Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
0.100 GeneticVariation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6
0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
0.100 CausalMutation phenotype CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.100 Biomarker phenotype HPO
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1
0.100 Biomarker phenotype HPO
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
0.100 Biomarker phenotype HPO
Entrez Id: 55739
Gene Symbol: NAXD
NAXD
0.100 Biomarker phenotype HPO
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
0.100 Biomarker phenotype HPO
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
0.100 Biomarker phenotype HPO
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
0.100 Biomarker phenotype HPO
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
0.100 Biomarker phenotype HPO
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
0.100 Biomarker phenotype HPO
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1
0.100 Biomarker phenotype HPO
Entrez Id: 7084
Gene Symbol: TK2
TK2
0.100 Biomarker phenotype HPO
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
0.100 Biomarker phenotype HPO
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
0.100 Biomarker phenotype HPO
Entrez Id: 35
Gene Symbol: ACADS
ACADS
0.100 Biomarker phenotype HPO
Entrez Id: 1807
Gene Symbol: DPYS
DPYS
0.100 Biomarker phenotype HPO
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.100 Biomarker phenotype HPO
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
0.100 Biomarker phenotype HPO