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: C4023422
Disease: Long palm
Long palm 		1 0 1 1.00 0 0
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		1 6 1 1.00 1 0.17
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		2 2 1 0.50 1 0.50
CUI: C0041105
Disease: Trismus
Trismus 		2 2 1 0.50 1 0.50
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		2 2 1 0.50 1 0.50
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		2 0 1 0.50 0 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		2 2 1 0.50 1 0.50
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		2 2 1 0.50 1 0.50
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures 		2 2 1 0.50 1 0.50
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		3 0 1 0.33 0 0
CUI: C0020649
Disease: Hypotension
Hypotension 		3 0 1 0.33 0 0
CUI: C0085639
Disease: Falls
Falls 		3 3 1 0.33 1 0.33
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		3 3 1 0.33 1 0.33
CUI: C0566620
Disease: Nasal voice
Nasal voice 		3 3 1 0.33 1 0.33
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 0 1 0.33 0 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		3 0 1 0.33 0 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		3 3 1 0.33 1 0.33
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		3 0 1 0.33 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		3 0 1 0.33 0 0
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		4 0 1 0.25 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		4 8 1 0.25 1 0.12
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		4 6 1 0.25 1 0.17
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		4 4 1 0.25 1 0.25
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		4 4 1 0.25 1 0.25
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		4 0 1 0.25 0 0