Search results for nefh

100 hits were found for nefh

# Family MCID Name MIFTS Score
1
c AMY091 Amyotrophic Lateral Sclerosis 1 87 40.985
2
c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 29 32.248
3
P LTR001 Lateral Sclerosis 57 21.454
4
P CHR071 Charcot-Marie-Tooth Disease 64 14.893
5
P MTR014 Motor Neuron Disease 65 12.921
6
TTH006 Tooth Disease 51 12.593
7
P NRP001 Neuropathy 59 11.890
8
P AXN001 Axonal Neuropathy 33 11.481
9
FRN006 Frontotemporal Dementia 68 10.390
10
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 63 10.231
11
P ALZ034 Alzheimer Disease 87 10.231
12
c HMC039 Hemochromatosis, Type 1 73 10.231
13
P HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 49 8.950
14
P PRP019 Peripheral Nervous System Disease 57 8.352
15
P INT260 Intracranial Berry Aneurysm 40 7.234
16
PCK003 Pick Disease of Brain 70 7.234
17
c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 49 7.234
18
P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 64 7.234
19
c DFN179 Deafness, Autosomal Recessive 62 29 7.234
20
ASY002 Asymptomatic Neurosyphilis 41 7.234
21
PRG001 Progressive Muscular Atrophy 41 7.234
22
c GNT045 Giant Axonal Neuropathy 2 25 7.234
23
DSS008 Disease of Mental Health 74 7.234
24
NRM005 Neuromuscular Disease 62 7.234
25
PRG007 Progressive Bulbar Palsy 33 7.234
26
HYP141 Hyperphenylalaninemia 42 7.234
27
RNL114 Renal Cell Carcinoma, Nonpapillary 79 1.277
28
P NRB001 Neuroblastoma 66 1.221
29
P SCH015 Schizophrenia 74 1.155
30
P OPT006 Optic Nerve Disease 57 1.075
31
ALC007 Alcohol Dependence 65 1.024
32
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 1.024
33
CLR030 Clear Cell Renal Cell Carcinoma 53 1.024
34
P HRD217 Hereditary Optic Neuropathy 36 1.024
35
P BRS047 Breast Cancer 97 0.602
36
P PNC035 Pancreatic Cancer 87 0.602
37
P MMB011 Membranous Nephropathy 50 0.422
38
P FCL005 Focal Segmental Glomerulosclerosis 57 0.422
39
P NRF002 Neurofibromatosis 60 0.391
40
P HRP006 Herpes Simplex 65 0.391
41
c BRN108 Branchiootic Syndrome 1 63 0.357
42
c NRF023 Neurofibromatosis, Type Ii 70 0.357
43
P HPT023 Hepatocellular Carcinoma 95 0.357
44
TRM010 Traumatic Brain Injury 50 0.357
45
BRN071 Brain Injury 50 0.357
46
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52 0.319
47
EWN003 Ewing Sarcoma 69 0.319
48
DFN341 Deafness, Unilateral 24 0.226
49
P CLR023 Colorectal Cancer 100 0.226
50
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.226
51
c HRD010 Hereditary Spastic Paraplegia 65 0.226
52
PRP016 Paraplegia 52 0.226
53
P NRM002 Normal Pressure Hydrocephalus 49 0.226
54
P HYD006 Hydrocephalus 62 0.226
55
STT041 Stuttering 52 0.159
56
P SCL018 Scoliosis 57 0.159
57
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.159
58
MYP106 Myopathy, Myosin Storage, Autosomal Recessive 33 0.159
59
c GLC092 Glaucoma, Primary Open Angle 60 0.159
60
P MCH002 Machado-Joseph Disease 62 0.159
61
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 49 0.159
62
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.159
63
c LKM061 Leukemia, Acute Myeloid 83 0.159
64
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 0.159
65
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.159
66
P CHN012 Chondrosarcoma 56 0.159
67
P RTN008 Retinitis Pigmentosa 79 0.159
68
MNN043 Meningioma, Familial 79 0.159
69
EPD052 Epidermolysis Bullosa Simplex Superficialis 17 0.159
70
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.159
71
c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43 0.159
72
CHN056 Chondrosarcoma, Extraskeletal Myxoid 42 0.159
73
c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 44 0.159
74
P PRK039 Parkinsonism 55 0.159
75
P BNC003 Bone Cancer 58 0.159
76
P EXT030 Extraosseous Chondrosarcoma 31 0.159
77
P MVM001 Movement Disease 61 0.159
78
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.159
79
NRR001 Neuroretinitis 42 0.159
80
SCR001 Secretory Meningioma 40 0.159
81
P MYP004 Myopathy 67 0.159
82
SPN035 Spindle Cell Sarcoma 51 0.159
83
PLM014 Pleomorphic Adenoma 51 0.159
84
P OPN001 Open-Angle Glaucoma 55 0.159
85
INT395 Intracranial Meningioma 47 0.159
86
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.159
87
SRC014 Sarcoma 64 0.159
88
CRB004 Cerebral Artery Occlusion 45 0.159
89
P CTR002 Cataract 59 0.159
90
P MYX008 Myxoid Chondrosarcoma 28 0.159
91
RTN023 Retinitis 45 0.159
92
P MYL006 Myeloid Leukemia 60 0.159
93
SPC005 Speech Disorder 46 0.159
94
HYP082 Hypopharynx Cancer 47 0.159
95
OVR094 Ovarian Epithelial Cancer 39 0.159
96
P RRT020 Rare Tumor 39 0.159
97
c HRD088 Hereditary Neuropathies 34 0.159
98
HDN002 Head Injury 44 0.159
99
HYP266 Hypoxia 56 0.159
100
SPN186 Spinal Cord Injury 60 0.159
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