
MIRT699809	hsa-miR-4752	HITS-CLIP	23313552
MIRT699808	hsa-miR-6083	HITS-CLIP	23313552
MIRT543328	hsa-miR-4517	PAR-CLIP	21572407
MIRT543327	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT543326	hsa-miR-5680	PAR-CLIP	21572407
MIRT543325	hsa-miR-3159	PAR-CLIP	21572407
MIRT543324	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT543323	hsa-miR-5692b	PAR-CLIP	21572407
MIRT543322	hsa-miR-5692c	PAR-CLIP	21572407
MIRT543321	hsa-miR-556-5p	PAR-CLIP	21572407
MIRT543320	hsa-miR-610	PAR-CLIP	21572407
MIRT543319	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT543318	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT543316	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT543317	hsa-miR-7975	PAR-CLIP	21572407
MIRT543315	hsa-miR-384	PAR-CLIP	21572407
MIRT543314	hsa-miR-6875-3p	PAR-CLIP	21572407
MIRT468709	hsa-miR-130a-5p	PAR-CLIP	23592263
MIRT468708	hsa-miR-23b-3p	PAR-CLIP	23592263
MIRT468707	hsa-miR-23c	PAR-CLIP	23592263
MIRT468706	hsa-miR-23a-3p	PAR-CLIP	23592263
MIRT468704	hsa-miR-4289	PAR-CLIP	23592263
MIRT468705	hsa-miR-1250-3p	PAR-CLIP	23592263
MIRT054218	hsa-miR-147b	PAR-CLIP	23592263
MIRT054099	hsa-miR-210-3p	PAR-CLIP	23592263
MIRT468703	hsa-miR-1303	PAR-CLIP	23592263
MIRT468702	hsa-miR-5096	PAR-CLIP	23592263
MIRT054218	hsa-miR-147b	Immunofluorescence, Luciferase reporter assay, Microarray, RNA-seq, qRT-PCR, Western blotting	31535082
MIRT699812	hsa-miR-3138	HITS-CLIP	23313552
MIRT699811	hsa-miR-4800-5p	HITS-CLIP	23313552
MIRT699810	hsa-miR-6833-5p	HITS-CLIP	23313552
MIRT699809	hsa-miR-4752	HITS-CLIP	23313552
MIRT699808	hsa-miR-6083	HITS-CLIP	23313552
MIRT543328	hsa-miR-4517	PAR-CLIP	21572407
MIRT543327	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT543326	hsa-miR-5680	PAR-CLIP	21572407
MIRT543325	hsa-miR-3159	PAR-CLIP	21572407
MIRT543324	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT543323	hsa-miR-5692b	PAR-CLIP	21572407
MIRT543322	hsa-miR-5692c	PAR-CLIP	21572407
MIRT543321	hsa-miR-556-5p	PAR-CLIP	21572407
MIRT543320	hsa-miR-610	PAR-CLIP	21572407
MIRT543319	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT543318	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT543316	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT543317	hsa-miR-7975	PAR-CLIP	21572407
MIRT543315	hsa-miR-384	PAR-CLIP	21572407
MIRT543314	hsa-miR-6875-3p	PAR-CLIP	21572407
MIRT468709	hsa-miR-130a-5p	PAR-CLIP	23592263
MIRT468708	hsa-miR-23b-3p	PAR-CLIP	23592263
MIRT468707	hsa-miR-23c	PAR-CLIP	23592263
MIRT468706	hsa-miR-23a-3p	PAR-CLIP	23592263
MIRT468704	hsa-miR-4289	PAR-CLIP	23592263
MIRT468705	hsa-miR-1250-3p	PAR-CLIP	23592263
MIRT054218	hsa-miR-147b	PAR-CLIP	23592263
MIRT054099	hsa-miR-210-3p	PAR-CLIP	23592263
MIRT468703	hsa-miR-1303	PAR-CLIP	23592263
MIRT468702	hsa-miR-5096	PAR-CLIP	23592263
MIRT1331894	hsa-miR-1238	CLIP-seq
MIRT1331895	hsa-miR-141	CLIP-seq
MIRT1331896	hsa-miR-200a	CLIP-seq
MIRT1331897	hsa-miR-23a	CLIP-seq
MIRT1331898	hsa-miR-23b	CLIP-seq
MIRT1331899	hsa-miR-2467-3p	CLIP-seq
MIRT1331900	hsa-miR-3183	CLIP-seq
MIRT1331901	hsa-miR-330-3p	CLIP-seq
MIRT1331902	hsa-miR-3622b-5p	CLIP-seq
MIRT1331903	hsa-miR-3647-3p	CLIP-seq
MIRT1331904	hsa-miR-371-5p	CLIP-seq
MIRT1331905	hsa-miR-371b-5p	CLIP-seq
MIRT1331906	hsa-miR-376a	CLIP-seq
MIRT1331907	hsa-miR-376b	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT1331910	hsa-miR-4723-3p	CLIP-seq
MIRT1331911	hsa-miR-4735-5p	CLIP-seq
MIRT1331912	hsa-miR-4766-5p	CLIP-seq
MIRT1331913	hsa-miR-499-3p	CLIP-seq
MIRT1331914	hsa-miR-499a-3p	CLIP-seq
MIRT1331915	hsa-miR-581	CLIP-seq
MIRT1331916	hsa-miR-583	CLIP-seq
MIRT1331917	hsa-miR-944	CLIP-seq
MIRT1553284	hsa-miR-210	CLIP-seq
MIRT1331897	hsa-miR-23a	CLIP-seq
MIRT1331898	hsa-miR-23b	CLIP-seq
MIRT1331899	hsa-miR-2467-3p	CLIP-seq
MIRT1331901	hsa-miR-330-3p	CLIP-seq
MIRT1331902	hsa-miR-3622b-5p	CLIP-seq
MIRT2098069	hsa-miR-380	CLIP-seq
MIRT2098070	hsa-miR-4282	CLIP-seq
MIRT2098071	hsa-miR-4318	CLIP-seq
MIRT2098072	hsa-miR-4446-5p	CLIP-seq
MIRT2098073	hsa-miR-4495	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT2098074	hsa-miR-4677-3p	CLIP-seq
MIRT2098075	hsa-miR-4693-5p	CLIP-seq
MIRT2098076	hsa-miR-4755-5p	CLIP-seq
MIRT2098077	hsa-miR-4775	CLIP-seq
MIRT1331913	hsa-miR-499-3p	CLIP-seq
MIRT1331914	hsa-miR-499a-3p	CLIP-seq
MIRT2098078	hsa-miR-513a-3p	CLIP-seq
MIRT1331916	hsa-miR-583	CLIP-seq
MIRT2098079	hsa-miR-590-3p	CLIP-seq
MIRT2098080	hsa-miR-627	CLIP-seq
MIRT2098081	hsa-miR-892a	CLIP-seq
MIRT2098082	hsa-miR-924	CLIP-seq
MIRT2322791	hsa-miR-204	CLIP-seq
MIRT1553284	hsa-miR-210	CLIP-seq
MIRT2322792	hsa-miR-211	CLIP-seq
MIRT2322793	hsa-miR-2355-3p	CLIP-seq
MIRT1331897	hsa-miR-23a	CLIP-seq
MIRT1331898	hsa-miR-23b	CLIP-seq
MIRT1331899	hsa-miR-2467-3p	CLIP-seq
MIRT2322794	hsa-miR-3145-5p	CLIP-seq
MIRT2322795	hsa-miR-3192	CLIP-seq
MIRT2322796	hsa-miR-320e	CLIP-seq
MIRT1331901	hsa-miR-330-3p	CLIP-seq
MIRT2322797	hsa-miR-342-3p	CLIP-seq
MIRT2322798	hsa-miR-3612	CLIP-seq
MIRT1331902	hsa-miR-3622b-5p	CLIP-seq
MIRT2322799	hsa-miR-3689a-3p	CLIP-seq
MIRT2322800	hsa-miR-3689c	CLIP-seq
MIRT2322801	hsa-miR-4264	CLIP-seq
MIRT2098072	hsa-miR-4446-5p	CLIP-seq
MIRT2322802	hsa-miR-4646-3p	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT2322803	hsa-miR-4728-5p	CLIP-seq
MIRT2098076	hsa-miR-4755-5p	CLIP-seq
MIRT1331913	hsa-miR-499-3p	CLIP-seq
MIRT1331914	hsa-miR-499a-3p	CLIP-seq
MIRT1331916	hsa-miR-583	CLIP-seq
MIRT2322804	hsa-miR-622	CLIP-seq
MIRT2322805	hsa-miR-623	CLIP-seq
MIRT2322806	hsa-miR-650	CLIP-seq
MIRT2322807	hsa-miR-885-5p	CLIP-seq
MIRT2322794	hsa-miR-3145-5p	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT1331894	hsa-miR-1238	CLIP-seq
MIRT2618820	hsa-miR-1253	CLIP-seq
MIRT1331899	hsa-miR-2467-3p	CLIP-seq
MIRT1331900	hsa-miR-3183	CLIP-seq
MIRT2618821	hsa-miR-3185	CLIP-seq
MIRT1331901	hsa-miR-330-3p	CLIP-seq
