Search results for mecp2

308 hits were found for mecp2

#	Family	MCID	Name	MIFTS	Score
1		LBS001	Lubs X-Linked Mental Retardation Syndrome	51	16.149

2	P	ENC054	Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations	30	14.830

3	P	RTT002	Rett Syndrome	80	8.514

4		MCP054	Mecp2 Disorders	17	7.190

5	c	MCP022	Mecp2-Related Severe Neonatal Encephalopathy	13	5.120

6	P	MNT135	Mental Retardation, X-Linked, Syndromic 13	47	4.616

7		ALC028	Alacrima, Achalasia, and Mental Retardation Syndrome	64	3.937

8	c	ATS367	Autism X-Linked 3	28	3.928

9	P	ANG001	Angelman Syndrome	69	3.721

10	P	ATS364	Autism	70	3.536

11	P	MCR010	Microcephaly	59	3.353

12	P	ATT013	Attention Deficit-Hyperactivity Disorder	65	3.149

13	P	EPL164	Epilepsy	71	3.085

14	P	ENC018	Encephalopathy	61	3.048

15	P	PRV006	Pervasive Developmental Disorder	57	2.895

16		BRX001	Bruxism	50	2.827

17	P	HYP265	Hypotonia	43	2.796

18	P	SCH015	Schizophrenia	74	2.787

19	c	SYS001	Systemic Lupus Erythematosus	86	2.501

20	P	DYS154	Dystonia	65	2.501

21	c	ATS007	Autism Spectrum Disorder	67	2.482

22		DWN001	Down Syndrome	70	2.433

23	P	FRG001	Fragile X Syndrome	70	2.400

24	P	ASP001	Asperger Syndrome	48	2.361

25		SPC010	Speech and Communication Disorders	47	2.361

26		WST001	West Syndrome	61	2.338

27		SPS057	Spasticity	45	2.270

28		LRN003	Learning Disability	49	2.087

29	P	SCL018	Scoliosis	60	2.074

30	P	PRD006	Prader-Willi Syndrome	59	2.032

31	P	SCK002	Sick Sinus Syndrome	55	1.999

32	P	RSP003	Respiratory Failure	74	1.980

33		GST092	Gastroesophageal Reflux	67	1.980

34		FCL014	Focal Epilepsy	54	1.980

35		ANX010	Anxiety	73	1.960

36		HYP748	Hypertelorism	50	1.960

37		NNS032	Non-Syndromic X-Linked Intellectual Disability	43	1.960

38	P	MYP004	Myopathy	70	1.909

39	P	GLL020	Gallbladder Disease	57	1.909

40	P	BPL003	Bipolar Disorder	56	1.909

41		SMT008	Smith-Magenis Syndrome	54	1.909

42		KBG001	Kbg Syndrome	53	1.909

43	P	HYP077	Hypertrichosis	50	1.909

44	P	SYN064	Syndromic X-Linked Intellectual Disability	25	1.909

45	c	INF065	Infantile Hypotonia	24	1.622

46		VSL002	Visual Epilepsy	59	1.600

47		ALP095	Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	45	1.437

48	c	FTL006	Fetal Alcohol Spectrum Disorder	43	1.437

49		CNT097	Central Hypoventilation Syndrome, Congenital	71	1.413

50	c	ALP101	Alpha-Thalassemia	62	1.413

51		LRY029	Laryngomalacia	47	1.413

52		FCL073	Facial Hypertrichosis	15	1.413

53	P	PTT014	Pitt-Hopkins Syndrome	63	1.386

54		LNN001	Lennox-Gastaut Syndrome	57	1.386

55		MWT001	Mowat-Wilson Syndrome	54	1.386

56		CHR174	Christianson Syndrome	46	1.386

57	P	SYN057	Syndromic Intellectual Disability	41	1.386

58		GTP001	Gait Apraxia	31	1.386

59	c	ATS476	Autosomal Dominant Non-Syndromic Intellectual Disability 32	21	1.386

60	P	RTN008	Retinitis Pigmentosa	79	1.350

61	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	70	1.350

62		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	66	1.350

63	P	CRN015	Cornelia De Lange Syndrome	64	1.350

