Search results for aldh18a1

120 hits were found for aldh18a1

# Family MCID Name MIFTS Score
1
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 53 61.293
2
c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44 49.869
3
c CTS041 Cutis Laxa, Autosomal Dominant 3 46 47.688
4
c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48 39.159
5
c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40 37.532
6
c CTS045 Cutis Laxa, Autosomal Dominant 1 52 36.218
7
c SPS042 Spastic Paraplegia 9 22 33.325
8
PRP016 Paraplegia 52 17.624
9
P CTS001 Cutis Laxa 64 16.938
10
c HRD010 Hereditary Spastic Paraplegia 65 13.776
11
P CTR002 Cataract 59 13.219
12
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 13.054
13
GST092 Gastroesophageal Reflux 59 11.570
14
DSS008 Disease of Mental Health 74 11.519
15
c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42 10.912
16
c SPS039 Spastic Paraplegia 5a 31 10.912
17
c ATS393 Autosomal Recessive Cutis Laxa Type I 49 9.957
18
SPS019 Spastic Paraparesis 38 9.871
19
SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 27 8.753
20
c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16 7.909
21
c LKD020 Leukodystrophy, Hypomyelinating, 10 42 6.840
22
ARG007 Argininemia 58 6.840
23
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 54 6.840
24
c HYP597 Hyperprolinemia, Type Ii 43 6.840
25
P HYP111 Hyperprolinemia 44 6.840
26
GMM004 Gamma-Amino Butyric Acid Metabolism Disorder 27 6.680
27
c SPS110 Spastic Paraplegia 19, Autosomal Dominant 30 6.680
28
c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28 6.680
29
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45 6.680
30
c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46 6.680
31
GRD005 Geroderma Osteodysplasticum 48 6.680
32
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 59 6.680
33
c SPS198 Spastic Paraplegia 16, X-Linked 31 6.680
34
c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38 6.680
35
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50 6.680
36
CKS001 Ck Syndrome 41 6.680
37
OCC006 Occipital Horn Syndrome 53 6.680
38
MND023 Mend Syndrome 49 6.680
39
c SPS113 Spastic Paraplegia 33, Autosomal Dominant 39 6.680
40
c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 45 6.680
41
c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37 6.680
42
c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43 6.680
43
GYR004 Gyrate Atrophy of Choroid and Retina 58 6.680
44
c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29 6.680
45
c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29 6.680
46
NLX003 Neu-Laxova Syndrome 2 47 6.680
47
ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35 6.680
48
P MCR010 Microcephaly 59 2.095
49
P HYP265 Hypotonia 42 1.791
50
SPS057 Spasticity 43 1.509
51
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 1.348
52
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 57 1.151
53
HTC003 Hutchinson-Gilford Progeria Syndrome 65 1.151
54
P RTN008 Retinitis Pigmentosa 79 1.120
55
P STR020 Strabismus 56 1.120
56
NRR001 Neuroretinitis 42 1.120
57
RTN023 Retinitis 45 1.120
58
MCH006 Mechanical Strabismus 40 1.120
59
P NRB001 Neuroblastoma 66 1.120
61
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.085
62
WRN004 Wrinkly Skin Syndrome 37 1.047
63
P TMP001 Temporal Lobe Epilepsy 49 1.004
64
P TRM003 Tremor 50 1.004
65
P WRB001 Warburg Micro Syndrome 41 0.887
66
DWN001 Down Syndrome 70 0.887
67
c WRB002 Warburg Micro Syndrome 1 51 0.887
68
P DMN002 Dementia 65 0.887
69
CRP032 Corpus Callosum, Agenesis of 49 0.727
70
c MSM022 Mismatch Repair Cancer Syndrome 1 69 0.654
71
c GLM043 Glioma Susceptibility 9 30 0.654
72
c GLM025 Glioma Susceptibility 2 30 0.654
73
c GLM047 Glioma Susceptibility 3 32 0.654
74
MNN043 Meningioma, Familial 79 0.654
75
P GLM040 Glioma Susceptibility 1 70 0.654
76
P OLG002 Oligodendroglioma 66 0.654
77
GLM045 Glioma 62 0.654
78
P BRS047 Breast Cancer 97 0.573
79
P PNC035 Pancreatic Cancer 87 0.573
80
MYL005 Myelofibrosis 70 0.573
81
P MLN008 Melanoma 75 0.393
82
P CMP101 Complex Hereditary Spastic Paraplegia 21 0.359
83
P PRR040 Pure or Complex Hereditary Spastic Paraplegia 9 0.359
84
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52 0.278
85
P HPT023 Hepatocellular Carcinoma 95 0.278
86
c CNG198 Congenital Disorder of Glycosylation, Type Il 41 0.227
87
PLM134 Pulmonary Fibrosis, Idiopathic 76 0.227
88
ATS010 Autosomal Recessive Disease 42 0.227
89
P PLM036 Pulmonary Fibrosis 65 0.227
91
c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 61 0.160
92
EPL131 Epilepsy, Pyridoxine-Dependent 46 0.160
93
AGN016 Aging 53 0.160
94
c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25 0.160
95
c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 27 0.160
96
c ALB021 Albinism, Oculocutaneous, Type Ii 58 0.160
97
ENT011 Enterocolitis 55 0.160
98
IMM167 Immune Deficiency Disease 76 0.160
99
SJG002 Sjogren-Larsson Syndrome 53 0.160
100
c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 47 0.160
101
P LNG064 Lung Cancer Susceptibility 3 69 0.160
102
P HYP700 Hypomyelinating Leukodystrophy 35 0.160
103
NNL006 Non-Alcoholic Steatohepatitis 54 0.160
104
INT071 Intestinal Perforation 49 0.160
105
P MYP006 Myopia 55 0.160
106
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.160
107
P EHL001 Ehlers-Danlos Syndrome 57 0.160
108
P ADN016 Adenocarcinoma 63 0.160
109
AVN001 Avian Influenza 61 0.160
110
P LKD001 Leukodystrophy 58 0.160
111
RCK004 Rickets 64 0.160
112
P MTH008 Methylmalonic Acidemia 52 0.160
113
c INH020 Inherited Metabolic Disorder 47 0.160
114
PRN019 Perinatal Necrotizing Enterocolitis 60 0.160
115
TTR011 Tetraploidy 43 0.160
117
RFR003 Refractive Error 41 0.160
118
ORN004 Ornithinemia 13 0.160
120
PLY100 Polyploidy 36 0.160
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