CERT1, ceramide transporter 1, 10087

N. diseases: 71; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225156
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 		0.600 CausalMutation disease CLINVAR
CUI: C4225156
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 		0.600 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0006325
Disease: Bruxism
Bruxism 		0.100 Biomarker phenotype HPO
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		0.100 Biomarker disease HPO
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.100 Biomarker phenotype HPO
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.100 Biomarker phenotype HPO
CUI: C0277959
Disease: Coarse hair
Coarse hair 		0.100 Biomarker phenotype HPO
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0431447
Disease: Synophrys
Synophrys 		0.100 Biomarker disease HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		0.100 Biomarker phenotype HPO
CUI: C0576226
Disease: Short foot
Short foot 		0.100 Biomarker phenotype HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 Biomarker phenotype HPO
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.100 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.100 Biomarker phenotype HPO
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		0.100 Biomarker phenotype HPO
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 Biomarker phenotype HPO