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Search results for Pyridoxal Phosphate

814 hits were found for Pyridoxal Phosphate

# Family MCID Name MIFTS Score
1
PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 50 93.286
2
HYP025 Hyperphosphatemia 47 17.926
3
c CHR684 Chronic Kidney Disease 73 15.527
4
P KDN018 Kidney Disease 71 14.381
5
RCK004 Rickets 64 13.791
6
HYP017 Hypophosphatemia 49 13.365
7
P HYP069 Hyperparathyroidism 62 11.858
8
END086 End Stage Renal Disease 54 11.574
9
DFC004 Deficiency Anemia 74 11.158
10
HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60 11.116
11
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 10.145
12
PRT037 Pertussis 49 9.989
13
NTR005 Nutritional Deficiency Disease 60 9.852
14
PYR009 Pyridoxine Deficiency Anemia 35 9.017
15
c SCN007 Secondary Hyperparathyroidism 50 8.747
16
P LKM002 Leukemia 65 8.657
17
MLR004 Malaria 77 8.573
18
RPD005 Rapidly Involuting Congenital Hemangioma 48 8.532
19
OST011 Osteomalacia 52 8.481
20
P BND020 Bone Disease 60 8.362
21
P LYM118 Lymphoma 66 7.926
22
P ACN011 Acne 55 7.912
23
DNT012 Dental Caries 53 7.675
24
BNR002 Bone Resorption Disease 47 7.663
25
P NRB001 Neuroblastoma 66 7.642
26
P SZR006 Seizure Disorder 69 7.624
27
AGN016 Aging 53 7.513
28
P ENC018 Encephalopathy 62 7.481
29
HLX001 Helix Syndrome 47 7.475
30
P DBT009 Diabetes Mellitus 67 7.291
31
IRN002 Iron Metabolism Disease 56 7.281
32
P THL005 Thalassemia 56 7.108
33
NPH009 Nephrolithiasis 54 7.090
34
c TYP009 Type 2 Diabetes Mellitus 91 7.008
35
ISC004 Ischemia 61 6.854
36
LYM019 Lymphosarcoma 46 6.832
37
LPP008 Lipoprotein Quantitative Trait Locus 65 6.623
38
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 6.609
39
48X005 48,xyyy 39 6.483
40
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 6.278
41
HMS001 Hemosiderosis 48 6.228
42
P RRH023 Rare Hereditary Hemochromatosis 52 6.158
43
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 6.154
44
ATH013 Atherosclerosis Susceptibility 63 6.130
45
P NRP001 Neuropathy 59 6.095
46
PYR016 Pyridoxine Deficiency 29 6.019
47
P HYP035 Hypophosphatasia 61 6.018
48
MYL009 Myelodysplastic Syndrome 67 5.854
49
P PRS040 Prostate Cancer 95 5.827
50
c LKM061 Leukemia, Acute Myeloid 83 5.775
51
P EPL164 Epilepsy 70 5.767
52
GLM045 Glioma 62 5.753
53
P CTR002 Cataract 59 5.744
54
HYP005 Hypokalemia 55 5.743
55
HMN044 Human Immunodeficiency Virus Type 1 76 5.742
56
GLL048 Glial Tumor 51 5.728
57
P PRP019 Peripheral Nervous System Disease 57 5.717
58
NPH091 Nephrolithiasis, Calcium Oxalate 61 5.666
59
P MYC084 Mycobacterium Tuberculosis 1 68 5.612
60
DWN001 Down Syndrome 70 5.607
61
HRW001 Hair Whorl 35 5.607
62
P BRS047 Breast Cancer 97 5.515
63
P SCH015 Schizophrenia 74 5.500
64
OST159 Osteogenic Sarcoma 66 5.492
65
P PRD008 Periodontitis 63 5.490
66
ART140 Arteries, Anomalies of 52 5.443
67
NPH003 Nephrocalcinosis 49 5.442
68
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 5.430
69
SCK003 Sickle Cell Anemia 74 5.427
70
EPL131 Epilepsy, Pyridoxine-Dependent 46 5.406
71
P SCK005 Sickle Cell Disease 56 5.386
72
P MYL006 Myeloid Leukemia 60 5.358
73
P TRN020 Turner Syndrome 67 5.300
74
c HYP595 Hypertension, Essential 84 5.283
75
c ACT071 Acute Kidney Failure 60 5.242
76
P LKM062 Leukemia, Acute Lymphoblastic 69 5.238
77
ALL029 Allergic Disease 61 5.221
78
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 5.215
79
ATS010 Autosomal Recessive Disease 42 5.201
80
NNL005 Non-Alcoholic Fatty Liver Disease 63 5.194
81
P HPT021 Hepatitis 68 5.141
82
FTT001 Fatty Liver Disease 61 5.135
83
P VSC007 Vascular Disease 62 5.103
84
URL001 Urolithiasis 45 5.085
85
HYP266 Hypoxia 56 5.084
86
LYM027 Lymphopenia 56 5.074
87
P BCL017 B-Cell Lymphoma 57 5.060
88
c INH020 Inherited Metabolic Disorder 47 5.045
89
ANX004 Anoxia 40 4.999
90
P GLY013 Glycogen Storage Disease 59 4.931
91
URM002 Uremia 47 4.903
92
STM007 Stomatitis 52 4.899
93
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 4.890
94
P NTR004 Neutropenia 62 4.871
95
P HMC002 Homocystinuria 52 4.848
96
HMC014 Homocysteinemia 52 4.848
97
KRT002 Keratomalacia 54 4.844
98
c MCR120 Microvascular Complications of Diabetes 7 47 4.837
99
PRS047 Prostatitis 57 4.803
100
HYP056 Hypoglycemia 65 4.770
101
WST001 West Syndrome 64 4.768
102
c BTT014 Beta-Thalassemia 72 4.768
103
TRD006 Tardive Dyskinesia 53 4.763
104
P GLM040 Glioma Susceptibility 1 70 4.700
105
IMM167 Immune Deficiency Disease 76 4.700
106
RNL114 Renal Cell Carcinoma, Nonpapillary 79 4.674
