Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1720965
Disease: Ectodermal Dysplasia 3, Anhidrotic
Ectodermal Dysplasia 3, Anhidrotic
2 0 2 0.50 0 0
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
4 0 2 0.33 0 0
CUI: C1844605
Disease: Periorbital wrinkles
Periorbital wrinkles
5 0 2 0.29 0 0
CUI: C1844606
Disease: Periorbital hyperpigmentation
Periorbital hyperpigmentation
5 0 2 0.29 0 0
CUI: C0574763
Disease: Hair absent (finding)
Hair absent (finding)
1 0 1 0.25 0 0
CUI: C1832455
Disease: Hypoplastic sweat glands
Hypoplastic sweat glands
1 0 1 0.25 0 0
CUI: C2675460
Disease: HAIR MORPHOLOGY 1
HAIR MORPHOLOGY 1
1 0 1 0.25 0 0
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
1 0 1 0.25 0 0
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
1 0 1 0.25 0 0
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
1 0 1 0.25 0 0
Precocious exfoliation of primary tooth
20 0 4 0.20 0 0
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
2 0 1 0.20 0 0
CUI: C1290508
Disease: Abnormal number of teeth
Abnormal number of teeth
3 0 1 0.17 0 0
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
18 0 3 0.16 0 0
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
18 0 3 0.16 0 0
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion
12 0 2 0.14 0 0
CUI: C4025867
Disease: Abnormality of the forehead
Abnormality of the forehead
4 0 1 0.14 0 0
CUI: C0235357
Disease: Hypoplasia of teeth
Hypoplasia of teeth
14 0 2 0.12 0 0
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
25 0 3 0.12 0 0
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
25 0 3 0.12 0 0
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias
29 0 3 1.0E-01 0 0
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat
19 0 2 9.5E-02 0 0
Myelodysplastic Syndrome Acute Myeloid Leukemia
8 0 1 9.1E-02 0 0
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome
45 0 4 8.9E-02 0 0
CUI: C0264169
Disease: Saddle nose
Saddle nose
10 0 1 7.7E-02 0 0