Search results for slc4a1

187 hits were found for slc4a1

# Family MCID Name MIFTS Score
1
c ATS493 Autosomal Dominant Distal Renal Tubular Acidosis 21 53.952
2
P HRD011 Hereditary Spherocytosis 64 50.439
3
c SPH016 Spherocytosis, Type 4 39 46.293
4
c RNL125 Renal Tubular Acidosis, Distal, 1 31 44.394
5
P HML002 Hemolytic Anemia 62 37.763
6
CRY019 Cryohydrocytosis 34 36.078
7
MLR004 Malaria 80 35.338
8
OVL001 Ovalocytosis, Southeast Asian 33 33.259
9
RNL128 Renal Tubular Acidosis, Distal, 4, with Hemolytic Anemia 30 31.716
10
PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 56 28.494
11
P RNL007 Renal Tubular Acidosis 50 27.676
12
BLD166 Blood Group, Diego System 14 27.442
13
P DST107 Distal Renal Tubular Acidosis 48 26.967
14
BLD153 Blood Group--Swann System 11 24.709
15
BLD151 Blood Group--Wright Antigen 12 23.642
16
NPH003 Nephrocalcinosis 49 22.346
17
MTB004 Metabolic Acidosis 48 19.264
18
P HRD012 Hereditary Elliptocytosis 55 18.378
19
SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 19 17.260
20
DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 47 15.795
21
NPH009 Nephrolithiasis 54 13.732
22
DFC004 Deficiency Anemia 74 13.696
23
P RSP003 Respiratory Failure 74 13.342
24
c HRD219 Hereditary Distal Renal Tubular Acidosis 25 11.518
25
BLD052 Blood Group Incompatibility 31 10.750
26
P KRN004 Kernicterus 46 10.750
27
c ATS494 Autosomal Recessive Distal Renal Tubular Acidosis 37 10.211
28
PRP007 Priapism 47 10.024
29
c BTT014 Beta-Thalassemia 72 9.434
30
PND002 Pendred Syndrome 57 9.434
31
HRD218 Hereditary Stomatocytosis 30 9.352
32
RNL127 Renal Tubular Acidosis, Distal, 3, with or Without Sensorineural Hearing Loss 39 9.064
33
CHR177 Chromophobe Renal Cell Carcinoma 54 7.692
34
c CNG027 Congenital Hemolytic Anemia 48 7.692
35
GLC009 Glucosephosphate Dehydrogenase Deficiency 53 7.260
36
FCH001 Fuchs' Endothelial Dystrophy 50 7.260
37
c ELL005 Elliptocytosis 2 37 6.746
38
c ELL006 Elliptocytosis 3 34 6.746
39
c CTR118 Cataract 14, Multiple Types 40 6.671
40
c BRN131 Branchiootorenal Syndrome 1 45 6.671
41
c OST120 Osteopetrosis, Autosomal Recessive 5 50 6.671
42
c OST163 Osteopetrosis, Autosomal Recessive 3 53 6.671
43
c OST136 Osteopetrosis, Autosomal Recessive 7 50 6.671
44
c OST137 Osteopetrosis, Autosomal Recessive 4 45 6.671
45
c OST134 Osteopetrosis, Autosomal Recessive 6 44 6.671
46
CRN045 Corneal Dystrophy and Perceptive Deafness 44 6.671
47
GLT040 Glutamate-Cysteine Ligase Deficiency 31 6.671
48
RNL021 Renal Tubular Transport Disease 27 6.671
49
RFT001 Rift Valley Fever 48 6.671
50
TTN001 Tetanus Neonatorum 32 6.671
51
HYP005 Hypokalemia 55 5.527
52
RCK004 Rickets 68 4.280
53
ABT001 Abetalipoproteinemia 68 3.065
54
P SNS001 Sensorineural Hearing Loss 59 2.764
55
END057 Endometrial Cancer 72 2.393
56
c BRN108 Branchiootic Syndrome 1 62 2.351
57
SPL018 Splenomegaly 49 2.351
58
OST011 Osteomalacia 52 2.243
59
HMG005 Hemoglobinopathy 56 2.170
60
MNR012 Meniere Disease 56 1.955
61
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 1.955
62
URL001 Urolithiasis 46 1.864
63
P THL005 Thalassemia 56 1.768
64
NPH091 Nephrolithiasis, Calcium Oxalate 61 1.705
65
THR024 Thrombosis 56 1.560
66
PYR040 Pyropoikilocytosis, Hereditary 39 1.560
67
BLD145 Blood Group--Newfoundland 13 1.559
68
P OST001 Osteopetrosis 71 1.517
69
RNL114 Renal Cell Carcinoma, Nonpapillary 80 1.510
70
P SCK005 Sickle Cell Disease 56 1.444
71
OVR093 Overhydrated Hereditary Stomatocytosis 41 1.318
72
CNS004 Constipation 56 1.318
73
P ACT241 Acute Bilirubin Encephalopathy 25 1.316
74
HLX001 Helix Syndrome 48 1.316
75
c CHR098 Chronic Pyelonephritis 34 1.316
76
P PYL005 Pyelonephritis 57 1.316
77
c SYS001 Systemic Lupus Erythematosus 87 1.273
78
P LPS004 Lupus Erythematosus 61 1.273
79
P KDN018 Kidney Disease 72 1.273
80
c ALP101 Alpha-Thalassemia 62 1.179
81
c CHR684 Chronic Kidney Disease 69 1.179
82
c GLL024 Gallbladder Disease 1 52 1.021
83
P RNL115 Renal Tubular Acidosis, Proximal 32 1.021
84
ONC007 Oncocytoma 50 1.021
85
ACT098 Acute Erythroid Leukemia 55 1.021
86
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 1.021
87
c HYP595 Hypertension, Essential 85 1.021
88
P RNL017 Renal Oncocytoma 54 1.021
89
P AML002 Amelogenesis Imperfecta 56 1.021
90
P CNG003 Congenital Dyserythropoietic Anemia 48 1.021
91
P FNC004 Fanconi Syndrome 60 1.021
92
