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FGFR1

fibroblast growth factor receptor 1

gene with protein productOMIM: 13635017 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)5
Non-syndromic metopic craniosynostosisORPHA:3366
→
Septo-optic dysplasia spectrumORPHA:3157
→
Semilobar holoprosencephalyORPHA:220386
→
Pfeiffer syndrome type 1ORPHA:93258
→
OligodontiaORPHA:99798
→
Часть слитого гена4
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangementORPHA:168953
→
GliosarcomaORPHA:251576
→
Giant cell glioblastomaORPHA:251579
→
Primary hypereosinophilic syndromeORPHA:314950
→
Disease-causing germline mutation(s) (loss of function) in3
Hartsfield syndromeORPHA:2117
→
Kallmann syndromeORPHA:478
→
Normosmic congenital hypogonadotropic hypogonadismORPHA:432
→
Соматическая мутация (причина)2
Encephalocraniocutaneous lipomatosisORPHA:2396
→
Pilomyxoid astrocytomaORPHA:251615
→
Ген-кандидат2
Microform holoprosencephalyORPHA:280200
→
Lobar holoprosencephalyORPHA:93924
→
Disease-causing germline mutation(s) (gain of function) in1
Osteoglosphonic dysplasiaORPHA:2645
→
Данные: Orphadata (CC-BY-4.0)