Cortical dysplasia with other brain malformations

Disease Term Disease ID Gene Symbol Classification References Source
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 C4748540 CTNNA2 Causal Pathogenic evidence from ClinVar 30013181 ClinVar
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 C3809414 KIF2A Causal Pathogenic evidence from ClinVar 23603762, 27896282 ClinVar
DIMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 C3809013 KIF5C Causal Pathogenic evidence from ClinVar 23033978, 23603762, 24812067, 26633545, 29048727 ClinVar
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 C4014283 TUBB Causal Pathogenic evidence from ClinVar 23246003, 26637975, 30016746 ClinVar
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 C3810407 TUBB2A Causal Pathogenic evidence from ClinVar 24702957, 25326637 ClinVar
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 C3552236 TUBB2B Causal Pathogenic evidence from ClinVar 19465910, 22333901, 23001566, 26732629 ClinVar
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 C3808397 TUBB3 Causal Pathogenic evidence from ClinVar 20829227, 25008804, 29706646 ClinVar
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 C3809420 TUBG1 Causal Pathogenic evidence from ClinVar 23603762, 29671837, 29706637 ClinVar
RETREG3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -