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: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant
0 2 0 0 1 5.0E-03
CUI: C0268323
Disease: Familial porphyria cutanea tarda
Familial porphyria cutanea tarda
0 3 0 0 1 5.0E-03
CUI: C0341479
Disease: Infected pancreatic necrosis
Infected pancreatic necrosis
0 2 0 0 1 5.0E-03
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis
0 2 0 0 1 5.0E-03
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1
0 3 0 0 1 5.0E-03
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
0 3 0 0 1 5.0E-03
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
57 0 1 1.2E-03 0 0
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
52 0 1 1.3E-03 0 0
CUI: C0001916
Disease: Albinism
Albinism
38 0 1 1.3E-03 0 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
38 0 1 1.3E-03 0 0
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
38 0 1 1.3E-03 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
30 0 1 1.3E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
28 0 1 1.3E-03 0 0
Auditory neuropathy spectrum disorder
28 0 1 1.3E-03 0 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis
27 0 1 1.3E-03 0 0
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
26 0 1 1.3E-03 0 0
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome
25 0 1 1.3E-03 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
25 0 1 1.3E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
25 0 1 1.3E-03 0 0
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired
25 0 1 1.3E-03 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
25 0 1 1.3E-03 0 0
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
24 0 1 1.3E-03 0 0
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs
24 0 1 1.3E-03 0 0
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis
24 0 1 1.3E-03 0 0
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
23 0 1 1.3E-03 0 0