genetic loci

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Symptoms:

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	Diseases	Rating	Bibliogr.
1	Chromosome Deletion	100	+ +
2	Translocation, Genetic	76	+ +
3	Intellectual Disability	66	+ +
4	Syndrome	65	+ +
5	Genetic Predisposition to Disease	62	+ +
6	Chromosome Aberrations	60	+ +
7	Abnormalities, Multiple	55	+ +
8	Chromosome Disorders	48	+ +
9	Muscular Dystrophies	47	+ +
10	Sex Chromosome Aberrations	44	+ +
11	Dystonia Musculorum Deformans	32	+ +
12	Retinitis Pigmentosa	29	+ +
13	Beckwith-Wiedemann Syndrome	29	+ +
14	Microcephaly	29	+ +
15	Spinocerebellar Degenerations	28	+ +
16	Diseases in Twins	28	+ +
17	Chromosome Breakage	26	+ +
18	Ring Chromosomes	26	+ +
19	DiGeorge Syndrome	26	+ +
20	Angelman Syndrome	25	+ +
21	Growth Disorders	25	+ +
22	Retinoblastoma	24	+ +
23	Spinocerebellar Ataxias	24	+ +
24	Chromosome Inversion	24	+ +
25	Facies	24	+ +
26	Developmental Disabilities	23	+ +
27	Uniparental Disomy	23	+ +
28	Trisomy	23	+ +
29	Williams Syndrome	23	+ +
30	Choroideremia	23	+ +
31	Huntington Disease	22	+ +
32	Craniofacial Abnormalities	22	+ +
33	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	22	+ +
34	Muscle Hypotonia	21	+ +
35	Thalassemia	21	+ +
36	Fragile X Syndrome	21	+ +
37	Aneuploidy	20	+ +
38	Hand Deformities, Congenital	20	+ +
39	Parkinsonian Disorders	20	+ +
40	Dementia	20	+ +
41	Cleft Palate	20	+ +
42	Polydactyly	19	+ +
43	Hearing Loss	19	+ +
44	Disorders of Sex Development	19	+ +
45	Disease Susceptibility	19	+ +
46	Genetic Diseases, X-Linked	19	+ +
47	Foot Deformities, Congenital	19	+ +
48	Cataract	18	+ +
49	Charcot-Marie-Tooth Disease	18	+ +
50	Reflex, Babinski	18	+ +
51	Deafness	18	+ +
52	Wiskott-Aldrich Syndrome	17	+ +
53	Autistic Disorder	17	+ +
54	Myotonic Dystrophy	17	+ +
55	Machado-Joseph Disease	17	+ +
56	Eye Diseases, Hereditary	17	+ +
57	Gonadoblastoma	17	+ +
58	Skin Abnormalities	16	+ +
59	Microphthalmos	16	+ +
60	Lewy Body Disease	16	+ +
61	Psychomotor Disorders	16	+ +
62	Parkinson Disease	16	+ +
63	Aniridia	16	+ +
64	Alzheimer Disease	16	+ +
65	Eye Abnormalities	15	+ +
66	Hypopigmentation	15	+ +
67	Hereditary Sensory and Motor Neuropathy	15	+ +
68	Monosomy	15	+ +
69	Leukemia-Lymphoma, Adult T-Cell	15	+ +
70	Albinism, Oculocutaneous	15	+ +
71	Nails, Malformed	15	+ +
72	Holoprosencephaly	15	+ +
73	Cerebral Amyloid Angiopathy, Familial	15	+ +
74	Hypogonadism	15	+ +
75	Silver-Russell Syndrome	15	+ +
76	Turner Syndrome	15	+ +
77	Dwarfism	15	+ +
78	Craniomandibular Disorders	15	+ +
79	Epilepsy, Benign Neonatal	15	+ +
80	Language Development Disorders	14	+ +
81	Pigmentation Disorders	14	+ +
82	Craniosynostoses	14	+ +
83	Limb Deformities, Congenital	14	+ +
84	Gonadal Dysgenesis	14	+ +
85	Hirschsprung Disease	14	+ +
