GCH1 (GTP cyclohydrolase 1)

Gene

• Entrez ID: 2643
• Gene name: GTP cyclohydrolase 1
• Gene symbol: GCH1
• Synonyms (NCBI Gene): DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B
• Chromosome: 14
• Chromosome location: 14q22.2
• Summary: This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41298440	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs41298442	T>C,G	Pathogenic, uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs56127440	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Genic upstream transcript variant, coding sequence variant, missense variant
rs104894433	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs104894434	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894435	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs104894436	C>A	Pathogenic	Missense variant, coding sequence variant
rs104894437	T>A	Pathogenic	Missense variant, coding sequence variant
rs104894438	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894439	C>G	Pathogenic	Missense variant, genic upstream transcript variant, initiator codon variant
rs104894440	T>G	Pathogenic	Missense variant, coding sequence variant
rs104894441	A>T	Pathogenic	Missense variant, coding sequence variant
rs104894442	C>G	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs104894443	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894444	G>A,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs104894445	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852633	G>C	Pathogenic	Missense variant, coding sequence variant
rs139350456	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs200891969	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201255606	C>G,T	Pathogenic	Stop lost, terminator codon variant, intron variant, synonymous variant
rs763294577	G>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs886039378	C>-	Likely-pathogenic	Coding sequence variant, stop gained
rs886039379	AT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs886041708	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs988395114	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064796560	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1353623780	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1393095176	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs1418922853	A>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555358382	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1555358507	C>A,T	Pathogenic	Splice donor variant
rs1555358599	C>A,G	Pathogenic	Splice donor variant
rs1555358604	C>G,T	Pathogenic	Splice acceptor variant
rs1555360034	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555360050	C>G,T	Pathogenic	Splice acceptor variant
rs1555362835	->T	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555362845	AGCTCGTTATCC>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555362905	ACAGGGC>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555362907	T>A,C	Pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant
rs1566658823	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1566687244	G>A,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1566687321	AGGC>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1566687487	->G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1594971274	T>A	Pathogenic	Stop gained, coding sequence variant
rs1594982939	TAC>CTCACA	Pathogenic	Splice donor variant, intron variant
rs1595031221	->C	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1595031524	->CCTC	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1595031674	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1595031768	->AGA	Pathogenic	Inframe insertion, genic upstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002772	hsa-miR-1-3p	Microarray	15685193
