FMR1, FMRP translational regulator 1, 2332

N. diseases: 29; N. variants: 9
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0949331
Disease: Gonadal Agenesis
Gonadal Agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 1 0.300 None 1.000 1 2011 2011
CUI: C0376280
Disease: Anxiety States, Neurotic
Anxiety States, Neurotic 		disease Mental Disorders Mental or Behavioral Dysfunction 44 0.300 None 1.000 1 2017 2017
CUI: C0282631
Disease: Facies
Facies 		group Pathological Conditions, Signs and Symptoms Organism Attribute 10 0.300 None 1.000 1 2011 2011
CUI: C0086367
Disease: Gonadotropin-Resistant Ovary Syndrome
Gonadotropin-Resistant Ovary Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2003 2003