Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.200 GeneticVariation BEFREE All three patients with the crouzonoid phenotype and acanthosis nigricans had the same mutation in exon 10 of FGFR3 (Ala391Glu). 10541159

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.200 GeneticVariation BEFREE Therefore, any molecular model of the origin of acanthosis nigricans secondary to FGFR3 mutations must account for the association of diverse mutations and these cutaneous effects. 9182787

1997
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.200 GeneticVariation BEFREE We report here the identification of a mutation in the transmembrane region of FGFR3, common to three unrelated patients with classical Crouzon syndrome and acanthosis nigricans, a dermatological condition associated with thickening and abnormal pigmentation of the skin. 8880573

1996
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.200 Biomarker HPO