Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.740 CausalMutation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.740 GeneticVariation CLINVAR

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: 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: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 Biomarker HPO

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: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
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

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.410 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.400 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.400 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.400 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.400 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.400 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0028754
Disease: Obesity
Obesity 		0.360 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.200 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.140 Biomarker HPO