107
CRB039 Cerebrovascular Disease 65 4.665
108
P MYP004 Myopathy 67 4.643
109
47X002 47,xyy 47 4.581
110
BCT022 Bacterial Infectious Disease 55 4.565
111
c PRM005 Primary Hyperparathyroidism 59 4.540
112
STR067 Stroke, Ischemic 79 4.520
113
P PRM002 Primary Hyperoxaluria 65 4.518
114
HYP066 Hyperglycemia 60 4.516
115
ADL002 Adult Syndrome 69 4.501
116
c LKM063 Leukemia, Chronic Myeloid 70 4.466
117
P OVR042 Ovarian Cancer 88 4.465
118
PRT251 Proteinuria, Chronic Benign 58 4.451
119
HMP009 Haemophilus Influenzae 41 4.449
120
c MCR113 Microvascular Complications of Diabetes 3 52 4.440
121
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 4.421
122
CHL014 Cholera 62 4.420
123
OST017 Osteomyelitis 63 4.414
124
P RHM011 Rheumatoid Arthritis 81 4.388
125
c ACT073 Acute Leukemia 59 4.314
126
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 4.309
127
P LVR013 Liver Disease 68 4.301
128
P THR014 Thrombocytopenia 66 4.299
129
RHB024 Rhabdomyosarcoma 2 65 4.284
130
P NPH012 Nephrotic Syndrome 61 4.282
131
c HYP836 Hypercholesterolemia, Familial, 1 73 4.278
132
c NRP068 Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy 21 4.268
133
P ANR048 Aniridia 1 66 4.263
134
LVR012 Liver Cirrhosis 62 4.260
135
P ART022 Arthritis 70 4.255
136
c MCR133 Microvascular Complications of Diabetes 4 41 4.237
137
c MCR130 Microvascular Complications of Diabetes 6 41 4.237
138
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62 4.220
139
P HPT023 Hepatocellular Carcinoma 95 4.219
140
P PSR002 Psoriasis 63 4.212
141
c HYP794 Hyperoxaluria, Primary, Type I 63 4.210
142
PST011 Pustulosis of Palm and Sole 52 4.202
143
c BLD140 Blood Group, I System 47 4.178
144
GLB002 Glioblastoma 67 4.133
145
SKN016 Skin Disease 63 4.131
146
TTN003 Tetanus 64 4.119
147
P MSC005 Muscular Dystrophy 66 4.111
148
PRT036 Peritonitis 65 4.086
149
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 4.071
150
c HPT003 Hepatitis a 63 4.067
151
P PNC035 Pancreatic Cancer 87 4.027
152
P KDN017 Kidney Cancer 60 4.015
153
P ALC033 Alcohol Use Disorder 67 3.972
154
c HYP292 Hypophosphatasia, Infantile 56 3.928
155
P PRK039 Parkinsonism 55 3.926
156
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 3.922
157
ATM095 Autoimmune Disease 61 3.889
158
LYM040 Lymphoblastic Lymphoma 53 3.885
159
CVD001 Covid-19 59 3.874
160
MYL031 Myeloproliferative Neoplasm 66 3.860
161
P CRN300 Coronary Heart Disease 1 73 3.849
162
P KLZ004 Kala-Azar 1 41 3.848
163
LSH001 Leishmaniasis 63 3.848
164
P URN019 Urinary Tract Infection 48 3.848
165
CYT002 Cytokine Deficiency 43 3.848
166
MNT002 Mental Depression 56 3.839
167
P CLR023 Colorectal Cancer 100 3.807
168
P ADN016 Adenocarcinoma 63 3.788
169
P HRT032 Heart Disease 84 3.778
170
P HYP265 Hypotonia 42 3.775
171
MYL005 Myelofibrosis 70 3.750
172
c VRL010 Viral Hepatitis 52 3.750
173
HMG005 Hemoglobinopathy 55 3.744
174
P CNJ013 Conjunctivitis 66 3.743
175
c PRC016 Pre-Eclampsia 64 3.741
176
DPH001 Diphtheria 59 3.737
177
P PNM007 Pneumonia 64 3.732
178
P DRR001 Diarrhea 55 3.705
179
ANT039 Antisynthetase Syndrome 55 3.701
180
P LNG032 Lung Cancer 98 3.700
181
MND023 Mend Syndrome 49 3.691
182
SCH012 Schizoaffective Disorder 49 3.691
183
P ART021 Arteriosclerosis 53 3.680
184
P PRK057 Parkinson Disease, Late-Onset 79 3.664
185
c HPT001 Hepatitis C 61 3.657
186
P MLN008 Melanoma 75 3.654
187
CNG034 Congestive Heart Failure 69 3.645
188
EPL166 Epilepsy, Early-Onset, Vitamin B6-Dependent 25 3.638
189
c DNT047 Dentinogenesis Imperfecta Type 2 35 3.595
190
P HYP086 Hypothyroidism 68 3.584
191
c PRS130 Prostate Cancer, Hereditary, 8 32 3.552
192
c PRS136 Prostate Cancer, Hereditary, 6 33 3.552
193
LPD008 Lipid Metabolism Disorder 61 3.529
194
ALC007 Alcohol Dependence 65 3.512
195
RFR010 Refractory Anemia 49 3.504
196
SLP001 Sleeping Sickness 56 3.478
197
DSS032 Disease by Infectious Agent 55 3.476
198
MLG169 Malignant Astrocytoma 57 3.472
199
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 3.471
200
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 3.471
201
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 3.471
202
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 3.471
203
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 3.471
204
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 3.471
205
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 3.471
206
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 3.471
207
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 3.471
