Abnormality of movement

0100022

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
93963	366231

Phenotype Definition

An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. [HPO:probinson]

Phenotype Comment

Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy.

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr15:48426484	rs1426654	SLC24A5	A>G	5067	22459	68.2	1.476e-16	0.878
chr20:19214390	rs6136658	SLC24A3	G>A	2412	11263	64.26	1.093e-15	0.8346
chr6:22050187	rs1736507	-	C>A	2584	11929	61.0	5.702e-15	0.8433
chr2:26113913	rs78404020	-	A>G	2461	11356	57.14	4.054e-14	0.8445
chr6:93667780	rs9363020	-	G>A	2119	9872	55.09	1.154e-13	0.8366
chr5:106908138	rs163961	EFNA5	A>C	5722	24846	54.29	1.728e-13	0.8961
chr7:101165790	rs60765471	COL26A1	C>T	2334	10760	53.78	2.239e-13	0.8451
chr2:211717706	rs12995612	-	C>G	2984	13488	53.05	3.244e-13	0.8621
chr11:44843134	rs11038167	TSPAN18	A>C	1838	8611	50.88	9.804e-13	0.832
chr7:89690199	rs1990160	-	T>C	5622	24337	49.77	1.729e-12	0.8995
chr6:170242949	rs9396958	-	T>C	2928	13186	49.42	2.063e-12	0.8654
chr2:12738260	rs10221835	-	G>A	4087	17986	48.61	3.124e-12	0.8851
chr1:236085940	rs12038310	-	C>T	2770	12506	48.46	3.366e-12	0.8632
chr17:9586811	rs73975789	USP43	A>G	2463	11197	47.66	5.057e-12	0.8568
chr15:48392165	rs1834640	-	A>G	5961	25663	47.29	6.111e-12	0.9045
chr4:100239319	rs1229984	ADH1B	C>T	5748	24728	44.81	2.175e-11	0.9053
chr17:9703225	rs4791872	-	A>G	2513	11360	44.7	2.292e-11	0.8622
chr2:150445102	rs4618014	-	A>G	2895	12944	44.1	3.124e-11	0.8716
chr20:59517479	rs6124036	-	A>G	2832	12674	43.7	3.819e-11	0.8708
chr2:3313043	rs73133173	EIPR1	A>C	2630	11833	43.62	3.984e-11	0.8665
chr2:22515568	rs12373752	-	A>G	89494	343403	33.93	5.706e-09	1.031
chr6:396321	rs12203592	IRF4	C>T	41507	157408	31.79	1.716e-08	1.036
chr2:22431110	rs1554268	-	T>C	79304	314419	31.28	2.229e-08	0.9711
chr2:60480973	rs359250	-	T>G	67244	266936	28.29	1.046e-07	0.9717
chr23:118672245	rs45537740	CXorf56	G>A	2309	10161	28.01	1.21e-07	0.8843
chr2:22541141	rs12478745	-	G>A	83466	330274	27.76	1.375e-07	0.9729
chr11:112921810	rs59598942	NCAM1	T>C	35196	133378	27.04	1.995e-07	1.035
chr2:60509080	rs1553933	-	T>C	76405	302622	26.5	2.63e-07	0.9732
chr2:22594027	rs12616949	-	G>A	64359	245688	26.44	2.72e-07	1.029
chr3:49808274	rs62262730	IP6K1	T>G	33421	126594	26.21	3.066e-07	1.035
chr2:60500144	rs10202231	-	A>T	89179	352347	26.09	3.261e-07	0.9739
chr3:49817450	rs9829155	IP6K1	T>C	33800	128064	25.92	3.564e-07	1.035
chr8:30847760	rs2042074	-	T>C	74834	286943	25.77	3.85e-07	1.027
chr11:112931624	rs1836799	NCAM1	C>T	38376	145786	24.91	6.007e-07	1.033
chr8:30822094	rs6985028	-	A>G	83117	319245	24.9	6.047e-07	1.026
chr3:49210732	rs7617480	KLHDC8B	C>A	43026	163752	24.88	6.096e-07	1.031
chr3:49834571	rs6809879	CDHR4	A>G	33536	127146	24.67	6.794e-07	1.034
chr7:114015707	rs12705960	FOXP2	A>C	92247	354885	24.65	6.892e-07	1.026
chr11:32201174	rs72908185	-	C>T	9834	40455	24.38	7.902e-07	0.9446
chr6:421281	rs62389423	-	G>A	33772	128093	24.2	8.669e-07	1.034