MIRT018241	hsa-miR-335-5p	Microarray	18185580
MIRT022842	hsa-miR-124-3p	Microarray	18668037
MIRT002772	hsa-miR-1-3p	Microarray;Other	15685193
MIRT024891	hsa-miR-215-5p	Microarray	19074876
MIRT026625	hsa-miR-192-5p	Microarray	19074876
MIRT029667	hsa-miR-26b-5p	Microarray	19088304
MIRT050671	hsa-miR-18a-5p	CLASH	23622248
MIRT720800	hsa-miR-4802-3p	HITS-CLIP	19536157
MIRT720799	hsa-miR-942-3p	HITS-CLIP	19536157
MIRT720798	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT720797	hsa-miR-494-3p	HITS-CLIP	19536157
MIRT720796	hsa-miR-1827	HITS-CLIP	19536157
MIRT720795	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT720794	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT720793	hsa-miR-8055	HITS-CLIP	19536157
MIRT720800	hsa-miR-4802-3p	HITS-CLIP	19536157
MIRT720799	hsa-miR-942-3p	HITS-CLIP	19536157
MIRT720798	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT720797	hsa-miR-494-3p	HITS-CLIP	19536157
MIRT720796	hsa-miR-1827	HITS-CLIP	19536157
MIRT720795	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT720794	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT720793	hsa-miR-8055	HITS-CLIP	19536157
MIRT1014630	hsa-miR-1	CLIP-seq
MIRT1014631	hsa-miR-124	CLIP-seq
MIRT1014632	hsa-miR-1263	CLIP-seq
MIRT1014633	hsa-miR-1267	CLIP-seq
MIRT1014634	hsa-miR-1306	CLIP-seq
MIRT1014635	hsa-miR-1324	CLIP-seq
MIRT1014636	hsa-miR-193a-3p	CLIP-seq
MIRT1014637	hsa-miR-193b	CLIP-seq
MIRT1014638	hsa-miR-206	CLIP-seq
MIRT1014639	hsa-miR-2115	CLIP-seq
MIRT1014640	hsa-miR-27a	CLIP-seq
MIRT1014641	hsa-miR-27b	CLIP-seq
MIRT1014642	hsa-miR-299-5p	CLIP-seq
MIRT1014643	hsa-miR-323-5p	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014646	hsa-miR-3545-3p	CLIP-seq
MIRT1014647	hsa-miR-3658	CLIP-seq
MIRT1014648	hsa-miR-3673	CLIP-seq
MIRT1014649	hsa-miR-3687	CLIP-seq
MIRT1014650	hsa-miR-3714	CLIP-seq
MIRT1014651	hsa-miR-3910	CLIP-seq
MIRT1014652	hsa-miR-4442	CLIP-seq
MIRT1014653	hsa-miR-4452	CLIP-seq
MIRT1014654	hsa-miR-4456	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT1014657	hsa-miR-4520a-3p	CLIP-seq
MIRT1014658	hsa-miR-4520b-3p	CLIP-seq
MIRT1014659	hsa-miR-4662a-3p	CLIP-seq
MIRT1014660	hsa-miR-4802-5p	CLIP-seq
MIRT1014661	hsa-miR-506	CLIP-seq
MIRT1014662	hsa-miR-513a-5p	CLIP-seq
MIRT1014663	hsa-miR-548ad	CLIP-seq
MIRT1014664	hsa-miR-590-3p	CLIP-seq
MIRT1014665	hsa-miR-613	CLIP-seq
MIRT1014666	hsa-miR-653	CLIP-seq
MIRT1014667	hsa-miR-659	CLIP-seq
MIRT1014668	hsa-miR-668	CLIP-seq
MIRT1014669	hsa-miR-765	CLIP-seq
MIRT1014670	hsa-miR-873	CLIP-seq
MIRT1014671	hsa-miR-876-3p	CLIP-seq
MIRT1014672	hsa-miR-892b	CLIP-seq
MIRT1014673	hsa-miR-9	CLIP-seq
MIRT1014631	hsa-miR-124	CLIP-seq
MIRT1014674	hsa-miR-203	CLIP-seq
MIRT1014675	hsa-miR-2681	CLIP-seq
MIRT1014676	hsa-miR-3201	CLIP-seq
MIRT1014677	hsa-miR-323b-3p	CLIP-seq
MIRT1014678	hsa-miR-3613-3p	CLIP-seq
MIRT1014679	hsa-miR-361-3p	CLIP-seq
MIRT1014647	hsa-miR-3658	CLIP-seq
MIRT1014650	hsa-miR-3714	CLIP-seq
MIRT1014651	hsa-miR-3910	CLIP-seq
MIRT1014659	hsa-miR-4662a-3p	CLIP-seq
MIRT1014680	hsa-miR-4668-3p	CLIP-seq
MIRT1014681	hsa-miR-4694-3p	CLIP-seq
MIRT1014682	hsa-miR-4791	CLIP-seq
MIRT1014683	hsa-miR-499-3p	CLIP-seq
MIRT1014684	hsa-miR-499a-3p	CLIP-seq
MIRT1014661	hsa-miR-506	CLIP-seq
MIRT1014685	hsa-miR-548ac	CLIP-seq
MIRT1014686	hsa-miR-548c-3p	CLIP-seq
MIRT1014687	hsa-miR-548d-3p	CLIP-seq
MIRT1014688	hsa-miR-548m	CLIP-seq
MIRT1014689	hsa-miR-548z	CLIP-seq
MIRT1014690	hsa-miR-605	CLIP-seq
MIRT1014691	hsa-miR-875-5p	CLIP-seq
MIRT1014692	hsa-miR-888	CLIP-seq
