Search results for aldh7a1

127 hits were found for aldh7a1

# Family MCID Name MIFTS Score
1
EPL131 Epilepsy, Pyridoxine-Dependent 45 121.466
2
P SZR006 Seizure Disorder 70 43.222
3
P EPL164 Epilepsy 68 28.135
4
c HYD064 Hydrocephalus, Congenital, 1 51 14.588
5
P OST002 Osteoporosis 76 12.169
6
FLN005 Folinic Acid-Responsive Seizures 11 10.614
7
c HYP595 Hypertension, Essential 85 10.327
8
P HNT016 Huntington Disease 73 10.327
9
GLY010 Glycine Encephalopathy 57 9.818
10
DSS008 Disease of Mental Health 74 9.567
11
PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 50 8.808
12
P ERL057 Early Infantile Epileptic Encephalopathy 60 8.532
13
P HYP111 Hyperprolinemia 45 7.917
14
c HYP597 Hyperprolinemia, Type Ii 43 7.917
15
P RTN008 Retinitis Pigmentosa 80 7.302
16
SXL003 Sexual Disorder 49 7.302
17
c RTN178 Retinitis Pigmentosa 72 31 7.302
18
VSC004 Vasculogenic Impotence 29 7.302
19
ACR013 Acrodysostosis 51 7.302
20
MCN009 Mucinous Stomach Adenocarcinoma 24 7.302
21
PSY003 Psychosexual Disorder 31 7.302
22
CRT012 Cortical Blindness 42 7.302
23
VRT003 Vertebrobasilar Insufficiency 31 7.302
24
IMP005 Impotence 52 7.302
25
NLL001 Null-Cell Leukemia 30 7.302
26
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 6.437
27
ATS010 Autosomal Recessive Disease 42 6.171
28
P ENC018 Encephalopathy 62 5.282
29
WST001 West Syndrome 59 2.816
30
P HYD006 Hydrocephalus 61 2.816
31
PNC041 Pancreatic Ductal Adenocarcinoma 51 2.621
32
CLB010 Coloboma of Macula 53 2.283
33
SQM006 Squamous Cell Carcinoma 60 2.283
34
HYP266 Hypoxia 57 2.007
35
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 1.842
36
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 1.842
37
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 1.647
38
P DVL113 Developmental and Epileptic Encephalopathy 43 1.626
39
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 54 1.601
40
P PRS040 Prostate Cancer 95 1.582
41
SKN019 Skin Melanoma 71 1.568
42
DRV001 Dravet Syndrome 69 1.506
43
STT001 Status Epilepticus 59 1.506
44
ONC007 Oncocytoma 50 1.478
45
RNL114 Renal Cell Carcinoma, Nonpapillary 80 1.478
46
P RNL017 Renal Oncocytoma 54 1.478
47
P THR014 Thrombocytopenia 66 1.392
48
ASP004 Asphyxia Neonatorum 50 1.392
49
P LCT001 Lactic Acidosis 51 1.375
50
P HYP035 Hypophosphatasia 62 1.375
51
HYP056 Hypoglycemia 65 1.375
52
c INF185 Infantile Epilepsy Syndrome 29 1.229
54
OHT001 Ohtahara Syndrome 38 1.229
55
P OVR042 Ovarian Cancer 88 1.132
56
P LNG032 Lung Cancer 98 1.065
57
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 1.065
58
CRP032 Corpus Callosum, Agenesis of 49 1.065
59
P HPT023 Hepatocellular Carcinoma 96 1.065
60
ORG002 Organic Acidemia 44 1.065
61
GLB002 Glioblastoma 67 1.065
62
PYR009 Pyridoxine Deficiency Anemia 35 1.065
63
P HYP265 Hypotonia 42 1.065
64
SPR033 Superficial Spreading Melanoma 25 0.869
65
WTH001 Withdrawal Disorder 48 0.869
66
PRP001 Propionic Acidemia 65 0.869
67
ENT011 Enterocolitis 55 0.869
68
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 0.869
69
c DVL034 Developmental and Epileptic Encephalopathy 3 44 0.869
70
SYN036 Syncope 45 0.869
71
LNG039 Lung Squamous Cell Carcinoma 57 0.869
72
P CTR002 Cataract 60 0.869
73
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 0.869
74
NDL001 Nodular Malignant Melanoma 45 0.869
75
P MLN008 Melanoma 76 0.869
76
c INH020 Inherited Metabolic Disorder 48 0.869
77
ERL001 Early Myoclonic Encephalopathy 62 0.869
78
STX004 Stxbp1 Encephalopathy with Epilepsy 15 0.869
79
P FBR031 Febrile Seizures 52 0.869
80
PYR016 Pyridoxine Deficiency 29 0.869
81
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.615
82
PLM134 Pulmonary Fibrosis, Idiopathic 76 0.615
83
SJG002 Sjogren-Larsson Syndrome 54 0.615
84
FBR012 Fabry Disease 70 0.615
85
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.615
86
MNK001 Menkes Disease 64 0.615
87
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.615
88
c PLM164 Pulmonary Hypertension, Primary, 1 76 0.615
89
P CLR023 Colorectal Cancer 100 0.615
90
ALC007 Alcohol Dependence 66 0.615
91
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.615
92
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.615
93
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.615
94
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 64 0.615
95
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.615
96
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.615
97
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 0.615
98
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.615
99
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.615
100
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.615
101
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.615
102
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 48 0.615
103
c HYP292 Hypophosphatasia, Infantile 55 0.615
104
MLY001 Molybdenum Cofactor Deficiency 40 0.615
105
AVN001 Avian Influenza 61 0.615
106
P HMC002 Homocystinuria 53 0.615
107
FTT001 Fatty Liver Disease 62 0.615
108
P MVM001 Movement Disease 61 0.615
109
DBT010 Diabetic Neuropathy 54 0.615
110
P MTH008 Methylmalonic Acidemia 52 0.615
111
P PLM036 Pulmonary Fibrosis 66 0.615
112
P INF038 Influenza 68 0.615
113
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.615
114
c FTL070 Fetal Akinesia Deformation Sequence 2 36 0.615
115
SNS003 Sensory Peripheral Neuropathy 52 0.615
116
PRM013 Premature Menopause 58 0.615
117
SVR004 Severe Combined Immunodeficiency 72 0.615
118
LVR012 Liver Cirrhosis 63 0.615
119
P INF032 Infertility 57 0.615
120
LPD008 Lipid Metabolism Disorder 62 0.615
121
ENC005 Encephalomalacia 44 0.615
123
MCP033 Mucopolysaccharidoses 44 0.615
124
P ATS364 Autism 69 0.517
125
P BRS047 Breast Cancer 98 0.517
126
P PNC035 Pancreatic Cancer 86 0.517
127
P LKM062 Leukemia, Acute Lymphoblastic 69 0.517
Content
Loading form....