208
ULC004 Ulcerative Colitis 74 3.467
209
P SJG008 Sjogren Syndrome 60 3.428
210
ACQ007 Acquired Immunodeficiency Syndrome 58 3.402
211
P HRP006 Herpes Simplex 65 3.365
212
ACT098 Acute Erythroid Leukemia 55 3.360
213
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 3.344
214
P ADL010 Adult Respiratory Distress Syndrome 70 3.343
215
P AST005 Asthma 75 3.340
216
HGH043 High Grade Glioma 46 3.338
217
STT001 Status Epilepticus 58 3.337
218
P PLY019 Polyneuropathy 52 3.337
219
P DRM053 Dermatitis, Atopic 65 3.279
220
P ART023 Arthropathy 59 3.261
221
INS024 Insulin-Like Growth Factor I 77 3.257
222
c GLL024 Gallbladder Disease 1 53 3.226
223
c AMY091 Amyotrophic Lateral Sclerosis 1 87 3.224
224
P LTR001 Lateral Sclerosis 57 3.224
225
SKN019 Skin Melanoma 70 3.217
226
P ALZ034 Alzheimer Disease 87 3.207
227
P CRP001 Carpal Tunnel Syndrome 65 3.200
228
ALL014 Allergic Encephalomyelitis 34 3.199
229
TXC005 Toxic Shock Syndrome 61 3.197
230
c ATR087 Atrial Standstill 1 74 3.187
231
PST092 Posttransplant Acute Limbic Encephalitis 29 3.179
232
CYS001 Cystic Fibrosis 77 3.174
233
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 3.151
234
P CHR345 Chronic Pain 50 3.148
235
P MYC007 Myocardial Infarction 69 3.137
236
P MSC003 Muscular Atrophy 52 3.132
237
P RSP003 Respiratory Failure 73 3.129
238
KRT019 Keratitis, Hereditary 66 3.118
239
DFF005 Diffuse Large B-Cell Lymphoma 55 3.101
240
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 3.094
241
PSY004 Psychotic Disorder 66 3.081
242
P EYD002 Eye Disease 57 3.070
243
P GLM007 Glomerulonephritis 59 3.065
244
OCL069 Ocular Motor Apraxia 57 3.059
245
P HYP076 Hyperthyroidism 53 3.049
247
c ALP101 Alpha-Thalassemia 62 3.034
248
LNG015 Lingual-Facial-Buccal Dyskinesia 47 3.008
249
HMG002 Hemoglobinuria 50 2.996
250
DPR016 Depression 64 2.993
251
AMD002 Amed Syndrome, Digenic 36 2.954
252
c MCR115 Microvascular Complications of Diabetes 5 65 2.952
253
P LCT001 Lactic Acidosis 50 2.947
254
P MYC033 Myoclonus 46 2.928
255
GYR004 Gyrate Atrophy of Choroid and Retina 58 2.917
256
HPT004 Hepatic Coma 43 2.907
257
THY029 Thyroid Carcinoma 55 2.902
258
P BRS044 Breast Adenocarcinoma 58 2.886
259
P PRP029 Porphyria 60 2.868
260
P MLN007 Male Infertility 56 2.866
261
P PHC003 Pheochromocytoma 70 2.841
262
ADR040 Adrenal Gland Pheochromocytoma 45 2.841
263
LMY002 Leiomyoma 51 2.832
264
ADN018 Adenoma 58 2.830
265
PNG002 Pain Agnosia 51 2.826
266
PLM001 Pulmonary Tuberculosis 69 2.822
267
RBF001 Riboflavin Deficiency 49 2.798
268
PRP027 Peripheral Vascular Disease 71 2.796
269
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 2.779
270
c ACT075 Acute Myocardial Infarction 55 2.766
271
RTC005 Reticulosarcoma 47 2.755
272
PLM129 Pulmonary Disease, Chronic Obstructive 74 2.745
273
P INF037 Inflammatory Bowel Disease 53 2.736
274
INS001 Insulinoma 59 2.727
275
c BRN108 Branchiootic Syndrome 1 63 2.715
276
ALC006 Alcoholic Hepatitis 61 2.708
277
BRN004 Brain Edema 54 2.697
278
CRB004 Cerebral Artery Occlusion 45 2.687
279
VSC003 Visceral Leishmaniasis 54 2.677
280
c FNC043 Fanconi Anemia, Complementation Group E 62 2.677
281
c SML038 Small Cell Cancer of the Lung 68 2.673
282
SPN186 Spinal Cord Injury 60 2.667
283
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 2.667
284
P INF032 Infertility 60 2.665
285
END057 Endometrial Cancer 76 2.660
286
MSC157 Muscular Dystrophy, Duchenne Type 78 2.657
287
ACT011 Acute Contagious Conjunctivitis 41 2.650
288
c HPT016 Hepatitis B 62 2.641
289
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 2.635
290
MYF001 Myofibroma 42 2.624
291
c PSR017 Psoriasis 2 53 2.609
292
P HNT016 Huntington Disease 73 2.598
293
GST050 Gastrointestinal System Disease 55 2.597
294
CHL068 Cholestasis 61 2.589
295
ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 55 2.587
296
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 61 2.586
297
P LPS004 Lupus Erythematosus 61 2.572
298
c SYS001 Systemic Lupus Erythematosus 85 2.569
299
LYS002 Lysosomal Storage Disease 51 2.564
300
EWN003 Ewing Sarcoma 69 2.562
301
BRN071 Brain Injury 50 2.561
302
P END033 Endocarditis 58 2.557
303
ATX019 Ataxia with Vitamin E Deficiency 44 2.552
304
P BPL003 Bipolar Disorder 56 2.545
305
IDP073 Idiopathic Hypercalciuria 41 2.544
306
c MJR022 Major Affective Disorder 8 37 2.540
307
c MJR024 Major Affective Disorder 9 40 2.540
308
CLR030 Clear Cell Renal Cell Carcinoma 53 2.540
309
ENT004 Enthesopathy 51 2.538
310
c ACT027 Acute Pancreatitis 60 2.533
