Source: ALL
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: C0406702
Disease: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 		4 0 3 0.15 0 0
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		37 0 7 0.14 0 0
CUI: C1844605
Disease: Periorbital wrinkles
Periorbital wrinkles 		5 0 3 0.14 0 0
CUI: C1844606
Disease: Periorbital hyperpigmentation
Periorbital hyperpigmentation 		5 0 3 0.14 0 0
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		29 0 5 0.12 0 0
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		11 4 3 0.11 3 0.38
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		12 0 3 0.11 0 0
CUI: C1720965
Disease: Ectodermal Dysplasia 3, Anhidrotic
Ectodermal Dysplasia 3, Anhidrotic 		2 0 2 0.11 0 0
CUI: C4024883
Disease: Hyperextensible skin of face
Hyperextensible skin of face 		2 2 2 0.11 2 0.29
CUI: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		2 3 2 0.11 1 0.11
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		2 13 2 0.11 2 0.11
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		69 0 8 1.0E-01 0 0
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 3 2 1.0E-01 1 0.11
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		3 52 2 1.0E-01 2 3.5E-02
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		3 2 2 1.0E-01 2 0.29
CUI: C0265331
Disease: Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) 		4 0 2 9.5E-02 0 0
CUI: C1850438
Disease: Postural hypotension with compensatory tachycardia
Postural hypotension with compensatory tachycardia 		4 2 2 9.5E-02 2 0.29
CUI: C3551426
Disease: Dystrophic fingernails
Dystrophic fingernails 		27 0 4 9.5E-02 0 0
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 2 9.5E-02 2 0.20
CUI: C0266037
Disease: Peg-shaped teeth
Peg-shaped teeth 		17 0 3 9.1E-02 0 0
CUI: C4022858
Disease: Elevated aldolase level
Elevated aldolase level 		5 3 2 9.1E-02 2 0.25
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		18 0 3 8.8E-02 0 0
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		18 0 3 8.8E-02 0 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		19 0 3 8.6E-02 0 0
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		45 0 5 8.5E-02 0 0