86	Kallmann Syndrome	14	+ +
87	Color Vision Defects	14	+ +
88	Failure to Thrive	14	+ +
89	Hearing Loss, Sensorineural	14	+ +
90	Seizures, Febrile	13	+ +
91	Cerebellar Ataxia	13	+ +
92	Chromosome Fragility	13	+ +
93	WAGR Syndrome	13	+ +
94	Nervous System Malformations	13	+ +
95	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	13	+ +
96	Polycystic Kidney, Autosomal Dominant	13	+ +
97	Wilms Tumor	13	+ +
98	Disease Progression	13	+ +
99	Chondrodysplasia Punctata	13	+ +
100	Hand Deformities	13	+ +
101	Achondroplasia	13	+ +
102	Precursor Cell Lymphoblastic Leukemia-Lymphoma	13	+ +
103	Neuromuscular Diseases	12	+ +
104	Neurofibromatosis 2	12	+ +
105	Atrophy	12	+ +
106	Waardenburg Syndrome	12	+ +
107	Epilepsy	12	+ +
108	Speech Disorders	12	+ +
109	Oligospermia	12	+ +
110	Disease Models, Animal	12	+ +
111	Nondisjunction, Genetic	12	+ +
112	Gonadal Dysgenesis, 46,XY	12	+ +
113	Genomic Instability	11	+ +
114	Nerve Degeneration	11	+ +
115	Sex Chromosome Disorders	11	+ +
116	Ichthyosis	11	+ +
117	Multiple Endocrine Neoplasia Type 1	11	+ +
118	Ataxia Telangiectasia	11	+ +
119	Lymphoma, Follicular	11	+ +
120	Muscular Dystrophy, Duchenne	11	+ +
121	Agenesis of Corpus Callosum	11	+ +
122	Microsatellite Instability	11	+ +
123	Anomia	11	+ +
124	Immunologic Deficiency Syndromes	11	+ +
125	Amyotrophic Lateral Sclerosis	11	+ +
126	Muscular Diseases	11	+ +
127	Apraxias	11	+ +
128	Osteochondrodysplasias	11	+ +
129	Albinism	11	+ +
130	Malignant Hyperthermia	11	+ +
131	Leukemia, Lymphocytic, Chronic, B-Cell	11	+ +
132	Ectodermal Dysplasia	10	+ +
133	Primary Ovarian Insufficiency	10	+ +
134	Mental Retardation, X-Linked	10	+ +
135	Chorea	10	+ +
136	Menkes Kinky Hair Syndrome	10	+ +
137	Oculocerebrorenal Syndrome	10	+ +
138	Hypospadias	10	+ +
139	Ovotesticular Disorders of Sex Development	10	+ +
140	Cleft Lip	10	+ +
141	Nail-Patella Syndrome	10	+ +
142	Genetic Diseases, Inborn	10	+ +
143	Adrenal Insufficiency	10	+ +
144	Adenomatous Polyposis Coli	10	+ +
145	Bloom Syndrome	10	+ +
146	Lymphoma, Mantle-Cell	10	+ +
147	Optic Atrophy, Autosomal Dominant	10	+ +
148	Respiration Disorders	9	+ +
149	Neurofibromatosis 1	9	+ +
150	Epilepsy, Generalized	9	+ +
151	Agammaglobulinemia	9	+ +
152	Abnormal Karyotype	9	+ +
153	beta-Thalassemia	9	+ +
154	Dystonia	9	+ +
155	Gait Ataxia	9	+ +
156	Syndactyly	9	+ +
157	Cystic Fibrosis	9	+ +
158	Down Syndrome	9	+ +
159	Noonan Syndrome	9	+ +
160	Mucopolysaccharidosis II	9	+ +
161	Burkitt Lymphoma	9	+ +
162	Heart Defects, Congenital	9	+ +
163	Coloboma	9	+ +
164	Skin Diseases, Genetic	9	+ +
165	Pseudohypoparathyroidism	9	+ +
166	Frontotemporal Lobar Degeneration	9	+ +
167	Seizures	9	+ +
168	Ataxia	9	+ +
169	Retinal Degeneration	9	+ +
170	Asperger Syndrome	9	+ +