64	P	ERL057	Early Infantile Epileptic Encephalopathy	63	1.350

65	c	HYP794	Hyperoxaluria, Primary, Type I	63	1.350

66		PHL006	Phelan-Mcdermid Syndrome	62	1.350

67	P	PRM002	Primary Hyperoxaluria	62	1.350

68		TMT001	Timothy Syndrome	61	1.350

69	P	STS008	Sotos Syndrome 1	61	1.350

70		CFF002	Coffin-Lowry Syndrome	60	1.350

71	c	OTP006	Otopalatodigital Syndrome, Type I	60	1.350

72		BNG009	Benign Epilepsy with Centrotemporal Spikes	58	1.350

73		DSS008	Disease of Mental Health	58	1.350

74		IMM072	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	57	1.350

75	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	52	1.350

76		KGM001	Kagami-Ogata Syndrome	51	1.350

77		MNN009	Meningoencephalitis	49	1.350

78	c	PTT029	Pitt-Hopkins-Like Syndrome 1	49	1.350

79		PTC002	Potocki-Lupski Syndrome	48	1.350

80		IMM011	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	47	1.350

81	c	PRM031	Primary Autosomal Recessive Microcephaly	47	1.350

82		CHL012	Childhood Disintegrative Disease	44	1.350

83		LND001	Landau-Kleffner Syndrome	44	1.350

84	c	PNT039	Pontocerebellar Hypoplasia, Type 7	43	1.350

85		PHY002	Physical Disorder	42	1.350

86	c	ENC057	Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1	42	1.350

87		VLP002	Valproate Embryopathy	41	1.350

88	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	41	1.350

89	P	MGL010	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a	40	1.350

90	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	38	1.350

91	c	ATS203	Autosomal Dominant Non-Syndromic Intellectual Disability	36	1.350

92		STR015	Stereotypic Movement Disorder	34	1.350

93		ECH002	Echolalia	34	1.350

94		SPC003	Specific Developmental Disorder	31	1.350

95		ATY003	Atypical Autism	31	1.350

96	P	CHR084	Chromosomal Disease	30	1.350

97		ALC002	Alcohol-Related Neurodevelopmental Disorder	30	1.350

98	P	ELC007	Electroclinical Syndrome	30	1.350

99	c	CHR565	Chromosomal Deletion Syndrome	25	1.350

100	c	CNG031	Congenital Nervous System Abnormality	24	1.350

101		BNS002	Bone Structure Disease	24	1.350

102		NNT041	Neonatal Period Electroclinical Syndrome	23	1.350

103	c	INF033	Infancy Electroclinical Syndrome	21	1.350

104		CHR569	Chromosomal Duplication Syndrome	18	1.350

105	c	XLN230	X-Linked Monogenic Disease	18	1.350

106		FLY001	Flying Phobia	17	1.350

107		ATX038	Ataxia and Polyneuropathy, Adult-Onset	45	0.195

108	P	SZR006	Seizure Disorder	56	0.157

109	P	TRM003	Tremor	54	0.144

110	P	LPS004	Lupus Erythematosus	61	0.131

111	P	GST053	Gastric Cancer	83	0.123

112		ATM095	Autoimmune Disease	62	0.115

113		CNS004	Constipation	58	0.115

114		ATN005	Autonomic Dysfunction	46	0.107

115	P	NRB001	Neuroblastoma	72	0.097

116		ALP042	Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity	66	0.097

117	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	50	0.097

118	P	GLM045	Glioma	63	0.087

119		47X002	47,xyy	49	0.087

120		GLL048	Glial Tumor	45	0.087

121	P	CHR345	Chronic Pain	44	0.087