MIRT1014636	hsa-miR-193a-3p	CLIP-seq
MIRT1014637	hsa-miR-193b	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT1014672	hsa-miR-892b	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT2000450	hsa-miR-4511	CLIP-seq
MIRT2000451	hsa-miR-4799-5p	CLIP-seq
MIRT2000452	hsa-miR-548b-3p	CLIP-seq
MIRT1014632	hsa-miR-1263	CLIP-seq
MIRT1014634	hsa-miR-1306	CLIP-seq
MIRT2233944	hsa-miR-142-5p	CLIP-seq
MIRT1014636	hsa-miR-193a-3p	CLIP-seq
MIRT1014637	hsa-miR-193b	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT1014657	hsa-miR-4520a-3p	CLIP-seq
MIRT1014658	hsa-miR-4520b-3p	CLIP-seq
MIRT1014663	hsa-miR-548ad	CLIP-seq
MIRT2233945	hsa-miR-561	CLIP-seq
MIRT1014664	hsa-miR-590-3p	CLIP-seq
MIRT2233946	hsa-miR-603	CLIP-seq
MIRT1014667	hsa-miR-659	CLIP-seq
MIRT1014672	hsa-miR-892b	CLIP-seq
MIRT1014673	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003924	Function	GTPase activity	IDA	2463916
GO:0003934	Function	GTP cyclohydrolase I activity	IBA
GO:0003934	Function	GTP cyclohydrolase I activity	IDA	8068008, 11284739
GO:0003934	Function	GTP cyclohydrolase I activity	IDA	3753653, 7730309, 16778797
GO:0003934	Function	GTP cyclohydrolase I activity	IEA
GO:0005515	Function	Protein binding	IPI	9092499, 16696853, 19294699, 21988832, 32296183
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	3753653, 14717702
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IDA	16778797
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10907721
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	2463916, 3318829
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IBA
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IDA	7678411, 9445252
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IEA
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IMP	17101830, 19666465
GO:0006809	Process	Nitric oxide biosynthetic process	NAS	9445252
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	IMP	17717598
GO:0008270	Function	Zinc ion binding	IBA
GO:0008270	Function	Zinc ion binding	IDA	11087827, 14717702
GO:0010460	Process	Positive regulation of heart rate	IEA
GO:0014916	Process	Regulation of lung blood pressure	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	3318829
GO:0031965	Component	Nuclear membrane	IDA
GO:0032496	Process	Response to lipopolysaccharide	IDA	7678411, 9445252
GO:0032496	Process	Response to lipopolysaccharide	IEP	15604419
GO:0032991	Component	Protein-containing complex	IDA	11087823
GO:0034341	Process	Response to type II interferon	IDA	7678411, 9445252, 12607127
GO:0034612	Process	Response to tumor necrosis factor	IDA	9445252
GO:0042416	Process	Dopamine biosynthetic process	IDA	16338639
GO:0042558	Process	Pteridine-containing compound metabolic process	IEA
GO:0042559	Process	Pteridine-containing compound biosynthetic process	IDA	2463916, 3753653, 15721862
GO:0042802	Function	Identical protein binding	IPI	11087827
GO:0042803	Function	Protein homodimerization activity	IPI	16696853
GO:0044306	Component	Neuron projection terminus	TAS	23457032
GO:0046146	Process	Tetrahydrobiopterin metabolic process	IEA
GO:0046654	Process	Tetrahydrofolate biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048265	Process	Response to pain	ISS
GO:0050884	Process	Neuromuscular process controlling posture	IMP	7874165
GO:0051000	Process	Positive regulation of nitric-oxide synthase activity	IDA	12176133, 15721862
GO:0051000	Process	Positive regulation of nitric-oxide synthase activity	IMP	17717598
GO:0051019	Function	Mitogen-activated protein kinase binding	IPI	19294699
GO:2000121	Process	Regulation of removal of superoxide radicals	IMP	19666465

