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 1 4.2E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 1.6E-02 0 0
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		7 0 1 0.14 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 0 1 3.6E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 1 2.2E-02 1 1.9E-02
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		17 0 1 5.9E-02 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		20 0 1 5.0E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 1 3.0E-03 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 1 0.12 1 9.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 4.2E-03 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 1 2.9E-02 1 2.5E-02
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		9 11 1 0.11 1 9.1E-02
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		11 11 1 9.1E-02 1 9.1E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		18 32 1 5.6E-02 1 3.1E-02
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		8 0 1 0.12 0 0
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index 		2 3 1 0.50 1 0.33
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 0 1 2.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 1 6.2E-02 1 5.3E-02
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		5 0 1 0.20 0 0
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		2 9 1 0.50 1 0.11
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 1 3.6E-02 1 2.9E-02
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		2 2 1 0.50 1 0.50
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		11 11 1 9.1E-02 1 9.1E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 2.3E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 1 5.3E-03 1 3.4E-03