Source: CURATED ×
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: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		0 3 0 0 1 1.0E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0 76 0 0 2 1.2E-02
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0 13 0 0 1 9.4E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0 208 0 0 1 3.3E-03
CUI: C1301937
Disease: Talipes
Talipes 		0 2 0 0 1 1.1E-02
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		0 7 0 0 1 1.0E-02
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0 5 0 0 3 3.1E-02
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		0 4 0 0 1 1.0E-02
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		0 3 0 0 1 1.0E-02
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		0 7 0 0 1 1.0E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0 24 0 0 1 8.5E-03
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		0 3 0 0 2 2.1E-02
CUI: C1836829
Disease: Developmental stagnation at onset of seizures
Developmental stagnation at onset of seizures 		0 2 0 0 1 1.1E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0 50 0 0 1 7.0E-03
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0 21 0 0 1 8.8E-03
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		0 4 0 0 1 1.0E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0 59 0 0 1 6.6E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0 31 0 0 1 8.1E-03
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0 17 0 0 1 9.1E-03
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0 20 0 0 1 8.8E-03
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0 46 0 0 1 7.2E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0 411 0 0 6 1.2E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		0 9 0 0 1 9.8E-03
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0 13 0 0 1 9.4E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0 29 0 0 2 1.7E-02