Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Encephalocraniocutaneous lipomatosis
0.740 CausalMutation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Encephalocraniocutaneous lipomatosis
0.740 Biomarker CTD_human

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Encephalocraniocutaneous lipomatosis
0.740 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 Biomarker CTD_human

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 CausalMutation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
0.720 SusceptibilityMutation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
0.720 Biomarker CTD_human

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
0.710 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
0.710 CausalMutation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
0.710 Biomarker CTD_human

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 Biomarker CTD_human

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
0.640 Biomarker CTD_human

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
0.640 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.620 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis
0.610 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 GenomicAlterations CGI

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 Biomarker CTD_human

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 GenomicAlterations CGI

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.450 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.430 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.420 Biomarker HPO