311
IRN001 Iron Deficiency Anemia 58 2.531
312
P CLC063 Celiac Disease 1 65 2.529
313
SPL018 Splenomegaly 47 2.529
314
VCC001 Vaccinia 49 2.524
315
c TYP008 Type 1 Diabetes Mellitus 77 2.523
316
c PNS012 Paine Syndrome 60 2.501
317
P ECL001 Eclampsia 52 2.490
318
P RHN004 Rhinitis 56 2.489
319
LMY014 Leiomyoma, Uterine 55 2.484
320
RYS001 Reye Syndrome 49 2.483
321
TRY001 Trypanosomiasis 50 2.481
322
c ACT134 Acute Liver Failure 57 2.458
323
P CRD246 Cardiovascular System Disease 55 2.455
324
FBR047 Fibromyalgia 57 2.453
325
CHL123 Chlamydia 58 2.441
326
c ACT068 Acute Cystitis 60 2.436
327
P PRP003 Porphyria Cutanea Tarda 66 2.428
328
P PNC044 Pancreatitis 61 2.428
329
ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65 2.419
330
HMN014 Human Immunodeficiency Virus Infectious Disease 54 2.415
331
DBT010 Diabetic Neuropathy 54 2.401
332
P BLD134 Bladder Cancer 79 2.389
333
PLM010 Pulmonary Edema 54 2.382
334
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 2.371
335
c PCH010 Pachyonychia Congenita 3 43 2.350
336
NRL016 Neural Tube Defects 80 2.348
337
CHR178 Chromosomal Triplication 33 2.330
338
HYP014 Hyperuricemia 51 2.328
339
PLC008 Placenta Disease 48 2.328
340
P GST053 Gastric Cancer 82 2.324
341
CLF027 Cleft Palate, Isolated 64 2.322
342
P CYS018 Cystitis 58 2.315
343
c EPS039 Episodic Pain Syndrome, Familial, 1 42 2.314
344
P BRB001 Beriberi 44 2.313
345
GLC003 Glucose Intolerance 53 2.294
346
GLS018 Glass Syndrome 60 2.286
347
ANX010 Anxiety 70 2.284
348
P GST044 Gastritis 55 2.279
349
P ENC004 Encephalitis 61 2.276
350
CLF001 Cleft Lip 54 2.270
351
ESP021 Esophageal Cancer 84 2.258
352
HPT019 Hepatic Encephalopathy 59 2.250
353
P PNC025 Panic Disorder 52 2.247
354
P SDR003 Sideroblastic Anemia 49 2.242
355
c PSR023 Psoriasis 1 52 2.238
356
MCL006 Macular Retinal Edema 56 2.232
357
P RHB003 Rhabdomyosarcoma 66 2.231
358
LMB062 Limb Ischemia 55 2.213
359
ANG054 Angina Pectoris 65 2.205
360
NRM005 Neuromuscular Disease 62 2.201
361
CLN015 Colon Adenocarcinoma 64 2.201
362
c PSR028 Psoriasis 7 42 2.177
363
c PSR018 Psoriasis 13 40 2.177
364
c PSR032 Psoriasis 11 47 2.177
365
PPL022 Papilloma 53 2.174
366
HYP060 Hyperinsulinism 53 2.173
367
IRR002 Irritable Bowel Syndrome 64 2.168
368
P RTN024 Retinoblastoma 72 2.152
369
P MVM001 Movement Disease 61 2.148
370
P LNG064 Lung Cancer Susceptibility 3 69 2.139
371
ANK001 Ankylosis 50 2.105
372
VSL002 Visual Epilepsy 39 2.104
373
OVR094 Ovarian Epithelial Cancer 39 2.094
374
P MCR010 Microcephaly 59 2.081
375
P NRV007 Nervous System Disease 65 2.077
376
END040 Endogenous Depression 54 2.062
377
P DDN001 Duodenal Ulcer 52 2.059
378
P MYC008 Myocarditis 59 2.057
379
P TRM003 Tremor 50 2.055
380
BCK006 Back Pain 43 2.055
381
VGN023 Vaginitis 56 2.049
382
c PST005 Posterior Uveitis 54 2.041
383
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 2.040
384
SCH014 Schistosomiasis 56 2.040
385
NRT004 Neuritis 53 2.028
386
P MJR001 Major Depressive Disorder 68 2.023
387
RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52 2.023
388
GST023 Gastric Ulcer 52 2.016
389
P TXP001 Toxoplasmosis 59 2.011
390
c DWL002 Dowling-Degos Disease 1 58 2.011
391
THR024 Thrombosis 56 2.009
392
c HYP293 Hypophosphatasia, Adult 52 1.979
393
GST045 Gastroenteritis 58 1.960
394
BRN028 Brain Cancer 73 1.951
395
PRT013 Portal Hypertension 59 1.927
396
P MDL005 Medulloblastoma 75 1.926
397
CHL065 Cholangiocarcinoma 57 1.923
398
INT079 Intrahepatic Cholangiocarcinoma 51 1.923
399
HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 50 1.917
400
P CRV039 Cervicitis 52 1.913
401
P CHN012 Chondrosarcoma 56 1.910
402
ARG004 Argyria 26 1.904
403
GLY010 Glycine Encephalopathy 57 1.900
404
P SLP005 Sleep Disorder 61 1.896
405
P SCL018 Scoliosis 57 1.896
406
P ATM019 Autoimmune Polyendocrine Syndrome 46 1.896
407
CRB037 Cerebral Palsy 66 1.890
408
c THR092 Thrombophilia Due to Thrombin Defect 74 1.883
409
PHN003 Phenylketonuria 76 1.876
410
P MCR129 Microvascular Complications of Diabetes 1 67 1.870
411
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 1.858
412
c HYP597 Hyperprolinemia, Type Ii 43 1.843
413
P HYP111 Hyperprolinemia 44 1.843
414
P PLY014 Polycystic Kidney Disease 71 1.843
416
P NJM001 Nijmegen Breakage Syndrome 75 1.823
417
NRR001 Neuroretinitis 42 1.798
418
RTN023 Retinitis 45 1.798
419
P SKN015 Skin Carcinoma 71 1.793
420
P ATS364 Autism 72 1.791
421
P EXN002 Exanthem 58 1.790
422
P DNG005 Dengue Virus 55 1.788
423
