Source: CLINVAR ×
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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.7E-02 0 0
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		3 0 1 5.3E-02 0 0
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		6 0 1 4.5E-02 0 0
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		2 0 1 5.6E-02 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		16 0 1 3.1E-02 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		19 0 1 2.9E-02 0 0
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		3 0 1 5.3E-02 0 0
CUI: C0452136
Disease: Conductive hearing loss, bilateral
Conductive hearing loss, bilateral 		3 0 1 5.3E-02 0 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		16 0 1 3.1E-02 0 0
CUI: C0454642
Disease: Receptive language delay
Receptive language delay 		4 0 1 5.0E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 1 7.1E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 1 1.7E-02 0 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		14 0 2 6.9E-02 0 0
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		6 0 1 4.5E-02 0 0
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		2 0 1 5.6E-02 0 0
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		1 0 1 5.9E-02 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		6 0 1 4.5E-02 0 0
CUI: C1834737
Disease: Cutaneous syndactyly of toes
Cutaneous syndactyly of toes 		1 0 1 5.9E-02 0 0
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		2 0 1 5.6E-02 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		13 0 1 3.4E-02 0 0
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		1 0 1 5.9E-02 0 0
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		1 0 1 5.9E-02 0 0
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		16 0 1 3.1E-02 0 0
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		1 0 1 5.9E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 0 1 1.8E-02 0 0