Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.620 GeneticVariation disease BEFREE In the patient with HARP syndrome two compound heterozygote mutations (Met327Thr and IVS5-1 G to T) in the PANK2 gene were found. 16962235 2006
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.620 Biomarker disease GENOMICS_ENGLAND A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. 16240131 2005
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.620 Biomarker disease BEFREE HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). 12058097 2002
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.620 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.620 Biomarker disease CTD_human
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.620 CausalMutation disease CLINVAR
Entrez Id: 23452
Gene Symbol: ANGPTL2
ANGPTL2 		0.010 Biomarker disease BEFREE HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). 12058097 2002
Entrez Id: 57016
Gene Symbol: AKR1B10
AKR1B10 		0.010 Biomarker disease BEFREE HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). 12058097 2002
Entrez Id: 257629
Gene Symbol: ANKS4B
ANKS4B 		0.010 Biomarker disease BEFREE HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). 12058097 2002
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		0.010 Biomarker disease BEFREE HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). 12058097 2002
Entrez Id: 5764
Gene Symbol: PTN
PTN 		0.010 Biomarker disease BEFREE HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). 12058097 2002
Entrez Id: 51129
Gene Symbol: ANGPTL4
ANGPTL4 		0.010 Biomarker disease BEFREE HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). 12058097 2002