Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4047
Gene Symbol: LSS
LSS 		0.420 Biomarker disease GENOMICS_ENGLAND We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. 29016354 2017
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1 		0.410 Biomarker disease GENOMICS_ENGLAND Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 26063658 2015
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA 		0.400 Biomarker disease GENOMICS_ENGLAND Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? 20583178 2010
Entrez Id: 4953
Gene Symbol: ODC1
ODC1 		0.300 Biomarker disease GENOMICS_ENGLAND Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. 30475435 2018
Entrez Id: 7421
Gene Symbol: VDR
VDR 		0.500 Biomarker disease HPO
Entrez Id: 55806
Gene Symbol: HR
HR 		0.430 Biomarker disease HPO
Entrez Id: 4047
Gene Symbol: LSS
LSS 		0.420 Biomarker disease HPO
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1 		0.410 Biomarker disease HPO
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA 		0.400 Biomarker disease HPO
Entrez Id: 326
Gene Symbol: AIRE
AIRE 		0.180 Biomarker disease HPO
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1 		0.160 Biomarker disease HPO
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22 		0.150 Biomarker disease HPO
Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA 		0.150 Biomarker disease HPO
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.140 Biomarker disease HPO
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1 		0.140 Biomarker disease HPO
Entrez Id: 10161
Gene Symbol: LPAR6
LPAR6 		0.130 Biomarker disease HPO
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		0.120 Biomarker disease HPO
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1 		0.120 Biomarker disease HPO
Entrez Id: 162514
Gene Symbol: TRPV3
TRPV3 		0.120 Biomarker disease HPO
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1 		0.120 Biomarker disease HPO
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3 		0.120 Biomarker disease HPO
Entrez Id: 1832
Gene Symbol: DSP
DSP 		0.110 Biomarker disease HPO
Entrez Id: 6696
Gene Symbol: SPP1
SPP1 		0.110 Biomarker disease HPO
Entrez Id: 121391
Gene Symbol: KRT74
KRT74 		0.110 Biomarker disease HPO
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		0.110 Biomarker disease HPO