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: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		2 0 2 0.50 0 0
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		2 9 2 0.50 2 5.7E-02
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		2 9 2 0.50 2 5.7E-02
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		2 22 2 0.50 21 0.72
CUI: C3151229
Disease: FEBRILE SEIZURES, FAMILIAL, 3B
FEBRILE SEIZURES, FAMILIAL, 3B 		2 0 2 0.50 0 0
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy 		2 0 2 0.50 0 0
CUI: C4012054
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID 		2 0 2 0.50 0 0
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		3 9 2 0.40 2 5.7E-02
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		3 3 2 0.40 1 3.3E-02
CUI: C1867971
Disease: Acute episodes of neuropathic symptoms
Acute episodes of neuropathic symptoms 		3 0 2 0.40 0 0
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		4 0 2 0.33 0 0
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) 		1 22 1 0.25 1 2.0E-02
CUI: C1840391
Disease: Pseudohypoaldosteronism, Type IIc
Pseudohypoaldosteronism, Type IIc 		1 2 1 0.25 2 7.1E-02
CUI: C1848735
Disease: Developmental delay, mild
Developmental delay, mild 		1 0 1 0.25 0 0
CUI: C1864929
Disease: Cerebellar atrophy, progressive
Cerebellar atrophy, progressive 		1 0 1 0.25 0 0
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		1 19 1 0.25 1 2.2E-02
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		1 35 1 0.25 1 1.6E-02
CUI: C0004158
Disease: Athetosis
Athetosis 		2 0 1 0.20 0 0
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		2 0 1 0.20 0 0
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		2 0 1 0.20 0 0
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		2 0 1 0.20 0 0
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		2 0 1 0.20 0 0
CUI: C2751756
Disease: Febrile Convulsions, Familial, 3a
Febrile Convulsions, Familial, 3a 		2 0 1 0.20 0 0
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		3 0 1 0.17 0 0
CUI: C0677600
Disease: Inspiratory stridor
Inspiratory stridor 		3 0 1 0.17 0 0