Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853404
Disease: Spasticity of facial muscles
Spasticity of facial muscles 		0.100 Biomarker phenotype HPO
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C1865412
Disease: Abnormal lower motor neuron morphology
Abnormal lower motor neuron morphology 		0.100 Biomarker phenotype HPO
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		0.100 Biomarker phenotype HPO
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		0.100 CausalMutation disease CLINVAR
CUI: C4025704
Disease: Abnormality of the corticospinal tract
Abnormality of the corticospinal tract 		0.100 Biomarker phenotype HPO
CUI: C4025720
Disease: Pseudobulbar behavioral symptoms
Pseudobulbar behavioral symptoms 		0.100 Biomarker phenotype HPO
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		0.100 Biomarker disease HPO
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 Biomarker phenotype HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 1606479 1992
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. 1606479 1992
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.030 GeneticVariation disease BEFREE Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33. 9933298 1998
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		0.700 GeneticVariation disease BEFREE The establishment of a YAC contig and transcript map that spans the region containing the ALS2 mutation is an essential step in the identification of the ALS2 gene. 9889004 1999
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		0.800 Biomarker disease GENOMICS_ENGLAND A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. 11586298 2001
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		0.760 Biomarker disease GENOMICS_ENGLAND A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. 11586298 2001
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		0.760 Biomarker disease BEFREE We report two deletion mutations in a new gene that are found both in individuals with ALS2 and those with JPLS, indicating that these conditions have a common genetic origin. 11586297 2001
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. 11586298 2001
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 11586297 2001
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		0.700 GeneticVariation disease BEFREE Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33. 11586298 2001
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.200 GeneticVariation disease BEFREE Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33. 11586298 2001