Source: ALL
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: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		2 0 2 0.50 0 0
CUI: C3151229
Disease: FEBRILE SEIZURES, FAMILIAL, 3B
FEBRILE SEIZURES, FAMILIAL, 3B 		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: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		4 0 2 0.33 0 0
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		5 0 2 0.29 0 0
CUI: C0234259
Disease: Sensitive to smells
Sensitive to smells 		1 0 1 0.25 0 0
CUI: C0238637
Disease: Anal pain
Anal pain 		1 0 1 0.25 0 0
CUI: C0240940
Disease: Scalp pain
Scalp pain 		1 0 1 0.25 0 0
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		6 0 2 0.25 0 0
CUI: C0271291
Disease: Corneal anesthesia
Corneal anesthesia 		1 0 1 0.25 0 0
CUI: C0342856
Disease: Coproporphyria
Coproporphyria 		1 0 1 0.25 0 0
CUI: C0342858
Disease: Homozygous acute intermittent porphyria
Homozygous acute intermittent porphyria 		1 0 1 0.25 0 0
CUI: C0554980
Disease: Moody (finding)
Moody (finding) 		1 0 1 0.25 0 0
CUI: C1142277
Disease: Brown urine
Brown urine 		1 1 1 0.25 1 0.33
CUI: C1263734
Disease: Coproporphyrinuria
Coproporphyrinuria 		1 0 1 0.25 0 0
CUI: C1268588
Disease: Porphyric polyneuropathy
Porphyric polyneuropathy 		1 0 1 0.25 0 0
CUI: C1867969
Disease: Porphyria, Acute Intermittent, Nonerythroid Variant
Porphyria, Acute Intermittent, Nonerythroid Variant 		1 0 1 0.25 0 0
CUI: C4017281
Disease: COPROPORPHYRIA, DIGENIC
COPROPORPHYRIA, DIGENIC 		1 0 1 0.25 0 0
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		6 3 2 0.25 1 0.20
CUI: C4553071
Disease: Anal Pain, CTCAE 5
Anal Pain, CTCAE 5 		1 0 1 0.25 0 0
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		7 14 2 0.22 1 6.2E-02
CUI: C0162533
Disease: Porphyrias, Hepatic
Porphyrias, Hepatic 		7 0 2 0.22 0 0
CUI: C0037650
Disease: Somatoform Disorder
Somatoform Disorder 		2 0 1 0.20 0 0
CUI: C0234241
Disease: Indifference to pain
Indifference to pain 		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