Search results for slc12a2

101 hits were found for slc12a2

# Family MCID Name MIFTS Score
1
c DFN385 Deafness, Autosomal Dominant 78 17 24.605
2
KLQ001 Kilquist Syndrome 21 24.065
3
DLP001 Delpire-Mcneill Syndrome 15 23.581
4
P SNS001 Sensorineural Hearing Loss 59 21.944
5
P EPL164 Epilepsy 70 12.624
6
ISC004 Ischemia 61 12.462
7
P SCH015 Schizophrenia 74 11.720
8
P BRT004 Bartter Disease 58 10.456
9
P PLY014 Polycystic Kidney Disease 71 10.175
10
c HYP595 Hypertension, Essential 84 10.175
11
c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67 10.175
12
P INN002 Inner Ear Disease 50 10.175
13
P RTT002 Rett Syndrome 79 10.175
14
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 10.175
15
GTL001 Gitelman Syndrome 65 7.424
16
P EPL140 Epilepsy, Idiopathic Generalized 60 7.195
17
c EPL165 Epilepsy, Idiopathic Generalized 14 30 7.195
18
c DVL061 Developmental and Epileptic Encephalopathy 34 35 7.195
19
c DFN374 Deafness, Autosomal Recessive 100 28 7.195
20
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 50 7.195
21
P ERL057 Early Infantile Epileptic Encephalopathy 61 7.195
22
BYL001 Baylisascariasis 29 7.195
24
DSS008 Disease of Mental Health 74 7.195
25
ASP004 Asphyxia Neonatorum 50 7.195
26
RNL021 Renal Tubular Transport Disease 26 7.195
27
HYP231 Hypothalamic Hamartomas 33 7.195
28
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 5.649
29
c BRN108 Branchiootic Syndrome 1 63 2.535
30
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.937
31
P BRS047 Breast Cancer 97 1.339
32
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 1.281
33
P HYP265 Hypotonia 42 1.131
34
c ATS007 Autism Spectrum Disorder 72 1.092
35
P SYN057 Syndromic Intellectual Disability 37 1.092
36
ACT088 Acute Insulin Response 39 1.092
37
P MCR010 Microcephaly 59 1.092
38
P NNS072 Nonsyndromic Hearing Loss 40 1.092
39
P LNG032 Lung Cancer 98 1.049
40
c SML038 Small Cell Cancer of the Lung 69 1.049
41
P ENC018 Encephalopathy 62 1.049
42
c BRN138 Branchiootorenal Spectrum Disorder 19 1.049
43
P PRT026 Parotitis 42 0.997
44
c ATS484 Autosomal Dominant Nonsyndromic Deafness 78 6 0.981
45
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.945
46
LNG019 Lung Combined Type Small Cell Carcinoma 32 0.945
47
P LNG021 Lung Occult Small Cell Carcinoma 20 0.945
48
CNT099 Contractural Arachnodactyly, Congenital 54 0.930
49
P ORT004 Orthostatic Intolerance 62 0.930
50
BRS099 Breast Ductal Carcinoma 61 0.788
51
P PNC035 Pancreatic Cancer 86 0.713
52
P LKM062 Leukemia, Acute Lymphoblastic 69 0.551
53
P OVR042 Ovarian Cancer 88 0.551
54
CLR108 Colorectal Adenoma 63 0.324
55
CLT003 Colitis 63 0.324
56
ADN018 Adenoma 58 0.324
57
ULC004 Ulcerative Colitis 74 0.324
58
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 0.229
59
ANX010 Anxiety 70 0.229
60
APP015 Apparent Mineralocorticoid Excess 57 0.229
61
P ATT013 Attention Deficit-Hyperactivity Disorder 66 0.229
62
P PRP019 Peripheral Nervous System Disease 57 0.229
63
PNC129 Pancreatic Adenocarcinoma 65 0.229
64
CRH001 Crohn's Disease 80 0.229
65
P NRP001 Neuropathy 59 0.229
66
P DBT005 Diabetes Insipidus 54 0.229
67
CYS001 Cystic Fibrosis 77 0.162
68
PND002 Pendred Syndrome 57 0.162
69
c DVL092 Developmental and Epileptic Encephalopathy 68 24 0.162
70
NRD062 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 22 0.162
71
ATS010 Autosomal Recessive Disease 42 0.162
72
P OPN001 Open-Angle Glaucoma 55 0.162
73
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.162
74
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64 0.162
75
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.162
76
DCT002 Ductal Carcinoma in Situ 58 0.162
77
DHS002 Deeah Syndrome 24 0.162
78
NRD107 Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia 23 0.162
79
P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45 0.162
80
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.162
81
P CLR023 Colorectal Cancer 100 0.162
82
HRN029 Hearing Loss, Noise-Induced 37 0.162
83
c GLC092 Glaucoma, Primary Open Angle 61 0.162
84
P ATS364 Autism 72 0.162
85
GLB002 Glioblastoma 67 0.162
86
DNT012 Dental Caries 53 0.162
87
P RNL007 Renal Tubular Acidosis 52 0.162
88
GTR002 Goiter 52 0.162
89
P LVR013 Liver Disease 68 0.162
90
P TMP001 Temporal Lobe Epilepsy 49 0.162
91
c RTN041 Retinitis Pigmentosa 11 43 0.162
92
GLM045 Glioma 62 0.162
93
P INS002 in Situ Carcinoma 53 0.162
94
GLL048 Glial Tumor 52 0.162
95
P SZR006 Seizure Disorder 69 0.162
96
c BRT024 Bartter Syndrome Type 4 25 0.162
97
FTT001 Fatty Liver Disease 61 0.162
99
PND005 Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct 14 0.162
100
SPT025 Sptbn4 Disorder 10 0.162
101
STX004 Stxbp1 Encephalopathy with Epilepsy 14 0.162
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