CTSD, cathepsin D, 1509

N. diseases: 242; N. variants: 13
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912789
rs121912789 		1.000 0.120 11 1757343 missense variant A/T snv 1.4E-05
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 3 2006 2012
dbSNP: rs121912790
rs121912790 		1.000 0.120 11 1753593 missense variant C/G snv
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 3 2006 2012
dbSNP: rs1057519591
rs1057519591 		1.000 0.120 11 1757340 inframe deletion AGA/- delins
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs55861089
rs55861089 		11 1762527 intron variant A/G snv 9.1E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs730882208
rs730882208 		11 1753572 protein altering variant -/TGAAGACGTCGCCCA delins
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.700 0
dbSNP: rs786205105
rs786205105 		1.000 0.120 11 1754968 stop gained -/T delins
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045137
rs797045137 		1.000 0.120 11 1758994 missense variant C/A snv
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045138
rs797045138 		1.000 0.120 11 1753546 missense variant C/T snv 4.0E-06
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs17571
rs17571 		0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.080 1.000 8 2003 2018
dbSNP: rs1366541089
rs1366541089 		1.000 0.080 11 1754930 missense variant G/A snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.040 0.500 4 2004 2015
dbSNP: rs1049074086
rs1049074086 		0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 1.000 2 2007 2012
dbSNP: rs1049074086
rs1049074086 		0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1049074086
rs1049074086 		0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1049074086
rs1049074086 		0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06
CUI: C0677898
Disease: invasive cancer
invasive cancer 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1049074086
rs1049074086 		0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1049074086
rs1049074086 		0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1049074086
rs1049074086 		0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1049074086
rs1049074086 		0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1049074086
rs1049074086 		0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1369330655
rs1369330655 		0.925 0.080 11 1761421 missense variant A/G snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs1369330655
rs1369330655 		0.925 0.080 11 1761421 missense variant A/G snv 7.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2001 2001
dbSNP: rs17571
rs17571 		0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs17571
rs17571 		0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17571
rs17571 		0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs17571
rs17571 		0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2001 2001