Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Congenital hypomyelinating neuropathy
11 0 3 0.20 0 0
CUI: C1854454
Disease: Axonal regeneration
Axonal regeneration
5 0 2 0.20 0 0
CUI: C1832776
Disease: Hypertrophic nerve changes
Hypertrophic nerve changes
6 0 2 0.18 0 0
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4
14 0 3 0.17 0 0
Hemolytic anemia due to hexokinase deficiency
1 0 1 0.14 0 0
CUI: C1335911
Disease: Salivary Gland Sialoblastoma
Salivary Gland Sialoblastoma
1 0 1 0.14 0 0
Charcot-Marie-Tooth Disease, Recessive Intermediate A
1 0 1 0.14 0 0
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k
1 0 1 0.14 0 0
Charcot-Marie-Tooth disease, Type 1D (disorder)
1 0 1 0.14 0 0
Neuropathy, hereditary motor and sensory, Russe type
1 0 1 0.14 0 0
CUI: C1861799
Disease: Catatrichy
Catatrichy
1 0 1 0.14 0 0
Yemenite deaf-blind hypopigmentation syndrome
1 0 1 0.14 0 0
CUI: C2675191
Disease: Polymicrogyria, Bilateral Occipital
Polymicrogyria, Bilateral Occipital
1 0 1 0.14 0 0
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11
1 0 1 0.14 0 0
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
1 0 1 0.14 0 0
CUI: C3266028
Disease: Pigmented actinic keratosis
Pigmented actinic keratosis
1 0 1 0.14 0 0
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
1 0 1 0.14 0 0
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
1 0 1 0.14 0 0
NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
1 0 1 0.14 0 0
CUI: C4022600
Disease: Peripheral amyelination
Peripheral amyelination
1 0 1 0.14 0 0
CUI: C4023430
Disease: Long-segment aganglionic megacolon
Long-segment aganglionic megacolon
1 0 1 0.14 0 0
Absence of stomach bubble on fetal sonography
1 1 1 0.14 1 1.00
CUI: C4025799
Disease: Ulnar claw
Ulnar claw
9 0 2 0.14 0 0
LETHAL CONGENITAL CONTRACTURE SYNDROME 7
1 7 1 0.14 1 0.14
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79
1 0 1 0.14 0 0