122	P	CLR023	Colorectal Cancer	99	0.075

123	P	PLM036	Pulmonary Fibrosis	65	0.075

124		HYP266	Hypoxia	57	0.075

125		APR001	Apraxia	52	0.075

126	P	EMR017	Emery-Dreifuss Muscular Dystrophy 1, X-Linked	46	0.075

127	P	MYC033	Myoclonus	46	0.075

128	P	ATS366	Autism X-Linked 2	42	0.075

129		SPS019	Spastic Paraparesis	38	0.075

130	P	HPT023	Hepatocellular Carcinoma	100	0.062

131	P	PRS040	Prostate Cancer	97	0.062

132	P	BRS047	Breast Cancer	97	0.062

133	P	ATX030	Ataxia-Telangiectasia	82	0.062

134	P	RHM011	Rheumatoid Arthritis	80	0.062

135		KPS004	Kaposi Sarcoma	75	0.062

136	P	HRT032	Heart Disease	75	0.062

137		CNG034	Congestive Heart Failure	69	0.062

138	P	MJR001	Major Depressive Disorder	68	0.062

139		ART001	Arterial Tortuosity Syndrome	66	0.062

140		TTN003	Tetanus	65	0.062

141		AND019	Andersen Cardiodysrhythmic Periodic Paralysis	65	0.062

142	P	MVM001	Movement Disease	63	0.062

143		DPR016	Depression	63	0.062

144	c	SVR001	Severe Acute Respiratory Syndrome	62	0.062

145	P	TRC086	Trichohepatoenteric Syndrome 1	62	0.062

146	P	CRB101	Cerebrooculofacioskeletal Syndrome 1	60	0.062

147	P	THL005	Thalassemia	60	0.062

148		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	58	0.062

149		MNT002	Mental Depression	58	0.062

150	c	FBR046	Fibrosis of Extraocular Muscles, Congenital, 1	57	0.062

151	P	FTL001	Fetal Alcohol Syndrome	57	0.062

152	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	55	0.062

153	P	ALP106	Alport Syndrome 1, X-Linked	55	0.062

154		THR013	Thoracic Outlet Syndrome	54	0.062

155	P	OVR082	Overgrowth Syndrome	50	0.062

156		ABN011	Abnormal Hair, Joint Laxity, and Developmental Delay	50	0.062

157		HYP080	Hypogonadism	50	0.062

158		MCN001	Mucinous Adenocarcinoma	49	0.062

159		BKR002	Baker-Gordon Syndrome	49	0.062

160	c	HYD064	Hydrocephalus, Congenital, 1	48	0.062

161		HLX001	Helix Syndrome	47	0.062

162	P	PRC019	Precocious Puberty	46	0.062

163		CRB004	Cerebral Artery Occlusion	45	0.062

164		APP009	Appendix Adenocarcinoma	44	0.062

165	c	CHR682	Chronic Bilirubin Encephalopathy	39	0.062

166		RPD005	Rapidly Involuting Congenital Hemangioma	38	0.062

167		GLB021	Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies	38	0.062

168		CHR178	Chromosomal Triplication	35	0.062

169	c	FML272	Familial Sick Sinus Syndrome	34	0.062

170		NRN002	Neuronitis	32	0.062

171		PLY150	Polykaryocytosis Inducer	31	0.062

172		MTY003	Mutyh Polyposis	30	0.062

173		15Q008	15q Duplication Syndrome and Related Disorders	9	0.062

174	c	AMY091	Amyotrophic Lateral Sclerosis 1	89	0.044

175	P	PNC035	Pancreatic Cancer	84	0.044

176	c	FNC027	Fanconi Anemia, Complementation Group a	81	0.044

177		INS024	Insulin-Like Growth Factor I	79	0.044

178	P	MDL005	Medulloblastoma	77	0.044

179		PLM134	Pulmonary Fibrosis, Idiopathic	77	0.044

180	c	ATR087	Atrial Standstill 1	75	0.044

181		ADR007	Adrenoleukodystrophy	75	0.044

182		BRN028	Brain Cancer	74	0.044

183		END057	Endometrial Cancer	74	0.044