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr10:114758349	rs7903146	TCF7L2	C>T	53342	40683	30.23	3.832e-08	0.9579
chr10:114756041	rs4506565	TCF7L2	A>T	58490	44473	28.11	1.145e-07	0.9605
chr16:11448517	rs8052717	RMI2	G>A	27399	19363	27.25	1.789e-07	1.054
chr5:31464130	rs115341935	DROSHA	C>A	5489	3639	26.74	2.324e-07	1.119
chr10:114788815	rs12243326	TCF7L2	T>C	52678	40057	24.28	8.345e-07	0.9621
chr10:114808902	rs12255372	TCF7L2	G>T	53435	40559	21.09	4.379e-06	0.9648
chr10:104634956	rs12764049	BORCS7-ASMT	A>G	41693	31772	20.73	5.28e-06	0.9622
chr10:105041253	rs72846169	INA	T>G	10215	8068	20.71	5.336e-06	0.9326
chr7:17632452	rs73080733	-	A>C	2148	1834	20.68	5.425e-06	0.8647
chr10:80290002	rs117315821	-	G>A	4667	3805	20.39	6.329e-06	0.9049
chr11:84213870	rs17734854	DLG2	T>C	32138	22942	20.15	7.16e-06	1.043
chr4:12889196	rs7697521	-	A>G	42676	32487	19.11	1.234e-05	0.9639
chr15:96388560	rs78576507	-	A>G	3096	2023	18.99	1.314e-05	1.134
chr7:133811329	rs418797	-	T>C	27466	19561	18.81	1.443e-05	1.045
chr16:53939594	rs79970796	FTO	G>A	5661	3834	18.39	1.803e-05	1.095
chr1:102723298	rs74107051	-	T>C	1835	1570	18.2	1.992e-05	0.863
chr5:175781262	rs115206011	KIAA1191	G>A	11601	8081	18.16	2.027e-05	1.066
chr16:17646194	rs6498721	-	T>C	6063	4121	18.1	2.093e-05	1.091
chr18:3246289	rs1662349	-	G>A	2983	2472	17.7	2.582e-05	0.891
chr1:9402520	rs479043	SPSB1	T>G	49151	35458	17.69	2.605e-05	1.035

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: F100	Acute intoxication	1/20
ICD: F200	Paranoid schizophrenia	1/20
ICD: F419	Anxiety disorder, unspecified	3/20
ICD: G20	Parkinson's disease	1/20
ICD: K529	Non-infective gastro-enteritis and colitis, unspecified	2/20
ICD: M478	Other spondylosis	3/20
ICD: R296	Tendency to fall, not elsewhere classified	1/20

