NXN, nucleoredoxin, 64359

N. diseases: 117; N. variants: 7
Source: ALL
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: C4022715
Disease: Hypoplastic female external genitalia
Hypoplastic female external genitalia 		disease Anatomical Abnormality 3 1 0.100 None 0
CUI: C1849334
Disease: Robinow syndrome, autosomal recessive
Robinow syndrome, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 8 0.300 None 1.000 1 2018 2018
CUI: C0266121
Disease: Congenital absence of uvula
Congenital absence of uvula 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 4 1 0.100 None 0
CUI: C1840307
Disease: Distal shortening of limbs
Distal shortening of limbs 		phenotype Finding 6 3 0.100 None 0 1
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		phenotype Finding 11 6 0.100 None 0
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia 		disease Disease or Syndrome 11 0.100 None 0
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		disease Anatomical Abnormality 11 1 0.100 None 0
CUI: C0019326
Disease: Ventral Hernia
Ventral Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 13 0.100 None 0
CUI: C1849341
Disease: Triangular mouth
Triangular mouth 		phenotype Finding 14 0.100 None 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		disease Stomatognathic Diseases Congenital Abnormality 19 2 0.100 None 0
CUI: C0266231
Disease: Ectopic anus
Ectopic anus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 20 0.100 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype Finding 23 0.100 None 0
CUI: C0266111
Disease: Bifid tongue
Bifid tongue 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 24 1 0.100 None 0
CUI: C0549306
Disease: Mesomelia
Mesomelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 27 4 0.100 None 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		disease Anatomical Abnormality 29 1 0.100 None 0
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 31 2 0.100 None 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype Finding 35 5 0.100 None 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 37 2 0.100 None 0
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 38 17 0.010 None < 0.001 1 2011 2011
CUI: C0266061
Disease: Open Bite
Open Bite 		phenotype Stomatognathic Diseases Congenital Abnormality 38 0.100 None 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		disease Musculoskeletal Diseases Congenital Abnormality 40 6 0.100 None 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		disease Finding 40 0.100 None 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease Anatomical Abnormality 40 3 0.100 None 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease Finding 40 2 0.100 None 0