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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 5 2.0E-02 0 0
CUI: C0003076
Disease: Aniridia
Aniridia 		2 0 1 5.6E-02 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		5 0 1 4.8E-02 0 0
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		7 0 1 4.3E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 0 1 1.6E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.6E-03 0 0
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		1 0 1 5.9E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 1 9.6E-03 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 0 1 2.7E-02 0 0
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		6 0 2 9.5E-02 0 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		11 0 1 3.7E-02 0 0
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		3 0 1 5.3E-02 0 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		18 0 1 2.9E-02 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		8 0 1 4.2E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 2.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 3.1E-02 0 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		8 0 1 4.2E-02 0 0
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		2 0 1 5.6E-02 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 0 1 2.3E-02 0 0
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		1 0 1 5.9E-02 0 0
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		2 0 1 5.6E-02 0 0
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		4 0 1 5.0E-02 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		4 0 1 5.0E-02 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		11 0 1 3.7E-02 0 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		1 0 1 5.9E-02 0 0