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: C0040458
Disease: Unerupted tooth
Unerupted tooth 		1 1 1 3.1E-02 1 1.6E-02
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		1 69 1 3.1E-02 3 2.4E-02
CUI: C0239574
Disease: Low grade fever
Low grade fever 		1 0 1 3.1E-02 0 0
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		1 15 1 3.1E-02 1 1.3E-02
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		1 1 1 3.1E-02 1 1.6E-02
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		1 0 1 3.1E-02 0 0
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		1 0 1 3.1E-02 0 0
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		1 14 1 3.1E-02 1 1.4E-02
CUI: C1832175
Disease: Cataract, Congenital, Cerulean Type, 2
Cataract, Congenital, Cerulean Type, 2 		1 5 1 3.1E-02 2 3.1E-02
CUI: C1832812
Disease: Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 		1 0 1 3.1E-02 0 0
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		1 0 1 3.1E-02 0 0
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		1 0 1 3.1E-02 0 0
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		1 0 1 3.1E-02 0 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		1 0 1 3.1E-02 0 0
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		1 0 1 3.1E-02 0 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		1 0 1 3.1E-02 0 0
CUI: C1857853
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 2
Cataract, Congenital Nuclear, Autosomal Recessive 2 		1 2 1 3.1E-02 1 1.6E-02
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		1 8 1 3.1E-02 2 3.0E-02
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		1 9 1 3.1E-02 1 1.4E-02
CUI: C1861832
Disease: CATARACT, CRYSTALLINE ACULEIFORM
CATARACT, CRYSTALLINE ACULEIFORM 		1 0 1 3.1E-02 0 0
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		1 8 1 3.1E-02 1 1.5E-02
CUI: C3151236
Disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 		1 0 1 3.1E-02 0 0
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		1 6 1 3.1E-02 1 1.5E-02
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		1 0 1 3.1E-02 0 0
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		1 0 1 3.1E-02 0 0