Disease: PANCREATIC AND CEREBELLAR AGENESIS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 GeneticVariation disease BEFREE Mutations in the coding and non-coding regulatory sequences resulting in Ptf1a gain- or loss-of-function are associated with genetic diseases such as pancreatic and cerebellar agenesis in the rodent and human. 30470852 2019
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 Biomarker disease GENOMICS_ENGLAND Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. 24212882 2014
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 Biomarker disease GENOMICS_ENGLAND A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. 19650412 2009
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 Biomarker disease CTD_human A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. 19650412 2009
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 GermlineCausalMutation disease ORPHANET Mutations in PTF1A cause pancreatic and cerebellar agenesis. 15543146 2004
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 GeneticVariation disease BEFREE Mutations in PTF1A cause pancreatic and cerebellar agenesis. 15543146 2004
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in PTF1A cause pancreatic and cerebellar agenesis. 15543146 2004
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 Biomarker disease CTD_human Mutations in PTF1A cause pancreatic and cerebellar agenesis. 15543146 2004
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 Biomarker disease GENOMICS_ENGLAND Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome. 10507728 1999
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		0.720 CausalMutation disease CLINVAR