FMN2, formin 2, 56776

N. diseases: 9; N. variants: 3
Source: CLINVAR ×
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: C4015444
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 		disease Disease or Syndrome 1 3 0.400 None 0 3
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 9 8 0.100 None 0 1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 54 69 0.100 None 0 1
CUI: C0015310
Disease: Exotropia
Exotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 17 21 0.100 None 0 1
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 17 17 0.100 None 0 1
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 0 1
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		phenotype Finding 2 3 0.100 None 0 1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 1