MIRT2322797	hsa-miR-342-3p	CLIP-seq
MIRT2618822	hsa-miR-3613-3p	CLIP-seq
MIRT1331902	hsa-miR-3622b-5p	CLIP-seq
MIRT1331903	hsa-miR-3647-3p	CLIP-seq
MIRT1331904	hsa-miR-371-5p	CLIP-seq
MIRT1331905	hsa-miR-371b-5p	CLIP-seq
MIRT2618823	hsa-miR-3973	CLIP-seq
MIRT2322801	hsa-miR-4264	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT1331910	hsa-miR-4723-3p	CLIP-seq
MIRT1331912	hsa-miR-4766-5p	CLIP-seq
MIRT1331913	hsa-miR-499-3p	CLIP-seq
MIRT1331914	hsa-miR-499a-3p	CLIP-seq
MIRT2618824	hsa-miR-520g	CLIP-seq
MIRT2618825	hsa-miR-520h	CLIP-seq
MIRT2618826	hsa-miR-548l	CLIP-seq
MIRT1331915	hsa-miR-581	CLIP-seq
MIRT1331916	hsa-miR-583	CLIP-seq
MIRT2322804	hsa-miR-622	CLIP-seq
MIRT1331894	hsa-miR-1238	CLIP-seq
MIRT2618820	hsa-miR-1253	CLIP-seq
MIRT1331899	hsa-miR-2467-3p	CLIP-seq
MIRT2618821	hsa-miR-3185	CLIP-seq
MIRT1331901	hsa-miR-330-3p	CLIP-seq
MIRT2322797	hsa-miR-342-3p	CLIP-seq
MIRT2618822	hsa-miR-3613-3p	CLIP-seq
MIRT1331903	hsa-miR-3647-3p	CLIP-seq
MIRT2618823	hsa-miR-3973	CLIP-seq
MIRT2322801	hsa-miR-4264	CLIP-seq
MIRT1331908	hsa-miR-4659a-3p	CLIP-seq
MIRT1331909	hsa-miR-4659b-3p	CLIP-seq
MIRT1331912	hsa-miR-4766-5p	CLIP-seq
MIRT1331913	hsa-miR-499-3p	CLIP-seq
MIRT1331914	hsa-miR-499a-3p	CLIP-seq
MIRT2618824	hsa-miR-520g	CLIP-seq
MIRT2618825	hsa-miR-520h	CLIP-seq
MIRT2618826	hsa-miR-548l	CLIP-seq
MIRT1331915	hsa-miR-581	CLIP-seq
MIRT1331916	hsa-miR-583	CLIP-seq
MIRT2322804	hsa-miR-622	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS
GO:0005740	Component	Mitochondrial envelope	IEA
GO:0005740	Component	Mitochondrial envelope	TAS	9533030
GO:0005743	Component	Mitochondrial inner membrane	IDA	9533030
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:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	IDA	9533030
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	NAS	30030361
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	IBA
GO:0006121	Process	Mitochondrial electron transport, succinate to ubiquinone	NAS	30030361
GO:0008177	Function	Succinate dehydrogenase (quinone) activity	IEA
GO:0009055	Function	Electron transfer activity	TAS	9533030
GO:0016020	Component	Membrane	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	ISS
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	9533030
GO:0046872	Function	Metal ion binding	IEA
GO:0048039	Function	Ubiquinone binding	IBA
GO:0048039	Function	Ubiquinone binding	ISS
GO:0050433	Process	Regulation of catecholamine secretion	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA

Other IDs

• MIM: 602690
• HGNC: 10683
• e!Ensembl: ENSG00000204370

Protein

• UniProt ID: O14521
• Protein name: Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (CybS) (CII-4) (Malate dehydrogenase [quinone] cytochrome b small subunit) (QPs3) (Succinate dehydrogenase complex subunit D) (Succinate-ubiquinone oxidoreductase cytochrome b
• Protein function: Membrane-anchoring 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:10482792, Pu
• PDB: 8GS8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05328	CybS	40 → 158		Family

• Sequence:

  MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSK
  AASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDAL
  QKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL

• Sequence length: 159

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-Stratakis syndrome	Likely pathogenic; Pathogenic	rs1291507545, rs1314133983, rs2135267557, rs2135269697, rs1555187574, rs2135269740, rs2135269378, rs2135269692, rs2135277333, rs587782210, rs2498917264, rs2498895877, rs786203067, rs786202403, rs786203932, rs2135264652, rs2498900155, rs761615413, rs778969755, rs104894303, rs80338843, rs80338844, rs80338845, rs104894302, rs104894304, rs104894305, rs104894306, rs387906358, rs80338842, rs397514034, rs104894307, rs587776648, rs104894308, rs104894309, rs104894310, rs587776649, rs2135269244, rs876659130, rs876658477, rs878854589, rs878854590, rs878854591, rs878854594, rs886041237, rs2498904623, rs2498895509, rs2498895308, rs202198133, rs2498904892, rs2498900134, rs2498905197, rs2498904353, rs1060503769, rs1060503773, rs1060503770, rs786205436, rs1131691065, rs1131691064, rs1131691063, rs1306475361, rs1555187010, rs1555187083, rs1050032491, rs1555187601, rs1555187566, rs1555186662, rs1555187583, rs80338847, rs1566691921, rs1566690018, rs587776644, rs1592778958, rs1592786159, rs1592777386, rs864321644, rs1865686266, rs1865621296, rs1865655722, rs1865655347, rs1865657237, rs1865654197	RCV002242783 RCV002540717 RCV001994720 RCV001874725 RCV001913139 RCV001958656 RCV001948334 RCV001953697 RCV001935311 RCV001998098 RCV002514740 RCV003775621 RCV003102704 RCV002228760 RCV002228740 RCV002228995 RCV002601701 RCV002863222 RCV002889946 RCV002994598 RCV003005720 RCV001851718 RCV002228000 RCV000763227 RCV002512869 RCV002228003 RCV002228004 RCV002228005 RCV002228006 RCV002512870 RCV002228007 RCV002228008 RCV002228010 RCV002228011 RCV002512871 RCV002228012 RCV001851719 RCV000007326 RCV003777647 RCV002228961 RCV002229212 RCV000232971 RCV000233424 RCV000228216 RCV002229350 RCV002229731 RCV005220713 RCV003785485 RCV003783589 RCV003781386 RCV003792869 RCV003804227 RCV003804738 RCV003807334 RCV002230838 RCV002230840 RCV002230658 RCV002526633 RCV002525847 RCV002527068 RCV002231154 RCV003766764 RCV002524414 RCV001857228 RCV002524415 RCV002524416 RCV002230988 RCV002481730 RCV002231524 RCV002232089 RCV002235529 RCV002530564 RCV002232947 RCV002532294 RCV000703186 RCV002234117 RCV002538159 RCV002537516 RCV005225202 RCV005213441 RCV001873376 RCV002240202 RCV002241296 RCV002241158 RCV002241201 RCV002241089 RCV002241480 RCV003770276 RCV002241352 RCV002241653	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs778969755	RCV005926755	