Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768950892
rs768950892
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12
CUI: C4540059
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY 		0.800 GeneticVariation UNIPROT Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. 28777934 2017
dbSNP: rs768950892
rs768950892
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12
CUI: C4540059
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1135401749
rs1135401749
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12
CUI: C4540059
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs1553309983
rs1553309983
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12
CUI: C4540059
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553309983
rs1553309983
Entrez Id: 51112
Gene Symbol: TRAPPC12
TRAPPC12
CUI: C4540059
Disease:
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY 		C 0.700 GeneticVariation CLINVAR