FML035 Familial Hyperlipidemia 55 1.021
93
P SZR006 Seizure Disorder 70 0.834
94
ATM095 Autoimmune Disease 61 0.834
95
STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 30 0.834
96
P THR014 Thrombocytopenia 66 0.834
97
CHL004 Cholelithiasis 49 0.834
98
c PRC016 Pre-Eclampsia 65 0.834
99
c SVR005 Severe Pre-Eclampsia 50 0.834
100
THR100 Thrombocytopenic Purpura, Autoimmune 61 0.726
101
PRP030 Purpura 54 0.726
102
GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 47 0.684
103
HNM002 Hinman Syndrome 27 0.684
104
NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 41 0.684
105
c PNS012 Paine Syndrome 60 0.684
106
P SJG008 Sjogren Syndrome 61 0.684
107
ANR007 Anorexia Nervosa 60 0.684
108
c SYS043 Systemic Lupus Erythematosus 1 38 0.684
109
P OST002 Osteoporosis 76 0.684
110
c OST131 Osteopetrosis, Autosomal Dominant 2 52 0.684
111
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.684
112
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.684
113
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.684
114
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 55 0.684
115
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.684
116
c EPS039 Episodic Pain Syndrome, Familial, 1 42 0.684
117
LWC002 Lowe Oculocerebrorenal Syndrome 68 0.684
118
c GLY060 Glycogen Storage Disease Ia 63 0.684
119
P HYP733 Hypercalciuria, Absorptive, 2 45 0.684
120
ADP007 Adie Pupil 40 0.684
121
BSL009 Basal Ganglia Calcification 45 0.684
122
PST092 Posttransplant Acute Limbic Encephalitis 28 0.684
123
ACT055 Actinomycosis 55 0.684
124
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 0.684
125
P NPH012 Nephrotic Syndrome 60 0.684
126
P GLY013 Glycogen Storage Disease 60 0.684
127
P BRT004 Bartter Disease 58 0.684
128
P ATS364 Autism 69 0.589
129
CLP005 Ciliopathy 41 0.589
130
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.589
131
LTH044 Lutheran Null 11 0.589
132
c ANM038 Anemia, Autoimmune Hemolytic 64 0.589
133
c PLM164 Pulmonary Hypertension, Primary, 1 76 0.589
134
P CLR023 Colorectal Cancer 100 0.589
135
HYD038 Hydrops Fetalis, Nonimmune 59 0.589
136
P APL001 Aplastic Anemia 73 0.589
137
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 0.589
138
MYL009 Myelodysplastic Syndrome 67 0.589
139
c ATS007 Autism Spectrum Disorder 72 0.589
140
SCK003 Sickle Cell Anemia 74 0.589
141
CVT001 Cavitary Optic Disc Anomalies 37 0.589
142
c ALB021 Albinism, Oculocutaneous, Type Ii 59 0.589
143
PYR041 Pyruvate Kinase Deficiency of Red Cells 57 0.589
144
RNL126 Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss 25 0.589
145
GLB001 Gilbert Syndrome 53 0.589
146
DMN031 Dementia, Lewy Body 65 0.589
147
TNG007 Tongue Carcinoma 52 0.589
148
ACS001 Acoustic Neuroma 56 0.589
149
HML054 Hemolytic Disease Due to Fetomaternal Alloimmunization 19 0.589
150
P RRH023 Rare Hereditary Hemochromatosis 54 0.589
151
P CTR002 Cataract 60 0.589
153
c CFF016 Coffin-Siris Syndrome 11 21 0.589
154
TCK001 Tick-Borne Encephalitis 59 0.589
155
P DMN002 Dementia 66 0.589
156
HMS001 Hemosiderosis 48 0.589
157
P MLN007 Male Infertility 56 0.589
158
c SCN007 Secondary Hyperparathyroidism 51 0.589
159
PRM236 Primary Biliary Cholangitis 60 0.589
160
BLR008 Bilirubin Metabolic Disorder 57 0.589
161
P HYP069 Hyperparathyroidism 62 0.589
162
P NPH005 Nephronophthisis 56 0.589
163
MGL001 Megaloblastic Anemia 58 0.589
164
IRN001 Iron Deficiency Anemia 58 0.589
165
P BND020 Bone Disease 59 0.589
166
P PSD003 Pseudohypoaldosteronism 44 0.589
167
ISC004 Ischemia 61 0.589
168
P CRN025 Corneal Dystrophy 49 0.589
169
NRL005 Neurilemmoma 60 0.589
170
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 60 0.589
171
PLS006 Plasmodium Vivax Malaria 51 0.589
172
P DRR001 Diarrhea 55 0.589
173
IRN002 Iron Metabolism Disease 57 0.589
174
P ENC004 Encephalitis 61 0.589
175
MNG006 Monogenic Diabetes 44 0.589
177
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 39 0.589
178
AMN006 Aminoaciduria 37 0.589
179
P BRS047 Breast Cancer 98 0.573
180
P PNC035 Pancreatic Cancer 86 0.573
181
P LKM062 Leukemia, Acute Lymphoblastic 69 0.573
182
c NRB010 Neuroblastoma 1 59 0.469
183
P ALZ034 Alzheimer Disease 87 0.332
184
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.332
185
P PRS040 Prostate Cancer 95 0.332
186
DNG003 Dengue Disease 65 0.332
187
DNG002 Dengue Hemorrhagic Fever 60 0.332
Content
Loading form....