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cowden syndrome 3	Likely pathogenic; Pathogenic	rs1291507545, rs1314133983, rs2135267557, rs2135269697, rs1555187574, rs2135269740, rs2135269378, rs2135269692, rs2135277333, rs587782210, rs2498917264, rs2498895877, rs786203067, rs786202403, rs786203932, rs2135264652, rs2498900155, rs761615413, rs778969755, rs104894303, rs80338843, rs80338844, rs80338845, rs104894302, rs104894304, rs104894305, rs104894306, rs387906358, rs80338842, rs397514034, rs104894307, rs587776648, rs104894308, rs104894309, rs104894310, rs587776649, rs2135269244, rs876659130, rs876658477, rs878854589, rs878854590, rs878854591, rs878854594, rs886041237, rs2498904623, rs2498895509, rs2498895308, rs202198133, rs2498904892, rs2498900134, rs2498905197, rs2498904353, rs1060503769, rs1060503773, rs1060503770, rs786205436, rs1131691065, rs1131691064, rs1131691063, rs1306475361, rs1555187010, rs1555187083, rs1050032491, rs1555187601, rs1555186662, rs1555187583, rs80338847, rs1566691921, rs1566690018, rs587776644, rs1592778958, rs1592786159, rs1592777386, rs864321644, rs1865686266, rs1865621296, rs1865655722, rs1865655347, rs1865657237, rs1865654197	RCV002242783 RCV002540717 RCV001994720 RCV001874725 RCV001913139 RCV001958656 RCV001948334 RCV001953697 RCV001935311 RCV001998098 RCV002514740 RCV003775621 RCV003102704 RCV002228760 RCV002228740 RCV002228995 RCV002601701 RCV002863222 RCV002889946 RCV002994598 RCV003005720 RCV001851718 RCV002228000 RCV002228002 RCV002512869 RCV002228003 RCV002228004 RCV002228005 RCV002228006 RCV002512870 RCV002228007 RCV002228008 RCV002228010 RCV002228011 RCV002512871 RCV002228012 RCV001851719 RCV002512872 RCV003777647 RCV002228961 RCV002229212 RCV002229658 RCV002229659 RCV002229347 RCV002229350 RCV002229731 RCV005220713 RCV003785485 RCV003783589 RCV003781386 RCV003792869 RCV003804227 RCV003804738 RCV003807334 RCV002230838 RCV002230840 RCV002230658 RCV002526633 RCV002525847 RCV002527068 RCV002231154 RCV003766764 RCV002524414 RCV001857228 RCV002524415 RCV002524416 RCV002230988 RCV002231524 RCV002232089 RCV002235529 RCV002530564 RCV002232947 RCV002532294 RCV000703186 RCV002234117 RCV002538159 RCV002537516 RCV005225202 RCV005213441 RCV001873376 RCV002240202 RCV002241296 RCV002241158 RCV002241201 RCV002241089 RCV002241480 RCV003770276 RCV002241352 RCV002241653	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fatal infantile mitochondrial cardiomyopathy	Pathogenic	rs786205436	RCV000171136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs1314133983, rs1555187574, rs2135269692, rs587782210, rs2135277783, rs876658477, rs2498917388, rs1555187083, rs2498917264, rs2498895877, rs2498899719, rs786203067, rs786202403, rs786203932, rs2498905122, rs104894303, rs80338843, rs80338844, rs80338845, rs104894302, rs104894304, rs104894305, rs104894306, rs387906358, rs121908983, rs80338842, rs80338847, rs397514034, rs104894307, rs587776648, rs104894308, rs104894309, rs104894310, rs587776649, rs2135269244, rs876659130, rs876659276, rs878854590, rs878854591, rs756995021, rs886041237, rs2498899507, rs2498905386, rs2498904353, rs2498905415, rs80338846, rs1060503769, rs1060503773, rs1060503770, rs786205436, rs1131691065, rs1131691064, rs1131691063, rs1306475361, rs1050032491, rs1555187601, rs1555187566, rs755047928, rs1555186992, rs1555187635, rs1592778958, rs1592786159, rs1592777386, rs864321644	RCV002334687 RCV002324301 RCV006287522 RCV000130886 RCV002257334 RCV002324587 RCV002452475 RCV002320714 RCV002452160 RCV002338627 RCV002376356 RCV000166207 RCV000165195 RCV000167450 RCV002428739 RCV000492417 RCV000492087 RCV000162448 RCV000567104 RCV000566289 RCV000221353 RCV002381243 RCV000492341 RCV001013655 RCV002433446 RCV000492533 RCV006287147 RCV000492163 RCV004948132 RCV002453249 RCV000222413 RCV000221327 RCV004018584 RCV000492772 RCV004085101 RCV000217241 RCV000219575 RCV000215839 RCV003343720 RCV002258843 RCV003177713 RCV000492278 RCV003311139 RCV003278399 RCV004950702 RCV004508394 RCV002433463 RCV002323759 RCV001021499 RCV000492697 RCV000492287 RCV000569878 RCV000492092 RCV000492559 RCV000492485 RCV002413385 RCV001018787 RCV002341190 RCV004023413 RCV005480384 RCV000565451 RCV000575825 RCV000574656 RCV000570334 RCV000561906 RCV002369946 RCV001018360 RCV001011028 RCV001016589 RCV001019494 RCV001023716 RCV002445259 RCV005268977 RCV004671273 RCV002451642	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pheochromocytoma and paraganglioma	Pathogenic; Likely pathogenic	rs786203067, rs2135264652, rs80338843, rs80338844, rs80338845, rs104894304, rs104894305, rs104894306, rs80338842, rs80338847, rs587776649, rs876658477, rs886041237, rs80338846, rs1306475361, rs1555187010, rs1555187083, rs1555187570, rs1050032491, rs1555187601, rs1865690107	RCV000505306 RCV005058919 RCV000020518 RCV000020519 RCV000020520 RCV000155750 RCV000505384 RCV004802924 RCV000020522 RCV000020523 RCV000505302 RCV002282052 RCV000505366 RCV000020521 RCV000505295 RCV000505381 RCV000505333 RCV000505320 RCV000505385 RCV000505276 RCV001194404	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited phaeochromocytoma and paraganglioma excluding NF1	Likely pathogenic; Pathogenic	rs80338844, rs387906358, rs587776649, rs1592777386	RCV005865159 RCV005865160 RCV005865161 RCV005865450	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex 2 deficiency, nuclear type 3	Pathogenic; Likely pathogenic	rs786205436, rs2135277333, rs80338844, rs397514034, rs587776648, rs587776649, rs876658477, rs1131691065, rs1555187566	RCV000186596 RCV003475442 RCV003472995 RCV005394133 RCV002504760 RCV005041998 RCV003475006 RCV002291278 RCV002481730	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial complex II deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs80338844	