Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 25828
Gene Symbol: TXN2
TXN2
0.100 Biomarker disease HPO
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.100 Biomarker disease HPO
Entrez Id: 728294
Gene Symbol: D2HGDH
D2HGDH
0.100 Biomarker disease HPO
Entrez Id: 51733
Gene Symbol: UPB1
UPB1
0.100 Biomarker disease HPO
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
0.100 Biomarker disease HPO
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
0.100 Biomarker disease HPO
Entrez Id: 652
Gene Symbol: BMP4
BMP4
0.100 Biomarker disease HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 CausalMutation disease CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease HPO
Entrez Id: 95
Gene Symbol: ACY1
ACY1
0.100 Biomarker disease HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 GeneticVariation disease CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 GeneticVariation disease CLINVAR
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
0.100 Biomarker disease HPO
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
0.100 Biomarker disease HPO
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
0.100 Biomarker disease HPO
Entrez Id: 3704
Gene Symbol: ITPA
ITPA
0.100 Biomarker disease HPO
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
0.100 Biomarker disease HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 CausalMutation disease CLINVAR
Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A
0.100 Biomarker disease HPO
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
0.100 CausalMutation disease CLINVAR
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
0.100 Biomarker disease HPO
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
0.100 Biomarker disease HPO