NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 Biomarker disease CTD_human
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 CausalMutation disease CLINVAR
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		0.540 Biomarker disease CTD_human
CUI: C0023806
Disease: Lipomucopolysaccharidosis
Lipomucopolysaccharidosis 		0.410 CausalMutation disease CLINVAR
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.400 Biomarker disease HPO
CUI: C3888317
Disease: Sialidosis, type 2
Sialidosis, type 2 		0.310 Biomarker disease CTD_human
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.110 Biomarker phenotype HPO
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.110 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0003962
Disease: Ascites
Ascites 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0019270
Disease: Hernia
Hernia 		0.100 Biomarker phenotype HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.100 Biomarker group HPO
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 Biomarker phenotype HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.100 Biomarker group HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO