Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.510 Biomarker disease BEFREE We aim to describe the longitudinal clinical features and the treatment response of three unrelated patients with neurodegenerative parkinsonism, preceded by PEO and SANDO syndromes, who harbor POLG1 mutations, including two novel mutations. 25203713 2014
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.510 GeneticVariation disease ORPHANET Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 15668446 2005
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.510 Biomarker disease CTD_human
Entrez Id: 100652759
Gene Symbol: PRICKLE2-AS1
PRICKLE2-AS1
0.100 CausalMutation disease CLINVAR Mutations in prickle orthologs cause seizures in flies, mice, and humans. 21276947 2011
Entrez Id: 166336
Gene Symbol: PRICKLE2
PRICKLE2
0.100 CausalMutation disease CLINVAR Mutations in prickle orthologs cause seizures in flies, mice, and humans. 21276947 2011