RCV000763227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Likely pathogenic; Pathogenic	rs876659130	RCV005054185	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paragangliomas with sensorineural hearing loss	Likely pathogenic; Pathogenic	rs1291507545, rs1314133983, rs2135267557, rs2135269697, rs1555187574, rs2135269740, rs2135269378, rs2135269692, rs2135277333, rs587782210, rs2498917264, rs2498895877, rs786203067, rs786202403, rs786203932, rs2135264652, rs2498900155, rs761615413, rs778969755, rs104894303, rs80338843, rs80338844, rs80338845, rs104894302, rs104894304, rs104894305, rs104894306, rs387906358, rs80338842, rs397514034, rs104894307, rs587776648, rs104894308, rs104894309, rs104894310, rs587776649, rs2135269244, rs876659130, rs876658477, rs878854589, rs878854590, rs878854591, rs878854594, rs886041237, rs2498904623, rs2498895509, rs2498895308, rs202198133, rs2498904892, rs2498900134, rs2498905197, rs2498904353, rs1060503769, rs1060503773, rs1060503770, rs786205436, rs1131691065, rs1131691064, rs1131691063, rs1306475361, rs1555187010, rs1555187083, rs1050032491, rs1555187601, rs1555186662, rs1555187583, rs80338847, rs1566690018, rs587776644, rs1592778958, rs1592786159, rs1592777386, rs864321644, rs1865686266, rs1865621296, rs1865655722, rs1865655347, rs1865657237, rs1865654197	RCV002242783 RCV002540717 RCV001994720 RCV001874725 RCV001913139 RCV001958656 RCV001948334 RCV001953697 RCV001935311 RCV001998098 RCV002514740 RCV003775621 RCV003102704 RCV002228760 RCV002228740 RCV002228995 RCV002601701 RCV002863222 RCV002889946 RCV002994598 RCV003005720 RCV001851718 RCV002228000 RCV002228002 RCV002512869 RCV002228003 RCV002228004 RCV002228005 RCV002228006 RCV002512870 RCV002228007 RCV002228008 RCV002228010 RCV002228011 RCV002512871 RCV002228012 RCV001851719 RCV002512872 RCV003777647 RCV002228961 RCV002229212 RCV002229658 RCV002229659 RCV002229347 RCV002229350 RCV002229731 RCV005220713 RCV003785485 RCV003783589 RCV003781386 RCV003792869 RCV003804227 RCV003804738 RCV003807334 RCV002230838 RCV002230840 RCV002230658 RCV002526633 RCV002525847 RCV002527068 RCV002231154 RCV003766764 RCV002524414 RCV001857228 RCV002524415 RCV002524416 RCV002230988 RCV002231524 RCV002232089 RCV002235529 RCV002530564 RCV002232947 RCV002532294 RCV002234117 RCV002538159 RCV002537516 RCV005225202 RCV005213441 RCV001873376 RCV002240202 RCV002241296 RCV002241158 RCV002241201 RCV002241089 RCV002241480 RCV003770276 RCV002241352 RCV002241653	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Likely pathogenic; Pathogenic	rs1291507545, rs1314133983, rs2135267557, rs2135269697, rs1555187574, rs2135269740, rs2135269378, rs2135269692, rs2135277333, rs587782210, rs2498917264, rs2498895877, rs786203067, rs786202403, rs786203932, rs2135264652, rs2498900155, rs761615413, rs778969755, rs864321644, rs104894303, rs80338843, rs587776644, rs80338844, rs80338845, rs104894302, rs104894304, rs104894305, rs104894306, rs387906358, rs80338842, rs397514034, rs104894307, rs587776648, rs104894308, rs104894309, rs104894310, rs587776649, rs2135269244, rs876659130, rs876658477, rs878854589, rs878854590, rs878854591, rs878854594, rs886041237, rs2498904629, rs2498904623, rs2498895509, rs2498895308, rs202198133, rs2498904892, rs2498900134, rs2498905197, rs2498904353, rs1060503769, rs1060503773, rs1060503770, rs786205436, rs1131691065, rs1131691064, rs1131691063, rs1306475361, rs1555187010, rs1555187083, rs1050032491, rs1555187601, rs1555187566, rs1555186662, rs1555187583, rs80338847, rs1566691921, rs1566690018, rs1592778958, rs1592786159, rs1592777386, rs1865686266, rs1865621296, rs1865655722, rs1865655347, rs1865657237, rs1865654197	RCV002242783 RCV002540717 RCV001994720 RCV001874725 RCV001913139 RCV001958656 RCV001948334 RCV001953697 RCV001935311 RCV001998098 RCV002514740 RCV003775621 RCV003102704 RCV002228760 RCV002228740 RCV002228995 RCV002601701 RCV002863222 RCV002889946 RCV002994598 RCV003005720 RCV000203535 RCV001851718 RCV002228000 RCV002243626 RCV000007304 RCV002512869 RCV002228003 RCV002228004 RCV002228005 RCV000193132 RCV002512870 RCV002228007 RCV002228008 RCV002228010 RCV002228011 RCV002512871 RCV000007324 RCV001851719 RCV002512872 RCV003777647 RCV002228961 RCV001294091 RCV000232971 RCV000233424 RCV000228216 RCV002229350 RCV001523821 RCV003405196 RCV005220713 RCV003785485 RCV003783589 RCV003781386 RCV003792869 RCV003804227 RCV003804738 RCV003807334 RCV002230838 RCV000465313 RCV002230658 RCV002526633 RCV002525847 RCV002527068 RCV002231154 RCV003766764 RCV002524414 RCV001857228 RCV002524415 RCV002524416 RCV002230988 RCV002481730 RCV002231524 RCV002232089 RCV002235529 RCV002530564 RCV002232947 RCV002532294 RCV000703186 RCV002234117 RCV002538159 RCV002537516 RCV005225202 RCV005213441 RCV001873376 RCV002240202 RCV002241296 RCV002241158 RCV002241201 RCV002241089 RCV002241480 RCV003770276 RCV002241352 RCV002241653	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma/paraganglioma syndrome 1	Pathogenic; Likely pathogenic	rs1314133983, rs2135269358, rs2135277706, rs2135267337, rs761615413, rs104894303, rs80338843, rs587776644, rs80338844, rs80338845, rs104894302, rs587776645, rs104894304, rs104894305, rs587776646, rs104894306, rs387906358, rs121908983, rs80338842, rs80338847, rs397514034, rs104894307, rs587776648, rs104894308, rs104894309, rs104894310, rs587776649, rs876659130, rs878854589, rs878854590, rs878854591, rs2498900005, rs2498917523, rs2498904892, rs1060503773, rs1555187067, rs1555187566, rs1555187574, rs1555186662, rs1555187583, rs1566691921, rs1566690018	RCV003451913 RCV001800260 RCV001807891 RCV001808000 RCV005863775 RCV000007295 RCV000007296 RCV000007298 RCV000007303 RCV000007305 RCV000007307 RCV000007308 RCV000007309 RCV000007310 RCV000007311 RCV000007312 