AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 9; N. variants: 12
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: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		disease Digestive System Diseases; Endocrine System Diseases Disease or Syndrome 1 12 0.800 None 0.980 9 12 2000 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 6 1 1980 2015
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 10 11 0.100 None 0 1
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 11 23 0.100 None 0 1
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 19 0.100 None 0 1
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 4 5 0.100 None 0 1
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 22 14 0.100 None 0 1
CUI: C4012597
Disease: ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		disease Digestive System Diseases Disease or Syndrome 1 1 0.100 None 0 1