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: C0020488
Disease: Hypernatremia
Hypernatremia 		1 1 1 5.9E-02 1 4.5E-02
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		1 1 1 5.9E-02 1 4.5E-02
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		1 0 1 5.9E-02 0 0
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		1 0 1 5.9E-02 0 0
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		1 1 1 5.9E-02 1 4.5E-02
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		1 0 1 5.9E-02 0 0
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		1 2 1 5.9E-02 2 9.1E-02
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus 		1 1 1 5.9E-02 1 4.5E-02
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		1 9 1 5.9E-02 1 3.3E-02
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		1 15 1 5.9E-02 1 2.8E-02
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		1 0 1 5.9E-02 0 0
CUI: C1834737
Disease: Cutaneous syndactyly of toes
Cutaneous syndactyly of toes 		1 0 1 5.9E-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: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		1 0 1 5.9E-02 0 0
CUI: C1850573
Disease: Slender build
Slender build 		1 2 1 5.9E-02 2 9.1E-02
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		1 0 1 5.9E-02 0 0
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		1 1 1 5.9E-02 1 4.5E-02
CUI: C1856888
Disease: Clinodactyly of the thumb
Clinodactyly of the thumb 		1 1 1 5.9E-02 1 4.5E-02
CUI: C1857946
Disease: Severe gastroesophageal reflux
Severe gastroesophageal reflux 		1 1 1 5.9E-02 1 4.5E-02
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		1 0 1 5.9E-02 0 0
CUI: C1861349
Disease: Absent distal interphalangeal creases
Absent distal interphalangeal creases 		1 1 1 5.9E-02 1 4.5E-02
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly 		1 0 1 5.9E-02 0 0
CUI: C1864720
Disease: MICROPHTHALMIA, ISOLATED 2
MICROPHTHALMIA, ISOLATED 2 		1 0 1 5.9E-02 0 0
CUI: C1864722
Disease: Microphthalmia, Cataracts, and Iris Abnormalities
Microphthalmia, Cataracts, and Iris Abnormalities 		1 0 1 5.9E-02 0 0