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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 1 2.6E-02 2 1.1E-02
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		2 2 1 3.7E-02 1 5.7E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 4 3.2E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		4 0 1 3.4E-02 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		13 16 1 2.6E-02 2 1.1E-02
CUI: C4021862
Disease: Absent epiphyses
Absent epiphyses 		1 1 1 3.8E-02 1 5.7E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 1 1.4E-02 2 8.2E-03
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		23 33 1 2.1E-02 1 4.8E-03
CUI: C0003467
Disease: Anxiety
Anxiety 		13 0 1 2.6E-02 0 0
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		4 4 1 3.4E-02 1 5.6E-03
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		5 13 2 6.9E-02 1 5.3E-03
CUI: C0003578
Disease: Apnea
Apnea 		7 0 1 3.1E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 1 1.4E-02 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		23 0 2 4.3E-02 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		6 56 1 3.2E-02 1 4.3E-03
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		2 24 2 7.7E-02 5 2.6E-02
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		2 17 2 7.7E-02 12 6.7E-02
CUI: C4017203
Disease: BARDET-BIEDL SYNDROME 14, MODIFIER OF
BARDET-BIEDL SYNDROME 14, MODIFIER OF 		1 0 1 3.8E-02 0 0
CUI: C0264172
Disease: Barrel chest
Barrel chest 		1 2 1 3.8E-02 2 1.1E-02
CUI: C0456909
Disease: Blindness
Blindness 		15 18 1 2.5E-02 2 1.0E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 1.8E-02 0 0
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		7 0 1 3.1E-02 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 0 1 2.1E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.4E-02 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		2 3 1 3.7E-02 2 1.1E-02