Results for "Joubert Syndrome "

*DSI: Disease Specificity Index for the gene. **DPI: Disease Pleiotropy Index for the gene.


view_listDiseases and Genes
Gene ID filter_list Gene Symbol filter_list Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
NO RESULT FOUND
54806 AHI1 JOUBERT SYNDROME 3 Nervous System Diseases ; Eye Diseases ; Pathological Conditions, Signs and Symptoms ; 0.565 0.793
54806 AHI1 Joubert syndrome with ocular defect N/A 0.565 0.793
200894 ARL13B JOUBERT SYNDROME 8 (disorder) Nervous System Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.752 0.345
27077 B9D1 JOUBERT SYNDROME 27 N/A 0.633 0.586
80776 B9D2 JOUBERT SYNDROME 34 N/A 0.663 0.448
57545 CC2D2A JOUBERT SYNDROME 9 (disorder) Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.559 0.621
57545 CC2D2A JOUBERT SYNDROME 9/15, DIGENIC N/A 0.559 0.621
153241 CEP120 Joubert syndrome with ocular defect N/A 0.663 0.448
153241 CEP120 JOUBERT SYNDROME 31 N/A 0.663 0.448
80184 CEP290 JOUBERT SYNDROME 5 Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; 0.546 0.724
95681 CEP41 Joubert syndrome with ocular defect N/A 0.727 0.379
79848 CSPP1 Joubert syndrome with Jeune asphyxiating thoracic dystrophy N/A 0.63 0.586
56623 INPP5E Joubert syndrome with ocular defect N/A 0.63 0.552
9786 KIAA0586 JOUBERT SYNDROME 23 N/A 0.659 0.517
9786 KIAA0586 Joubert syndrome with Jeune asphyxiating thoracic dystrophy N/A 0.659 0.517
374654 KIF7 JOUBERT SYNDROME 12 N/A 0.573 0.621
374654 KIF7 JOUBERT SYNDROME 12/15, DIGENIC N/A 0.573 0.621
54903 MKS1 Joubert syndrome with ocular defect N/A 0.546 0.69
4867 NPHP1 JOUBERT SYNDROME 4 (disorder) Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.619 0.552
8481 OFD1 JOUBERT SYNDROME 10 (disorder) Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.547 0.724
23322 RPGRIP1L JOUBERT SYNDROME 4 (disorder) Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.569 0.655
23322 RPGRIP1L JOUBERT SYNDROME 7 Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.569 0.655
51684 SUFU JOUBERT SYNDROME 32 N/A 0.565 0.621
26123 TCTN3 JOUBERT SYNDROME 18 N/A 0.607 0.517
51524 TMEM138 JOUBERT SYNDROME 16 N/A 0.72 0.345
51259 TMEM216 JOUBERT SYNDROME 2 Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.582 0.552
79583 TMEM231 JOUBERT SYNDROME 20 N/A 0.611 0.552
65062 TMEM237 JOUBERT SYNDROME 4 (disorder) Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.652 0.345
91147 TMEM67 JOUBERT SYNDROME 6 Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.559 0.655
79809 TTC21B JOUBERT SYNDROME 11 N/A 0.696 0.379
23090 ZNF423 JOUBERT SYNDROME 19 N/A 0.645 0.586