171	Cardiomyopathy, Restrictive	9	+ +
172	Birth Weight	9	+ +
173	Galactosemias	9	+ +
174	Leukemia, T-Cell	8	+ +
175	Leukemia, Myeloid	8	+ +
176	Scotoma	8	+ +
177	Granulomatous Disease, Chronic	8	+ +
178	Muscular Dystrophy, Facioscapulohumeral	8	+ +
179	Lymphoma, B-Cell	8	+ +
180	Severe Combined Immunodeficiency	8	+ +
181	Vitreoretinopathy, Proliferative	8	+ +
182	Crigler-Najjar Syndrome	8	+ +
183	Leukemia, Myeloid, Acute	8	+ +
184	Myopathies, Nemaline	8	+ +
185	Neoplastic Syndromes, Hereditary	8	+ +
186	Focal Dermal Hypoplasia	8	+ +
187	Acrocephalosyndactylia	8	+ +
188	Eye Neoplasms	8	+ +
189	Neoplasms, Multiple Primary	8	+ +
190	Spinal Muscular Atrophies of Childhood	8	+ +
191	Polycystic Kidney, Autosomal Recessive	8	+ +
192	Aphasia	8	+ +
193	Multiple System Atrophy	8	+ +
194	Rett Syndrome	8	+ +
195	Retinal Neoplasms	8	+ +
196	Blindness	8	+ +
197	Micrognathism	8	+ +
198	alpha-Thalassemia	8	+ +
199	Graft vs Host Disease	8	+ +
200	Fetal Diseases	8	+ +
201	Contracture	8	+ +
202	Dandy-Walker Syndrome	8	+ +
203	Leukemia, Lymphoid	8	+ +
204	Hemoglobinopathies	8	+ +
205	Muscular Atrophy, Spinal	7	+ +
206	Diffuse Cerebral Sclerosis of Schilder	7	+ +
207	Friedreich Ataxia	7	+ +
208	Muscle Spasticity	7	+ +
209	Ellis-Van Creveld Syndrome	7	+ +
210	Albinism, Ocular	7	+ +
211	Fibromatosis, Gingival	7	+ +
212	Plaque, Amyloid	7	+ +
213	Congenital Abnormalities	7	+ +
214	Mental Disorders	7	+ +
215	Memory Disorders	7	+ +
216	Chromosome Duplication	7	+ +
217	Language Disorders	7	+ +
218	Learning Disorders	7	+ +
219	Hypotrichosis	7	+ +
220	Leukemia, Prolymphocytic	7	+ +
221	Myeloproliferative Disorders	7	+ +
222	Metabolic Diseases	7	+ +
223	Exostoses, Multiple Hereditary	7	+ +
224	Lymphoma, Non-Hodgkin	7	+ +
225	Isochromosomes	7	+ +
226	Pierre Robin Syndrome	7	+ +
227	Epilepsies, Myoclonic	7	+ +
228	Hypertelorism	7	+ +
229	Bone Diseases, Developmental	7	+ +
230	Schizophrenia	7	+ +
231	Blepharoptosis	7	+ +
232	Supranuclear Palsy, Progressive	7	+ +
233	Macular Degeneration	7	+ +
234	Nephritis, Hereditary	7	+ +
235	Hemophilia A	7	+ +
236	Blepharophimosis	7	+ +
237	Ectromelia	7	+ +
238	Porokeratosis	7	+ +
239	Anus, Imperforate	6	+ +
240	Leukemia, B-Cell	6	+ +
241	Muscular Atrophy	6	+ +
242	Osteopetrosis	6	+ +
243	Skin Neoplasms	6	+ +
244	Cafe-au-Lait Spots	6	+ +
245	Cell Transformation, Neoplastic	6	+ +
246	Muscle Weakness	6	+ +
247	Cell Transformation, Viral	6	+ +
248	Anemia, Hemolytic, Congenital	6	+ +
249	Ornithine Carbamoyltransferase Deficiency Disease	6	+ +
250	Gliosis	6	+ +
251	Obesity	6	+ +
252	von Hippel-Lindau Disease	6	+ +
253	Tuberous Sclerosis	6	+ +
254	Anophthalmos	6	+ +
255	Melanoma	6	+ +
256	Marfan Syndrome	6	+ +
257	Alopecia	6	+ +
258	Adenoma	6	+ +
259	Spasms, Infantile	6	+ +
260	Oligodendroglioma	6	+ +