PRM020 Premenstrual Tension 39 1.787
424
CYS019 Cystathioninuria 46 1.778
425
RSC001 Rosacea 55 1.775
426
P KRT007 Keratoconus 49 1.774
427
SQM002 Squamous Cell Papilloma 45 1.768
428
P CND004 Candidiasis 57 1.750
429
c ATS007 Autism Spectrum Disorder 71 1.732
430
c MGR028 Migraine with or Without Aura 1 63 1.723
431
CHL004 Cholelithiasis 48 1.720
432
CHR008 Choroiditis 48 1.714
433
P CRB088 Cerebral Atrophy 32 1.704
434
c GLC079 Glaucoma 1, Open Angle, P 23 1.694
435
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 1.692
436
BTT017 Beta-Thalassemia Major 54 1.688
437
FLL027 Fallopian Tube Carcinoma 66 1.666
438
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 40 1.655
439
CHR073 Choreatic Disease 53 1.655
440
ANG049 Angioedema Induced by Ace Inhibitors 38 1.653
441
BBS001 Babesiosis 48 1.648
442
c HPT015 Hepatitis D 49 1.647
443
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 1.636
444
CHL067 Cholecystitis 59 1.636
445
NDD001 Nodding Syndrome 20 1.635
446
PRS063 Paresthesia 39 1.631
447
P CHN059 Chondrocalcinosis 51 1.629
448
P HDC001 Headache 56 1.620
449
P TBR001 Tuberous Sclerosis 69 1.615
450
MCP033 Mucopolysaccharidoses 44 1.613
451
MST005 Mastitis 52 1.612
452
P ERL057 Early Infantile Epileptic Encephalopathy 61 1.608
453
OBS002 Obsessive-Compulsive Disorder 67 1.605
454
P HMP007 Hemophilia 52 1.599
455
PLM033 Pulmonary Embolism 58 1.598
457
RHM001 Rheumatic Fever 59 1.597
458
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 1.594
459
c DRR009 Diarrhea 6 46 1.560
460
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 1.554
461
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 1.551
462
ATN004 Autonomic Neuropathy 42 1.547
463
P HYD006 Hydrocephalus 62 1.546
464
HYP781 Hypoascorbemia 52 1.543
465
c ATM002 Autoimmune Polyendocrine Syndrome Type 1 43 1.543
466
LNN001 Lennox-Gastaut Syndrome 61 1.543
467
OHT001 Ohtahara Syndrome 39 1.542
468
GRN017 Granulocytopenia 42 1.530
469
PRT038 Protein-Energy Malnutrition 53 1.524
470
PPT005 Peptic Ulcer Disease 58 1.515
471
P MNN013 Meningitis 65 1.513
472
KRT008 Keratopathy 46 1.511
473
P ATT013 Attention Deficit-Hyperactivity Disorder 65 1.507
474
CHR066 Chronic Fatigue Syndrome 59 1.502
475
c MCR112 Microvascular Complications of Diabetes 2 42 1.502
476
P PRS038 Personality Disorder 65 1.496
477
P INT143 Interstitial Cystitis 59 1.475
478
ART002 Arts Syndrome 66 1.471
479
c ATS347 Autosomal Dominant Polycystic Kidney Disease 64 1.461
480
MYF002 Myofascial Pain Syndrome 46 1.453
481
HMC030 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 36 1.453
482
DYS015 Dysentery 49 1.449
483
APH001 Aphthous Stomatitis 57 1.442
484
EMB004 Embryonal Carcinoma 55 1.441
485
P SHR001 Short Bowel Syndrome 53 1.440
486
NRT001 Neurotic Disorder 56 1.424
487
ART035 Arterial Calcification of Infancy 58 1.423
488
PRR001 Periarthritis 33 1.408
489
PRP083 Porphyria, Acute Intermittent 64 1.406
490
RBS001 Rabies 57 1.405
491
c CHR688 Chronic Acquired Demyelinating Polyneuropathy 16 1.403
492
P CRN037 Craniosynostosis 67 1.400
493
P SDR002 Siderosis 42 1.393
494
CTN007 Cutaneous Leishmaniasis 61 1.384
495
GNR004 Generalized Anxiety Disorder 54 1.380
496
NWB001 Newborn Respiratory Distress Syndrome 56 1.379
497
c HNT011 Huntington Disease-Like 3 33 1.377
498
P DMN002 Dementia 65 1.371
499
OCL006 Ocular Hypertension 53 1.365
500
BCT004 Bacteriuria 48 1.363
501
CLF004 Cleft Lip/palate 56 1.363
502
VLV047 Volvulus of Midgut 55 1.363
503
ERL001 Early Myoclonic Encephalopathy 62 1.361
504
CRB090 Cerebral Hypoxia 42 1.353
505
ART004 Aortic Atherosclerosis 46 1.348
506
P HYP726 Hypercalcemia, Infantile, 1 58 1.344
507
P PYL005 Pyelonephritis 56 1.340
508
DSR075 Disorder of Pyridoxine Metabolism 4 1.338
509
VTM033 Vitamin K Deficiency Bleeding 49 1.338
510
P CHR071 Charcot-Marie-Tooth Disease 64 1.326
511
RSP019 Respiratory Distress Syndrome in Premature Infants 52 1.324
512
RSP007 Respiratory Distress Syndrome, Infant 41 1.324
513
P DYS154 Dystonia 64 1.324
514
SPC030 Specific Language Disorder 25 1.324
515
AMN001 Amenorrhea 53 1.315
516
BLR001 Biliary Atresia 55 1.304
517
c PRG020 Paragangliomas 3 39 1.301
518
P HRD021 Hereditary Sensory Neuropathy 48 1.298
519
TTH006 Tooth Disease 51 1.297
520
RTN020 Retinal Vascular Disease 45 1.296
521
PRP016 Paraplegia 52 1.295
522
WTH001 Withdrawal Disorder 47 1.293
523
CLF056 Cleft Lip with or Without Cleft Palate 43 1.286
524
P RTN022 Retinal Vein Occlusion 54 1.286
525
PTT037 Pituitary Tumors 44 1.282
526
