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: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		1 1 1 0.50 1 0.50
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 1 1 0.50 1 0.50
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		1 0 1 0.50 0 0
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		1 1 1 0.50 1 0.50
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		1 1 1 0.50 1 0.50
CUI: C1856888
Disease: Clinodactyly of the thumb
Clinodactyly of the thumb 		1 1 1 0.50 1 0.50
CUI: C1866245
Disease: Hyperpigmented streaks
Hyperpigmented streaks 		1 1 1 0.50 1 0.50
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
Macular hypopigmented whorls, streaks, and patches 		1 1 1 0.50 1 0.50
CUI: C4022871
Disease: Extra-axial cerebrospinal fluid accumulation
Extra-axial cerebrospinal fluid accumulation 		1 1 1 0.50 1 0.50
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back 		1 1 1 0.50 1 0.50
CUI: C4024877
Disease: Hyperpigmented/hypopigmented macules
Hyperpigmented/hypopigmented macules 		1 1 1 0.50 1 0.50
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		1 0 1 0.50 0 0
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		1 5 1 0.50 1 0.17
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand 		1 1 1 0.50 1 0.50
CUI: C4476710
Disease: Delayed ability to sit
Delayed ability to sit 		1 1 1 0.50 1 0.50
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		2 2 1 0.33 1 0.33
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		2 19 1 0.33 1 5.0E-02
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		2 2 1 0.33 1 0.33
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		2 2 1 0.33 1 0.33
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation 		2 2 1 0.33 1 0.33
CUI: C3887548
Disease: Central Apnea
Central Apnea 		2 0 1 0.33 0 0
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		3 4 1 0.25 1 0.20
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen 		3 3 1 0.25 1 0.25
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		3 3 1 0.25 1 0.25
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		3 3 1 0.25 1 0.25