ID	Name	Top Correlation
ICD-10: A491	Streptococcal infection, unspecified	0/20
ICD-10: B449	Aspergillosis, unspecified	0/20
ICD-10: C029	Tongue, unspecified	0/20
ICD-10: C181	Appendix	0/20
ICD-10: C459	Mesothelioma, unspecified	0/20
ICD-10: C711	Frontal lobe	0/20
ICD-10: C782	Secondary malignant neoplasm of pleura	0/20
ICD-10: C859	Non-Hodgkin's lymphoma, unspecified type	0/20
ICD-10: D101	Tongue	0/20
ICD-10: D333	Cranial nerves	0/20
ICD-10: D361	Peripheral nerves and autonomic nervous system	0/20
ICD-10: E105	With peripheral circulatory complications	0/20
ICD-10: E115	With peripheral circulatory complications	0/20
ICD-10: E274	Other and unspecified adrenocortical insufficiency	0/20
ICD-10: F051	Delirium superimposed on dementia	0/20
ICD-10: F06	Other mental disorders due to brain damage and dysfunction and to physical disease	0/20
ICD-10: F259	Schizoaffective disorder, unspecified	0/20
ICD-10: F402	Specific (isolated) phobias	0/20
ICD-10: F429	Obsessive-compulsive disorder, unspecified	0/20
ICD-10: F432	Adjustment disorders	0/20
ICD-10: F458	Other somatoform disorders	0/20
ICD-10: F99	Mental disorder, not otherwise specified	0/20
ICD-10: G119	Hereditary ataxia, unspecified	0/20
ICD-10: G245	Blepharospasm	0/20
ICD-10: G249	Dystonia, unspecified	0/20
ICD-10: G250	Essential tremor	0/20
ICD-10: G253	Myoclonus	0/20
ICD-10: G258	Other specified extrapyramidal and movement disorders	0/20
ICD-10: G318	Other specified degenerative diseases of nervous system	0/20
ICD-10: G431	Migraine with aura [classical migraine]	0/20
ICD-10: G479	Sleep disorder, unspecified	0/20
ICD-10: G500	Trigeminal neuralgia	0/20
ICD-10: G549	Nerve root and plexus disorder, unspecified	0/20
ICD-10: G552	Nerve root and plexus compressions in spondylosis	0/20
ICD-10: G571	Meralgia paraesthetica	0/20
ICD-10: G589	Mononeuropathy, unspecified	0/20
ICD-10: G610	Guillain-Barre syndrome	0/20
ICD-10: G618	Other inflammatory polyneuropathies	0/20
ICD-10: G628	Other specified polyneuropathies	0/20
ICD-10: G632	Diabetic polyneuropathy	0/20
ICD-10: G809	Infantile cerebral palsy, unspecified	0/20
ICD-10: G834	Cauda equina syndrome	0/20
ICD-10: G938	Other specified disorders of brain	0/20
ICD-10: G951	Vascular myelopathies	0/20
ICD-10: G952	Cord compression, unspecified	0/20
ICD-10: H113	Conjunctival haemorrhage	0/20
ICD-10: H811	Benign paroxysmal vertigo	0/20
ICD-10: I214	Acute subendocardial myocardial infarction	0/20
ICD-10: I460	Cardiac arrest with successful resuscitation	0/20
ICD-10: I700	Atherosclerosis of aorta	0/20
ICD-10: I73	Other peripheral vascular diseases	0/20
ICD-10: I792	Peripheral angiopathy in diseases classified elsewhere	0/20
ICD-10: I99	Other and unspecified disorders of circulatory system	0/20
ICD-10: J370	Chronic laryngitis	0/20
ICD-10: J382	Nodules of vocal cords	0/20
ICD-10: J383	Other diseases of vocal cords	0/20
ICD-10: K076	Temporomandibular joint disorders	0/20
ICD-10: K149	Disease of tongue, unspecified	0/20
ICD-10: K292	Alcoholic gastritis	0/20
ICD-10: K319	Disease of stomach and duodenum, unspecified	0/20
ICD-10: K500	Crohn's disease of small intestine	0/20
ICD-10: K565	Intestinal adhesions [bands] with obstruction	0/20
ICD-10: K824	Cholesterolosis of gallbladder	0/20
ICD-10: L309	Dermatitis, unspecified	0/20
ICD-10: M060	Seronegative rheumatoid arthritis	0/20
ICD-10: M213	Wrist or foot drop (acquired)	0/20
ICD-10: M431	Spondylolisthesis	0/20
ICD-10: M436	Torticollis	0/20
ICD-10: M479	Spondylosis, unspecified	0/20
ICD-10: M480	Spinal stenosis	0/20
ICD-10: M541	Radiculopathy	0/20
ICD-10: M548	Other dorsalgia	0/20
ICD-10: M5490	Dorsalgia, unspecified (Multiple sites in spine)	0/20
ICD-10: M5494	Dorsalgia, unspecified (Thoracic region)	0/20
ICD-10: M5496	Dorsalgia, unspecified (Lumbar region)	0/20
ICD-10: M5499	Dorsalgia, unspecified (Site unspecified)	0/20
ICD-10: M706	Trochanteric bursitis	0/20
ICD-10: M792	Neuralgia and neuritis, unspecified	0/20
ICD-10: M796	Pain in limb	0/20
ICD-10: N039	Unspecified	0/20
ICD-10: N202	Calculus of kidney with calculus of ureter	0/20
ICD-10: N429	Disorder of prostate, unspecified	0/20
ICD-10: N62	Hypertrophy of breast	0/20
ICD-10: R065	Mouth breathing	0/20
ICD-10: R066	Hiccough	0/20
ICD-10: R251	Tremor, unspecified	0/20
ICD-10: R253	Fasciculation	0/20
ICD-10: R258	Other and unspecified abnormal involuntary movements	0/20
ICD-10: R260	Ataxic gait	0/20
ICD-10: R262	Difficulty in walking, not elsewhere classified	0/20
ICD-10: R263	Immobility	0/20
ICD-10: R268	Other and unspecified abnormalities of gait and mobility	0/20
ICD-10: R270	Ataxia, unspecified	0/20
ICD-10: R278	Other and unspecified lack of coordination	0/20
ICD-10: R410	Disorientation, unspecified	0/20
ICD-10: R451	Restlessness and agitation	0/20
ICD-10: R490	Dysphonia	0/20
ICD-10: R498	Other and unspecified voice disturbances	0/20
ICD-10: R500	Fever with chills	0/20
ICD-10: R688	Other specified general symptoms and signs	0/20
ICD-10: R69	Unknown and unspecified causes of morbidity	0/20
ICD-10: T430	Tricyclic and tetracyclic antidepressants	0/20
ICD-10: W010	Home	0/20
ICD-10: W180	Home	0/20
ICD-10: W199	Unspecified place	0/20