GST033 Gestational Diabetes 60 1.278
527
INF034 Infective Endocarditis 53 1.273
528
c PRG106 Progressive Muscular Dystrophy 31 1.271
529
CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 49 1.263
530
PST028 Post-Traumatic Stress Disorder 58 1.260
531
ENT011 Enterocolitis 55 1.257
532
PLG002 Plague 58 1.254
533
c HNT004 Huntington Disease-Like 2 51 1.253
534
MSL001 Measles 61 1.251
535
INT067 Interstitial Nephritis 46 1.248
536
END072 Endotheliitis 36 1.247
537
URT001 Urethritis 52 1.244
538
GST040 Gastric Adenocarcinoma 66 1.241
539
ERY029 Erythermalgia, Primary 57 1.239
540
P OBS001 Obstructive Jaundice 49 1.237
541
P RTN018 Retinal Disease 53 1.233
542
CNT016 Central Retinal Vein Occlusion 53 1.232
543
MLD018 Mild Cognitive Impairment 48 1.213
544
ORG002 Organic Acidemia 43 1.207
545
FCS014 Fucosidase Regulator 15 1.198
546
FCT001 Factor Viii Deficiency 61 1.192
547
c HMP029 Hemophilia a 69 1.192
548
ARG006 Aregenerative Anemia 28 1.192
549
MNS015 Monosodium Glutamate Sensitivity 18 1.183
550
VSC002 Vascular Dementia 59 1.178
551
ACH004 Achondroplasia 65 1.176
552
SNS003 Sensory Peripheral Neuropathy 51 1.174
553
URT049 Urate Oxidase, Pseudogene 24 1.167
554
MLY001 Molybdenum Cofactor Deficiency 40 1.154
555
SVN002 Sveinsson Chorioretinal Atrophy 45 1.152
556
AGR002 Agoraphobia 45 1.151
557
P TRC086 Trichohepatoenteric Syndrome 1 59 1.149
558
P PTT006 Pituitary Adenoma 55 1.148
559
ACT003 Acute Kidney Tubular Necrosis 46 1.146
560
PRM236 Primary Biliary Cholangitis 62 1.144
561
PRX001 Peroxisomal Disease 46 1.143
562
DSS008 Disease of Mental Health 74 1.138
563
c HYP724 Hyperlipoproteinemia, Type Iii 66 1.131
564
P DBT005 Diabetes Insipidus 54 1.124
565
MNN020 Meningococcal Infection 44 1.121
566
c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 44 1.120
567
MCR103 Microtia 40 1.120
568
P FRD001 Friedreich Ataxia 62 1.116
569
P HLP001 Holoprosencephaly 68 1.107
570
SCT005 Scott Syndrome 51 1.104
571
LGN006 Legionnaire Disease 52 1.101
572
P MYG005 Myoglobinuria 40 1.101
573
P PRN026 Porencephaly 54 1.101
574
24D001 2,4-Dienoyl-Coa Reductase Deficiency 35 1.101
575
CLP002 Colpocephaly 22 1.101
576
c HYP272 Hypercholesterolemia, Familial, 3 46 1.101
577
ATY005 Atypical Teratoid Rhabdoid Tumor 69 1.101
578
ORN004 Ornithinemia 13 1.093
579
c ANM036 Anemia, Sideroblastic, 1 56 1.089
580
ACT084 Acute Stress Disorder 53 1.077
581
VTM002 Vitamin B12 Deficiency 48 1.075
582
SCH036 Scheie Syndrome 73 1.070
583
CLS016 Clostridium Difficile Colitis 49 1.070
584
TRN015 Transient Cerebral Ischemia 62 1.057
585
DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 34 1.057
586
P RTN008 Retinitis Pigmentosa 79 1.055
587
CCC002 Coccidiosis 50 1.054
588
SCR011 Scrapie 39 1.045
589
TMP019 Temporomandibular Joint Anomaly 28 1.042
590
SPS057 Spasticity 43 1.039
591
P BLD124 Bleeding Disorder, Platelet-Type, 11 68 1.034
592
P NRF002 Neurofibromatosis 60 1.033
593
LWC001 Low Compliance Bladder 44 1.032
594
HYD030 Hydroxykynureninuria 27 1.031
595
NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 33 1.031
596
c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43 1.031
597
PHL006 Phelan-Mcdermid Syndrome 61 1.031
598
MSC020 Mosaic Trisomy 8 35 1.031
599
ISL109 Isolated Cleft Lip 33 1.031
600
HLC007 Helicobacter Pylori Infection 67 1.021
601
ADG002 Audiogenic Seizures 25 1.016
602
P OPN001 Open-Angle Glaucoma 55 1.016
603
c BCT007 Bacterial Meningitis 55 1.004
604
RTN017 Retinal Detachment 60 1.003
605
MCR018 Microcytic Anemia 46 1.001
606
MST004 Mast Cell Neoplasm 41 0.993
607
EXT007 Extracutaneous Mastocytoma 38 0.993
608
PTH003 Pathologic Nystagmus 52 0.990
609
BCK003 Background Diabetic Retinopathy 46 0.988
610
BHR001 Behr Syndrome 51 0.981
611
P PRN023 Prion Disease 60 0.977
612
XRD010 Xeroderma Pigmentosum, Variant Type 72 0.976
613
PRC013 Pericarditis 53 0.975
614
c GLC092 Glaucoma, Primary Open Angle 60 0.974
615
DBT002 Diabetic Autonomic Neuropathy 40 0.971
616
c GLY004 Glycogen Storage Disease V 62 0.969
617
HRL003 Hurler Syndrome 66 0.967
618
ORL011 Oral Cancer 60 0.951
619
PRP082 Porphyria, Congenital Erythropoietic 56 0.950
620
c ATM011 Autoimmune Hepatitis 62 0.930
621
P TRC031 Trichorhinophalangeal Syndrome 37 0.920
622
PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 38 0.914
623
PRN033 Paraneoplastic Neurologic Disorders 31 0.905
624
TLR001 Tularemia 56 0.898
625
NNN007 Non-Involuting Congenital Hemangioma 40 0.897
626
PRD004 Prediabetes Syndrome 52 0.892
627
