Details of Disease

General Information of Disease (ID: DISJLFGW)

• Disease Name: Dystonia
• Synonyms: dystonia disorders; dystonia disorder; dystonic disorder; dystonic disease; dystonia
• Disease Class: 8A02: Dystonic disorder
• Definition: A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.
• Disease Hierarchy:
  DISRH5OX: Extrapyramidal and movement disease
  DISJLFGW: Dystonia
• ICD Code:
  ICD-11: ICD-11: 8A02
  Expand ICD-11: '8A02
  Expand ICD-10: 'G24; 'G24.4; 'G24.8
• Disease Identifiers:
  MONDO ID: MONDO_0003441
  MESH ID: D004421
  UMLS CUI: C0013421
  MedGen ID: 3940
  HPO ID: HP:0001332
  SNOMED CT ID: 15802004

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Botulinum toxin type F	DMHNAGO	Approved	NA	[1]
Trihexyphenidyl	DMB19L8	Approved	Small molecular drug	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 38 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADCY5	TTN64VU	Limited	Genetic Variation	[3]
ATP1A2	TT5B6HJ	Limited	Biomarker	[4]
CACNA1A	TTX4QDJ	Limited	Genetic Variation	[5]
CHRNA4	TT4H1MQ	Limited	Biomarker	[6]
DDC	TTN451K	Limited	Biomarker	[7]
LRRK2	TTK0FEA	Limited	Genetic Variation	[8]
MCOLN1	TT9XBVO	Limited	Biomarker	[9]
SLC2A1	TT79TKF	Limited	Genetic Variation	[10]
TREM2	TTQRMSJ	Limited	Biomarker	[11]
ATXN3	TT6A17J	moderate	Genetic Variation	[12]
COL6A3	TT5WCAH	moderate	Genetic Variation	[13]
PDE10A	TTJW4LU	moderate	Biomarker	[14]
SCN8A	TT54ERL	moderate	Biomarker	[15]
TPP1	TTOVYPT	moderate	Genetic Variation	[16]
ATP7B	TTOPO51	Strong	Genetic Variation	[17]
ATXN2	TTPQJ7P	Strong	Genetic Variation	[18]
CACNA1B	TT4FDG6	Strong	Biomarker	[19]
CACNA1E	TTYRP0M	Strong	Biomarker	[20]
CYP2D6	TTVG215	Strong	Biomarker	[21]
DPEP1	TTYUENF	Strong	Biomarker	[22]
DRD2	TTEX248	Strong	Altered Expression	[23]
HPD	TT8DSFC	Strong	Genetic Variation	[24]
KCND3	TTPLQO0	Strong	Genetic Variation	[25]
KCNJ6	TTTIBVP	Strong	Genetic Variation	[26]
KCNT1	TTGJFK1	Strong	Genetic Variation	[27]
LRP2	TTPH1AJ	Strong	Biomarker	[28]
MECP2	TTTAU9R	Strong	Genetic Variation	[29]
PDE2A	TTJGW1Z	Strong	Genetic Variation	[30]
PDGFRB	TTI7421	Strong	Biomarker	[31]
PSEN1	TTZ3S8C	Strong	Genetic Variation	[32]
SLC12A5	TTH6UZY	Strong	Genetic Variation	[33]
SLC19A3	TT9BTWM	Strong	Genetic Variation	[34]
SLC6A3	TTVBI8W	Strong	Biomarker	[10]
SLC6A8	TTYUHB5	Strong	Genetic Variation	[35]
SQSTM1	TTOT2RY	Strong	Genetic Variation	[36]
TH	TTUHP71	Strong	Genetic Variation	[37]
ANPEP	TTPHMWB	Definitive	Biomarker	[38]
HSPA8	TTMQL3K	Definitive	Biomarker	[38]

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC30A10	DTYBI73	Limited	Biomarker	[39]
SLC39A14	DTZ6IJW	Limited	Biomarker	[39]
SLC20A2	DTFD4VB	Strong	Biomarker	[40]
SLC39A8	DTLPQGT	Strong	Genetic Variation	[39]

