SLC33A1, solute carrier family 33 member 1, 9197

N. diseases: 170; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 CausalMutation disease CLINVAR
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 Biomarker disease CTD_human
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.700 Biomarker disease CTD_human
CUI: C0086543
Disease: Cataract
Cataract 		0.400 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.400 Biomarker phenotype HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 Biomarker disease HPO
CUI: C0009024
Disease: Clonus
Clonus 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0231687
Disease: Spastic gait
Spastic gait 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		0.100 Biomarker phenotype HPO
CUI: C0241224
Disease: Spinal cord lesion
Spinal cord lesion 		0.100 Biomarker phenotype HPO
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.100 Biomarker phenotype HPO
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		0.100 Biomarker phenotype HPO