Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C4225225
Disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 		0.600 CausalMutation disease CLINVAR
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 AlteredExpression disease LHGDN Overexpression of EB1 in human esophageal squamous cell carcinoma (ESCC) may promote cellular growth by activating beta-catenin/TCF pathway. 16007168 2005
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 AlteredExpression disease BEFREE In this retrospective study, the expression of EB1 protein was evaluated in 259 OSCCs, 41 dysplasia, 166 hyperplasia and 126 normal tissues using immunohistochemistry and correlated with clinical-pathological parameters and prognosis of OSCC patients over a follow-up period of up to 91months. 27208742 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE High DIAPH1, EB1, KATNA1 and KIF14 protein levels were associated with increased overall survival (OAS) of ovarian cancer patients, while high DIAPH1 and EB1 protein levels were also associated with low differentiation of respective tumors (G2/3). 30094535 2018
CUI: C0023418
Disease: leukemia
leukemia 		0.010 AlteredExpression disease LHGDN The effects of siRNA-mediated inhibition of E2A-PBX1 on EB-1 and Wnt16b expression in the 697 pre-B leukemia cell line. 16769578 2006
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: 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