RCV004018581 RCV000007314 RCV000007315 RCV000007316 RCV000007317 RCV004018582 RCV000007321 RCV000007322 RCV002288472 RCV004018583 RCV005041998 RCV004589964 RCV000232971 RCV000233424 RCV000228216 RCV003485897 RCV003450597 RCV005602087 RCV000465313 RCV000578040 RCV002481730 RCV000660262 RCV000660261 RCV000660263 RCV000703186 RCV004027133 RCV004028788	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma/paraganglioma syndrome 4	Likely pathogenic; Pathogenic	rs80338845	RCV002288471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SDHD-related disorder	Likely pathogenic; Pathogenic	rs80338844, rs1555187574	RCV004748507 RCV003420005	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1592777386	RCV005912393	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOID SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoid tumor of intestine	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COWDEN DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cowden syndrome	Likely benign; Conflicting classifications of pathogenicity	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL CANCER	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	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 3	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ 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
Pheochromocytoma/paraganglioma syndrome 3	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	Pubtator	22170724	Associate	★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	17727250		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	9299238		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	22170724		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	19522821		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	15774781		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	11156372, 11323050, 11397905, 11404820, 12111639, 12381538, 12618761, 12883710, 12928344, 14674304, 14974914, 15064708, 15331017, 15365827, 15774781, 15788647, 15883706, 15883710, 16098460, 16288654, 16728571, 16741618, 16787982, 16954163, 17102077, 17102079, 17102085, 17102086, 17102093, 17102110, 17119341, 17298303, 17308434, 17526943, 17576205, 17639058, 18211978, 18307724, 18362451, 18510707, 18519664, 19215943, 19233206, 19261994, 19289533, 19368708, 19399650, 19411806, 19522821, 19546167, 19576851, 19584903, 20236688, 20484225, 20505258, 20890271, 20980436, 21262951, 21455202, 22270996, 22566194, 22836345, 22946750, 22948026, 23162105, 23175444, 23493432, 23512077, 23555188, 24096807, 24134185, 24189137, 24322175, 24334767, 24466223, 24599702, 24625421, 24781345, 24977658, 25004247, 25300370, 25405498, 25735893, 25800244, 25973039, 26067997, 26916530, 27539324, 27856506, 28332880, 28902732, 29124493, 29545045, 30352407, 30421319, 30484866, 30957378, 31194241, 31348302, 31492822, 31705439		★☆☆☆☆ 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
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27171833		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27171833		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27171833		★☆☆☆☆ Found in Text Mining only
Atypical pulmonary carcinoid tumor	Pulmonary Carcinoid Tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	22948026	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25149476, 37974462	Associate	★☆☆☆☆ Found in Text Mining only
Bronchospasm	Bronchospasm	HPO_DG			★☆☆☆☆ 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
Capillary hemangioma of retina	Capillary Hemangioma Of Retina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25149476, 25328978, 28164237	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid syndrome	Carcinoid Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoid tumor of intestine	Carcinoid Tumor Of Intestine	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	12007193		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25894340, 36308411	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of Endocrine Gland	Endocrine Gland cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18678321, 24625421, 34014604, 36455002	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26008905		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG	26008905		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	26008905, 34012134	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney complex	Pubtator	19522821	Associate	★☆☆☆☆ Found in Text Mining only
Carney Triad	Carney Triad	BEFREE	19522821, 25622899, 25808178		★☆☆☆☆ Found in Text Mining only
Carney-Stratakis syndrome	Carney-Stratakis Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carotid Body Paraganglioma	Carotid Body Paraganglioma	BEFREE	11391796, 12381538, 16080474, 22441002, 23083876, 24599702, 25328978, 30484866		★☆☆☆☆ Found in Text Mining only
Carotid Body Paraganglioma	Carotid Body Paraganglioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	21643982		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	21643982		★☆☆☆☆ 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, 25808178, 28739378		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36949947	Associate	★☆☆☆☆ Found in Text Mining only
Color Blindness, Blue	Color blindness	BEFREE	30484866		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12883710		★☆☆☆☆ 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 pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ 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	18728283, 22351710, 25800244, 26476567, 27573198		★☆☆☆☆ 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
Cutaneous Melanoma	Melanoma	BEFREE	28662141		★☆☆☆☆ 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	Mental Depression	BEFREE	30744396		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	28164237		★☆☆☆☆ 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
