Mason type diabetes

Disease Term Disease ID Gene Symbol Classification References Source
Maturity onset diabetes mellitus in young C0342276 ABCC8 Causal Pathogenic evidence from ClinVar 21989597 ClinVar
GCK Causal Pathogenic evidence from ClinVar 9049484, 10426385, 10525657, 10753050, 12442280, 12627330, 15277402, 16731834, 17079173, 21831042, 21844708, 21921030, 22389783, 22498247, 22820548, 24578721, 25015100, 25306193, 25414397, 25525159, 25555642, 27080136, 28842611, 29284910 ClinVar
HNF1A Causal Pathogenic evidence from ClinVar 21844708, 22498247 ClinVar
HNF1B Causal Pathogenic evidence from ClinVar - ClinVar
HNF4A Causal Pathogenic evidence from ClinVar 21844708, 22498247 ClinVar
KCNJ11 Causal Pathogenic evidence from ClinVar 22701567 ClinVar
APPL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26073777 -
BLK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19667185 -
CEL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21844708 -
CERKL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
INS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22498247 -
KLF11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21844708 -
NEUROD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20573748, 21844708, 22498247, 26669242 -
PAX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17426099, 21263211, 22521316, 25041077 -
PDX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21844708, 22498247 -
MODY 552 ABCC8 Causal Pathogenic evidence from ClinVar - ClinVar
GCK Causal Pathogenic evidence from ClinVar - ClinVar
HNF1A Causal Pathogenic evidence from ClinVar - ClinVar
HNF4A Causal Pathogenic evidence from ClinVar - ClinVar
KCNJ11 Causal Pathogenic evidence from ClinVar - ClinVar
APPL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BLK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CEL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
INS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KLF11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEUROD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PAX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PDX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) C1838100 HNF1A Causal Pathogenic evidence from ClinVar 8945470, 9032114, 9075818, 9075819, 9097962, 9166684, 9287053, 9392505, 9439666, 9626139, 9754819, 10078571, 10102714, 10482964, 10588527, 10754480, 10966642, 11272211, 12453420, 12453976, 12488961, 17573900, 18003757, 19150152, 19339519, 20132997, 22802087, 23348805, 25414397, 29753610 ClinVar
C12orf43 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HNF1A-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Maturity-Onset Diabetes of the Young, Type 1 C1852093 HNF4A Causal Pathogenic evidence from ClinVar 193395, 9243109, 9313765, 10389854, 10592235, 10768098, 15830177, 16917892, 17407387, 20164212, 21115832, 22802087, 23348805, 23485969, 24285859, 24947580, 25819479, 26059258, 27245055, 28242437, 28458902, 28693455 ClinVar
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 C4225365 KCNJ11 Causal Pathogenic evidence from ClinVar 21054355, 21210267, 22701567, 27033559 ClinVar
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 C4225299 APPL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26073777 -
Maturity-onset diabetes of the young, type 11 C3150618 BLK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FAM167A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION C1853297 CEL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16369531, 25160620 -
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder) C1853371 CERKL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEUROD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10545951, 11719843, 20573748, 26669242, 26773576 -
Maturity-onset diabetes of the young, type 10 C3150617 INS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17855560, 18162506, 18192540, 20226046, 25423173, 25542748 -
INS-IGF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17855560, 18162506, 18192540, 20226046, 25542748 -
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 (disorder) C1864839 KLF11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15774581 -
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) C2677132 PAX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17426099 -
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) C1833382 PDX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21115832 -