NHLRC2, NHL repeat containing 2, 374354

N. diseases: 37; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748939
Disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 		0.430 GeneticVariation disease UNIPROT NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. 29423877 2018
CUI: C4748939
Disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 		0.430 GeneticVariation disease BEFREE Mutations of NHLRC2, including Asp148Tyr, have been recently associated with a novel FINCA disease (fibrosis, neurodegeneration, cerebral angiomatosis), which is fatal in early childhood. 30138417 2018
CUI: C4748939
Disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 		0.430 GeneticVariation disease BEFREE Fibrosis, neurodegeneration and cerebral angiomatosis (FINCA disease) have been described in patients with mutations in NHL repeat-containing protein 2 (NHLRC2). 30239752 2018
CUI: C4748939
Disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 		0.430 GeneticVariation disease BEFREE NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. 29423877 2018
CUI: C4748939
Disease: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 		0.430 CausalMutation disease CLINVAR
CUI: C0004144
Disease: Atelectasis
Atelectasis 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		0.100 Biomarker phenotype HPO
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		0.100 Biomarker phenotype HPO
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		0.100 Biomarker phenotype HPO
CUI: C0231835
Disease: Tachypnea
Tachypnea 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		0.100 Biomarker phenotype HPO