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	22170724	Associate	★☆☆☆☆ 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
Excessive tearing	Excessive Tearing	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	19289533, 22293219		★☆☆☆☆ Found in Text Mining only
Extra-Adrenal Paraganglioma	Extra-Adrenal Paraganglioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatal infantile mitochondrial cardiomyopathy	Mitochondrial cardiomyopathy	CLINVAR_DG	26008905		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	25149476		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	16741618, 17535989, 19522821, 19522824, 20418362, 21505157, 22544211, 23174939, 24625421, 25205505, 25540324, 25808178, 28768491, 30301441		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	17804857		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	19522821, 22955521, 23174939, 24625421, 25883251	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12625753		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25735893		★☆☆☆☆ 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
Glomus tympanicum paraganglioma	Glomus tympanicum paraganglioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomus vagale tumor	Glomus Vagale Tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	25695889		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	25149476, 28164237		★☆☆☆☆ 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, 17102082, 18826997, 19550080, 19584903, 21224366, 21752889, 22948026, 23555188, 25300370, 26008905, 30106970, 30584686, 32023584, 33851515, 34654328, 34906457, 35460558, 36614070, 38144572, 39754145	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	HPO_DG			★☆☆☆☆ 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
hereditary paraganglioma	Hereditary Paraganglioma	BEFREE	10657297, 11156372, 11343322, 11404820, 11526495, 11605159, 11692162, 11897817, 12782822, 15331017, 15479192, 15531530, 15905695, 16405730, 17041923, 17487275, 17973943, 18211978, 18978332, 19368708, 20111059, 21617718, 21619495, 22441002, 23586964, 24465590, 24781345, 28902732, 29339836		★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINGEN_DG	10323245, 10657297, 11156372, 11391798, 12111639, 16103922, 21784903, 23175444, 8981955		★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINVAR_DG	10657297, 11156372, 11343322, 11391796, 11897817, 12782822, 12811540, 15066320, 15328326, 17102085, 17406045, 17563904, 17576205, 19258401, 19454582, 19825962, 21348866, 21792967, 21937622, 21945342, 22241717, 22456618, 23175444, 24436918, 25695889, 26096992		★☆☆☆☆ 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
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	23242522		★☆☆☆☆ Found in Text Mining only
Hypertension associated with pheochromocytoma	Hypertension associated with pheochromocytoma	HPO_DG			★☆☆☆☆ 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	11605159	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	18510707		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal carcinoid	Intestinal carcinoid	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	BEFREE	24394736		★☆☆☆☆ 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
Keratosis	Keratosis	LHGDN	17727250		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	31332543		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23083876	Associate	★☆☆☆☆ 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
Leprosy	Leprosy	BEFREE	19618083, 20963340, 21269435, 23871279, 28562758, 29782495, 30616580, 31757558		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25894340		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Carcinoid Syndrome	Carcinoid tumor of intestine	ORPHANET_DG	12007193		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	23083876		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12883710		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25149476, 28164237		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12883710, 15795514, 15883710, 16249420, 18826997, 20702724, 22566157, 23072324, 25973039, 26041263, 28585398, 28720665, 28884434		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	15623805, 24449662, 28613942		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25261935, 26327518, 28662141		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	CTD_human_DG	25261935		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma	Melanoma	Pubtator	25261935, 26327518, 28108517	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melanoma Cutaneous Malignant	Melanoma	Pubtator	28662141	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30744396		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	Microcephaly	BEFREE	24096807, 28902732		★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex II Deficiency	Mitochondrial complex deficiency	Pubtator	11605159, 26008905, 34012134	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	22972948, 24367056, 26008905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	BEFREE	24367056, 26008905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	UNIPROT_DG	24367056, 26008905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	ORPHANET_DG	24367056		★★☆☆☆ 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	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	20885442	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	34012134	Associate	★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	11391796		★☆☆☆☆ Found in Text Mining only
