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: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		2 2 2 0.29 1 0.11
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		2 2 2 0.29 2 0.25
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		2 2 2 0.29 2 0.25
CUI: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		2 2 2 0.29 1 0.11
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		2 13 2 0.29 2 0.11
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 3 2 0.25 1 1.0E-01
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		8 8 3 0.25 3 0.23
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		3 4 2 0.25 3 0.33
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		4 4 2 0.22 2 0.20
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		4 4 2 0.22 2 0.20
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		4 5 2 0.22 3 0.30
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		4 4 2 0.22 2 0.20
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		4 5 2 0.22 2 0.18
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		12 14 3 0.19 3 0.16
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		6 6 2 0.18 1 7.7E-02
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		6 6 2 0.18 1 7.7E-02
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		6 9 2 0.18 2 0.13
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		7 7 2 0.17 2 0.15
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		7 7 2 0.17 2 0.15
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		7 7 2 0.17 1 7.1E-02
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		14 111 3 0.17 1 8.5E-03
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		1 0 1 0.14 0 0
CUI: C0154828
Disease: Traction detachment of retina
Traction detachment of retina 		1 1 1 0.14 1 0.12
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		9 11 2 0.14 2 0.12
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		1 1 1 0.14 1 0.12