Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225225
Disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 		0.600 GeneticVariation disease UNIPROT Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. 26637975 2015
CUI: C4225225
Disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. 26637975 2015
CUI: C4225225
Disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 		0.600 GeneticVariation disease CLINVAR
CUI: C4225225
Disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 		0.600 CausalMutation disease CLINVAR
CUI: C0473586
Disease: Michelin tire baby syndrome
Michelin tire baby syndrome 		0.300 GermlineCausalMutation disease ORPHANET Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. 26637975 2015
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011334
Disease: Dental caries
Dental caries 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013604
Disease: Edema
Edema 		0.100 Biomarker phenotype HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.100 Biomarker group HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0241165
Disease: Thick skin
Thick skin 		0.100 Biomarker phenotype HPO
CUI: C0266544
Disease: Microcornea
Microcornea 		0.100 Biomarker disease HPO