Search results for PCBD1

45 hits were found for PCBD1

# Family MCID Name MIFTS Score
1
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 32 45.352
2
TTR005 Tetrahydrobiopterin Deficiency 49 31.351
3
HYP141 Hyperphenylalaninemia 42 18.972
4
c TYP009 Type 2 Diabetes Mellitus 91 15.069
5
P MTR004 Maturity-Onset Diabetes of the Young 66 12.127
6
PHN003 Phenylketonuria 76 12.127
7
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 10.655
8
ATS010 Autosomal Recessive Disease 42 10.655
9
P DYS154 Dystonia 64 10.655
10
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 59 8.743
11
CYS019 Cystathioninuria 46 7.534
12
c KNN009 Kenny-Caffey Syndrome, Type 1 35 7.534
13
PNT006 Pentosuria 35 7.534
14
c BRT052 Bartter Syndrome, Type 1, Antenatal 43 7.534
15
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 57 7.534
16
RNL051 Renal Cysts and Diabetes Syndrome 58 7.534
17
c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54 7.534
18
P BRT004 Bartter Disease 58 7.534
19
MLD011 Mild Hyperphenylalaninemia 24 7.534
20
P OVR042 Ovarian Cancer 88 0.551
21
P BRS047 Breast Cancer 97 0.551
22
P PNC035 Pancreatic Cancer 87 0.551
23
MYL005 Myelofibrosis 70 0.551
24
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 59 0.521
25
c CLR087 Colorectal Cancer 12 34 0.521
26
GST103 Gastric Cancer, Hereditary Diffuse 68 0.521
27
SML009 Small Intestine Adenocarcinoma 57 0.521
28
PLY028 Polycystic Bone Disease 17 0.464
29
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.268
30
GTL001 Gitelman Syndrome 65 0.189
31
P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45 0.189
32
P RNL100 Renal Hypodysplasia/aplasia 1 63 0.189
33
c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 35 0.189
34
c PSD093 Pseudohypoaldosteronism, Type Iid 31 0.189
35
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.189
36
KRN002 Kearns-Sayre Syndrome 62 0.189
37
P CYS039 Cystic Kidney Disease 52 0.189
38
HYP014 Hyperuricemia 51 0.189
39
CLR030 Clear Cell Renal Cell Carcinoma 53 0.189
40
RNL025 Renal Hypoplasia 46 0.189
41
HYP005 Hypokalemia 55 0.189
42
HYP066 Hyperglycemia 60 0.189
43
GT001 Gout 63 0.189
44
P CTR002 Cataract 59 0.189
45
c BRT024 Bartter Syndrome Type 4 25 0.189
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