Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Additionally, blastoconidia stimulation decreased the expression of virulence factors in C. albicans that are associated with filamentation (EFG1, CPH1 and NRG1), adhesion (ALS5), and invasion (SAP2). 30169683 2019
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		0.010 GeneticVariation disease BEFREE <b>Results:</b> Fifty four patients with genetically confirmed HSP diagnosis, 36 with spastic paraplegia type 4 (SPG4), 5 SPG11, 4 SPG5, 4 cerebrotendinous xanthomatosis (CTX), 3 SPG7 and 2 SPG3A, and 10 healthy, unrelated control subjects, with similar age, sex, and education participated in the study. 31231294 2019
CUI: C3711371
Disease: Spastic Paraplegia Type 4
Spastic Paraplegia Type 4 		0.010 GeneticVariation disease BEFREE <b>Results:</b> Fifty four patients with genetically confirmed HSP diagnosis, 36 with spastic paraplegia type 4 (SPG4), 5 SPG11, 4 SPG5, 4 cerebrotendinous xanthomatosis (CTX), 3 SPG7 and 2 SPG3A, and 10 healthy, unrelated control subjects, with similar age, sex, and education participated in the study. 31231294 2019
CUI: C0268632
Disease: Homocarnosinosis
Homocarnosinosis 		0.010 GeneticVariation disease BEFREE Homocarnosinosis: A historical update and findings in the SPG11 gene. 29732542 2018
CUI: C3495554
Disease: Homocarnosinase deficiency
Homocarnosinase deficiency 		0.010 GeneticVariation disease BEFREE Homocarnosinosis: A historical update and findings in the SPG11 gene. 29732542 2018
CUI: C4324342
Disease: Dysarthrophonia
Dysarthrophonia 		0.010 GeneticVariation disease BEFREE Dysarthrophonia is often reported by hereditary spastic paraplegia (HSP) patients with SPG11 mutations but it has been poorly investigated. 29804168 2018
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 Biomarker group BEFREE The Spg11 knockout mouse developed early-onset motor impairment and cognitive deficits. 28237315 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 GeneticVariation disease BEFREE A rare case of SPG11 mutation with multiple sclerosis. 27180005 2017
CUI: C0751967
Disease: Multiple Sclerosis, Relapsing-Remitting
Multiple Sclerosis, Relapsing-Remitting 		0.010 GeneticVariation disease BEFREE This is the first description of SPG11 HSP associated with MS. 27180005 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 Biomarker phenotype BEFREE SPG11 belongs to the autosomal recessive hereditary spastic paraplegias (HSP) and presents during childhood or puberty with a complex clinical phenotype encompassing learning difficulties, ataxia, peripheral neuropathy, amyotrophy, and mental retardation. 27318863 2016
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 Biomarker disease BEFREE SPG11 belongs to the autosomal recessive hereditary spastic paraplegias (HSP) and presents during childhood or puberty with a complex clinical phenotype encompassing learning difficulties, ataxia, peripheral neuropathy, amyotrophy, and mental retardation. 27318863 2016
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.010 Biomarker disease BEFREE Although neuropathy is occasionally present in SPG11, in our SPG11 patients reported here it was particularly severe, highlighting the association of axonal neuropathy with SPG11 and the late manifestation of axonal peripheral nerve damage. 27544499 2016
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 Biomarker group BEFREE Although neuropathy is occasionally present in SPG11, in our SPG11 patients reported here it was particularly severe, highlighting the association of axonal neuropathy with SPG11 and the late manifestation of axonal peripheral nerve damage. 27544499 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 GeneticVariation disease BEFREE We identified 11 patients carrying a loss-of-function (LOF) mutation resulting in an overall mutation frequency of 1.7% (11/629), 1.1% in patients with FTD (5/460), 3.4% in patients with ALS (5/147), and 4.5% in patients with FTD-ALS (1/22). 26581300 2015
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		0.010 GeneticVariation disease BEFREE Our finding suggests that these novel compound heterozygous mutations in SPG11 are associated with HSP and lower motor neuron involvement, mild cerebellar signs and dysgenesis of the corpus callosum. 26003865 2015
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		0.010 GeneticVariation phenotype BEFREE Our finding suggests that these novel compound heterozygous mutations in SPG11 are associated with HSP and lower motor neuron involvement, mild cerebellar signs and dysgenesis of the corpus callosum. 26003865 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease BEFREE Extrapyramidal signs were observed only in patients with SPG15, and epilepsy in three subjects with SPG11. 24833714 2014
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.010 GeneticVariation disease BEFREE Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)). 22554690 2012
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.010 GeneticVariation disease BEFREE Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)). 22554690 2012
CUI: C0030486
Disease: Paraplegia
Paraplegia 		0.010 GeneticVariation disease BEFREE Retinal changes, an integral part of SPG11 mutations in this series of patients, are only observed once the paraplegia has become apparent. 21035867 2011
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.010 Biomarker disease BEFREE Cognitive impairment and polyneuropathy, reported as frequent in SPG11, were not evident. 20971220 2011
CUI: C0085623
Disease: Akinesia
Akinesia 		0.010 Biomarker disease BEFREE Parkinsonism occurred during the very early stages of SPG11 in both patients, being in one the inaugural symptom of the disease presented as a resting tremor with akinesia, rigidity and expressing an initial moderate levodopa-response that progressively weakened. 19224311 2009
CUI: C0234379
Disease: Resting Tremor
Resting Tremor 		0.010 Biomarker phenotype BEFREE Parkinsonism occurred during the very early stages of SPG11 in both patients, being in one the inaugural symptom of the disease presented as a resting tremor with akinesia, rigidity and expressing an initial moderate levodopa-response that progressively weakened. 19224311 2009
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction 		0.010 GeneticVariation disease BEFREE SPG11 mutation should be suspected in Korean patients having HSP with TCC and executive dysfunction. 19513778 2009
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		0.010 GeneticVariation disease BEFREE In autosomal recessive forms, mutations in the recently identified SPG11 gene seem to account for a majority of the complex forms of the disease with atrophy of the corpus callosum. 17992088 2007