RSPO1, R-spondin 1, 284654

N. diseases: 81; N. variants: 3
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3149931
Disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL 		disease Neoplastic Process 1 0.500 strong 1.000 2 2006 2011
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.420 strong 1.000 2 2017 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.320 None 1.000 2 2015 2019
CUI: C2674504
Disease: Palmoplantar Hyperkeratosis And True Hermaphroditism
Palmoplantar Hyperkeratosis And True Hermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2006 2006
CUI: C3502495
Disease: Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 2 0.300 None 0
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.110 None 1.000 2 1 2017 2019
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.110 None 1.000 1 1 2015 2015
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.110 None 1.000 1 2006 2006
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 27 0.110 None 1.000 1 2008 2008
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 1 2018 2018
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		disease Neoplasms Neoplastic Process 143 65 0.100 None 1.000 1 1 2017 2017
CUI: C0429494
Disease: Ocular axial length
Ocular axial length 		phenotype Clinical Attribute 4 11 0.100 None 1.000 1 1 2013 2013
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		phenotype Skin and Connective Tissue Diseases Finding 60 5 0.100 None 0
CUI: C0150988
Disease: Sclerodactyly
Sclerodactyly 		disease Skin and Connective Tissue Diseases Disease or Syndrome 8 1 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 63 2 0.100 None 0
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.100 None 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C3670629
Disease: Orthokeratotic hyperkeratosis
Orthokeratotic hyperkeratosis 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.100 None 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		disease Skin and Connective Tissue Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C4551490
Disease: Ovotestis
Ovotestis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 0.100 None 0
CUI: C1274743
Disease: Hyperhidrosis Palmaris Et Plantaris
Hyperhidrosis Palmaris Et Plantaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 10 0.100 None 0