Other IDs

• MIM: 600225
• HGNC: 4193
• e!Ensembl: ENSG00000131979

Protein

• UniProt ID: P30793
• Protein name: GTP cyclohydrolase 1 (EC 3.5.4.16) (GTP cyclohydrolase I) (GTP-CH-I)
• Protein function: Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the e
• PDB: 1FB1, 6Z80, 6Z85, 6Z86, 6Z87, 6Z88, 6Z89, 7ALA, 7ALB, 7ALC, 7ALQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01227	GTP_cyclohydroI	71 → 249	GTP cyclohydrolase I	Domain

• Tissue specificity: TISSUE SPECIFICITY: In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). {ECO:0000269|PubMed:16778797}.
• Sequence:

  MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRS
  EEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDA
  IFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQ
  VQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKT
  REEFLTLIRS

• Sequence length: 250

Pathways

KEGG:

Folate biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal central motor function	Likely pathogenic	rs2140127157	RCV001814484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonia 5	Likely pathogenic; Pathogenic	rs1594989087, rs2140041744, rs2140127425, rs2140041733, rs2140038749, rs2140073988, rs2140127278, rs2140074097, rs1296731359, rs1555362907, rs2140127551, rs2140038846, rs2140041673, rs1555358604, rs2140063480, rs1482120639, rs61762303, rs2504539343, rs2504342839, rs2504540200, rs2504541515, rs2504343638, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440, rs2140073990, rs104894441, rs104894444, rs104894445, rs886039379, rs2504336140, rs2140038951, rs1044089000, rs2504539104, rs988395114, rs1555358507, rs1555358599, rs1555360050, rs1555362835, rs1555362845, rs1418922853, rs1566660298, rs1566687244, rs1566687321, rs1594971274, rs1595031209, rs1595031221, rs1555362843, rs1595031524, rs1595031674, rs1594982939, rs41298440, rs2039866628, rs2039866854, rs2039654207, rs2040580445, rs755556239, rs1474519447	RCV001369910 RCV001377213 RCV001382935 RCV002569017 RCV001814643 RCV001946738 RCV001954666 RCV001949259 RCV001981912 RCV001999954 RCV001866517 RCV002030627 RCV002250010 RCV002250011 RCV002250907 RCV002468715 RCV003062636 RCV003027954 RCV003059765 RCV003066285 RCV003059651 RCV003153160 RCV000009853 RCV000009854 RCV000009855 RCV000009856 RCV000009857 RCV000009859 RCV000009860 RCV000009861 RCV000009868 RCV001390287 RCV003764543 RCV001221402 RCV003783608 RCV003783610 RCV003783613 RCV003783614 RCV003804058 RCV003812778 RCV000811926 RCV003766922 RCV001390286 RCV000555633 RCV000540760 RCV000551452 RCV001388236 RCV001059581 RCV000634835 RCV000634832 RCV000634834 RCV000696865 RCV000699765 RCV000689484 RCV000694754 RCV000793127 RCV000793795 RCV000794013 RCV000806490 RCV000794859 RCV000802195 RCV000796195 RCV000794588 RCV001858704 RCV001004083 RCV001051943 RCV001824413 RCV001223493 RCV001206760 RCV001231564 RCV001290400	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	Pathogenic	rs2140074192, rs137852633	RCV002508111 RCV002508116	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder	Likely pathogenic; Pathogenic	rs2140063480, rs1555360050, rs1566687487	RCV003483884 RCV003483695 RCV000678472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GCH1-related disorder	Likely pathogenic; Pathogenic	rs1418922853	RCV003403617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GTP cyclohydrolase I deficiency	Likely pathogenic; Pathogenic	rs1594989087, rs2140041744, rs2140127425, rs2140041733, rs2140073988, rs2140127278, rs2140074097, rs1296731359, rs1555362907, rs2140127551, rs2140038846, rs61762303, rs2504539343, rs2504342839, rs2504540200, rs2504541515, rs2140073990, rs104894444, rs104894445, rs886039379, rs2504336140, rs2140038951, rs1044089000, rs2504539104, rs2140041673, rs988395114, rs1555358604, rs1555358507, rs1555358599, rs1555360050, rs1555362835, rs1555362845, rs1418922853, rs1566660298, rs1566687244, rs1566687321, rs1566658823, rs1594971274, rs1595031209, rs1595031221, rs1555362843, rs1595031524, rs1595031674, rs1594982939, rs41298440, rs1595031768, rs2039866628, rs2039654207, rs2040580445, rs755556239, rs1474519447	RCV001369910 RCV001377213 RCV001382935 RCV002569017 RCV001946738 RCV001954666 RCV001949259 RCV001981912 RCV001999954 RCV001866517 RCV002030627 RCV003062636 RCV003027954 RCV003059765 RCV003066285 RCV003059651 RCV001851775 RCV001390287 RCV000009873 RCV001221402 RCV003783608 RCV003783610 RCV003783613 RCV003783614 RCV003804058 RCV003812778 RCV000811926 RCV003766922 RCV001390286 RCV000555633 RCV000540760 RCV001387306 RCV001388236 RCV001059581 RCV000634835 RCV000634832 RCV000634834 RCV000696865 RCV000699765 RCV000689484 RCV000694754 RCV000785876 RCV000793127 RCV000793795 RCV000794013 RCV000806490 RCV000794859 RCV000802195 RCV000796195 RCV000794588 RCV000989228 RCV000989229 RCV003769402 RCV001051943 RCV001223493 RCV001206760 RCV001231564 RCV001387127	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GTP cyclohydrolase I deficiency with hyperphenylalaninemia	Pathogenic; Likely pathogenic	rs104894443, rs104894445, rs2504539432	RCV004576896 RCV004576897 RCV004006222	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC ANGIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC PERIPHERAL ANGIOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dopa-responsive dystonia	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DRY EYE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, DRUG-INDUCED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA MUSCULORUM DEFORMANS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA, DOPA-RESPONSIVE	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL TORSION DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC TORSION DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC FAMILIAL DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
6-pyruvoyl-tetrahydropterin synthase deficiency	6-pyruvoyl-tetrahydropterin synthase deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Acute recurrent pancreatitis	Pancreatitis	BEFREE	19014702		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29432188	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Sickle Cell	Sickle cell anemia	Pubtator	24136375, 30031848	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	24136375, 30031848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety disorder	Pubtator	27871051	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	26945673	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	14707037, 21969008, 29596571, 30091833		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12672181		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	14707037, 21969008, 29596571, 30091833		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	21969008	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29436714		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	25439488		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30405245		★☆☆☆☆ Found in Text Mining only