261	Corneal Dystrophies, Hereditary	6	+ +
262	Diabetes Mellitus	6	+ +
263	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	6	+ +
264	Brain Diseases	6	+ +
265	Fetal Growth Retardation	6	+ +
266	Endocrine Gland Neoplasms	6	+ +
267	Infertility, Male	6	+ +
268	Brain Neoplasms	6	+ +
269	Hamartoma Syndrome, Multiple	6	+ +
270	Retinal Diseases	6	+ +
271	Leukemia, Monocytic, Acute	6	+ +
272	Colorectal Neoplasms, Hereditary Nonpolyposis	6	+ +
273	Urinary Incontinence	6	+ +
274	Klinefelter Syndrome	6	+ +
275	Lymphocytosis	6	+ +
276	Hydatidiform Mole	6	+ +
277	Polycystic Kidney Diseases	6	+ +
278	Recurrence	6	+ +
279	Hemochromatosis	5	+ +
280	Demyelinating Diseases	5	+ +
281	Infant, Newborn, Diseases	5	+ +
282	Myelodysplastic Syndromes	5	+ +
283	Leukemia, Myelomonocytic, Acute	5	+ +
284	Neuronal Ceroid-Lipofuscinoses	5	+ +
285	Cardiomyopathy, Hypertrophic	5	+ +
286	Ocular Motility Disorders	5	+ +
287	Hypoparathyroidism	5	+ +
288	Tooth Abnormalities	5	+ +
289	Leukemia	5	+ +
290	Myoclonus	5	+ +
291	Neuroblastoma	5	+ +
292	Abdominal Neoplasms	5	+ +
293	Anxiety Disorders	5	+ +
294	Neoplasms, Second Primary	5	+ +
295	Osteogenesis Imperfecta	5	+ +
296	Philadelphia Chromosome	5	+ +
297	Hemophilia B	5	+ +
298	Ovarian Neoplasms	5	+ +
299	Kidney Neoplasms	5	+ +
300	Cerebral Infarction	5	+ +
301	Adrenal Cortex Neoplasms	5	+ +
302	Metabolism, Inborn Errors	5	+ +
303	Meningioma	5	+ +
304	Tourette Syndrome	5	+ +
305	Cognition Disorders	5	+ +
306	Cardiomyopathy, Dilated	5	+ +
307	Diabetes Mellitus, Type 1	5	+ +
308	Paraplegia	5	+ +
309	Autonomic Nervous System Diseases	5	+ +
310	Basal Ganglia Diseases	5	+ +
311	Fetal Death	5	+ +
312	Amino Acid Metabolism, Inborn Errors	5	+ +
313	Nervous System Diseases	5	+ +
314	Acromegaly	5	+ +
315	Meningeal Neoplasms	4	+ +
316	Breast Neoplasms	4	+ +
317	Hamartoma	4	+ +
318	Hernia, Diaphragmatic	4	+ +
319	Eye Diseases	4	+ +
320	Hypertrophy	4	+ +
321	Long QT Syndrome	4	+ +
322	Adrenal Hyperplasia, Congenital	4	+ +
323	Nephritis, Interstitial	4	+ +
324	Pain, Intractable	4	+ +
325	Bipolar Disorder	4	+ +
326	Colonic Neoplasms	4	+ +
327	Blast Crisis	4	+ +
328	Lymphoproliferative Disorders	4	+ +
329	Diabetes Mellitus, Type 2	4	+ +
330	Anemia	4	+ +
331	Stomach Neoplasms	4	+ +
332	Lymphoma, Large B-Cell, Diffuse	3	+ +
333	Carcinoma	3	+ +
334	Uterine Neoplasms	3	+ +
335	Kidney Diseases	3	+ +
336	Hydrocephalus	3	+ +
337	Lymphoma	3	+ +
338	Adenocarcinoma	3	+ +
339	Autoimmune Diseases	3	+ +
340	Carcinoma, Squamous Cell	3	+ +
341	Chronic Disease	3	+ +
342	Liver Neoplasms	3	+ +
343	Kidney Failure, Chronic	3	+ +
344	Acute Disease	2	+ +
345	Neoplasm Recurrence, Local	2	+ +
346	Lung Neoplasms	2	+ +
347	Postoperative Complications	1	+ +

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