Mononeuropathies	Mononeuropathies	BEFREE	29176796		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	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	14739490, 15531530, 15788647, 17102080, 17119341, 20215394		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	15531530, 15788647, 17119341, 20215394, 22584711		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	15883710		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11313745, 11391798, 12007193, 12381538, 12386824, 12509798, 12625753, 12883710, 15064708, 15264276, 15328326, 15331017, 15746863, 15774781, 15788647, 16288654, 17041923, 17102085, 17102089, 17487275, 19289533, 19522823, 19550080, 20111059, 20236688, 21262951, 21547462, 21969497, 22889736, 23291190, 23457139, 23481210, 23512077, 24096807, 24334767, 24375508, 24449662, 24465590, 24739310, 25149476, 25300370, 25405498, 26327518, 26359261, 27171833, 27402879, 27967220, 28099933, 28374168, 28884434, 28902732, 29386252, 30106970, 30421319, 30584686, 30856326, 31307109, 9781639		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10657297, 11156372, 11323050, 11343322, 11391796, 11391798, 11605159, 11897817, 12000816, 12111639, 12782822, 12811540, 15328326, 15479192, 15989954, 16061558, 16080474, 16080530, 16314641, 16317055, 17308434, 17406045, 17563904, 17667967, 17804857, 17848412, 17973943, 18463041, 18551016, 18692411, 18826997, 19072999, 19075037, 19223516, 19258401, 19351833, 19454582, 19576851, 19584903, 19802898, 19825962, 20208144, 20418362, 21348866, 21792967, 21937622, 21945342, 22025150, 22170724, 22241717, 22290790, 22456618, 23175444, 23433498, 23512077, 23666964, 24102379, 24758185, 24859990, 25014000, 25275255, 25300370, 25494863, 25695889, 25720320, 25741136, 25791839, 26008905, 26273102, 27279923, 27785149, 9683583		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15331017		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15331017	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	12386824, 20071235, 20592014, 30349380		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	28432847		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	15788647, 17119341, 17121518, 19336503, 20236688, 21262951, 24189137, 27460956, 28432847		★☆☆☆☆ 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
Obesity	Obesity	Pubtator	30782949	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33649794	Associate	★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	UNIPROT_DG	10657297, 11343322, 11391796, 11391798, 15328326		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	BEFREE	11391796, 11391798, 11397905, 11526495, 11897817, 12007193, 12111639, 12114404, 12218630, 12351569, 12386824, 12509798, 12618904, 12883710, 14595761, 15064708, 15066320, 15095273, 15328326, 15331017, 15365827, 15479192, 15531530, 15746863, 15762191, 15774781, 15795514, 15883704, 15883710, 15905695, 16080530, 16098460, 16249420, 16288654, 17041923, 17102079, 17102080, 17102085, 17102086, 17119341, 17298303, 17308434, 17487275, 17526943, 17535989, 17576205, 17848412, 17936061, 17973943, 18211978, 18362451, 18519664, 18551016, 18826997, 19075037, 19190077, 19233206, 19261994, 19289533, 19336503, 19454582, 19522821, 19522823, 19550080, 19584903, 20071235, 20111059, 20215394, 20236688, 20418362, 20484225, 20498024, 20505258, 20592014, 20890271, 20980436, 21455202, 21547462, 21561462, 21619495, 21742608, 21752889, 21784903, 21792967, 22270996, 22293219, 22441002, 22456618, 22566194, 22584701, 22836345, 22948026, 23079201, 23099648, 23162105, 23175444, 23242522, 23282968, 23493432, 23512077, 23555188, 24134185, 24322175, 24367056, 24466223, 24625421, 24739310, 24758179, 25004247, 25300370, 25328978, 25405498, 25676472, 25695889, 25758995, 25827221, 26067997, 26427697, 26776272, 26916530, 27402879, 27485256, 27634942, 27659016, 27700540, 27769919, 27967220, 28036268, 28179334, 28332880, 28613942, 28720665, 28902732, 29777207, 30106970, 30349380, 30421319, 30584686, 30611952, 31194241, 31279790, 31348302, 31705439, 31734934, 8733047, 9299238		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	LHGDN	11605159, 11897817, 12111639, 12114404, 12782822, 15066320, 17227803, 18211978, 18561749, 18840642		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	Pubtator	11897817, 15331017, 16061554, 16080474, 16080530, 16288654, 17208193, 18826997, 19075037, 19269919, 19522821, 19550080, 19576851, 19584903, 20205103, 20418362, 20505258, 20842377, 20890271, 20980436, 21455202, 21862453, 22170724, 22261759, 22270996, 22889736, 22948026, 23174939, 23282968, 23512077, 23555188, 24466223, 25300370, 25328978, 25459911, 25758995, 25819804, 25883251, 27700540, 27789751, 28122379, 29386252, 29777207, 30106970, 31348302, 31365623, 32948182, 33031286, 36178902, 39306716, 40235160	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	CTD_human_DG	21318381		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraganglioma	Paraganglioma	CGI_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	CLINVAR_DG	10657297, 11156372, 11323050, 11343322, 11391796, 11391798, 11605159, 11897817, 12000816, 12111639, 12114404, 12509798, 12612654, 12782822, 12811540, 15066320, 15235042, 15328326, 15479192, 16080474, 16317055, 17406045, 17563904, 17576205, 17667967, 17973943, 18211978, 18551016, 18561749, 18826997, 19072999, 19075037, 19258401, 19351833, 19454582, 19584903, 19802898, 19825962, 20098451, 21348866, 21792967, 21937622, 21945342, 22025150, 22241717, 22456618, 22517554, 23175444, 23433498, 23512077, 23902947, 24436918, 25275255, 25494863, 26008905, 26269449, 27279923		★★☆☆☆ 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	BEFREE	19522821, 20418362, 23060355, 23282968, 29339836, 30301441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	Paraganglioma and gastric stromal sarcoma	GENOMICS_ENGLAND_DG			★★☆☆☆ 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 of head and neck	Paraganglioma of head and neck	BEFREE	11323050, 11526495, 12618761, 14974914, 17102086, 19454582, 20310044, 21224366, 21561462, 21792967, 22948026, 23072324, 24134185, 26096992, 27573198, 30375904, 9683583		★☆☆☆☆ Found in Text Mining only
