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: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		13 13 3 0.17 1 4.8E-02
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		7 8 2 0.15 2 0.13
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		8 8 2 0.14 2 0.13
CUI: C0238122
Disease: Fallopian Tube Carcinoma
Fallopian Tube Carcinoma 		1 0 1 0.12 0 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		1 1 1 0.12 1 0.11
CUI: C0345326
Disease: Congenital phimosis
Congenital phimosis 		1 1 1 0.12 1 0.11
CUI: C1854780
Disease: Flaring of rib cage
Flaring of rib cage 		1 1 1 0.12 1 0.11
CUI: C1857280
Disease: Infra-orbital crease
Infra-orbital crease 		1 1 1 0.12 1 0.11
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		1 10 1 0.12 1 5.6E-02
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		1 46 1 0.12 1 1.9E-02
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		1 1 1 0.12 1 0.11
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		1 0 1 0.12 0 0
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		1 0 1 0.12 0 0
CUI: C3810278
Disease: JOUBERT SYNDROME 22
JOUBERT SYNDROME 22 		1 2 1 0.12 1 1.0E-01
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		1 13 1 0.12 1 4.8E-02
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		1 12 1 0.12 2 0.11
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		1 1 1 0.12 1 0.11
CUI: C4025665
Disease: Aplasia/Hypoplasia involving the central nervous system
Aplasia/Hypoplasia involving the central nervous system 		1 1 1 0.12 1 0.11
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		1 1 1 0.12 1 0.11
CUI: C4540496
Disease: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 		1 7 1 0.12 1 6.7E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		2 661 1 0.11 1 1.5E-03
CUI: C0004158
Disease: Athetosis
Athetosis 		2 3 1 0.11 1 9.1E-02
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia 		2 0 1 0.11 0 0
CUI: C0029440
Disease: Osteoma
Osteoma 		2 0 1 0.11 0 0
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		2 0 1 0.11 0 0