Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Central corneal thickness
|
phenotype |
|
Clinical Attribute
|
35
|
61
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Lenticonus
|
disease |
|
Congenital Abnormality
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Anterior lenticonus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Tonometry
|
phenotype |
|
Diagnostic Procedure
|
206
|
573
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2018 |
Corneal Topography
|
phenotype |
|
Diagnostic Procedure
|
39
|
98
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.300 |
strong |
|
0 |
|
|
|
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
314
|
0.700 |
strong |
0.982 |
57 |
2
|
1986 |
2020 |
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
4
|
143
|
0.800 |
None |
1.000 |
35 |
81
|
1994 |
2017 |
Thin basement membrane disease
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
12
|
9
|
0.600 |
strong |
1.000 |
24 |
4
|
2001 |
2018 |
Alport Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
2
|
0.800 |
None |
1.000 |
24 |
|
1994 |
2017 |
Hematuria, Benign Familial
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
11
|
22
|
0.800 |
None |
1.000 |
15 |
11
|
1996 |
2019 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.100 |
None |
0.857 |
14 |
2
|
1995 |
2019 |
Alport Syndrome, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
8
|
0.600 |
strong |
1.000 |
14 |
1
|
1994 |
2019 |
Hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
235
|
31
|
0.200 |
None |
0.917 |
12 |
2
|
1995 |
2019 |
Hereditary nephritis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
9
|
1
|
0.390 |
None |
1.000 |
10 |
|
1989 |
2018 |
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
281
|
50
|
0.090 |
None |
0.889 |
9 |
1
|
2008 |
2019 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.080 |
None |
0.875 |
8 |
1
|
2002 |
2019 |
Andersen Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
38
|
0.070 |
None |
1.000 |
7 |
1
|
2003 |
2016 |
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
3
|
43
|
0.600 |
None |
1.000 |
7 |
24
|
1997 |
2019 |
ARTERIAL TORTUOSITY SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
37
|
23
|
0.060 |
None |
1.000 |
6 |
1
|
2003 |
2016 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.160 |
None |
0.833 |
6 |
1
|
2002 |
2019 |
Alport syndrome, recessive type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
3
|
|
0.500 |
None |
1.000 |
6 |
|
1996 |
2014 |
Glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
391
|
7
|
0.340 |
None |
1.000 |
5 |
|
1995 |
2005 |