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: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		13 13 5 0.33 4 0.27
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		2 0 2 0.29 0 0
CUI: C1851443
Disease: Cerebrooculofacioskeletal Syndrome 3
Cerebrooculofacioskeletal Syndrome 3 		2 0 2 0.29 0 0
CUI: C1968561
Disease: Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Xeroderma Pigmentosum, Type G-Cockayne Syndrome 		2 0 2 0.29 0 0
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		2 0 2 0.29 0 0
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		5 0 2 0.20 0 0
CUI: C4551520
Disease: Intention tremor
Intention tremor 		5 5 2 0.20 2 0.22
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		1 0 1 0.14 0 0
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		1 1 1 0.14 1 0.17
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		1 0 1 0.14 0 0
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		1 1 1 0.14 1 0.17
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		1 10 1 0.14 1 6.7E-02
CUI: C1836336
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H 		1 8 1 0.14 1 7.7E-02
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		1 7 1 0.14 1 8.3E-02
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy 		1 0 1 0.14 0 0
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		1 13 1 0.14 1 5.6E-02
CUI: C1843183
Disease: Charcot-Marie-Tooth disease, Type 4A, axonal form
Charcot-Marie-Tooth disease, Type 4A, axonal form 		1 0 1 0.14 0 0
CUI: C1843852
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 		1 2 1 0.14 1 0.14
CUI: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia 		1 0 1 0.14 0 0
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		1 21 1 0.14 1 3.8E-02
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		1 11 1 0.14 1 6.2E-02
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		1 0 1 0.14 0 0
CUI: C4016973
Disease: NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE 		1 0 1 0.14 0 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		1 1 1 0.14 1 0.17
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		1 1 1 0.14 1 0.17