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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
author nathandunn
date Sun, 25 Sep 2016 21:59:32 -0400
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ClinVarVariant:9271	NM_000161.2(GCH1):c.262C>T (p.Arg88Trp)	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:7730309	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9291	GCH1, DEL	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:17111153	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:39198	NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:39148	NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:13496	NM_002693.2(POLG):c.1399G>A (p.Ala467Thr)	NCBITaxon:9606	Homo sapiens	NCBIGene:5428	POLG			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:66099	NM_022089.3(ATP13A2):c.2629G>A (p.Gly877Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:20853184	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1220	ATP13A2, 22-BP DUP	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:16964263|PMID:21724849	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9276	GCH1, IVS2, A-G, -2	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:10732814	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:208620	NM_000360.3(TH):c.283delG (p.Ala95Argfs)	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:13514	NM_002693.2(POLG):c.1532G>A (p.Ser511Asn)	NCBITaxon:9606	Homo sapiens	NCBIGene:5428	POLG			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:17420318	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9283	NM_000161.2(GCH1):c.671A>G (p.Lys224Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:9667588|PMID:12391354	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9273	GCH1, 2-BP INS	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:7730309	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:13508	NM_002693.2(POLG):c.2869G>T (p.Ala957Ser)	NCBITaxon:9606	Homo sapiens	NCBIGene:5428	POLG			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:12210792	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:30834	NM_022089.3(ATP13A2):c.2552_2553delTT (p.Phe851Cysfs)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:21094623	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1942	NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:17060595|PMID:16172858|PMID:16157909	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12324	NM_199292.2(TH):c.1234C>A (p.Gln412Lys)	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:7814018|PMID:10407773|PMID:8528210	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12334	NM_199292.2(TH):c.1076G>T (p.Cys359Phe)	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:10585338	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:39183	NM_198578.3(LRRK2):c.4309A>C (p.Asn1437His)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9288	NM_000161.2(GCH1):c.142C>T (p.Gln48Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:11359069	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9278	NM_000161.2(GCH1):c.431A>C (p.His144Pro)	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:9576537	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12326	NM_199292.2(TH):c.1481C>T (p.Thr494Met)	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:11246459	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:143196	NM_022089.3(ATP13A2):c.490C>T (p.Arg164Trp)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1940	NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:17215492|PMID:16436782|PMID:16966502|PMID:16269541|PMID:15852371|PMID:16436781|PMID:15680457|PMID:16401756|PMID:15726496|PMID:16533964|PMID:23075850|PMID:19283415|PMID:17353388|PMID:17050822|PMID:15811455|PMID:18704525|PMID:15929036|PMID:17060595|PMID:21115957|PMID:16240353|PMID:19020907|PMID:16728648|PMID:20008657|PMID:16311269|PMID:15680455|PMID:15680456|PMID:18981379|PMID:16960813|PMID:16145815|PMID:17938369|PMID:15732108	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:216934	NM_001103146.1(GIGYF2):c.2378C>T (p.Ala793Val)	NCBITaxon:9606	Homo sapiens	NCBIGene:26058	GIGYF2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000269	experimental evidence used in manual assertion	PMID:18358451	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:209136	NM_022089.3(ATP13A2):c.943G>A (p.Gly315Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:26633545	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12331	NM_199292.2(TH):c.1198-24T>A	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:11281275	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1937	NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:15541309|PMID:16003110|PMID:15541308|PMID:18591067	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:39215	NM_198578.3(LRRK2):c.5620G>T (p.Glu1874Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12328	NM_199292.2(TH):c.1010G>A (p.Arg337His)	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:11246459	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:4810	NM_012179.3(FBXO7):c.1144+1G>T	NCBITaxon:9606	Homo sapiens	NCBIGene:25793	FBXO7			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:19038853	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12333	TH, -70G-A	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:9235905|PMID:17696123	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9275	GCH1, IVS1, A-G, -2	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:10732814	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9285	NM_000161.2(GCH1):c.404T>A (p.Ile135Lys)	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:10208576	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1219	NM_022089.3(ATP13A2):c.1306+5G>A	