Benign Hereditary Chorea	Benign Hereditary Chorea	BEFREE	10631144		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	LHGDN	15909293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	22770721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	15909293		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	15909293		★☆☆☆☆ Found in Text Mining only
Camptocormia	Camptocormia	BEFREE	24614670		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	15698596		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	15698596		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24136375, 28128438		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24136375, 31082861, 36012132	Associate	★☆☆☆☆ Found in Text Mining only
Catatonia	Catatonia	BEFREE	12370475		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	21963893	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Palsy	Cerebral palsy	BEFREE	14974638, 21935284, 7880338		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	21935284	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Onset Dystonias	Dystonia	BEFREE	10495030, 12023430, 21935284, 24018121, 28087438		★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	10631144	Associate	★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	12785748		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	30031848	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	26215833	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	26215833, 31262291	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	9667588		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22753274		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29351461, 30878404		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18598896		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18598896		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	18598896		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	18598896, 21969008	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	20581851	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18598896		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	40617169	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25783971		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	18374612		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19528375, 31623833		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19528375, 31623833		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25369080	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25369080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	BEFREE	24939974		★☆☆☆☆ Found in Text Mining only
Dyskinesia, Drug-Induced	Dyskinesia	CTD_human_DG	15659429		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	10442251, 15389992, 20425035, 22633640, 24018121, 24844652, 25182701, 28348207		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	24993959, 34221698, 34890878, 35041927, 40617169, 9328244	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	Dystonia	BEFREE	10737119		★☆☆☆☆ Found in Text Mining only
DYSTONIA 12	Dystonia	BEFREE	14628853, 18267263		★☆☆☆☆ Found in Text Mining only
Dystonia 18	Dystonia	Pubtator	20187889	Associate	★☆☆☆☆ Found in Text Mining only
DYSTONIA 18 (disorder)	Dystonia	BEFREE	20425035		★☆☆☆☆ Found in Text Mining only
Dystonia 6, torsion (disorder)	Dystonia	BEFREE	10737119		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	10078749, 10079965, 10987649, 11113234, 11571350, 11956954, 12707079, 15959854, 16606922, 1681782, 16908750, 18044725, 18267263, 19491146, 19735094, 1985454, 19890997, 20082337, 20425035, 20694531, 22166420, 22633640, 23762320, 24844652, 24948553, 24993959, 26100751, 27667361, 28958832, 29289916, 30482316, 30911941, 7695242, 7880338, 8619546, 9328244, 9667588, 9749603, 9921872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Musculorum Deformans	Dystonia	BEFREE	10737119, 11912106, 1677923, 1985454, 9328244, 9778264		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia musculorum deformans type 1	Dystonia musculorum deformans	Pubtator	9328244	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency	Dopa-responsive dystonia	BEFREE	11592814, 22018912		★☆☆☆☆ Found in Text Mining only
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	BEFREE	15505183, 18345435		★☆☆☆☆ Found in Text Mining only
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dystonia, Primary	Dystonia	BEFREE	25192508		★☆☆☆☆ Found in Text Mining only
Dystonia, Secondary	Dystonia	BEFREE	19491146		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	10582612, 9576537	Associate	★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	10737119, 12194383, 9328244		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	20842687, 30411798		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	27826622		★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	BEFREE	12101048		★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral muscular dystrophy 1a	Facioscapulohumeral muscular dystrophy	Pubtator	25369080	Associate	★☆☆☆☆ Found in Text Mining only
Familial Dystonia	Dystonia	BEFREE	1677923, 23284065		★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	BEFREE	10737119, 11912106		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	12707079		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29409010		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36266731	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29409010		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
GTP cyclohydrolase I deficiency	GTP Cyclohydrolase I Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	31706131		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25369080	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29351461		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	28861905, 30482316		★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	21422102		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	36054588	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	10321973, 10987649, 11592814, 16917893, 18276179, 20842687, 26215833, 28079055, 29520738, 9667588, 9921872		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, BH4-Deficient, B	Hyperphenylalaninemia	CLINVAR_DG	10457396, 10496263, 10984670, 11486899, 15303002, 15753436, 16917893, 17101830, 17898029, 19332422, 19491146, 20082337, 20108370, 20491893, 20842687, 23211702, 27246466, 8619546, 8852666, 9667588, 9749603		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, BH4-Deficient, B	Hyperphenylalaninemia	BEFREE	10582612, 12891655, 16267845, 30742839, 7730309		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, BH4-Deficient, B	