Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE No evidence was obtained for gene dosage imbalances in MIC2, PCDHXY and SYBL1 in patients with schizophrenia. 12782970 2003
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		0.300 ChromosomalRearrangement disease ORPHANET Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action. 24880616 2014
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.300 Biomarker disease CTD_human Comprehensive analysis of DNA methylation in head and neck squamous cell carcinoma indicates differences by survival and clinicopathologic characteristics. 23358896 2013
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.300 Biomarker disease CTD_human Comprehensive analysis of DNA methylation in head and neck squamous cell carcinoma indicates differences by survival and clinicopathologic characteristics. 23358896 2013
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.100 Biomarker phenotype HPO
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.100 Biomarker disease HPO
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		0.100 Biomarker disease HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.100 Biomarker phenotype HPO
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 Biomarker disease HPO
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.100 Biomarker group HPO
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.100 Biomarker disease HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		0.100 Biomarker phenotype HPO
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		0.100 Biomarker disease HPO
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.100 Biomarker disease HPO
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		0.100 Biomarker phenotype HPO
CUI: C0241355
Disease: Small testicle
Small testicle 		0.100 Biomarker phenotype HPO
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.100 Biomarker disease HPO
CUI: C0266371
Disease: Streak ovary
Streak ovary 		0.100 Biomarker disease HPO
CUI: C0266427
Disease: Testicular regression syndrome
Testicular regression syndrome 		0.100 Biomarker disease HPO
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		0.100 Biomarker disease HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.100 Biomarker disease HPO