Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 GeneticVariation disease BEFREE Since thyroid cancer is rare among children and adolescents, we hypothesize that the LARP7 variants identified in our patient are responsible for both Alazami syndrome and tumor susceptibility. 31656314 2020
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 GeneticVariation disease BEFREE LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters. 30006060 2019
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 GeneticVariation disease BEFREE Biallelic LARP7 loss-of-function variants underlie Alazami syndrome characterized by growth retardation and intellectual disability. 31467394 2019
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 GeneticVariation disease BEFREE Whole exome sequencing (WES) identified two novel pathogenic variants in LARP7 (c.213_214dup and c.651_655del), indicating a diagnosis of Alazami syndrome. 26374271 2016
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 Biomarker disease GENOMICS_ENGLAND Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. 26607181 2016
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing (WES) identified two novel pathogenic variants in LARP7 (c.213_214dup and c.651_655del), indicating a diagnosis of Alazami syndrome. 26374271 2016
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 GermlineCausalMutation disease ORPHANET Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. 22865833 2012
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 GeneticVariation disease BEFREE Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. 22865833 2012
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 GeneticVariation disease CLINVAR
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 Biomarker disease CTD_human
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		0.750 CausalMutation disease CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.420 Biomarker disease GENOMICS_ENGLAND Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. 26374271 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.420 GeneticVariation disease BEFREE Loss-of-function germline mutations in La ribonucleoprotein domain family, member 7 (LAPR7) have recently been linked to PD. 24768001 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.420 GeneticVariation disease BEFREE Analysis reveals a novel underlying mechanism for PD involving depletion of 7SK, an abundant cellular noncoding RNA (ncRNA), due to mutation of its chaperone LARP7. 22865833 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.420 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE Biallelic LARP7 loss-of-function variants underlie Alazami syndrome characterized by growth retardation and intellectual disability. 31467394 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. 29576627 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 GeneticVariation group BEFREE Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. 26607181 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.320 Biomarker disease GENOMICS_ENGLAND Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. 26374271 2016
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.320 GeneticVariation disease BEFREE Loss-of-function germline mutations in La ribonucleoprotein domain family, member 7 (LAPR7) have recently been linked to PD. 24768001 2014
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.320 GeneticVariation disease BEFREE Analysis reveals a novel underlying mechanism for PD involving depletion of 7SK, an abundant cellular noncoding RNA (ncRNA), due to mutation of its chaperone LARP7. 22865833 2012
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011