CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13
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: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.100 None 0
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.010 None 1.000 1 1988 1988
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 1990 1990
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 43 1 0.010 None 1.000 1 1993 1993
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 61 3 0.010 None 1.000 1 1993 1993
CUI: C0268393
Disease: Familial Cerebral Amyloid Angiopathy
Familial Cerebral Amyloid Angiopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 0.010 None 1.000 1 1994 1994
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		group Stomatognathic Diseases Disease or Syndrome 326 22 0.010 None 1.000 1 1995 1995
CUI: C0008354
Disease: Cholera
Cholera 		disease Infections Disease or Syndrome 209 1 0.010 None 1.000 1 1995 1995
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 297 33 0.010 None 1.000 1 1995 1995
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.010 None 1.000 1 1995 1995
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 19 4 0.020 None 1.000 2 1994 1996
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 342 108 0.010 None 1.000 1 1996 1996
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.020 None 1.000 2 1990 1998
CUI: C4284040
Disease: FIGO Stage III Ovarian Cancer
FIGO Stage III Ovarian Cancer 		disease Neoplastic Process 3 0.010 None 1.000 1 1999 1999
CUI: C2986682
Disease: Locally Recurrent Malignant Neoplasm
Locally Recurrent Malignant Neoplasm 		disease Neoplastic Process 68 1 0.010 None 1.000 1 1999 1999
CUI: C0278687
Disease: Ovarian cancer stage III
Ovarian cancer stage III 		disease Neoplastic Process 9 0.010 None 1.000 1 1999 1999
CUI: C1153706
Disease: Endometrial adenocarcinoma
Endometrial adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 212 5 0.010 None 1.000 1 1999 1999
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 1999 1999
CUI: C0920235
Disease: Psoriatic plaque
Psoriatic plaque 		disease Disease or Syndrome 12 0.010 None 1.000 1 2000 2000
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 2000 2000
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 104 7 0.020 None 1.000 2 1995 2001
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.020 None 1.000 2 1999 2002
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.300 None 1.000 1 2002 2002