Tubulinopathy

Disease Term Disease ID Gene Symbol Classification References Source
TUBULINOPATHY
MONDO:0100153
TUBA1A Causal
17218254 17584854 18728072 21403111 22948023 26493046 33137126 35127710 35837997 35892608
ClinGen Disgenet
TUBB2A Causal
24702957 28840640 29547997 32203252 32571897 33776625
ClinGen GWAS catalog
TUBULINOPATHY-ASSOCIATED DYSGYRIA
467166MONDO:0018763C5568850
TUBA1A Causal
26130693
Disgenet Orphanet
TUBB2B Unknown
26130693
GWAS catalog Orphanet
TUBB3 Unknown
26130693
Disgenet Orphanet