This Disease Is Related to 4 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPRT1	DEVXTP5	Limited	Biomarker	[41]
MAT1A	DEQ6NC9	Limited	Biomarker	[42]
CYP27A1	DEBS639	Strong	Biomarker	[43]
SPR	DEJVDAT	Strong	CausalMutation	[44]

This Disease Is Related to 107 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAR	OTQNOHR8	Limited	Biomarker	[45]
ARX	OTBGYH25	Limited	Biomarker	[46]
CP	OTM8JE4Y	Limited	Genetic Variation	[47]
DLAT	OT9LBJVN	Limited	Biomarker	[48]
ERCC6	OT2QZKSF	Limited	Biomarker	[49]
FA2H	OT8HA13U	Limited	Genetic Variation	[50]
FOXG1	OTAW57J4	Limited	Biomarker	[51]
GAMT	OTVC87ES	Limited	Biomarker	[52]
GCDH	OTVQMZZN	Limited	Biomarker	[53]
GCNA	OTIU3F9Y	Limited	Biomarker	[54]
GNAL	OTESDTEU	Limited	Genetic Variation	[55]
L2HGDH	OTW6C712	Limited	Biomarker	[56]
ND6	OTG47B7B	Limited	Genetic Variation	[57]
NPC2	OTE9UEJC	Limited	Biomarker	[58]
PCDH12	OT2VANLI	Limited	Genetic Variation	[59]
PDHX	OTG7O271	Limited	Biomarker	[60]
PLA2G6	OT5FL0WU	Limited	Biomarker	[61]
PNPT1	OTBR2Q0F	Limited	Biomarker	[62]
PTS	OTTYWQXR	Limited	Biomarker	[63]
QDPR	OTSKOIUX	Limited	Biomarker	[64]
RNASEH2A	OT8G3G7K	Limited	Biomarker	[65]
RNASEH2B	OT8KHYFY	Limited	Biomarker	[65]
RNASEH2C	OTJL9ZRN	Limited	Biomarker	[65]
SAMHD1	OTBCIBC7	Limited	Biomarker	[66]
SDHAF1	OTDG5VW7	Limited	Biomarker	[67]
TBP	OT6C0S52	Limited	Genetic Variation	[68]
TPK1	OTCHPUD0	Limited	Biomarker	[69]
TREX1	OTQG7K12	Limited	Biomarker	[70]
ATXN1	OTQF0HNR	moderate	Genetic Variation	[12]
ATXN7	OTL3YF1H	moderate	Biomarker	[18]
DNAJC12	OTNU59PT	moderate	Genetic Variation	[71]
SUCLA2	OTMZD4PW	moderate	Biomarker	[72]
TFDP1	OT6RZ7VT	moderate	Altered Expression	[73]
TIMM8A	OTDX9687	moderate	Biomarker	[74]
TOR1AIP2	OT687RIX	moderate	Altered Expression	[75]
TOR1B	OTNEL2PZ	moderate	Biomarker	[76]
ACTB	OT1MCP2F	Strong	Genetic Variation	[77]
ACY1	OT9WU7X3	Strong	Biomarker	[78]
ANO3	OTM34U6Q	Strong	Genetic Variation	[79]
AP1S2	OTZHJFYI	Strong	Biomarker	[80]
APTX	OTPAS5G8	Strong	Biomarker	[81]
ARFGEF2	OTM3CQZT	Strong	Genetic Variation	[82]
ATAD3A	OTWF6HBP	Strong	Genetic Variation	[83]
ATCAY	OTSIAM08	Strong	Biomarker	[84]
ATP1A3	OTM8EG6H	Strong	Genetic Variation	[85]
ATP2B4	OTMWFDAC	Strong	Biomarker	[86]
AUH	OT8VKBXX	Strong	Biomarker	[87]
BCAP31	OTKSACR4	Strong	Genetic Variation	[88]
C19orf12	OTVSJ1AR	Strong	Genetic Variation	[89]
CAMTA2	OT6PIWF4	Strong	Altered Expression	[90]
CHMP2B	OTZA7RJB	Strong	Biomarker	[91]
