ENOPH1, enolase-phosphatase 1, 58478

N. diseases: 14; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.030 GeneticVariation disease BEFREE X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. 15662685 2005
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.030 Biomarker disease BEFREE Mutations in the L1CAM gene are responsible for four related L1 disorders; X-linked hydrocephalus/HSAS (Hydrocephalus as a result of Stenosis of the Aqueduct of Sylvius), MASA (Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs) syndrome, X-linked complicated spastic paraplegia type I (SPG1) and X-linked Agenesis of the Corpus Callosum (ACC). 16088863 2005
CUI: C0431886
Disease: Thumb in palm deformity
Thumb in palm deformity 		0.030 Biomarker disease BEFREE Mutations in the L1CAM gene are responsible for four related L1 disorders; X-linked hydrocephalus/HSAS (Hydrocephalus as a result of Stenosis of the Aqueduct of Sylvius), MASA (Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs) syndrome, X-linked complicated spastic paraplegia type I (SPG1) and X-linked Agenesis of the Corpus Callosum (ACC). 16088863 2005
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		0.030 Biomarker disease BEFREE X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. 15662685 2005
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE The L1CAM gene, which is located in Xq28 and codes for a neuronal cell adhesion molecule, is involved in three distinct conditions: HSAS (hydrocephalus-stenosis of the aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, adductus thumbs), and SPG1 (spastic paraplegia). 9744477 1998
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		0.030 GeneticVariation disease BEFREE Using this method we have identified 6 novel mutations in the L1CAM gene in 5 patients with X-linked hydrocephalus and 2 patients with MASA. 9521424 1998
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 GeneticVariation group BEFREE The L1CAM gene, which is located in Xq28 and codes for a neuronal cell adhesion molecule, is involved in three distinct conditions: HSAS (hydrocephalus-stenosis of the aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, adductus thumbs), and SPG1 (spastic paraplegia). 9744477 1998
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.030 GeneticVariation disease BEFREE These results provide, for the first time, direct demonstration of the deleterious effects of hydrocephalus/MASA mutations on two intrinsic properties of L1. 8636066 1996
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 Biomarker disease BEFREE MASA (mental retardation, aphasia, spastic paraplegia, adducted thumbs) syndrome and X-linked hydrocephalus. 8782167 1996
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). 8826452 1996
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		0.030 GeneticVariation disease BEFREE Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). 8826452 1996
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		0.030 GeneticVariation disease BEFREE Recently, two mutations (R184Q and H210Q) within the Ig2 region of the human L1 gene have been shown to be responsible for X-linked hydrocephalus and the related MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome. 8636066 1996
CUI: C0431886
Disease: Thumb in palm deformity
Thumb in palm deformity 		0.030 GeneticVariation disease BEFREE Recently, two mutations (R184Q and H210Q) within the Ig2 region of the human L1 gene have been shown to be responsible for X-linked hydrocephalus and the related MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome. 8636066 1996
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		0.030 GeneticVariation disease BEFREE Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). 8826452 1996
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		0.030 GeneticVariation disease BEFREE These findings were consistent with the MASA spectrum (mental retardation-aphasia-shuffling gait-adducted thumbs) present in the older brother. 8809896 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 GeneticVariation group BEFREE Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). 8826452 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 Biomarker group BEFREE MASA (mental retardation, aphasia, spastic paraplegia, adducted thumbs) syndrome and X-linked hydrocephalus. 8782167 1996
CUI: C0431886
Disease: Thumb in palm deformity
Thumb in palm deformity 		0.030 Biomarker disease BEFREE Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). 7762552 1995
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.020 Biomarker disease BEFREE Mutations in the L1CAM gene are responsible for four related L1 disorders; X-linked hydrocephalus/HSAS (Hydrocephalus as a result of Stenosis of the Aqueduct of Sylvius), MASA (Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs) syndrome, X-linked complicated spastic paraplegia type I (SPG1) and X-linked Agenesis of the Corpus Callosum (ACC). 16088863 2005
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.020 GeneticVariation disease BEFREE Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). 8826452 1996
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE <b>Results</b>: We have determined that HCC cell metastasis is associated with alterations in metabolite levels and expressions of metabolic enzymes in the cysteine/methionine metabolism pathway, and show that one of metabolic enzymes, enolase-phosphatase 1 (ENOPH1), is persistently upregulated with an increase in metastatic potential. 31281503 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE ENOPH1 overexpression promoted cell migration and invasion, whereas ENOPH1 downregulation inhibited cell migration and invasion. 31281503 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE <b>Results</b>: We have determined that HCC cell metastasis is associated with alterations in metabolite levels and expressions of metabolic enzymes in the cysteine/methionine metabolism pathway, and show that one of metabolic enzymes, enolase-phosphatase 1 (ENOPH1), is persistently upregulated with an increase in metastatic potential. 31281503 2019
CUI: C0017638
Disease: Glioma
Glioma 		0.010 AlteredExpression disease BEFREE In addition, we observed that the glioma pathological grade was positively associated with the expression level of ENOPH1. 30066900 2018
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		0.010 Biomarker disease BEFREE Enolase-phosphatase 1 as a novel potential malignant glioma indicator promotes cell proliferation and migration. 30066900 2018