Search results for pkd1

122 hits were found for pkd1

# Family MCID Name MIFTS Score
1
c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66 22.542
2
P KDN018 Kidney Disease 72 6.122
3
P PLY014 Polycystic Kidney Disease 62 5.982
4
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 5.472
5
PLY023 Polycystic Liver Disease 57 3.706
6
P LVR013 Liver Disease 68 3.660
7
P CYS039 Cystic Kidney Disease 54 3.648
8
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 64 3.534
9
P TBR001 Tuberous Sclerosis 70 3.487
10
c CHR684 Chronic Kidney Disease 70 3.048
11
c HYP595 Hypertension, Essential 84 3.032
12
INT030 Intracranial Aneurysm 56 2.892
13
CRL004 Caroli Disease 39 2.865
14
MRF001 Marfan Syndrome 77 2.835
15
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 2.734
16
END086 End Stage Renal Disease 51 2.700
17
c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 42 2.595
18
c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 57 2.432
19
RNL094 Renal Dysplasia, Cystic 42 2.408
20
P NPH005 Nephronophthisis 59 2.351
21
c NPH019 Nephronophthisis 1 50 2.351
22
VNH007 Von Hippel-Lindau Syndrome 73 2.315
23
P JBR020 Joubert Syndrome 1 72 2.315
24
P ALP004 Alport Syndrome 68 2.315
25
P BRD002 Bardet-Biedl Syndrome 66 2.315
26
RNL078 Renal Dysplasia 50 2.315
27
STT007 Steatocystoma Multiplex 46 2.315
28
DYS018 Dysostosis 44 2.315
29
MLT084 Multicystic Dysplastic Kidney 42 1.802
30
CLB002 Clubfoot 51 1.777
31
PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 22 1.777
32
P RNV001 Renovascular Hypertension 48 1.720
33
P ORT004 Orthostatic Intolerance 62 1.684
34
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 1.684
35
P CNG048 Congenital Hepatic Fibrosis 38 1.684
36
P RTN008 Retinitis Pigmentosa 79 1.637
37
P PRM011 Primary Ciliary Dyskinesia 69 1.637
38
P MCK013 Meckel Syndrome, Type 1 65 1.637
39
P VSC013 Visceral Heterotaxy 52 1.637
40
c NPH030 Nephronophthisis 2 50 1.637
41
KRT010 Kartagener Syndrome 50 1.637
42
P INT260 Intracranial Berry Aneurysm 39 1.637
43
c DFN108 Deafness, Autosomal Recessive 77 36 1.637
44
CRB031 Cerebral Arterial Disease 33 1.637
45
ACR017 Acrofacial Dysostosis 31 1.637
46
c ATS009 Autosomal Genetic Disease 25 1.637
47
c TBR026 Tuberous Sclerosis 2 72 0.127
48
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 0.114
49
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 43 0.114
50
c TBR025 Tuberous Sclerosis 1 77 0.099
51
PLY012 Polyhydramnios 46 0.099
52
CRB086 Cerebral Aneurysms 40 0.099
53
THY020 Thyroid Hyalinizing Trabecular Adenoma 21 0.099
54
GST040 Gastric Adenocarcinoma 70 0.081
55
CRB039 Cerebrovascular Disease 67 0.081
56
HYD038 Hydrops Fetalis, Nonimmune 62 0.081
57
BRS099 Breast Ductal Carcinoma 62 0.081
58
P HMN010 Hemangioma 61 0.081
59
PTN001 Patent Foramen Ovale 60 0.081
60
VSL002 Visual Epilepsy 59 0.081
61
ANR040 Aneurysm 59 0.081
62
P INF032 Infertility 57 0.081
63
P MLN007 Male Infertility 55 0.081
64
NPH009 Nephrolithiasis 55 0.081
65
P NLD001 Nail Disease 54 0.081
66
RNL077 Renal Fibrosis 47 0.081
67
ANG018 Angiomyolipoma 46 0.081
68
CLP005 Ciliopathy 43 0.081
69
ISL151 Isolated Elevated Serum Creatine Phosphokinase Levels 40 0.081
70
CRT045 Creatine Phosphokinase, Elevated Serum 39 0.081
71
P LNG032 Lung Cancer 98 0.057
72
P BRS047 Breast Cancer 97 0.057
73
P PNC035 Pancreatic Cancer 84 0.057
74
P ATX030 Ataxia-Telangiectasia 82 0.057
75
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.057
76
END057 Endometrial Cancer 74 0.057
77
P HNT016 Huntington Disease 72 0.057
78
ACR007 Acromegaly 71 0.057
79
P CRB048 Cerebral Cavernous Malformations 67 0.057
80
OST159 Osteogenic Sarcoma 66 0.057
81
P HYD006 Hydrocephalus 66 0.057
82
c SML038 Small Cell Cancer of the Lung 65 0.057
83
P PSD087 Pseudoxanthoma Elasticum 65 0.057
84
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.057
85
P NRN021 Neuronal Ceroid Lipofuscinosis 64 0.057
86
P VSC007 Vascular Disease 63 0.057
87
P DST002 Distal Arthrogryposis 63 0.057
88
P EPL140 Epilepsy, Idiopathic Generalized 62 0.057
89
c ART144 Arthrogryposis, Distal, Type 1a 61 0.057
90
NRL005 Neurilemmoma 60 0.057
91
P TST021 Testicular Germ Cell Tumor 60 0.057
92
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.057
93
CHL014 Cholera 59 0.057
94
ADN018 Adenoma 59 0.057
95
ISC004 Ischemia 58 0.057
96
P BCL017 B-Cell Lymphoma 58 0.057
97
P PTT006 Pituitary Adenoma 55 0.057
98
TLN003 Telangiectasis 52 0.057
99
OLG003 Oligohydramnios 51 0.057
100
ALK024 Alkuraya-Kucinskas Syndrome 51 0.057
101
AZS001 Azoospermia 50 0.057
102
HMM003 Hemimegalencephaly 48 0.057
103
c CRB191 Cerebral Cavernous Malformations 2 47 0.057
104
TST014 Testicular Cancer 46 0.057
105
CRB004 Cerebral Artery Occlusion 45 0.057
106
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.057
107
P HYP761 Hypouricemia, Renal, 1 44 0.057
108
P TST026 Testicular Germ Cell Cancer 43 0.057
109
c CRB094 Cerebral Cavernous Malformations 3 42 0.057
110
48X005 48,xyyy 39 0.057
111
GRM010 Germ Cells Tumors 34 0.057
112
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.057
113
TQP001 Taqi Polymorphism 32 0.057
114
c HYP708 Hyperaldosteronism, Familial, Type Iv 30 0.057
115
CVR010 Cavernous Malformation 30 0.057
116
CHR524 Chromosome 16p13.3 Duplication Syndrome 29 0.057
117
PST092 Posttransplant Acute Limbic Encephalitis 29 0.057
118
CNG506 Congenital Amyoplasia 27 0.057
119
ARG004 Argyria 27 0.057
120
HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 26 0.057
121
c PLY141 Polycystic Kidney Disease 5 24 0.057
122
c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 22 0.057
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