EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
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: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding) 		phenotype Finding 7 0.100 None 0
CUI: C0175755
Disease: Congenital absent nipple
Congenital absent nipple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 7 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype Finding 41 10 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype Finding 117 1 0.100 None 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		phenotype Congenital Abnormality 21 1 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 60 4 0.100 None 0 1
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 3 0.100 None 0
CUI: C1844605
Disease: Periorbital wrinkles
Periorbital wrinkles 		phenotype Finding 5 1 0.100 None 0
CUI: C1844606
Disease: Periorbital hyperpigmentation
Periorbital hyperpigmentation 		phenotype Finding 5 2 0.100 None 0 1
CUI: C0035455
Disease: Rhinitis
Rhinitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 178 20 0.100 None 0
CUI: C1844615
Disease: Skin peeling/scaling (newborn)
Skin peeling/scaling (newborn) 		phenotype Finding 1 0.300 limited 0
CUI: C1844617
Disease: Hypoplastic-absent sebaceous glands
Hypoplastic-absent sebaceous glands 		phenotype Finding 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: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0 1
CUI: C0221261
Disease: Koilonychia
Koilonychia 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 14 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0 1
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		disease Congenital Abnormality 33 1 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0553721
Disease: Diminished sweating
Diminished sweating 		phenotype Skin and Connective Tissue Diseases; Nervous System Diseases Finding 5 7 0.100 None 0 1
CUI: C0266037
Disease: Peg-shaped teeth
Peg-shaped teeth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 17 2 0.100 None 0 1
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 45 1 0.100 None 0 1