Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.100 CausalMutation disease CLINVAR PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 29618921 2018
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.100 CausalMutation disease CLINVAR PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 29618921 2018
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.100 CausalMutation disease CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.100 CausalMutation disease CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846 2017
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.100 CausalMutation disease CLINVAR Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. 27431685 2016
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.100 CausalMutation disease CLINVAR Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. 27431685 2016
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 GeneticVariation disease GWASCAT Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative. 25027321 2014
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.100 CausalMutation disease CLINVAR Missense mutations in the DNA-binding region and termination codon in PAX6. 12552561 2003
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.100 CausalMutation disease CLINVAR Missense mutations in the DNA-binding region and termination codon in PAX6. 12552561 2003
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.100 CausalMutation disease CLINVAR Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 11309364 2001
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.100 CausalMutation disease CLINVAR Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 11309364 2001
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.100 CausalMutation disease CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 GeneticVariation disease CLINVAR
CUI: C0042798
Disease: Low Vision
Low Vision 		0.100 GeneticVariation disease CLINVAR
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.100 CausalMutation disease CLINVAR
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.100 CausalMutation disease CLINVAR
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		0.100 CausalMutation disease CLINVAR
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		0.100 CausalMutation disease CLINVAR
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.110 GeneticVariation disease BEFREE Human mapping studies have shown that the aniridia (AN2) gene, which is part of the Wilms tumor susceptibility, aniridia, genitourinary abnormalities, and mental retardation (WAGR) complex, is also between FSHB and CAT on human chromosome 11. 2347591 1990
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.110 CausalMutation disease CLINVAR
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.300 Biomarker group CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.300 Biomarker disease CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016