# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
ARM002 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
52 |
20.071 |
|
2 |
|
c
|
HYP595 |
Hypertension, Essential |
84 |
3.245 |
|
3 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
78 |
3.245 |
|
4 |
|
P
|
SCH015 |
Schizophrenia |
74 |
3.245 |
|
5 |
|
P
|
PHC003 |
Pheochromocytoma |
71 |
3.245 |
|
6 |
|
c
|
ATM011 |
Autoimmune Hepatitis |
63 |
3.245 |
|
7 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
3.245 |
|
8 |
|
P
|
ATS364 |
Autism |
70 |
2.686 |
|
9 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
67 |
2.686 |
|
10 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
65 |
2.686 |
|
11 |
|
P
|
PRS038 |
Personality Disorder |
65 |
2.650 |
|
12 |
|
c
|
DBT099 |
Diabetes Mellitus, Type I |
65 |
2.650 |
|
13 |
|
|
HYP780 |
Hypoadrenocorticism, Familial |
63 |
2.650 |
|
14 |
|
P
|
MVM001 |
Movement Disease |
63 |
2.650 |
|
15 |
|
P
|
VTL004 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
60 |
2.650 |
|
16 |
|
P
|
PTS002 |
Ptosis |
53 |
2.650 |
|
17 |
|
|
DPM001 |
Dopamine Beta-Hydroxylase Deficiency |
47 |
2.650 |
|
18 |
|
P
|
ATM019 |
Autoimmune Polyendocrine Syndrome |
46 |
2.650 |
|
19 |
|
c
|
ATM002 |
Autoimmune Polyendocrine Syndrome Type 1 |
39 |
2.650 |
|
20 |
|
|
ATM096 |
Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia |
65 |
1.874 |
|
21 |
|
|
CNV004 |
Canavan Disease |
61 |
1.874 |
|
22 |
|
|
PRT058 |
Pure Autonomic Failure |
59 |
1.874 |
|
23 |
|
|
PYR021 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
47 |
1.874 |
|
24 |
|
|
SPR008 |
Supratentorial Primitive Neuroectodermal Tumor |
43 |
1.874 |
|
25 |
|
|
OCL066 |
Oculogyric Crisis |
38 |
1.874 |
|
26 |
|
|
HMN044 |
Human Immunodeficiency Virus Type 1 |
71 |
0.345 |
|
27 |
|
|
IMM167 |
Immune Deficiency Disease |
78 |
0.315 |
|
28 |
|
|
ACQ007 |
Acquired Immunodeficiency Syndrome |
60 |
0.315 |
|
29 |
|
|
HMN014 |
Human Immunodeficiency Virus Infectious Disease |
55 |
0.315 |
|
30 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
0.163 |
|
31 |
|
P
|
NRP001 |
Neuropathy |
56 |
0.163 |
|
32 |
|
c
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
0.152 |
|
33 |
|
P
|
PRP029 |
Porphyria |
62 |
0.128 |
|
34 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
0.115 |
|
35 |
|
P
|
LVR013 |
Liver Disease |
68 |
0.115 |
|
36 |
|
|
ALC006 |
Alcoholic Hepatitis |
61 |
0.115 |
|
37 |
|
|
HYP266 |
Hypoxia |
57 |
0.115 |
|
38 |
|
|
PLS009 |
Plasma Cell Neoplasm |
51 |
0.115 |
|
39 |
|
P
|
LYM118 |
Lymphoma |
68 |
0.100 |
|
40 |
|
P
|
PNM007 |
Pneumonia |
68 |
0.100 |
|
41 |
|
|
PNM001 |
Pneumocystosis |
59 |
0.100 |
|
42 |
|
|
SNS003 |
Sensory Peripheral Neuropathy |
54 |
0.100 |
|
43 |
|
|
48X005 |
48,xyyy |
39 |
0.100 |
|
44 |
|
P
|
MYP004 |
Myopathy |
70 |
0.081 |
|
45 |
|
P
|
DYS154 |
Dystonia |
65 |
0.081 |
|
46 |
|
P
|
HRP006 |
Herpes Simplex |
65 |
0.081 |
|
47 |
|
|
TBC004 |
Tobacco Addiction |
64 |
0.081 |
|
48 |
|
P
|
PNC044 |
Pancreatitis |
61 |
0.081 |
|
49 |
|
c
|
ACT027 |
Acute Pancreatitis |
60 |
0.081 |
|
50 |
|
|
AMN003 |
Amnestic Disorder |
54 |
0.081 |
|
51 |
|
|
TXC002 |
Toxic Encephalopathy |
53 |
0.081 |
|
52 |
|
P
|
SMK004 |
Smoking As a Quantitative Trait Locus 3 |
44 |
0.081 |
|
53 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.081 |
|
54 |
|
|
OCC001 |
Occupational Dermatitis |
29 |
0.081 |
|
55 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.057 |