Hyperphenylalaninemia	GENOMICS_ENGLAND_DG	15753436, 18276179, 21935284, 27604308, 27830117, 7874165		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, BH4-Deficient, B	Hyperphenylalaninemia	UNIPROT_DG	7501255, 9667588		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, BH4-Deficient, B	Hyperphenylalaninemia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, BH4-Deficient, B	Hyperphenylalaninemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, Non-Phenylketonuric	Hyperphenylalaninemia	BEFREE	17188538		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26778769	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	12855421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	12925450, 29596571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	8204666		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	18374612		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	21963893		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	24939974		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	34221698	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22770721, 23246742		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22753274		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19959292		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	20425035		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36072600	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25783971		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29471261, 31706131		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28395739, 30742839		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	28395739	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	21287604		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	24978640		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	22770721		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	12889082, 15786464, 16267845, 18058633, 19566901, 24939974, 27619486, 28389587, 30911941		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28596578		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	14628853, 1677923, 17674414, 18267263, 31706131		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	33349842	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	20823027		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22753274, 29409010		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	8298648, 9566389, 9626667		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	23059057		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	23059057	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11701761		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11701761	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	25270546, 29471261, 31706131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	25270546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	30831189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	31706131		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26215833	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	19014702		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10945765, 11487197, 12451130, 16267845, 16643317, 16708545, 17674414, 17982884, 22030322, 22834832, 24993959, 25181484, 25634433, 26804608, 27185167, 27491309, 27653855, 27825543, 27871051, 28279081, 28348207, 28380328, 29622492, 29724574, 29948246, 29995172, 30314816, 9182249, 9592104, 9626667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	16267845		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	24993959, 25634433, 27871051, 30314816, 32746945, 33349842, 33962918, 39801809, 40617169	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASCAT_DG	25064009, 27182965, 28892059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	19491146		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	24993959, 25181484, 34999542	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	29724574		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	10495030, 11487197, 12889082, 14628853, 15133828, 16606922, 16966503, 17055324, 18752196, 19491146, 22030322, 22166420, 23893446, 24262166, 24614670, 24993959, 27619486, 27667361, 28949038, 28958832, 7582048, 8619546, 8880688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	BEFREE	10661862, 12764051, 7644124, 9182249, 9629849		★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	BEFREE	10737119		★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	10737119		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	29789398, 31623833		★☆☆☆☆ Found in Text Mining only
Phenylketonuria II	Phenylketonuria	BEFREE	18515178, 28801146, 9778264		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	12208136, 24705691		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	25270546, 29471261, 31706131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	25270546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	29471261	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	20187889	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	21287604		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	28558098		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	25270546, 29471261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	25270546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	29471261	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Segawa syndrome	Segawa Syndrome	BEFREE	12891655, 18752196, 19533203, 2514399		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	22293547, 23314412		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	31819149	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31819149		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	24939974		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	11160968		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	GENOMICS_ENGLAND_DG	21935284		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	25439488		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	24136375	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27826622		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35261206, 36196723	Associate	★☆☆☆☆ Found in Text Mining only
Transient hyperphenylalaninemia	Transient hyperphenylalaninemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	9647318		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	22770721, 23246742		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	18598896		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	18598896, 21969008	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	10733643		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	10733643		★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	12764051, 16267845, 16643317, 19735094, 20842687, 22373569, 27667361		★☆☆☆☆ Found in Text Mining only