Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2 		0.100 Biomarker disease HPO
Entrez Id: 5698
Gene Symbol: PSMB9
PSMB9 		0.100 Biomarker disease HPO
Entrez Id: 2353
Gene Symbol: FOS
FOS 		0.100 Biomarker disease HPO
Entrez Id: 9049
Gene Symbol: AIP
AIP 		0.100 Biomarker disease HPO
Entrez Id: 5692
Gene Symbol: PSMB4
PSMB4 		0.100 Biomarker disease HPO
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		0.100 Biomarker disease HPO
Entrez Id: 286053
Gene Symbol: NSMCE2
NSMCE2 		0.100 Biomarker disease HPO
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5 		0.100 Biomarker disease HPO
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 Biomarker disease HPO
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.100 Biomarker disease HPO
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		0.100 Biomarker disease HPO
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 Biomarker disease HPO
Entrez Id: 64834
Gene Symbol: ELOVL1
ELOVL1 		0.100 Biomarker disease HPO
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease BEFREE Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. 19622626 2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease BEFREE Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 21510009 2011
Entrez Id: 3643
Gene Symbol: INSR
INSR 		0.200 GeneticVariation disease BEFREE Acanthosis nigricans with high fasting insulin levels in the proband suggested severe insulin resistance and prompted INSR gene sequencing, which revealed the novel, heterozygous p.Phe1213Leu mutation in the patient and his family members. 29411486 2018
Entrez Id: 3643
Gene Symbol: INSR
INSR 		0.200 GeneticVariation disease BEFREE INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR). 23824322 2013
Entrez Id: 9882
Gene Symbol: TBC1D4
TBC1D4 		0.010 GeneticVariation disease BEFREE A female presenting at age 11 years with acanthosis nigricans and extreme postprandial hyperinsulinemia was heterozygous for a premature stop mutation (R363X) in TBC1D4. 19470471 2009
Entrez Id: 3643
Gene Symbol: INSR
INSR 		0.200 GeneticVariation disease BEFREE A mutant insulin receptor gene lacking almost the entire kinase domain has been identified in an individual with type A insulin resistance and acanthosis nigricans. 2544997 1989
Entrez Id: 3643
Gene Symbol: INSR
INSR 		0.200 GeneticVariation disease BEFREE A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism. 27505086 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease BEFREE A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. 10053006 1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease LHGDN Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. 15517832 2004
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease CLINVAR Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903 2007
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease LHGDN Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.120 GeneticVariation disease BEFREE Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus, dyslipidemia and acanthosis nigricans.The genetic basis of FPLD is unknown. 9500556 1998