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 0.50 0 0
CUI: C1844606
Disease: Periorbital hyperpigmentation
Periorbital hyperpigmentation 		5 0 3 0.43 0 0
CUI: C1720965
Disease: Ectodermal Dysplasia 3, Anhidrotic
Ectodermal Dysplasia 3, Anhidrotic 		2 0 2 0.40 0 0
CUI: C0265331
Disease: Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) 		4 0 2 0.29 0 0
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		12 0 3 0.21 0 0
CUI: C0175755
Disease: Congenital absent nipple
Congenital absent nipple 		7 0 2 0.20 0 0
CUI: C0282643
Disease: Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type I 		1 0 1 0.20 0 0
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		1 0 1 0.20 0 0
CUI: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding) 		7 0 2 0.20 0 0
CUI: C0574763
Disease: Hair absent (finding)
Hair absent (finding) 		1 0 1 0.20 0 0
CUI: C0809936
Disease: Branchio-skeleto-genital syndrome
Branchio-skeleto-genital syndrome 		1 0 1 0.20 0 0
CUI: C1844615
Disease: Skin peeling/scaling (newborn)
Skin peeling/scaling (newborn) 		1 0 1 0.20 0 0
CUI: C1844617
Disease: Hypoplastic-absent sebaceous glands
Hypoplastic-absent sebaceous glands 		1 0 1 0.20 0 0
CUI: C1849185
Disease: Elevated 7-dehydrocholesterol
Elevated 7-dehydrocholesterol 		1 0 1 0.20 0 0
CUI: C1863870
Disease: Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 		1 0 1 0.20 0 0
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
Tooth Agenesis, Selective, X-Linked, 1 		1 0 1 0.20 0 0
CUI: C2675460
Disease: HAIR MORPHOLOGY 1
HAIR MORPHOLOGY 1 		1 0 1 0.20 0 0
CUI: C2713347
Disease: 7-Dehydrocholesterol Reductase Deficiency
7-Dehydrocholesterol Reductase Deficiency 		1 0 1 0.20 0 0
CUI: C2931428
Disease: Hypodontia, X-linked
Hypodontia, X-linked 		1 0 1 0.20 0 0
CUI: C2931867
Disease: Dandy Walker cyst
Dandy Walker cyst 		1 0 1 0.20 0 0
CUI: C3551587
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		1 0 1 0.20 0 0
CUI: C4021203
Disease: Agenesis of molar
Agenesis of molar 		1 0 1 0.20 0 0
CUI: C4021299
Disease: Abnormality of dentin
Abnormality of dentin 		1 0 1 0.20 0 0
CUI: C4021828
Disease: Advanced pneumatization of the mastoid process
Advanced pneumatization of the mastoid process 		1 0 1 0.20 0 0
CUI: C4023750
Disease: Aplasia of the maxilla
Aplasia of the maxilla 		1 0 1 0.20 0 0