|
56 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.057 |
|
57 |
|
|
MLR004 |
Malaria |
81 |
0.057 |
|
58 |
|
|
KPS004 |
Kaposi Sarcoma |
75 |
0.057 |
|
59 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.057 |
|
60 |
|
c
|
CHR684 |
Chronic Kidney Disease |
70 |
0.057 |
|
61 |
|
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
0.057 |
|
62 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.057 |
|
63 |
|
|
FCT007 |
Factor Vii Deficiency |
67 |
0.057 |
|
64 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.057 |
|
65 |
|
|
SRC014 |
Sarcoma |
65 |
0.057 |
|
66 |
|
|
MND021 |
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome |
65 |
0.057 |
|
67 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.057 |
|
68 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.057 |
|
69 |
|
P
|
PLY014 |
Polycystic Kidney Disease |
62 |
0.057 |
|
70 |
|
|
LVR012 |
Liver Cirrhosis |
62 |
0.057 |
|
71 |
|
|
NNL005 |
Non-Alcoholic Fatty Liver Disease |
61 |
0.057 |
|
72 |
|
|
FTT001 |
Fatty Liver Disease |
61 |
0.057 |
|
73 |
|
P
|
TXP001 |
Toxoplasmosis |
60 |
0.057 |
|
74 |
|
P
|
THL005 |
Thalassemia |
60 |
0.057 |
|
75 |
|
|
INC002 |
Inclusion Body Myositis |
58 |
0.057 |
|
76 |
|
|
ERY003 |
Erythema Multiforme |
58 |
0.057 |
|
77 |
|
|
CHR177 |
Chromophobe Renal Cell Carcinoma |
57 |
0.057 |
|
78 |
|
P
|
MYS005 |
Myositis |
56 |
0.057 |
|
79 |
|
P
|
FBR017 |
Fibrosarcoma |
56 |
0.057 |
|
80 |
|
|
SFT003 |
Soft Tissue Sarcoma |
56 |
0.057 |
|
81 |
|
|
VRG001 |
Variegate Porphyria |
56 |
0.057 |
|
82 |
|
|
HMG005 |
Hemoglobinopathy |
56 |
0.057 |
|
83 |
|
P
|
PLY019 |
Polyneuropathy |
56 |
0.057 |
|
84 |
|
P
|
DRR001 |
Diarrhea |
55 |
0.057 |
|
85 |
|
|
NNL006 |
Non-Alcoholic Steatohepatitis |
54 |
0.057 |
|
86 |
|
P
|
RNL017 |
Renal Oncocytoma |
53 |
0.057 |
|
87 |
|
|
SPN035 |
Spindle Cell Sarcoma |
53 |
0.057 |
|
88 |
|
P
|
SLV027 |
Silver-Russell Syndrome 1 |
53 |
0.057 |
|
89 |
|
P
|
CHL066 |
Cholangitis |
51 |
0.057 |
|
90 |
|
|
PRN009 |
Paranoid Schizophrenia |
50 |
0.057 |
|
91 |
|
P
|
MTC133 |
Mitochondrial Myopathy |
49 |
0.057 |
|
92 |
|
|
CCN001 |
Cocaine Dependence |
48 |
0.057 |
|
93 |
|
P
|
SCL009 |
Sclerosing Cholangitis |
48 |
0.057 |
|
94 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.057 |
|
95 |
|
|
MCR018 |
Microcytic Anemia |
47 |
0.057 |
|
96 |
|
P
|
RNL015 |
Renal Hypertension |
47 |
0.057 |
|
97 |
|
P
|
HMN032 |
Human Herpesvirus 8 |
47 |
0.057 |
|
98 |
|
|
RTR001 |
Retrograde Amnesia |
44 |
0.057 |
|
99 |
|
|
GRN017 |
Granulocytopenia |
44 |
0.057 |
|
100 |
|
c
|
PCH010 |
Pachyonychia Congenita 3 |
44 |
0.057 |
|
101 |
|
|
MCR017 |
Macrocytic Anemia |
44 |
0.057 |
|
102 |
|
|
HMP009 |
Haemophilus Influenzae |
43 |
0.057 |
|
103 |
|
|
ATX019 |
Ataxia with Vitamin E Deficiency |
42 |
0.057 |
|
104 |
|
P
|
SYN057 |
Syndromic Intellectual Disability |
41 |
0.057 |
|
105 |
|
P
|
MLG074 |
Malignant Mesenchymoma |
40 |
0.057 |
|
106 |
|
|
HYP264 |
Hypertonia |
38 |
0.057 |
|
107 |
|
|
DNC004 |
Diencephalic Syndrome |
36 |
0.057 |
|
108 |
|
P
|
AXN001 |
Axonal Neuropathy |
36 |
0.057 |
|
109 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
34 |
0.057 |
|
110 |
|
|
ATH004 |
Athetosis |
28 |
0.057 |
|
111 |
|
P
|
OVR096 |
Overlap Myositis |
27 |
0.057 |
|
112 |
|
|
THY006 |
Thymus Lymphoma |
26 |
0.057 |
|
113 |
|
|
PPL061 |
Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome |
25 |
0.057 |
|