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:16964263|PMID:21724849	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1939	NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:15541309	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:21011	NR_104387.1(TAF1):n.5894C>T	NCBITaxon:9606	Homo sapiens	NCBIGene:6872	TAF1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:66098	NM_022089.3(ATP13A2):c.2561T>G (p.Met854Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:22388936|PMID:495089	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12325	NM_199292.2(TH):c.707T>C (p.Leu236Pro)	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:20198643|PMID:8817341|PMID:10407773	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9277	NM_000161.2(GCH1):c.3G>C (p.Met1Ile)	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:9576537	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:4809	NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:25793	FBXO7			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:19038853	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:39212	NM_198578.3(LRRK2):c.5605A>G (p.Met1869Val)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:13495	NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys)	NCBITaxon:9606	Homo sapiens	NCBIGene:5428	POLG			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:11431686|PMID:2725645|PMID:2067633|PMID:14467368|PMID:12210792|PMID:15351195|PMID:11897778	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:39164	NM_198578.3(LRRK2):c.3342A>G (p.Leu1114=)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12332	TH, 1-BP DEL, 291C	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:9732974|PMID:10407773	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1218	ATP13A2, 1-BP DEL, 3057C	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:16964263|PMID:21724849	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9284	NM_000161.2(GCH1):c.586G>T (p.Ala196Ser)	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:10078749	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9274	NM_000161.2(GCH1):c.602G>A (p.Gly201Glu)	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:11026444|PMID:7730309	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:30833	NM_022089.3(ATP13A2):c.1101_1102dupGA (p.Thr368Argfs)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:20310007	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9862	TAF1, SVA RETROTRANSPOSON INSERTION	NCBITaxon:9606	Homo sapiens	NCBIGene:6872	TAF1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:17273961	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9272	NM_000161.2(GCH1):c.401A>T (p.Asp134Val)	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:7730309	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9289	GCH1, IVS5, G-A, +1	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:11486899	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:9279	GCH1, IVS2, G-C, +1	NCBITaxon:9606	Homo sapiens	NCBIGene:2643	GCH1			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:9576537	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12327	NM_199292.2(TH):c.698G>A (p.Arg233His)	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:9732974|PMID:10407773|PMID:9703425	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:188890	NM_000360.3(TH):c.1282C>T (p.Gln428Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:24753243|PMID:20430833	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:4811	NM_012179.3(FBXO7):c.65C>T (p.Thr22Met)	NCBITaxon:9606	Homo sapiens	NCBIGene:25793	FBXO7			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:19038853	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12329	NM_199292.2(TH):c.826A>C (p.Thr276Pro)	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:11246459	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1938	NM_198578.3(LRRK2):c.4321C>T (p.Arg1441Cys)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:19667187|PMID:15541309|PMID:7898705|PMID:16269541	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1936	NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:19020907|PMID:16003110|PMID:16533964|PMID:19308469|PMID:15541308	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:209135	NM_022089.3(ATP13A2):c.348-9_351del	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:26633545	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:12330	NM_199292.2(TH):c.941C>T (p.Thr314Met)	NCBITaxon:9606	Homo sapiens	NCBIGene:7054	TH			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:11246459	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1941	NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:15541309|PMID:15880653|PMID:9276200|PMID:16321986	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1221	NM_022089.3(ATP13A2):c.1510G>C (p.Gly504Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000304	traceable author statement used in manual assertion	PMID:17485642	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:1943	NM_198578.3(LRRK2):c.7153G>A (p.Gly2385Arg)	NCBITaxon:9606	Homo sapiens					HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:4808	NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly)	NCBITaxon:9606	Homo sapiens	NCBIGene:25793	FBXO7			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion	PMID:18513678	http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred
ClinVarVariant:39131	NM_198578.3(LRRK2):c.1256C>T (p.Ala419Val)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			HP:0002548	Parkinsonism with favorable response to dopaminergic medication	ECO:0000501	evidence used in automatic assertion		http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl	inferred