Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		0.100 Biomarker phenotype HPO
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		0.100 Biomarker phenotype HPO
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		0.100 Biomarker disease HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		0.100 Biomarker disease HPO
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 Biomarker disease BEFREE We used two MB cell line (D283-MED and MEB-Med8A) and a widely used glioblastoma cell line (U87MG) for comparison. 30943920 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 Biomarker disease BEFREE PomGnT1 enhances temozolomide resistance by activating epithelial-mesenchymal transition signaling in glioblastoma. 29048655 2017
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.010 Biomarker disease BEFREE We used two MB cell line (D283-MED and MEB-Med8A) and a widely used glioblastoma cell line (U87MG) for comparison. 30943920 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		0.330 Biomarker disease BEFREE At present, of the six proteins involved on alpha-dystroglycanopathies, the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis. 20816175 2010
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		0.330 Biomarker disease BEFREE The protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene is one of 18 genes involved in the pathogenesis of α-dystroglycanopathies(α-DGPs) such as muscle-eye-brain disease (MEB). 28765568 2017
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		0.330 Biomarker disease CTD_human
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		0.330 Biomarker disease BEFREE The secondary α-dystroglycanopathies usually present in infancy as congenital muscular dystrophies but may manifest later in childhood or adult life (limb-girdle muscular dystrophy (LGMD) 2I, LGMD2K, LGMD2M, LGMD2N, and LGMD2O). 21496628 2011
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.100 Biomarker disease HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		0.100 Biomarker phenotype HPO
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		0.100 Biomarker phenotype HPO
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.100 Biomarker phenotype HPO
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		0.100 Biomarker disease HPO
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		0.100 Biomarker phenotype HPO
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE We apply whole-exome sequencing (WES) to ASD families enriched for inherited causes due to consanguinity and find familial ASD associated with biallelic mutations in disease genes (AMT, PEX7, SYNE1, VPS13B, PAH, and POMGNT1). 23352163 2013
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.020 GeneticVariation disease BEFREE In our study, we have identified recessive mutations in POMGNT1, which encodes an essential component in O-mannosylation pathway, in three unrelated families with autosomal recessive retinitis pigmentosa (RP), but without extraocular involvement. 26908613 2016
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.020 GeneticVariation disease BEFREE We identified a novel mutation in POMGNT1 that causes nonsyndromic autosomal recessive retinitis pigmentosa, adding to the genetic heterogeneity of this retinal disease. 27391550 2016