PRN011 Pernicious Anemia 52 0.891
628
ATN005 Autonomic Dysfunction 45 0.891
629
P MTC069 Mitochondrial Disorders 57 0.891
630
OST015 Osteochondrodysplasia 60 0.887
631
CRT013 Carotid Stenosis 51 0.882
632
c TBR025 Tuberous Sclerosis 1 84 0.880
633
GNG008 Ganglioneuroblastoma 46 0.880
634
P HMR003 Hemorrhagic Disease 59 0.867
635
c TYR013 Tyrosinemia, Type Ii 48 0.867
636
CHL079 Children's Interstitial Lung Disease 25 0.852
637
MTB016 Metabolic Myopathy 30 0.849
638
BTN003 Biotinidase Deficiency 61 0.847
639
DBT004 Diabetic Polyneuropathy 50 0.844
640
P CRB045 Cerebellar Hypoplasia 40 0.840
641
P SBS003 Substance Abuse 54 0.830
642
SPR020 Superficial Mycosis 34 0.830
643
CLR108 Colorectal Adenoma 63 0.820
644
P RBL001 Rubella 58 0.818
645
P CRN024 Corneal Disease 43 0.813
646
NSS002 Neisseria Meningitidis Infection 46 0.812
647
PRS034 Parasitic Helminthiasis Infectious Disease 50 0.810
648
PTT048 Pituitary Adenoma, Prolactin-Secreting 64 0.798
649
WST005 West Nile Virus 55 0.796
650
DSS012 Disseminated Infection with Mycobacterium Avium Complex 18 0.796
651
P STR092 Striatal Degeneration, Autosomal Dominant 2 44 0.791
652
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 0.787
653
ACR008 Acrocallosal Syndrome 69 0.787
654
P TYR004 Tyrosinemia 49 0.785
655
P LMY004 Leiomyosarcoma 62 0.781
656
P OCY003 Oocyte Maturation Defect 1 46 0.779
657
c MCR312 Microphthalmia, Syndromic 10 39 0.778
658
HYP001 Hypochromic Microcytic Anemia 36 0.777
659
c INF185 Infantile Epilepsy Syndrome 30 0.772
660
LWG006 Low Grade Glioma 41 0.759
661
CLR109 Colorectal Adenocarcinoma 50 0.758
662
RSP027 Respiratory Papillomatosis, Juvenile Recurrent, Congenital 47 0.749
663
P PRG092 Pregnancy Loss, Recurrent 1 42 0.749
664
SCH003 Schizophreniform Disorder 54 0.749
665
CRT016 Carotid Artery Disease 52 0.748
666
OCL066 Oculogyric Crisis 35 0.747
667
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 57 0.747
668
P ATR005 Atrophic Gastritis 50 0.740
669
MLT006 Multidrug-Resistant Tuberculosis 47 0.720
670
BNG077 Benign Idiopathic Neonatal Seizures 23 0.714
671
P PRV006 Pervasive Developmental Disorder 52 0.706
672
SBC003 Subacute Bacterial Endocarditis 33 0.700
673
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 35 0.685
674
P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 57 0.685
675
TXC002 Toxic Encephalopathy 51 0.685
676
CCC001 Coccidioidomycosis 57 0.680
677
SDD001 Sudden Infant Death Syndrome 60 0.678
678
P MMB011 Membranous Nephropathy 50 0.675
679
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 55 0.670
680
FSC002 Fascioliasis 43 0.661
681
P HYP058 Hypervitaminosis a 47 0.645
682
MGL001 Megaloblastic Anemia 59 0.640
683
P RCT021 Rectum Cancer 54 0.623
684
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 37 0.600
685
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 29 0.600
686
P PRC031 Preeclampsia/eclampsia 1 43 0.600
687
THY111 Thyroid Carcinoma, Familial Medullary 67 0.584
688
DMN031 Dementia, Lewy Body 65 0.584
689
THY125 Thyroid Gland Medullary Carcinoma 48 0.577
690
HMM004 Hamamy Syndrome 39 0.570
691
STF001 Stiff-Person Syndrome 57 0.561
692
ADS004 Aids Dementia Complex 39 0.556
693
SXL003 Sexual Disorder 49 0.548
694
P PRL003 Proliferative Glomerulonephritis 43 0.539
695
HRL004 Hurler-Scheie Syndrome 58 0.538
696
FTL021 Fetal Macrosomia 40 0.520
697
LTH004 Lathyrism 15 0.520
698
ACD008 Acid-Labile Subunit Deficiency 52 0.519
699
P HYP097 Hyperekplexia 62 0.517
700
DMP001 Dumping Syndrome 43 0.512
701
P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 13 0.503
702
ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 18 0.503
703
ACN002 Acanthosis Nigricans 56 0.503
704
P VNS003 Venous Insufficiency 54 0.503
705
TBR011 Tuberculous Meningitis 48 0.503
706
GLL008 Gilles De La Tourette Syndrome 64 0.483
707
P FML340 Familial Episodic Pain Syndrome 50 0.483
708
YLL002 Yellow Fever 61 0.467
709
NRL018 Neural Tube Defects, Folate-Sensitive 46 0.458
710
LGS001 Legius Syndrome 60 0.458
711
P DVL113 Developmental and Epileptic Encephalopathy 46 0.444
712
HYP596 Hypophosphatasia, Childhood 47 0.423
713
XLN067 X-Linked Protoporphyria 19 0.419
714
MMB001 Membranoproliferative Glomerulonephritis 56 0.416
715
STT009 Sutton Disease 2 30 0.416
716
PST021 Postpartum Depression 50 0.415
717
P GLL022 Guillain-Barre Syndrome 59 0.387
718
P FTL001 Fetal Alcohol Syndrome 55 0.373
720
ASP004 Asphyxia Neonatorum 50 0.359
721
P FBR031 Febrile Seizures 52 0.353
722
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 59 0.350
