Search results for hnf1b

136 hits were found for hnf1b

# Family MCID Name MIFTS Score
2
RNL051 Renal Cysts and Diabetes Syndrome 55 6.526
3
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 90 3.926
4
P DBT009 Diabetes Mellitus 64 3.796
5
P PRS040 Prostate Cancer 97 3.522
6
RNL114 Renal Cell Carcinoma, Nonpapillary 78 3.244
7
P MTR004 Maturity-Onset Diabetes of the Young 65 3.233
8
P OVR042 Ovarian Cancer 88 3.225
9
P KDN018 Kidney Disease 72 2.917
10
CHR177 Chromophobe Renal Cell Carcinoma 57 2.917
11
P CYS039 Cystic Kidney Disease 54 2.917
12
CHL068 Cholestasis 61 2.586
13
c CHR684 Chronic Kidney Disease 70 2.547
14
P END044 Endometriosis 63 2.448
15
P NNT009 Neonatal Diabetes Mellitus 50 2.448
16
MNG006 Monogenic Diabetes 46 2.342
17
CKT002 Cakut 48 2.152
18
CHR501 Chromosome 17q12 Deletion Syndrome 36 2.133
19
c HYP529 Hyperuricemic Nephropathy, Familial Juvenile, 3 17 2.133
20
c PRS117 Prostate Cancer, Hereditary, 11 24 2.088
21
RNL078 Renal Dysplasia 50 2.063
22
DDN011 Duodenal Atresia 50 2.033
23
BLR001 Biliary Atresia 50 2.033
24
PLY012 Polyhydramnios 46 2.033
25
c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66 1.999
26
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 1.999
27
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 64 1.999
28
P PLY014 Polycystic Kidney Disease 62 1.999
29
RNL024 Renal Glucosuria 58 1.999
30
PRN038 Prune Belly Syndrome 56 1.999
31
CLR003 Clear Cell Adenocarcinoma 50 1.999
32
P UTR058 Uterine Anomalies 47 1.999
33
P OVR106 Ovarian Clear Cell Carcinoma 44 1.999
34
P HYP758 Hyperuricemic Nephropathy, Familial Juvenile, 1 43 1.999
35
OVR034 Ovarian Clear Cell Adenocarcinoma 38 1.999
36
HRS011 Horseshoe Kidney 34 1.999
37
OLG021 Oligomeganephronia 33 1.999
38
17Q009 17q12 Recurrent Deletion Syndrome 18 1.681
39
c RRD013 Rare Diabetes Mellitus Type 2 31 1.612
40
c HYP210 Hypomagnesemia 2, Renal 43 1.592
41
CHR502 Chromosome 17q12 Duplication Syndrome 37 1.547
42
RNL025 Renal Hypoplasia 42 1.522
43
P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 30 1.493
44
BCR002 Bicornuate Uterus 24 1.493
45
UNL014 Unilateral Multicystic Dysplastic Kidney 18 1.493
46
P RNL100 Renal Hypodysplasia/aplasia 1 63 1.458
47
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62 1.458
48
PPL048 Papillorenal Syndrome 58 1.458
49
c MTR020 Maturity-Onset Diabetes of the Young, Type 3 55 1.458
50
OLG003 Oligohydramnios 51 1.458
51
P PNC045 Pancreatic Agenesis 37 1.458
52
BLT020 Bilateral Multicystic Dysplastic Kidney 15 1.458
53
P ALG028 Alagille Syndrome 1 73 1.414
54
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 1.414
55
P NPH005 Nephronophthisis 59 1.414
56
MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 58 1.414
57
c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 57 1.414
58
PLY023 Polycystic Liver Disease 57 1.414
59
P TWN003 Townes-Brocks Syndrome 55 1.414
60
c MTR019 Maturity-Onset Diabetes of the Young, Type 2 55 1.414
61
BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 54 1.414
62
END002 Endometrioid Ovary Carcinoma 53 1.414
63
OVR059 Ovary Adenocarcinoma 53 1.414
64
P BRN006 Branchiootorenal Syndrome 46 1.414
65
c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44 1.414
66
c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41 1.414
