ZMIZ1, zinc finger MIZ-type containing 1, 57178

N. diseases: 96; N. variants: 38
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group BEFREE ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. 31833199 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 GeneticVariation group BEFREE Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. 30639322 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group GENOMICS_ENGLAND Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group GENOMICS_ENGLAND A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. 26163108 2015