NUP107, nucleoporin 107, 57122

N. diseases: 98; N. variants: 8
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: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 0
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae 		disease Disease or Syndrome 15 0.100 None 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C4082168
Disease: Partial duplication of thumb phalanx
Partial duplication of thumb phalanx 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment 		phenotype Diagnostic Procedure 17 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		phenotype Finding 42 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C4024640
Disease: Aplasia/hypoplasia of the uterus
Aplasia/hypoplasia of the uterus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 8 0.100 None 0
CUI: C1704320
Disease: Glomerulonephritis, Minimal Change
Glomerulonephritis, Minimal Change 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 7 0.100 None 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		phenotype Musculoskeletal Diseases Finding 74 5 0.100 None 0
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		disease Nervous System Diseases Disease or Syndrome 34 2 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3554634
Disease: Light complexion
Light complexion 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C4021986
Disease: Hypoplasia of the ear cartilage
Hypoplasia of the ear cartilage 		phenotype Finding 14 0.100 None 0
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype Pathologic Function 42 1 0.100 None 0
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.100 None 0