67
MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 41 1.414
68
c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40 1.414
69
END011 Endometriosis of Ovary 39 1.414
70
KRK001 Krukenberg Carcinoma 39 1.414
71
CRL004 Caroli Disease 39 1.414
72
c MTR026 Maturity-Onset Diabetes of the Young, Type 9 36 1.414
73
END032 Endometrial Clear Cell Adenocarcinoma 35 1.414
74
OVR026 Ovary Transitional Cell Carcinoma 32 1.414
75
FLL003 Fallopian Tube Endometrioid Adenocarcinoma 32 1.414
76
RRG011 Rare Genetic Diabetes Mellitus 23 0.217
77
END086 End Stage Renal Disease 51 0.133
78
HYP014 Hyperuricemia 52 0.121
79
END057 Endometrial Cancer 74 0.108
80
P ATS364 Autism 70 0.094
81
GST033 Gestational Diabetes 61 0.094
82
c ATS007 Autism Spectrum Disorder 67 0.077
83
HYD002 Hydronephrosis 60 0.077
84
ADN018 Adenoma 59 0.077
85
HYP005 Hypokalemia 55 0.077
86
P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 52 0.077
87
c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 33 0.077
88
MYL069 Myeloma, Multiple 85 0.054
89
NRL016 Neural Tube Defects 82 0.054
90
P SCH015 Schizophrenia 74 0.054
91
SVR004 Severe Combined Immunodeficiency 73 0.054
92
c THR092 Thrombophilia Due to Thrombin Defect 73 0.054
93
P LVR013 Liver Disease 68 0.054
94
RCK004 Rickets 68 0.054
95
c PRM196 Premature Ovarian Failure 1 67 0.054
96
P MCR115 Microvascular Complications of Diabetes 5 66 0.054
97
GTL001 Gitelman Syndrome 65 0.054
98
c DBT099 Diabetes Mellitus, Type I 65 0.054
99
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.054
100
CLR108 Colorectal Adenoma 64 0.054
101
P ADN016 Adenocarcinoma 64 0.054
102
P HYP069 Hyperparathyroidism 63 0.054
103
HYP066 Hyperglycemia 61 0.054
104
FTT001 Fatty Liver Disease 61 0.054
105
P PNC044 Pancreatitis 61 0.054
106
P CTR002 Cataract 60 0.054
107
THR024 Thrombosis 57 0.054
108
BLR008 Bilirubin Metabolic Disorder 57 0.054
109
ISL001 Islet Cell Tumor 56 0.054
110
NRN004 Neuroendocrine Tumor 55 0.054
111
GLC003 Glucose Intolerance 54 0.054
112
c MCR113 Microvascular Complications of Diabetes 3 52 0.054
113
P FNC004 Fanconi Syndrome 50 0.054
114
VTR016 Vater/vacterl Association 50 0.054
115
PCT003 Pectus Excavatum 49 0.054
116
47X002 47,xyy 49 0.054
117
BKR002 Baker-Gordon Syndrome 49 0.054
118
SPL018 Splenomegaly 48 0.054
119
c MCR120 Microvascular Complications of Diabetes 7 47 0.054
120
P LPM005 Lipomatosis 46 0.054
121
c DBT103 Diabetes Mellitus, Permanent Neonatal 4 46 0.054
122
CLP005 Ciliopathy 43 0.054
123
PRM237 Primary Hypomagnesemia 43 0.054
124
EXC002 Exocrine Pancreatic Insufficiency 42 0.054
125
MLT084 Multicystic Dysplastic Kidney 42 0.054
126
c PST041 Posterior Urethral Valves 41 0.054
127
c MCR130 Microvascular Complications of Diabetes 6 41 0.054
128
c MCR133 Microvascular Complications of Diabetes 4 41 0.054
129
ISL151 Isolated Elevated Serum Creatine Phosphokinase Levels 40 0.054
130
P FNC034 Fanconi Renotubular Syndrome 2 40 0.054
131
SPN221 Spina Bifida Occulta 39 0.054
132
c FNC026 Fanconi Renotubular Syndrome 1 39 0.054
133
CRT045 Creatine Phosphokinase, Elevated Serum 39 0.054
134
OVR094 Ovarian Epithelial Cancer 38 0.054
135
PCT001 Pectus Carinatum 35 0.054
136
CHR210 Chromosome 17q Duplication 12 0.054
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