Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225332
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 10
LEUKODYSTROPHY, HYPOMYELINATING, 10 		0.700 Biomarker disease GENOMICS_ENGLAND Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360 2017
CUI: C4225332
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 10
LEUKODYSTROPHY, HYPOMYELINATING, 10 		0.700 CausalMutation disease CLINVAR Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360 2017
CUI: C4225332
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 10
LEUKODYSTROPHY, HYPOMYELINATING, 10 		0.700 GermlineCausalMutation disease ORPHANET PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. 27130255 2016
CUI: C4225332
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 10
LEUKODYSTROPHY, HYPOMYELINATING, 10 		0.700 GeneticVariation disease CLINVAR Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. 25865492 2015
CUI: C4225332
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 10
LEUKODYSTROPHY, HYPOMYELINATING, 10 		0.700 GeneticVariation disease UNIPROT Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. 25865492 2015
CUI: C4225332
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 10
LEUKODYSTROPHY, HYPOMYELINATING, 10 		0.700 Biomarker disease CTD_human
CUI: C4225332
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 10
LEUKODYSTROPHY, HYPOMYELINATING, 10 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.300 GermlineCausalMutation disease ORPHANET Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. 27130255 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Here, we report mutations in PYCR2, which encodes an enzyme in the proline biosynthesis pathway, as the cause of a unique syndrome characterized by postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume. 25865492 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 Biomarker disease HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 GeneticVariation disease BEFREE Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360 2017
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 GeneticVariation disease BEFREE The characteristic clinical presentation of patients with PYCR2 mutations included failure to thrive, microcephaly, craniofacial dysmorphism, progressive psychomotor disability, hyperkinetic movements, and axial hypotonia with variable appendicular spasticity. 27130255 2016
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 Biomarker disease HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 Biomarker disease HPO
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation phenotype CLINVAR Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360 2017
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO