28 hits were found for 'PDHA1'
Try searching for pha1

# ++ Fam MCID Name MIFTS Score
1
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 28 8.164
2
XLN036 X-Linked Leigh Syndrome 10 7.070
3
PRT014 Protein S Deficiency 67 3.651
4
CFF002 Coffin-Lowry Syndrome 60 3.651
5
PRV004 Periventricular Leukomalacia 54 3.651
6
LKM006 Leukomalacia 45 3.651
7
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 33 3.651
8
P XLN007 X-Linked Disease 25 3.651
9
LCT001 Lactic Acidosis 44 3.206
10
CRB009 Cerebritis 46 3.162
11
P HYP075 Hypertension 76 2.582
12
P PRM006 Primary Biliary Cirrhosis 69 2.582
13
c HPT021 Hepatitis 65 2.582
14
HYP266 Hypoxia 60 2.582
15
c ATX004 Ataxia 56 2.582
16
PRS047 Prostatitis 50 2.582
17
c EPS003 Episodic Ataxia 50 2.582
18
RTN025 Retinoschisis 47 2.582
19
PYR002 Pyruvate Decarboxylase Deficiency 44 2.582
20
PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 17 2.582
21
P MLT019 Multiple Myeloma 76 1.826
22
P MLR004 Malaria 66 1.826
23
c MYL007 Myeloma 53 1.826
24
P LBY004 Labyrinthitis 47 1.826
25
P MTC069 Mitochondrial Disorders 46 1.826
26
INT063 Intellectual Disability 42 1.826
27
c LGH013 Leigh Syndrome with Cardiomyopathy 15 1.826
28
WST001 West Syndrome 64 0.082