184	c	SPN225	Spondyloarthropathy 1	73	0.044

185	P	RTN024	Retinoblastoma	73	0.044

186	P	HNT016	Huntington Disease	72	0.044

187	P	TBR001	Tuberous Sclerosis	70	0.044

188	P	ART022	Arthritis	69	0.044

189	P	SLP006	Sleep Apnea	69	0.044

190	P	CRN037	Craniosynostosis	68	0.044

191		OBS002	Obsessive-Compulsive Disorder	68	0.044

192		RCK004	Rickets	68	0.044

193	P	PLM037	Pulmonary Hypertension	67	0.044

194	c	PRM196	Premature Ovarian Failure 1	67	0.044

195		ALP100	Alpha-Thalassemia/mental Retardation Syndrome, X-Linked	66	0.044

196		OST159	Osteogenic Sarcoma	66	0.044

197		GLL008	Gilles De La Tourette Syndrome	66	0.044

198	P	MCR115	Microvascular Complications of Diabetes 5	66	0.044

199	c	MCR129	Microvascular Complications of Diabetes 1	66	0.044

200		AND002	Androgen Insensitivity Syndrome	66	0.044

201	P	HYD006	Hydrocephalus	66	0.044

202		LWC002	Lowe Oculocerebrorenal Syndrome	65	0.044

203		YMN001	Yemenite Deaf-Blind Hypopigmentation Syndrome	65	0.044

204		BRR014	Barrett Esophagus	65	0.044

205		DGR001	Digeorge Syndrome	64	0.044

206	P	ADN016	Adenocarcinoma	64	0.044

207	P	RHB003	Rhabdomyosarcoma	63	0.044

208		INC021	Incontinentia Pigmenti	63	0.044

209	P	ANR048	Aniridia 1	63	0.044

210		WLK001	Walker-Warburg Syndrome	63	0.044

211		ANR007	Anorexia Nervosa	63	0.044

212		LPD008	Lipid Metabolism Disorder	62	0.044

213	P	SPN046	Spinal Muscular Atrophy	62	0.044

214	P	BCK002	Beckwith-Wiedemann Syndrome	62	0.044

215		LVR012	Liver Cirrhosis	62	0.044

216		NTR005	Nutritional Deficiency Disease	62	0.044

217		FTT001	Fatty Liver Disease	61	0.044

218	P	ENC004	Encephalitis	61	0.044

219	P	SJG008	Sjogren Syndrome	61	0.044

220		NPH091	Nephrolithiasis, Calcium Oxalate	60	0.044

221		ACN002	Acanthosis Nigricans	60	0.044

222		LNG099	Lung Disease	60	0.044

223		SQM006	Squamous Cell Carcinoma	60	0.044

224	P	FTT008	Fatty Liver Disease, Nonalcoholic 1	60	0.044

225		HYD002	Hydronephrosis	60	0.044

226	P	AXN002	Axenfeld-Rieger Syndrome	59	0.044

227	c	MSC047	Muscular Dystrophy-Dystroglycanopathy , Type a, 1	59	0.044

228	P	BND020	Bone Disease	59	0.044

229	c	HPT016	Hepatitis B	59	0.044

230	P	SLP005	Sleep Disorder	59	0.044

231		PRG009	Progressive Multifocal Leukoencephalopathy	59	0.044

232		CRY035	Cryptorchidism, Unilateral or Bilateral	58	0.044

233		RBS001	Rabies	58	0.044

234		SCC001	Succinic Semialdehyde Dehydrogenase Deficiency	58	0.044

235		CRB197	Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to	57	0.044

236		VSC002	Vascular Dementia	57	0.044

237	c	LSS005	Lissencephaly 1	56	0.044

238	c	ESS001	Essential Tremor	56	0.044

239		ERY051	Erythroleukemia, Familial	56	0.044

240		HPT022	Hepatoblastoma	56	0.044

241		NPH009	Nephrolithiasis	55	0.044

242	P	DYS193	Dystonia 11, Myoclonic	55	0.044

243	P	STR020	Strabismus	55	0.044

244		PPL022	Papilloma	54	0.044

245	c	HPT007	Hepatitis E	53	0.044

246	c	FML008	Familial Retinoblastoma	53	0.044

247	c	CNT035	Central Nervous System Disease	52	0.044

