ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
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: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C4021829
Disease: Narrow nail
Narrow nail 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 68 8 0.100 None 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype Respiratory Tract Diseases Finding 64 34 0.100 None 0 1
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		phenotype Finding 47 0.100 None 0
CUI: C4025739
Disease: Acroosteolysis of distal phalanges (feet)
Acroosteolysis of distal phalanges (feet) 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025270
Disease: Arteriosclerosis of small cerebral arteries
Arteriosclerosis of small cerebral arteries 		disease Cardiovascular Diseases Disease or Syndrome 3 0.100 None 0
CUI: C4025078
Disease: Tapering pointed ends of distal finger phalanges
Tapering pointed ends of distal finger phalanges 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		phenotype Finding 5 1 0.100 None 0
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		phenotype Finding 8 0.100 None 0
CUI: C4023965
Disease: Structural foot deformity
Structural foot deformity 		phenotype Musculoskeletal Diseases Anatomical Abnormality 5 1 0.100 None 0
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture 		disease Finding 15 1 0.100 None 0
CUI: C4023402
Disease: Regional abnormality of skin
Regional abnormality of skin 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		phenotype Finding 52 0.100 None 0
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		phenotype Finding 9 5 0.100 None 0
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype Musculoskeletal Diseases Finding 23 5 0.100 None 0 1
CUI: C1848769
Disease: Overtubulated long bones
Overtubulated long bones 		phenotype Finding 4 0.100 None 0
CUI: C1848760
Disease: Increased anterioposterior diameter of thorax
Increased anterioposterior diameter of thorax 		phenotype Finding 3 1 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0 1
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		phenotype Finding 6 1 0.100 None 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		phenotype Finding 24 0.100 None 0
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia 		phenotype Finding 23 1 0.100 None 0
CUI: C1844618
Disease: Aplasia/Hypoplastia of the eccrine sweat glands
Aplasia/Hypoplastia of the eccrine sweat glands 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 60 4 0.100 None 0