Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.120 GeneticVariation BEFREE We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR1 and KAL1 mutations. 26051373

2015
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.120 Biomarker BEFREE Of 15 patients identified as having FGFR1- or FGFR2-confirmed Pfeiffer syndrome, 12 (80 percent) presented with upper extremity anomalies, most commonly broad thumbs [n = 10 (83 percent)], radial clinodactyly (thumbs) [n = 7 (58 percent)], and symphalangism [n = 7 each (58 percent)]. 24776567

2014
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.120 Biomarker HPO