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: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		11 11 3 0.12 1 3.1E-02
CUI: C1843108
Disease: Short palm
Short palm 		11 13 3 0.12 3 9.4E-02
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index 		2 3 2 0.12 2 8.7E-02
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		2 0 2 0.12 0 0
CUI: C4225330
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 		2 0 2 0.12 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 2 0.11 3 0.13
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		4 5 2 0.11 2 8.0E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		15 21 3 0.10 3 7.5E-02
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		6 0 2 9.5E-02 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		7 11 2 9.1E-02 3 1.0E-01
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 4 8.9E-02 5 8.6E-02
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 2 8.7E-02 2 6.5E-02
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 29 3 8.6E-02 2 4.1E-02
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		9 11 2 8.3E-02 2 6.5E-02
CUI: C0575802
Disease: Small hand
Small hand 		24 31 3 7.9E-02 3 6.0E-02
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		11 20 2 7.7E-02 2 5.0E-02
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		14 0 2 6.9E-02 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 61 3 6.5E-02 2 2.5E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 50 3 6.4E-02 5 7.5E-02
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: C0221358
Disease: Long narrow head
Long narrow head 		19 26 2 5.9E-02 2 4.3E-02
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