Search results for sdha

89 hits were found for sdha

# Family MCID Name MIFTS Score
1
INH023 Inherited Cancer-Predisposing Syndrome 46 10.833
2
MTC020 Mitochondrial Complex Ii Deficiency 54 9.329
3
c PRG094 Paragangliomas 5 28 8.460
4
LGH007 Leigh Syndrome 70 6.057
5
c CRD082 Cardiomyopathy, Dilated, 1gg 37 4.708
6
c HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 59 3.981
7
P PHC003 Pheochromocytoma 71 3.491
8
P PRG013 Paraganglioma 52 3.491
9
GST019 Gastrointestinal Stromal Tumor 78 3.012
10
KRN002 Kearns-Sayre Syndrome 63 2.704
11
P HYP076 Hyperthyroidism 55 2.704
12
CRN055 Carney Triad 44 2.423
13
P LKD001 Leukodystrophy 59 2.280
14
P HRD020 Hereditary Renal Cell Carcinoma 34 2.280
15
c DLT002 Dilated Cardiomyopathy 79 2.208
16
P MYP004 Myopathy 70 2.208
17
P DYS154 Dystonia 65 2.208
18
BRT005 Barth Syndrome 57 2.208
19
P PHC019 Pheochromocytoma-Paraganglioma 36 1.763
20
PRG017 Paraganglioma and Gastric Stromal Sarcoma 61 1.739
21
c MLT160 Multiple Endocrine Neoplasia, Type Iia 70 1.684
22
BLY006 B-Lymphoblastic Leukemia/lymphoma with Hypodiploidy 26 1.651
23
MTC005 Mitochondrial Metabolism Disease 49 1.612
24
FML304 Familial Isolated Dilated Cardiomyopathy 40 1.612
25
LGH012 Leigh Syndrome with Leukodystrophy 34 1.612
26
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 60 1.561
27
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 1.561
28
FMR004 Fumarase Deficiency 51 1.561
29
QDR001 Quadriplegia 48 1.561
30
c ACT076 Acute Myocarditis 46 1.561
31
CHN010 Chondroma 43 1.561
32
P CRD234 Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction 42 1.561
33
LYM116 Lymph Node Disease 41 1.561
34
VSL013 Visual Impairment and Progressive Phthisis Bulbi 41 1.561
35
c CTR183 Cataract 38 40 1.561
36
SPS004 Spastic Quadriplegia 39 1.561
37
c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38 1.561
38
PRS123 Persistent Generalized Lymphadenopathy 37 1.561
39
MTC112 Mitochondrial Dna-Associated Leigh Syndrome 37 1.561
40
c DFN360 Deafness, Autosomal Dominant 69 37 1.561
41
FST001 Foster-Kennedy Syndrome 36 1.561
42
EXT054 Extra-Adrenal Pheochromocytoma 34 1.561
43
GST036 Gastric Leiomyosarcoma 31 1.561
44
CRB015 Cerebellar Angioblastoma 30 1.561
45
ESP014 Esophagus Leiomyoma 29 1.561
46
ADR014 Adrenal Medulla Cancer 29 1.561
47
NRL008 Neural Crest Tumor 27 1.561
48
c MTC014 Mitochondrial Dna Deletion Syndromes 26 1.561
49
c ATN017 Autonomic Nervous System Benign Neoplasm 26 1.561
50
c PRP105 Peripheral Nervous System Benign Neoplasm 24 1.561
51
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 24 1.561
52
END036 Endocrine Organ Benign Neoplasm 22 1.561
53
ADR040 Adrenal Gland Pheochromocytoma 46 0.222
54
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.123
55
VNH007 Von Hippel-Lindau Syndrome 73 0.087
56
P NRB001 Neuroblastoma 72 0.087
57
P MTC069 Mitochondrial Disorders 56 0.087
58
P PTT006 Pituitary Adenoma 55 0.087
59
JVN009 Juvenile Pilocytic Astrocytoma 55 0.087
60
GLB015 Glioblastoma Multiforme 75 0.061
61
P HNT016 Huntington Disease 72 0.061
62
P MLN008 Melanoma 69 0.061
63
SKN019 Skin Melanoma 68 0.061
64
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 0.061
65
HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 61 0.061
66
P KDN017 Kidney Cancer 60 0.061
67
SPP011 Suppression of Tumorigenicity 12 59 0.061
68
P MLN069 Melanoma, Uveal 59 0.061
69
GRD007 Grade Iii Astrocytoma 59 0.061
70
ADN018 Adenoma 59 0.061
71
ISL001 Islet Cell Tumor 56 0.061
72
P NRF002 Neurofibromatosis 56 0.061
73
P PLY019 Polyneuropathy 56 0.061
74
NRN004 Neuroendocrine Tumor 55 0.061
75
CLR030 Clear Cell Renal Cell Carcinoma 53 0.061
76
CLL002 Collecting Duct Carcinoma 53 0.061
77
c MLN055 Melanoma, Cutaneous Malignant 10 52 0.061
78
FBR008 Fibrillary Astrocytoma 51 0.061
79
P AST007 Astrocytoma 51 0.061
81
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.061
82
PTT037 Pituitary Tumors 44 0.061
83
LMY003 Leiomyomatosis 43 0.061
84
P HYP265 Hypotonia 43 0.061
85
INT020 Intravenous Leiomyomatosis 36 0.061
86
PRS108 Persistent Polyclonal B-Cell Lymphocytosis 35 0.061
87
c PRG019 Paragangliomas 2 31 0.061
88
PST092 Posttransplant Acute Limbic Encephalitis 29 0.061
89
GLM046 Glomus Vagale Tumor 15 0.061
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