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: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0 24 0 0 1 9.4E-03
CUI: C0004158
Disease: Athetosis
Athetosis 		0 3 0 0 1 1.2E-02
CUI: C0014394
Disease: Enuresis
Enuresis 		0 3 0 0 1 1.2E-02
CUI: C0026961
Disease: Mydriasis
Mydriasis 		0 2 0 0 1 1.2E-02
CUI: C0030232
Disease: Pallor
Pallor 		0 4 0 0 1 1.2E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0 32 0 0 1 8.8E-03
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0 6 0 0 1 1.1E-02
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		0 2 0 0 1 1.2E-02
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		0 4 0 0 1 1.2E-02
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		0 3 0 0 1 1.2E-02
CUI: C0576225
Disease: Long foot
Long foot 		0 3 0 0 1 1.2E-02
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0 4 0 0 1 1.2E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0 24 0 0 1 9.4E-03
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0 6 0 0 1 1.1E-02
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0 13 0 0 1 1.1E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0 24 0 0 1 9.4E-03
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		0 6 0 0 1 1.1E-02
CUI: C1837732
Disease: Thickened helices
Thickened helices 		0 3 0 0 1 1.2E-02
CUI: C1838319
Disease: Primitive reflexes (palmomental, snout, glabellar)
Primitive reflexes (palmomental, snout, glabellar) 		0 1 0 0 1 1.2E-02
CUI: C1839783
Disease: Large forehead
Large forehead 		0 1 0 0 1 1.2E-02
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		0 10 0 0 1 1.1E-02
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0 10 0 0 1 1.1E-02
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		0 5 0 0 1 1.1E-02
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		0 6 0 0 1 1.1E-02
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		0 3 0 0 1 1.2E-02