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DiseasesRatingBibliogr.Expand
1beta-Thalassemia100+ 
2Genetic Predisposition to Disease94+ 
3alpha-Thalassemia87+ 
4Hemoglobinopathies78+ 
5Thalassemia76+ 
6Microsatellite Instability56+ 
7Coagulation Protein Disorders51+ 
8Iron Overload48+ 
9Multiple Endocrine Neoplasia Type 142+ 
10Afibrinogenemia40+ 
11Thrombophilia39+ 
12Polycythemia39+ 
13Oligodendroglioma38+ 
14Chromosome Deletion37+ 
15Hemochromatosis37+ 
16Menopause, Premature36+ 
17Hyperlipoproteinemia Type I34+ 
18delta-Thalassemia33+ 
19Amino Acid Metabolism, Inborn Errors32+ 
20Bernard-Soulier Syndrome31+ 
21Achondroplasia30+ 
22Galactosemias29+ 
23Hamartoma Syndrome, Multiple29+ 
24Amaurosis Fugax28+ 
25Homocystinuria28+ 
26Neurofibromatosis 127+ 
27Kuru26+ 
28Osteochondrodysplasias25+ 
29Metabolism, Inborn Errors25+ 
30Neoplasms, Multiple Primary24+ 
31Epidermolysis Bullosa, Junctional24+ 
32Neoplastic Syndromes, Hereditary23+ 
33Syndrome23+ 
34Uniparental Disomy22+ 
35Chromosome Aberrations22+ 
36Urolithiasis22+ 
37Li-Fraumeni Syndrome22+ 
38Thrombasthenia22+ 
39Factor XI Deficiency22+ 
40Steroid Metabolism, Inborn Errors22+ 
41Neoplasms, Second Primary22+ 
42Tuberous Sclerosis21+ 
43Nephrolithiasis21+ 
44Tay-Sachs Disease20+ 
45Beckwith-Wiedemann Syndrome20+ 
46Genetic Diseases, Inborn19+ 
47Protein S Deficiency19+ 
48Neurodegenerative Diseases19+ 
49Familial Mediterranean Fever19+ 
50Hyperhomocysteinemia19+ 
51Renal Tubular Transport, Inborn Errors19+ 
52Epidermolysis Bullosa Dystrophica18+ 
53Disease Progression18+ 
54Breast Neoplasms18+ 
55Hypoprothrombinemias18+ 
56Wilms Tumor18+ 
57Hemorrhagic Disorders18+ 
58Colorectal Neoplasms, Hereditary Nonpolyposis17+ 
59Friedreich Ataxia17+ 
60Phenylketonurias17+ 
61Deficiency Diseases17+ 
62Pseudoxanthoma Elasticum17+ 
63Recurrence17+ 
64Adrenocortical Carcinoma17+ 
65Ataxia Telangiectasia17+ 
66Cystic Fibrosis17+ 
67Activated Protein C Resistance17+ 
68Amyloidosis, Familial17+ 
69Gaucher Disease17+ 
70Dwarfism17+ 
71Epidermolysis Bullosa17+ 
72alpha 1-Antitrypsin Deficiency16+ 
73von Willebrand Diseases16+ 
74Skin Neoplasms16+ 
75Peutz-Jeghers Syndrome16+ 
76Adrenal Hyperplasia, Congenital16+ 
77Anemia, Hemolytic, Congenital16+ 
78Brain Neoplasms16+ 
79Retinoblastoma15+ 
80Diseases in Twins15+ 
81Retinal Neoplasms15+ 
82Ovarian Neoplasms15+ 
83Carcinoma in Situ15+ 
84Creutzfeldt-Jakob Syndrome15+ 
85Carcinoma, Ductal, Breast14+ 
86Congenital Disorders of Glycosylation14+ 
87Abnormalities, Multiple14+ 
88Cell Transformation, Neoplastic14+ 
89Venous Thrombosis14+ 
90Melanoma14+ 
91Neurofibromatosis 214+ 
92Anemia, Sickle Cell13+ 
93Abdominal Neoplasms13+ 
94Adenoma13+ 
95Intellectual Disability13+ 
96Thrombophlebitis12+ 
97Kidney Neoplasms12+ 
98Mitochondrial Diseases12+ 
99Anemia, Hemolytic12+ 
100von Hippel-Lindau Disease12+ 
101Monosomy12+ 
102Hyperparathyroidism12+ 
103Astrocytoma11+ 
104Carcinoma, Neuroendocrine11+ 
105Meningioma11+ 
106Growth Disorders11+ 
107Pancreatic Neoplasms11+ 
108Adrenal Cortex Neoplasms11+ 
109Chromosome Disorders11+ 
110Translocation, Genetic11+ 
111Lung Neoplasms11+ 
112Thrombosis10+ 
113Glioblastoma10+ 
114Adenomatous Polyposis Coli10+ 
115Neoplasm Recurrence, Local10+ 
116Protein C Deficiency9+ 
117Hemorrhage9+ 
118Carcinoma, Basal Cell9+ 
119Adenocarcinoma9+ 
120Liver Neoplasms8+ 
121Meningeal Neoplasms8+ 
122Cardiomyopathies8+ 
123Bone Neoplasms8+ 
124Pulmonary Embolism8+ 
125Neoplasm Metastasis8+ 
126Pituitary Neoplasms7+ 
127Carcinoma, Renal Cell7+ 
128Carcinoma, Squamous Cell7+ 

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