248		CHR073	Choreatic Disease	52	0.044

249	P	MSC003	Muscular Atrophy	52	0.044

250	c	PRM108	Primary Progressive Multiple Sclerosis	51	0.044

251	P	LSS002	Lissencephaly	51	0.044

252		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	51	0.044

253		ALP041	Alopecia, Neurologic Defects, and Endocrinopathy Syndrome	51	0.044

254		STM007	Stomatitis	50	0.044

255		LNG015	Lingual-Facial-Buccal Dyskinesia	50	0.044

256		PLY024	Polymicrogyria	49	0.044

257		CCN002	Cocaine Abuse	49	0.044

258		QDR001	Quadriplegia	48	0.044

259		ATS010	Autosomal Recessive Disease	48	0.044

260		ASP007	Aspiration Pneumonia	48	0.044

261		MCR018	Microcytic Anemia	47	0.044

262		IRN004	Iron-Refractory Iron Deficiency Anemia	47	0.044

263		CHR607	Chorea, Childhood-Onset, with Psychomotor Retardation	47	0.044

264		STR103	Streptococcus Pneumonia	47	0.044

265		HYD005	Hydrocele	46	0.044

266		SQM002	Squamous Cell Papilloma	46	0.044

267		OPD001	Opioid Abuse	46	0.044

268		SGN002	Signet Ring Cell Adenocarcinoma	45	0.044

269		IMM003	Immunoglobulin Alpha Deficiency	45	0.044

270		CRT015	Carotid Artery Occlusion	45	0.044

271	c	ERL020	Early-Onset Schizophrenia	44	0.044

272	c	PCH010	Pachyonychia Congenita 3	44	0.044

273	c	GZP005	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1	44	0.044

274		CRB027	Cerebellar Disease	44	0.044

275		HPT082	Hepatic Adenomas, Familial	44	0.044

276		ORL015	Oral Squamous Cell Carcinoma	43	0.044

277		CYT002	Cytokine Deficiency	42	0.044

278		TRC097	Tracheomalacia	42	0.044

279	c	MNT319	Mental Retardation, Autosomal Dominant 20	42	0.044

280		MCH006	Mechanical Strabismus	42	0.044

281	c	BRT038	Baraitser-Winter Syndrome 1	41	0.044

282		WCK001	Wieacker-Wolff Syndrome	41	0.044

283		PLG004	Plagiocephaly	41	0.044

284		PLY183	Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome	41	0.044

285	c	MCR112	Microvascular Complications of Diabetes 2	41	0.044

286		RDN001	Reading Disorder	40	0.044

287		48X005	48,xyyy	39	0.044

288		ADP007	Adie Pupil	39	0.044

289		FRS019	Farsightedness	38	0.044

290	P	CRB088	Cerebral Atrophy	37	0.044

291		SYS071	Systemic Autoimmune Disease	37	0.044

292		ATX010	Ataxia Neuropathy Spectrum	34	0.044

293		ALR002	Al-Raqad Syndrome	33	0.044

294		ACT064	Acute Necrotizing Encephalitis	33	0.044

295	c	HRD198	Hereditary Dystonia	30	0.044

296	c	RTT008	Rett Syndrome, Congenital Variant	30	0.044

297		HNM002	Hinman Syndrome	27	0.044

298	P	BLT016	Bilateral Polymicrogyria	27	0.044

299		APC009	Apocrine Gland Secretion, Variation in	24	0.044

300	P	PLM064	Pulmonary Sequestration	22	0.044

301		SPC022	Specific Antibody Deficiency	22	0.044

302		THY020	Thyroid Hyalinizing Trabecular Adenoma	21	0.044

303		CHR507	Chromosome Xq27.3-Q28 Duplication Syndrome	21	0.044

304		FXG001	Foxg1 Syndrome	20	0.044

305		BLD137	Blood Group--Ahonen	16	0.044

306		CHR274	Chromosome Xq Duplication	13	0.044

307		SBP003	Subependymal Nodular Heterotopia	13	0.044

308	c	SYS067	Systemic Lupus Erythematosus 15	12	0.044