Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748081
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 		0.600 Biomarker disease GENOMICS_ENGLAND Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 30914295 2019
CUI: C4748081
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 		0.600 Biomarker disease GENOMICS_ENGLAND Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776 2018
CUI: C4748081
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 		0.600 GeneticVariation disease UNIPROT Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776 2018
CUI: C4748081
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290 2017
CUI: C4748081
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 		0.600 CausalMutation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease GENOMICS_ENGLAND Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease HPO
CUI: C0009024
Disease: Clonus
Clonus 		0.100 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		0.100 Biomarker disease HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C1836038
Disease: Poor head control
Poor head control 		0.100 Biomarker phenotype HPO
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 Biomarker phenotype HPO
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.100 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE UFC1 bound to miR-498 to antagonize its tumor suppressive effect on Lin28b. 29970131 2018