Paraganglioma of head and neck	Paraganglioma of head and neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
PARAGANGLIOMAS 2 (disorder)	Paraganglioma	BEFREE	21742608		★☆☆☆☆ Found in Text Mining only
Paragangliomas 3	Paraganglioma	Pubtator	18362451, 19261994, 19269919, 19584903, 20890271, 34654328	Associate	★☆☆☆☆ Found in Text Mining only
PARAGANGLIOMAS 3	Paraganglioma	BEFREE	21742608		★☆☆☆☆ Found in Text Mining only
PARAGANGLIOMAS 4	Paraganglioma	BEFREE	21617718, 21742608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paragangliomas with Sensorineural Hearing Loss	Paragangliomas with Sensorineural Hearing Loss	CLINVAR_DG	10657297, 11156372, 11323050, 11343322, 11391796, 11391798, 11605159, 11897817, 12000816, 12111639, 12114404, 12509798, 12612654, 12782822, 12811540, 15066320, 15235042, 15328326, 15479192, 16080474, 16317055, 17406045, 17563904, 17576205, 17667967, 17973943, 18211978, 18551016, 18561749, 18826997, 19072999, 19075037, 19258401, 19351833, 19454582, 19584903, 19802898, 19825962, 20098451, 21348866, 21792967, 21937622, 21945342, 22025150, 22241717, 22456618, 22517554, 23175444, 23433498, 23512077, 23902947, 24436918, 25275255, 25494863, 26008905, 26269449, 27279923		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paroxysmal hypertension	Paroxysmal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	CLINVAR_DG	10657297, 11156372, 11323050, 11343322, 11391796, 11391798, 11605159, 11897817, 12000816, 12111639, 12114404, 12509798, 12612654, 12782822, 12811540, 15066320, 15235042, 15328326, 15479192, 16080474, 16317055, 17406045, 17563904, 17576205, 17667967, 17973943, 18211978, 18551016, 18561749, 18826997, 19072999, 19075037, 19258401, 19351833, 19454582, 19584903, 19802898, 19825962, 20098451, 21348866, 21792967, 21937622, 21945342, 22025150, 22241717, 22456618, 22517554, 23175444, 23433498, 23512077, 23902947, 24436918, 25275255, 25494863, 26008905, 26269449, 27279923		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	BEFREE	11156372, 11323050, 11397905, 11404820, 12111639, 12381538, 12618761, 12883710, 12928344, 14674304, 14974914, 15064708, 15331017, 15365827, 15774781, 15788647, 15883706, 15883710, 16098460, 16288654, 16728571, 16741618, 16787982, 17102077, 17102079, 17102085, 17102086, 17102093, 17102110, 17119341, 17298303, 17308434, 17576205, 18211978, 18307724, 18362451, 18510707, 18519664, 19215943, 19233206, 19261994, 19289533, 19368708, 19399650, 19411806, 19522821, 19546167, 19576851, 19584903, 20236688, 20484225, 20505258, 20890271, 21262951, 21455202, 22270996, 22566194, 22836345, 22946750, 22948026, 23162105, 23175444, 23493432, 23555188, 24096807, 24134185, 24189137, 24322175, 24599702, 24625421, 24781345, 24977658, 25300370, 25405498, 25735893, 25800244, 26067997, 26916530, 27856506, 28332880, 29124493, 29545045, 30352407, 30484866, 30957378, 31194241, 31348302, 31492822, 31705439		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	UNIPROT_DG	11156372, 12000816, 15328326		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	Pubtator	11404820, 12000816, 15331017, 16061554, 16098460, 16288654, 16405730, 18826997, 19072999, 19368708, 20205103, 20484225, 20505258, 20842377, 20890271, 20980436, 21262951, 21455202, 22170724, 22270996, 22573489, 22948026, 23174939, 23512077, 23555188, 24466223, 24625421, 24925884, 25300370, 25819804, 25973039, 28099933, 30106970, 31348302, 31365623, 32741965, 33397040, 34536193, 34906457, 35149119, 36013579, 36178902, 40235160	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	LHGDN	16314641, 17308434, 17576205		★★★★★ 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	Pheochromocytoma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	BEFREE	16249420, 18551016		★☆☆☆☆ 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
Pituitary Adenoma	Pituitary adenoma	BEFREE	31348302		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	22170724, 22889736, 25494863, 31348302	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34360981	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	29534684		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulsatile Tinnitus	Pulsatile Tinnitus	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		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18728283, 22351710, 25800244, 26476567, 27573198		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	22170724	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	11391796		★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small intestine carcinoid	Intestinal carcinoid	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12883710		★☆☆☆☆ Found in Text Mining only
Succinate-coenzyme Q reductase deficiency	Succinate-Coenzyme Q Reductase Deficiency	BEFREE	24367056, 26008905		★☆☆☆☆ Found in Text Mining only
Thoracic Neoplasms	Thoracic neoplasm	Pubtator	18826997	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15328326, 25149476, 28164237		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25149476, 28164237		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	25149476, 28164237	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	22241717		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	15905695		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37899663	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	26327518		★☆☆☆☆ 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
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	12928344, 14739490, 15788647, 16728571, 17121518, 17639058, 19336503, 29124493		★☆☆☆☆ Found in Text Mining only