Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B 		0.300 Biomarker phenotype CTD_human Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. 20085714 2010
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.300 Biomarker phenotype CTD_human Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency. 17368676 2007
Entrez Id: 1565
Gene Symbol: CYP2D6
CYP2D6 		0.300 Biomarker phenotype CTD_human Severe adverse effects in a newborn with two defective CYP2D6 alleles after exposure to paroxetine during late pregnancy. 15570195 2004
Entrez Id: 4852
Gene Symbol: NPY
NPY 		0.300 Therapeutic phenotype CTD_human Inhibition by neuropeptide Y of fentanyl-induced muscular rigidity at the locus coeruleus in rats. 10675796 2000
Entrez Id: 4922
Gene Symbol: NTS
NTS 		0.300 Therapeutic phenotype CTD_human Antagonization of fentanyl-induced muscular rigidity by neurotensin at the locus coeruleus of the rat. 8036282 1994
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		0.100 Biomarker phenotype HPO
Entrez Id: 339453
Gene Symbol: TMEM240
TMEM240 		0.100 Biomarker phenotype HPO
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.100 Biomarker phenotype HPO
Entrez Id: 11232
Gene Symbol: POLG2
POLG2 		0.100 Biomarker phenotype HPO
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4 		0.100 Biomarker phenotype HPO
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 Biomarker phenotype HPO
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		0.100 Biomarker phenotype HPO
Entrez Id: 23636
Gene Symbol: NUP62
NUP62 		0.100 Biomarker phenotype HPO
Entrez Id: 7084
Gene Symbol: TK2
TK2 		0.100 Biomarker phenotype HPO
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B 		0.100 Biomarker phenotype HPO
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2 		0.100 Biomarker phenotype HPO
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.100 SusceptibilityMutation phenotype CLINVAR
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 Biomarker phenotype HPO
Entrez Id: 4311
Gene Symbol: MME
MME 		0.100 Biomarker phenotype HPO
Entrez Id: 1356
Gene Symbol: CP
CP 		0.100 Biomarker phenotype HPO
Entrez Id: 1600
Gene Symbol: DAB1
DAB1 		0.100 Biomarker phenotype HPO
Entrez Id: 3739
Gene Symbol: KCNA4
KCNA4 		0.100 Biomarker phenotype HPO
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.100 Biomarker phenotype HPO
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		0.010 GeneticVariation phenotype BEFREE In this report, we use RT-PCR to detect compound heterozygous deletions of the parkin gene in fibroblasts from two cases of middle age-onset familial parkinsonism with lower extremities-dominant resting tremor and mild cogwheel rigidity. 16517073 2006