CDAN1, codanin 1, 146059

N. diseases: 77; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 Biomarker disease BEFREE The first CDA partly accounted for genetically has been CDA 1, through the discovery in 2002 of the gene responsible, CDAN1, encoding codanin-1. 21378561 2011
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene. 18575862 2008
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 GeneticVariation disease LHGDN Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene. 18575862 2008
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 GeneticVariation disease LHGDN CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus. 12434312 2002
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 GeneticVariation disease BEFREE CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus. 12434312 2002
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 Biomarker disease BEFREE Three main types of CDA have been distinguished: CDA I and CDA III, whose loci have been already mapped, and CDA II (MIM 224100), the most frequent among CDAs, which is transmitted as an autosomal recessive trait and is known also as "HEMPAS" (hereditary erythroblast multinuclearity with positive acidified serum). 9345103 1997
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 Biomarker disease BEFREE Neither deficiency of CD44 nor absence of Colton antigens are general features of CDA because erythrocytes from patients with CDA I, CDA II, CDA III, and two other unclassified CDAs had normal expression of CD44 and normal Colton blood group phenotypes. 7507739 1994
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.390 Biomarker disease CTD_human
CUI: C0271934
Disease: Congenital dyserythropoietic anemia, type III
Congenital dyserythropoietic anemia, type III 		0.300 Biomarker disease CTD_human
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		0.300 Biomarker disease CTD_human
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE The main outcomes selected for GRADE analysis were clinical remission at week 8 (Crohn's Disease Activity Index [CDAI] ≤150), clinical response at week 8 (CDAI reduction ≥ 100 or clinical remission), and serious adverse events. 31476018 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE The patients with moderate-to-severe active CD had a statistically significant higher value of CDAI and hsCRP concentrations compared to those being in the asymptomatic remission or at the mildly active stage of the disease. 31646581 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 AlteredExpression disease BEFREE Key outcomes of interest were clinical response (CD activity index [CDAI] reduction of 100 points; CDAI-100) and remission (CDAI score under 150 points; CDAI < 150). 30727745 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE Analyses of efficacy using Crohn's Disease Activity Index [CDAI] endpoints [remission, clinical response [CR]-70, CR-100, patient-reported outcome [PRO] remission] or Harvey-Bradshaw Index [HBI] endpoints [remission/response] were conducted for induction and maintenance treatment periods. 30753371 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE CD anti-TNF naïve patients starting anti-TNF treatment due to active disease [Crohn's Disease Activity Index (CDAI > 150)] were included. 31598133 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 AlteredExpression disease BEFREE Patients who achieved clinical response (defined as delta Crohn's disease activity index [CDAI] > 70 and CDAI < 200) at 10-14 weeks after the start of infliximab or adalimumab were included. 29935082 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 AlteredExpression disease BEFREE Disease activity was assessed by Harvey-Bradshow Crohn's disease activity index(Harvey-Bradshow CDAI). 30278183 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 AlteredExpression disease BEFREE Primary outcome was clinical remission (Crohn's disease activity index [CDAI]<150, Mayo Clinic Score <3); secondary outcomes were clinical response and mucosal healing. 29788260 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE Patients who did not achieve deep remission, defined as clinical remission (Crohn's Disease Activity Index [CDAI] <150) and endoscopic remission (Crohn's Disease Endoscopic Index of Severity [CDEIS] ≤4, or ≤2 for patients with isolated ileitis), at week 12 received open-label intravenous therapy with 600 mg risankizumab every 4 weeks for 12 weeks; patients in deep remission at week 12 entered a 12-week washout phase. 30056030 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE Efficacy variables included clinical response (Crohn's Disease Activity Index [CDAI] decrease from baseline ≥70/≥100 points [CR-70/CR-100]) and remission [CDAI<150], steroid discontinuation and fistula remission [absence of drainage]. 29697818 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 AlteredExpression disease BEFREE Primary outcome was clinical remission (Crohn's disease activity index [CDAI] < 150 or pediatric CDAI <10, Mayo Clinic Score <3); secondary outcomes were clinical response and mucosal healing. 29867171 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 AlteredExpression disease BEFREE 193/720 (27%) received anti-tubercular therapy which significantly contributed to diagnostic delay (OR: 2.47; 95% CI: 1.76-3.47, P < 0.001) with 47% showing initial clinical response (Crohn's disease activity index- CDAI decrease >100). 29572889 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE At Week 8, ustekinumab-treated responders (Crohn's Disease Activity Index [CDAI] reduction ≥100 or CDAI <150 points) were re-randomised to subcutaneous maintenance therapy [IM-UNITI, n = 388] with placebo, ustekinumab 90 mg every 12 weeks [q12w], or ustekinumab 90 mg every 8 weeks [q8w], for 44 additional weeks. 29726939 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE The primary outcome for this analysis was 3-month steroid-free clinical remission at 1 year after HSCT (Crohn's Disease Activity Index [CDAI] <150). 28497755 2017