724
PRS131 Prostate Cancer/brain Cancer Susceptibility 23 0.327
725
LKS001 Leukostasis 40 0.324
726
HLL004 Hellp Syndrome 53 0.318
727
BRN018 Borna Disease 36 0.312
728
HYP264 Hypertonia 35 0.312
729
P HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 42 0.307
730
VRG001 Variegate Porphyria 55 0.307
731
c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 36 0.300
732
RFT001 Rift Valley Fever 50 0.300
733
c SCH064 Schizophrenia 10 27 0.290
734
c NRP041 Neuropathy, Hereditary Sensory, Type Ie 48 0.290
735
c DVL034 Developmental and Epileptic Encephalopathy 3 46 0.290
736
FLN005 Folinic Acid-Responsive Seizures 11 0.290
737
P XNT004 Xanthinuria 38 0.290
738
ORN001 Ornithosis 39 0.290
739
KLB003 Klebsiella Pneumonia 49 0.290
740
c HRD142 Hereditary Xanthinuria 44 0.290
741
MNK001 Menkes Disease 64 0.287
742
NRM022 Neurometabolic Disease 24 0.287
743
HYD055 Hydroxylysinuria 16 0.273
744
PHS019 Phosphohydroxylysinuria 17 0.273
745
c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39 0.268
746
SGW002 Segawa Syndrome, Autosomal Recessive 44 0.257
747
c L2H001 L-2-Hydroxyglutaric Aciduria 49 0.257
748
c DVL033 Developmental and Epileptic Encephalopathy 1 50 0.257
749
c 2HY001 2-Hydroxyglutaric Aciduria 38 0.257
750
LNG030 Lung Adenoma 37 0.257
751
PLC007 Placental Abruption 47 0.257
752
ETH012 Ethylene Glycol Poisoning 29 0.256
753
MCR017 Macrocytic Anemia 44 0.243
754
c RNG015 Ring Chromosome 2 22 0.243
755
THY039 Thyrotropin-Releasing Hormone Deficiency 28 0.237
756
c DVL038 Developmental and Epileptic Encephalopathy 7 48 0.237
757
DSR052 Disorder of Glyoxylate Metabolism 7 0.237
758
c PRT132 Protoporphyria, Erythropoietic, 1 61 0.229
759
P CLD001 Cleidocranial Dysplasia 64 0.229
760
DBT090 Diabetes and Deafness, Maternally Inherited 44 0.229
761
c MYG007 Myoglobinuria, Recurrent 31 0.229
762
CHL061 Childhood Leukemia 47 0.229
763
ALX002 Alexithymia 36 0.212
764
HYP003 Hypermethioninemia 51 0.212
765
DRV001 Dravet Syndrome 69 0.212
766
SRN001 Serine Deficiency 24 0.212
767
SLF014 Sulfite Oxidase Deficiency, Isolated 53 0.212
768
FCL014 Focal Epilepsy 53 0.212
769
DYS009 Dysthymic Disorder 51 0.212
770
PTY002 Pityriasis Versicolor 38 0.212
771
NRM021 Neurometabolic Disorder Due to Serine Deficiency 15 0.212
772
NRD101 Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly 26 0.212
773
STL001 St. Louis Encephalitis 38 0.212
774
ACT191 Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion 19 0.212
775
c HYD064 Hydrocephalus, Congenital, 1 51 0.193
776
TTH030 Teeth, Supernumerary 32 0.193
777
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 63 0.193
778
BRG013 Buerger Disease 56 0.193
779
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 48 0.193
780
HYP690 Hyper-Beta-Alaninemia 24 0.193
781
TRN004 Trench Fever 28 0.193
782
CRB033 Cerebral Degeneration 36 0.193
783
P NNT058 Neonatal Diabetes 52 0.193
784
PLY012 Polyhydramnios 46 0.193
785
c CLD019 Cleidocranial Dysplasia Spectrum Disorder 20 0.193
786
HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 42 0.193
787
P PRG002 Progesterone-Receptor Positive Breast Cancer 33 0.168
788
c BNG023 Benign Familial Infantile Epilepsy 57 0.168
789
PHT008 Photosensitive Epilepsy 41 0.168
790
HST006 Histidinemia 48 0.168
791
ACR012 Aicardi Syndrome 46 0.168
792
PLL008 Pallister-Killian Syndrome 41 0.168
793
P ORF002 Orofacial Cleft 43 0.168
794
c DVL035 Developmental and Epileptic Encephalopathy 4 40 0.168
795
c DVL039 Developmental and Epileptic Encephalopathy 11 41 0.168
796
GBT001 Gaba-Transaminase Deficiency 37 0.168
797
c ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 23 0.168
798
IRN004 Iron-Refractory Iron Deficiency Anemia 46 0.168
799
ACT133 Acetylation, Slow 20 0.168
800
c SZR007 Seizures, Benign Familial Infantile, 3 45 0.168
801
c DVL041 Developmental and Epileptic Encephalopathy 13 44 0.168
802
HYP042 Hypochondroplasia 58 0.168
803
c GLY005 Glycogen Storage Disease Vi 59 0.168
804
GST007 Gastric Dilatation 29 0.168
805
P HYP073 Hypersensitivity Reaction Type Iv Disease 44 0.168
806
ATH004 Athetosis 25 0.168
809
STX004 Stxbp1 Encephalopathy with Epilepsy 14 0.168
811
STX005 Stxbp1 Encephalopathy 23 0.168
812
MLG120 Malignant Migrating Partial Seizures of Infancy 44 0.168
813
UND011 Undetermined Early-Onset Epileptic Encephalopathy 47 0.168
814
ORF053 Orofacial Clefting Syndrome 31 0.168
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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