Search results for slc17a5

88 hits were found for slc17a5

# Family MCID Name MIFTS Score
1
P SLL003 Salla Disease 45 62.489
2
INF159 Infantile Sialic Acid Storage Disease 41 62.233
3
P FRS004 Free Sialic Acid Storage Disorders 41 52.935
4
P LVR013 Liver Disease 69 14.648
5
P HPT021 Hepatitis 69 13.102
6
FTT001 Fatty Liver Disease 62 12.054
7
SLR001 Sialuria 48 11.554
8
c ACT134 Acute Liver Failure 59 11.346
9
c TYP009 Type 2 Diabetes Mellitus 92 11.346
10
P MYP004 Myopathy 67 11.346
11
P EPL164 Epilepsy 68 11.346
12
LVR012 Liver Cirrhosis 63 11.346
13
CHL068 Cholestasis 61 11.346
14
c HPT016 Hepatitis B 62 11.346
15
P LKD001 Leukodystrophy 59 11.266
16
INT094 Intermediate Severe Salla Disease 13 10.492
17
INF047 Infantile Free Sialic Acid Storage Disease 16 9.473
18
ALC007 Alcohol Dependence 66 9.264
19
WLS001 Wilson Disease 70 9.264
20
FSC002 Fascioliasis 44 9.264
21
c VRL010 Viral Hepatitis 53 9.264
22
P BPL003 Bipolar Disorder 56 9.264
23
MTH009 Mouth Disease 57 9.264
24
PRM236 Primary Biliary Cholangitis 60 9.264
25
ALC006 Alcoholic Hepatitis 61 9.264
26
SCR008 Scrub Typhus 57 9.264
27
HPT019 Hepatic Encephalopathy 59 9.264
28
ALC009 Alcoholic Liver Cirrhosis 54 9.264
29
c ATM011 Autoimmune Hepatitis 63 9.264
30
CHL039 Choledocholithiasis 37 9.264
31
P OBS001 Obstructive Jaundice 48 9.264
32
HLL004 Hellp Syndrome 53 9.264
33
KDN009 Kidney Fibrosarcoma 27 7.259
34
PRQ002 Paraquat Poisoning 28 6.551
35
PRN071 Parenteral Nutrition-Associated Cholestasis 23 6.551
36
MTH086 Methotrexate Toxicity 32 6.551
37
URM005 Uremic Pruritus 45 6.551
38
PPL049 Papillon-Lefevre Syndrome 66 6.551
39
RCK002 Rocky Mountain Spotted Fever 34 6.551
40
ANL018 Analbuminemia 53 6.551
41
c NNN025 Noonan Syndrome 10 30 6.551
42
c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 52 6.551
43
IDP073 Idiopathic Hypercalciuria 40 6.551
44
LYS028 Lysosomal Glycogen Storage Disease 18 6.551
45
P ALC033 Alcohol Use Disorder 61 6.551
46
PYR009 Pyridoxine Deficiency Anemia 35 6.551
47
P END046 Endometritis 46 6.551
48
BLR008 Bilirubin Metabolic Disorder 57 6.551
49
MNN009 Meningoencephalitis 48 6.551
50
KWS001 Kwashiorkor 45 6.551
51
P PRM018 Primary Hypertrophic Osteoarthropathy 56 6.551
52
HST011 Histoplasmosis 55 6.551
53
P CMP008 Compartment Syndrome 50 6.551
54
P HYP265 Hypotonia 42 3.540
55
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 3.131
56
LYS002 Lysosomal Storage Disease 51 2.863
57
SPS057 Spasticity 42 2.800
58
PTH003 Pathologic Nystagmus 52 2.381
59
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 2.214
60
c INH020 Inherited Metabolic Disorder 48 2.214
61
LYS030 Lysosomal Storage Disease with Skeletal Involvement 15 1.799
62
DYS018 Dysostosis 44 1.799
63
P AGM001 Agammaglobulinemia 68 1.506
64
HMP001 Hemopericardium 47 1.506
65
P PRC012 Pericardial Effusion 50 1.506
66
HYD038 Hydrops Fetalis, Nonimmune 59 1.226
67
P DYS154 Dystonia 64 1.226
68
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.708
69
P PLM037 Pulmonary Hypertension 72 0.708
70
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.708
71
CNV004 Canavan Disease 62 0.708
72
P HNT016 Huntington Disease 73 0.708
73
P SYN057 Syndromic Intellectual Disability 38 0.708
74
P NNS031 Non-Syndromic Intellectual Disability 32 0.708
75
P FBR017 Fibrosarcoma 56 0.708
76
LNG039 Lung Squamous Cell Carcinoma 57 0.708
77
P AGN002 Agnosia 54 0.708
78
P GCH001 Gaucher's Disease 70 0.708
79
SQM006 Squamous Cell Carcinoma 60 0.708
80
CRB037 Cerebral Palsy 67 0.708
81
DPR016 Depression 65 0.708
82
P ENC018 Encephalopathy 62 0.708
83
ATH004 Athetosis 25 0.708
84
PLZ002 Pelizaeus-Merzbacher-Like Disease 37 0.708
85
P ATS364 Autism 69 0.551
86
P BRS047 Breast Cancer 98 0.551
87
P PNC035 Pancreatic Cancer 86 0.551
88
CLL010 Cellular Ependymoma 57 0.551
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