Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		0.610 GeneticVariation disease BEFREE Bi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). 31525725 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 GeneticVariation disease BEFREE Interestingly, two mutations affecting AP4M1 and AP4E1 have recently been found to cause cerebral palsy associated with severe intellectual disability. 21620353 2011
CUI: C0038506
Disease: Stuttering
Stuttering 		0.110 GeneticVariation phenotype BEFREE The rate of rare variants in AP4E1 was significantly higher in unrelated Pakistani and Cameroonian stuttering individuals than in population-matched control individuals, and coding variants in this gene are exceptionally rare in the general sub-Saharan West African, South Asian, and North American populations. 26544806 2015
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.020 GeneticVariation disease BEFREE A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 23472171 2013
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.020 Biomarker disease BEFREE Bi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). 31525725 2019
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 GeneticVariation disease BEFREE Interestingly, two mutations affecting AP4M1 and AP4E1 have recently been found to cause cerebral palsy associated with severe intellectual disability. 21620353 2011
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections 		0.010 GeneticVariation group BEFREE A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 23472171 2013
CUI: C0751529
Disease: Stuttering, Developmental
Stuttering, Developmental 		0.010 GeneticVariation phenotype BEFREE Whole-exome sequencing identified two heterozygous AP4E1 coding variants, c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys), that co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observed the same two variants in unrelated Cameroonians with persistent stuttering. 26544806 2015
CUI: C3279743
Disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE 		0.010 GeneticVariation disease BEFREE Bi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). 31525725 2019
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		0.610 GeneticVariation disease CLINVAR
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1 		0.600 GeneticVariation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.100 CausalMutation disease CLINVAR
CUI: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		0.610 Biomarker disease CTD_human
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1 		0.600 Biomarker disease CTD_human
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO
CUI: C0038506
Disease: Stuttering
Stuttering 		0.110 Biomarker phenotype HPO
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 Biomarker phenotype HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO