Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
0.710 GeneticVariation disease BEFREE In this study, we analyzed FGFR1-3 genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS-2), one patient with Jackson-Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome (MS). 27683237 2017
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
0.710 Biomarker disease GENOMICS_ENGLAND FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. 25759380 2015
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
0.710 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
0.710 GeneticVariation disease UNIPROT Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678 2000
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
0.710 GeneticVariation disease CLINVAR
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
0.710 CausalMutation disease CLINVAR
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
0.710 Biomarker disease CTD_human