Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE Most patients with loss of function mutations in JBTS17 exhibit cerebellar vermis hypoplasia and brainstem malformation. 31004438 2019
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 Biomarker disease BEFREE The HUG-5 composite distributions of mild/moderate and advanced glaucoma patients were tested for differences to measure sensitivity. 31107722 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.010 GeneticVariation disease BEFREE However, some patients with JBTS17 mutations show microcephaly and abnormal gyration. 31004438 2019
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.010 GeneticVariation disease BEFREE These variants were in the genes C5orf42 (associated with Joubert syndrome and orofaciodigital syndrome) and GYS2 (associated with glycogen synthase deficiency). 29961766 2019
CUI: C0042818
Disease: Visual discomfort
Visual discomfort 		0.010 AlteredExpression phenotype BEFREE The HUG-5 measures patient self-reported levels of visual discomfort, mobility, daily life activities, emotion, and social activities, as affected by the progression and management of glaucoma. 31107722 2019
CUI: C0302142
Disease: Deformity
Deformity 		0.010 GeneticVariation group BEFREE Most patients with loss of function mutations in JBTS17 exhibit cerebellar vermis hypoplasia and brainstem malformation. 31004438 2019
CUI: C0342748
Disease: Glycogen synthase deficiency
Glycogen synthase deficiency 		0.010 GeneticVariation disease BEFREE These variants were in the genes C5orf42 (associated with Joubert syndrome and orofaciodigital syndrome) and GYS2 (associated with glycogen synthase deficiency). 29961766 2019
CUI: C0039070
Disease: Syncope
Syncope 		0.010 GeneticVariation phenotype BEFREE Nevertheless, long-term follow-up revealed that C5orf42-mutated patients showed catch-up development and fainting of facial features contrary to KIF7-mutated patients. 29321670 2018
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.010 GeneticVariation disease BEFREE Three of the remaining families had (likely) pathogenic variants in the JBTS gene C5orf42, and one patient had a novel de novo frameshift variant in SHH known to cause autosomal dominant holoprosencephaly. 29321670 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.010 Biomarker disease BEFREE The recently completed BABY HUG trial investigated the safety and efficacy of hydroxyurea in infants with sickle cell anemia (SCA). 23606168 2013
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 Biomarker disease BEFREE The recently completed BABY HUG trial investigated the safety and efficacy of hydroxyurea in infants with sickle cell anemia (SCA). 23606168 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE We demonstrate that induced hUG expression reverses at least two of the most important characteristics of the transformed phenotype (i.e., anchorage-independent growth on soft agar and extracellular matrix invasion) of only those cancer cells that also express the hUG receptor. 10097146 1999
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		0.010 GeneticVariation disease BEFREE Our data indicate that candidate genes for atopic (allergic) asthma and Best's vitelliform macular dystrophy are in closest proximity to the hUG gene. 9022046 1997
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.010 GeneticVariation disease BEFREE This alteration in hUG gene-sequence in Best disease family appears to be a polymorphism. 9022046 1997
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		0.020 GeneticVariation disease BEFREE Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. 29605658 2018
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		0.020 Biomarker disease BEFREE C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 25846457 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 25846457 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 25846457 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014