NDDRF knowledgebase

A total of 22 results found based on your keywords

RF_ID	Disease Name	poly_category	variablesites	Species	RF_Name	Association	Condition	PMID
3372	Amyotrophic Lateral Sclerosis	CNV		Human	Rare CNVs	RF		18313986
3199	Amyotrophic Lateral Sclerosis	CNV		Human	ATXN2	RF		26208502
3203	Frontotemporal Lobar Degeneration	CNV		Human	ATXN2	RF	ATXN2 intermediary repeat length>=29	25098532
2841	Amyotrophic Lateral Sclerosis	CNV		Human	ATXN2	RF		30847648
3200	Amyotrophic Lateral Sclerosis	CNV		Human	ATXN2	RF		23197749
3209	Frontotemporal Lobar Degeneration	CNV		Human	C9orf72	RF	C9orf72 repeat expansions; All FTD patients with mutations had a positive family history for dementia or ALS	25108559
3219	Multiple System Atrophy	CNV	22q13.31	Human	chromosome 22	RF		29187220
3218	Multiple System Atrophy	CNV	22q12.3	Human	chromosome 22	RF		29187220
3224	Multiple System Atrophy	CNV	4q35.2	Human	chromosome 4	RF		29187220
3221	Multiple System Atrophy	CNV	4q28.3	Human	chromosome 4	RF		29187220
3223	Multiple System Atrophy	CNV	4q34.1	Human	chromosome 4	RF		29187220
3220	Multiple System Atrophy	CNV	4q13.1	Human	chromosome 4	RF		29187220
3222	Multiple System Atrophy	CNV	4q32.1	Human	chromosome 4	RF		29187220
3226	Multiple System Atrophy	CNV	5q35.3	Human	chromosome 5	RF		29187220
3225	Multiple System Atrophy	CNV	5p15.33	Human	chromosome 5	RF		29187220
3314	Hereditary Motor and Sensory Neuropathy	CNV	17p11.2	Human	PMP22	RF	17p11.2 duplication	9183252
3315	Hereditary Motor and Sensory Neuropathy	CNV	17p11.2	Human	PMP22	RF	17p11.2 duplication	8179301
3707	Alzheimer's Disease	CNV		Human	SIGLEC14	RF		34208838
2596	Amyotrophic Lateral Sclerosis	CNV		Human	SMN1	RF	abnormal SMN1 copy numbers	19922137
2723	Amyotrophic Lateral Sclerosis	CNV		Human	SMN1	RF	one or three copies of SMN1 gene were pooled	16931506
2661	Amyotrophic Lateral Sclerosis	CNV		Human	SMN1	RF	three copies	16931506
2796	Amyotrophic Lateral Sclerosis	CNV		Human	SMN1	RF	one copy	16931506