COA6	OTT52V2I	Strong	Biomarker	[92]
COQ8A	OT1ETSA2	Strong	Genetic Variation	[93]
COX2	OTTMVBJJ	Strong	Biomarker	[92]
COX20	OTXL7EP2	Strong	Biomarker	[92]
CYP2U1	OT6RXLXS	Strong	Genetic Variation	[94]
DBT	OT4KZ5R9	Strong	Genetic Variation	[95]
DNTT	OTFSEF12	Strong	Genetic Variation	[96]
DST	OTHZBM4X	Strong	Genetic Variation	[97]
EEF1A2	OT9Z23K5	Strong	Biomarker	[98]
EMD	OTR8ZANE	Strong	Biomarker	[99]
FBXO7	OTGTN8TJ	Strong	Genetic Variation	[100]
FTL	OTYQA8A6	Strong	Genetic Variation	[101]
GDF10	OTEVXGJ7	Strong	Biomarker	[102]
HCFC1	OT0UCK62	Strong	Genetic Variation	[103]
HIBCH	OTU2VHWR	Strong	Genetic Variation	[104]
HPCA	OTERUPP6	Strong	Genetic Variation	[105]
KCTD17	OTESMJSS	Strong	Biomarker	[19]
KLHL14	OTYOS55H	Strong	Biomarker	[106]
KMT2B	OTMMAZQX	Strong	Biomarker	[107]
LY6E	OTMG16BZ	Strong	Genetic Variation	[18]
MCF2L	OTEURA8N	Strong	Biomarker	[28]
MYORG	OTVK4VMH	Strong	Biomarker	[108]
ND1	OTCLGIXV	Strong	Genetic Variation	[109]
ND3	OT1OC3K3	Strong	Genetic Variation	[110]
NDUFA9	OTMKQJJ8	Strong	Genetic Variation	[111]
NDUFAF6	OTRJMIGT	Strong	Genetic Variation	[112]
NELFE	OTL4E94L	Strong	Biomarker	[22]
NKX2-1	OTCMEJTA	Strong	Genetic Variation	[113]
NUBPL	OTQMCSXT	Strong	Genetic Variation	[114]
PANK1	OT2CZVRT	Strong	Genetic Variation	[100]
PANK2	OTFBW889	Strong	Biomarker	[115]
PDHA1	OTGEU8IK	Strong	Biomarker	[116]
PENK	OT8P3HMP	Strong	Biomarker	[117]
PINK1	OT50NR57	Strong	Genetic Variation	[118]
PLP1	OT8CM9CX	Strong	Biomarker	[119]
PNKD	OT6G9UXN	Strong	Genetic Variation	[120]
POLR1C	OT7DVQB0	Strong	Genetic Variation	[121]
POTEF	OTV3WXYE	Strong	Altered Expression	[77]
PRKN	OTJBN41W	Strong	Genetic Variation	[122]
PRKRA	OTUTVZZU	Strong	Biomarker	[123]
PRRT2	OTCJUBDO	Strong	Genetic Variation	[124]
RAB12	OTM84KTU	Strong	Biomarker	[125]
RBBP6	OTTVG4HU	Strong	Genetic Variation	[126]
RGS9	OTRA1LOC	Strong	Biomarker	[23]
SAR1A	OTSSRVGV	Strong	Biomarker	[68]
SCNM1	OT505E7T	Strong	Biomarker	[127]
SCO2	OTJQQDRS	Strong	Biomarker	[92]
SCP2	OTPAFCPQ	Strong	Biomarker	[128]
SERAC1	OTWH1ULQ	Strong	Genetic Variation	[129]
SETX	OTG3JNOQ	Strong	Genetic Variation	[130]
SGCE	OT9F17JB	Strong	Genetic Variation	[30]
TBC1D24	OTKZUSMD	Strong	Genetic Variation	[131]
TSEN54	OT7MR9LY	Strong	Genetic Variation	[132]
TSPEAR	OT2LKDD0	Strong	Genetic Variation	[133]
TOR1AIP1	OTTG8MAK	Definitive	Biomarker	[38]
TRAF3	OT5TQBGV	Definitive	Biomarker	[38]

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