Disease Term Disease ID Gene Symbol Classification References Source
Amyotrophic Lateral Sclerosis C0002736 ALS2 Causal Pathogenic evidence from ClinVar - ClinVar
ANG Causal Pathogenic evidence from ClinVar 23941283 ClinVar
ANXA11 Causal Pathogenic evidence from ClinVar 28469040 ClinVar
DCTN1 Causal Pathogenic evidence from ClinVar 23941283 ClinVar
ERBB4 Causal Pathogenic evidence from ClinVar 24119685 ClinVar
FIG4 Causal Pathogenic evidence from ClinVar 24085347 ClinVar
FUS Causal Pathogenic evidence from ClinVar 24085347, 30455313 ClinVar
KIF5A Causal Pathogenic evidence from ClinVar 29566793 ClinVar
MATR3 Causal Pathogenic evidence from ClinVar 19344878, 24686783 ClinVar
NEK1 Causal Pathogenic evidence from ClinVar 26945885, 27455347 ClinVar
OPTN Causal Pathogenic evidence from ClinVar 21059646, 24085347, 25096716 ClinVar
PFN1 Causal Pathogenic evidence from ClinVar 22801503, 23428184, 24085347 ClinVar
SETX Causal Pathogenic evidence from ClinVar - ClinVar
SIGMAR1 Causal Pathogenic evidence from ClinVar 24885036 ClinVar
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) C1859807 ALS2 Causal Pathogenic evidence from ClinVar 11586297, 11586298, 20018642, 23881933, 27601211 ClinVar
Juvenile amyotrophic lateral sclerosis 300605, C3468114 ALS2 Causal Pathogenic evidence from ClinVar 23282280 ClinVar
FUS Causal Pathogenic evidence from ClinVar 20579074, 20668261, 21907581, 22248478, 23046859 ClinVar
SIGMAR1 Causal Pathogenic evidence from ClinVar - ClinVar
Amyotrophic lateral sclerosis 803 ANG Causal Pathogenic evidence from ClinVar - ClinVar
ANXA11 Causal Pathogenic evidence from ClinVar - ClinVar
DCTN1 Causal Pathogenic evidence from ClinVar - ClinVar
ERBB4 Causal Pathogenic evidence from ClinVar - ClinVar
FIG4 Causal Pathogenic evidence from ClinVar - ClinVar
FUS Causal Pathogenic evidence from ClinVar - ClinVar
MATR3 Causal Pathogenic evidence from ClinVar - ClinVar
NEK1 Causal Pathogenic evidence from ClinVar - ClinVar
OPTN Causal Pathogenic evidence from ClinVar - ClinVar
PFN1 Causal Pathogenic evidence from ClinVar - ClinVar
Amyotrophic Lateral Sclerosis 9 C2678468 ANG Causal Pathogenic evidence from ClinVar 15557516, 16501576, 17703939, 17886298, 17900154, 18087731, 22292843, 25372031, 26255299 ClinVar
AMYOTROPHIC LATERAL SCLEROSIS 23 C4693381 ANXA11 Causal Pathogenic evidence from ClinVar 28469040, 29845112 ClinVar
Amyotrophic Lateral Sclerosis, Familial C4551993 DCTN1 Causal Pathogenic evidence from ClinVar - ClinVar
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE C3542025 ERBB4 Causal Pathogenic evidence from ClinVar 24529757 ClinVar
AMYOTROPHIC LATERAL SCLEROSIS 19 C3715155 ERBB4 Causal Pathogenic evidence from ClinVar 24119685 ClinVar
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) C1842675 ERBB4 Causal Pathogenic evidence from ClinVar 24529757 ClinVar
FUS Causal Pathogenic evidence from ClinVar 19251627, 19251628, 19861302, 20124201, 20577002, 20606625, 20668259, 22055719, 23577159, 24204307, 24908169, 25324524, 27604643 ClinVar
AMYOTROPHIC LATERAL SCLEROSIS 11 C2675491 FIG4 Causal Pathogenic evidence from ClinVar 17572665, 19118816, 28051077 ClinVar
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive C2750729 FUS Causal Pathogenic evidence from ClinVar - ClinVar
Amyotrophic Lateral Sclerosis, Guam Form C0543859 FUS Causal Pathogenic evidence from ClinVar 30455313 ClinVar
NEK1 Causal Pathogenic evidence from ClinVar 26945885, 27455347 ClinVar
OPTN Causal Pathogenic evidence from ClinVar 21059646, 25096716 ClinVar
PARK7 Causal Pathogenic evidence from ClinVar - ClinVar
SIGMAR1 Causal Pathogenic evidence from ClinVar 24885036 ClinVar
AMYOTROPHIC LATERAL SCLEROSIS 21 C3807521 MATR3 Causal Pathogenic evidence from ClinVar 19344878, 24686783, 25771394, 26199109, 28029397 ClinVar
AMYOTROPHIC LATERAL SCLEROSIS 12 C3150692 OPTN Causal Pathogenic evidence from ClinVar 20428114, 27534431 ClinVar
AMYOTROPHIC LATERAL SCLEROSIS 18 C3553719 PFN1 Causal Pathogenic evidence from ClinVar 22801503 ClinVar
Amyotrophic Lateral Sclerosis 4, Juvenile C1865409 SETX Causal Pathogenic evidence from ClinVar 14770181, 15106121, 15478096, 17159128, 19141356, 19696032, 21190393, 21438761, 21576111, 22088787, 23881933, 24105744, 24244371, 24814856 ClinVar
Amyotrophic lateral sclerosis type 4 357043 SETX Causal Pathogenic evidence from ClinVar - ClinVar
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE C3280587 SIGMAR1 Causal Pathogenic evidence from ClinVar 21842496, 26078401, 26633545, 27821430 ClinVar