AMMECR1, AMMECR nuclear protein 1, 9949

N. diseases: 5; N. variants: 4
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: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		disease Disease or Syndrome 1 3 0.700 strong 1.000 2 3 2017 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 25 13 0.410 strong 1.000 1 2017 2019
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 10 292 0.400 strong 1.000 1 3 2017 2017
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 10 0.400 strong 1.000 1 2017 2017
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 3 0.330 None 1.000 2 1999 2019