Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.310 GeneticVariation group BEFREE Mutations in the XPD subunit of the transcription/DNA repair factor (TFIIH) give rise to trichothiodystrophy (TTD), a rare hereditary multisystem disorder with skin abnormalities. 23221806 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.310 GeneticVariation group BEFREE Treating Fgfr2+/Y394C mice with a p38 kinase inhibitor attenuated skin abnormalities by reversing cell proliferation and differentiation to near normal levels. 22585574 2012
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.310 Biomarker group CTD_human Polymorphisms in XPD (Asp312Asn and Lys751Gln) genes, sunburn and arsenic-related skin lesions. 17470448 2007
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.310 Biomarker group CTD_human An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis. 10631169 2000
Entrez Id: 162
Gene Symbol: AP1B1
AP1B1 		0.300 Biomarker group GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791 2019
Entrez Id: 2222
Gene Symbol: FDFT1
FDFT1 		0.300 Biomarker group GENOMICS_ENGLAND Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. 29909962 2018
Entrez Id: 4047
Gene Symbol: LSS
LSS 		0.300 Biomarker group GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017
Entrez Id: 6648
Gene Symbol: SOD2
SOD2 		0.300 Biomarker group CTD_human Absence of manganese superoxide dismutase delays p53-induced tumor formation. 24494196 2014
Entrez Id: 6832
Gene Symbol: SUPV3L1
SUPV3L1 		0.300 Biomarker group CTD_human Disruption of Supv3L1 damages the skin and causes sarcopenia, loss of fat, and death. 19145458 2009
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469 		0.300 Biomarker group CTD_human Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. 18452888 2008
Entrez Id: 92344
Gene Symbol: GORAB
GORAB 		0.300 Biomarker group CTD_human Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. 18997784 2008
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.300 Biomarker group CTD_human Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). 17041601 2006
Entrez Id: 1147
Gene Symbol: CHUK
CHUK 		0.300 Biomarker group CTD_human IKK1-deficient mice exhibit abnormal development of skin and skeleton. 10346820 1999
Entrez Id: 1147
Gene Symbol: CHUK
CHUK 		0.300 Biomarker group CTD_human Limb and skin abnormalities in mice lacking IKKalpha. 10195895 1999
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.300 Biomarker group CTD_human p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. 10227294 1999
Entrez Id: 1147
Gene Symbol: CHUK
CHUK 		0.300 Biomarker group CTD_human Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase. 10195896 1999
Entrez Id: 317
Gene Symbol: APAF1
APAF1 		0.300 Biomarker group CTD_human Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development. 9753320 1998
Entrez Id: 84942
Gene Symbol: WDR73
WDR73 		0.110 GeneticVariation group BEFREE We identified 10 patients from three CA and from two GMS families with WDR73 mutations including the original family described with CA, mental retardation, optic atrophy, and skin abnormalities (CAMOS). 26123727 2015
Entrez Id: 9640
Gene Symbol: ZNF592
ZNF592 		0.110 GeneticVariation group BEFREE CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities. 20531441 2010
Entrez Id: 5340
Gene Symbol: PLG
PLG 		0.110 Biomarker group BEFREE Skin abnormalities in mice transgenic for plasminogen activator inhibitor 1: implications for the regulation of desquamation and follicular neogenesis by plasminogen activator enzymes. 7649363 1995
Entrez Id: 9640
Gene Symbol: ZNF592
ZNF592 		0.110 Biomarker group HPO
Entrez Id: 84942
Gene Symbol: WDR73
WDR73 		0.110 Biomarker group HPO
Entrez Id: 5340
Gene Symbol: PLG
PLG 		0.110 Biomarker group HPO
Entrez Id: 7421
Gene Symbol: VDR
VDR 		0.100 Biomarker group HPO
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2 		0.100 Biomarker group HPO