Search results for acvrl1

154 hits were found for acvrl1

# Family MCID Name MIFTS Score
1
c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 45 73.045
2
P HRD008 Hereditary Hemorrhagic Telangiectasia 64 67.914
3
c PLM164 Pulmonary Hypertension, Primary, 1 75 62.805
4
IDP092 Idiopathic/heritable Pulmonary Arterial Hypertension 44 38.137
5
c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 56 23.865
6
P PLM037 Pulmonary Hypertension 69 18.745
7
P ART005 Arteriovenous Malformation 64 18.317
8
TLN003 Telangiectasis 51 18.311
9
HRT015 Heritable Pulmonary Arterial Hypertension 46 16.984
10
P THR014 Thrombocytopenia 66 14.169
11
P VSC007 Vascular Disease 62 12.976
12
P HRT032 Heart Disease 84 12.331
13
P HMR003 Hemorrhagic Disease 59 11.978
14
P ANP001 Anaplastic Large Cell Lymphoma 59 11.938
15
CNN005 Connective Tissue Disease 66 11.938
16
MXD005 Mixed Connective Tissue Disease 57 11.938
17
WBR001 Weber Syndrome 38 11.073
18
ART141 Arteriovenous Malformations of the Brain 58 10.004
19
HPT009 Hepatopulmonary Syndrome 48 10.004
20
ANG011 Angiodysplasia 42 9.957
21
INF058 Inflammatory Myofibroblastic Tumor 45 9.748
22
PLM052 Pulmonary Arteriovenous Malformation 43 8.503
23
P JVN014 Juvenile Polyposis Syndrome 65 8.271
24
JVN012 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 49 8.227
25
P PLM025 Pulmonary Venoocclusive Disease 44 7.312
26
ACT058 Active Peptic Ulcer Disease 55 7.224
27
P LYS001 Loeys-Dietz Syndrome 65 7.149
28
CRD007 Cardiovascular Organ Benign Neoplasm 28 6.893
29
CLL012 Cell Type Benign Neoplasm 23 6.893
30
c BRC079 Brachydactyly, Type A2 51 6.893
31
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 6.893
32
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 65 6.893
33
PRP027 Peripheral Vascular Disease 71 6.893
34
VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 46 6.893
35
CHR096 Chronic Pulmonary Heart Disease 41 6.893
36
CST005 Castleman Disease 56 6.893
37
PLM022 Pulmonary Valve Insufficiency 45 6.893
38
SPL005 Splenic Artery Aneurysm 26 6.893
39
IRN002 Iron Metabolism Disease 56 1.307
40
c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21 1.221
41
GNR035 Generalized Juvenile Polyposis/juvenile Polyposis Coli 43 1.201
42
P CLR023 Colorectal Cancer 100 1.125
43
INT030 Intracranial Aneurysm 55 1.125
44
ANR040 Aneurysm 60 1.096
45
P BRS047 Breast Cancer 97 1.044
46
P ALZ034 Alzheimer Disease 87 1.036
47
c HYP595 Hypertension, Essential 84 1.029
48
ALL014 Allergic Encephalomyelitis 34 1.029
49
VNF001 Vein of Galen Aneurysm 18 1.029
50
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.989
51
LVR012 Liver Cirrhosis 62 0.989
52
P ADL010 Adult Respiratory Distress Syndrome 70 0.989
53
BRN056 Bronchopulmonary Dysplasia 57 0.989
54
LNG099 Lung Disease 62 0.989
55
FBR011 Fibrodysplasia Ossificans Progressiva 67 0.942
56
P ECL001 Eclampsia 52 0.881
57
c PRC016 Pre-Eclampsia 64 0.881
58
P PLM069 Pulmonary Venous Return Anomaly 29 0.881
60
P AMY004 Amyloidosis 69 0.733
61
c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 18 0.679
62
P PRS040 Prostate Cancer 95 0.517
63
P PNC035 Pancreatic Cancer 87 0.517
64
ADN011 Adenoid Cystic Carcinoma 68 0.517
65
CLL010 Cellular Ependymoma 58 0.517
66
P MLN008 Melanoma 75 0.517
67
CYN002 Cyanosis, Transient Neonatal 43 0.469
68
P LTH050 Lethal Chondrodysplasia 14 0.445
69
RRV009 Rare Vascular Disease 13 0.445
70
DFC004 Deficiency Anemia 74 0.392
71
HPT046 Hepatic Veno-Occlusive Disease 54 0.392
72
IRN001 Iron Deficiency Anemia 58 0.392
73
c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 43 0.363
74
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 0.363
75
P TMR010 Tumor Predisposition Syndrome 69 0.363
76
INH023 Inherited Cancer-Predisposing Syndrome 53 0.363
77
P CPL014 Capillary Malformation-Arteriovenous Malformation 1 53 0.331
78
CNG034 Congestive Heart Failure 69 0.331
79
TRN015 Transient Cerebral Ischemia 62 0.296
80
PRT013 Portal Hypertension 59 0.296
81
PLM184 Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 42 0.296
82
P OVR082 Overgrowth Syndrome 41 0.296
83
SCK003 Sickle Cell Anemia 74 0.257
84
PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 37 0.257
85
c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 38 0.257
86
c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 25 0.257
87
MRF001 Marfan Syndrome 76 0.257
88
ART017 Aortic Disease 49 0.257
89
TRC022 Tricuspid Valve Insufficiency 46 0.257
90
P SCK005 Sickle Cell Disease 56 0.257
91
CHR466 Chronic Thromboembolic Pulmonary Hypertension 47 0.257
92
PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 25 0.257
93
DWN001 Down Syndrome 70 0.210
94
P NNN008 Noonan Syndrome 1 76 0.210
95
P ATX030 Ataxia-Telangiectasia 80 0.210
96
ISC020 Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 53 0.210
97
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.210
98
ANG065 Angioma, Tufted 36 0.210
99
THY006 Thymus Lymphoma 27 0.210
100
ADN018 Adenoma 58 0.210
101
P MTR003 Mitral Valve Stenosis 53 0.210
102
PLM033 Pulmonary Embolism 58 0.210
103
CHR178 Chromosomal Triplication 33 0.210
104
c PSD047 Pseudo-Turner Syndrome 52 0.210
105
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.148
106
CPL015 Capillary Malformation-Arteriovenous Malformation 2 30 0.148
107
PRT251 Proteinuria, Chronic Benign 58 0.148
108
c MGR028 Migraine with or Without Aura 1 63 0.148
109
P RTN024 Retinoblastoma 72 0.148
110
FCT001 Factor Viii Deficiency 61 0.148
111
P URC014 Uric Acid Concentration, Serum, Quantitative Trait Locus 1 20 0.148
112
P BLD134 Bladder Cancer 79 0.148
113
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.148
114
ATS010 Autosomal Recessive Disease 42 0.148
115
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.148
116
P GST053 Gastric Cancer 82 0.148
117
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.148
118
c HMP029 Hemophilia a 69 0.148
119
IMM167 Immune Deficiency Disease 76 0.148
120
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.148
121
P ORT004 Orthostatic Intolerance 61 0.148
122
PRK005 Prekallikrein Deficiency 30 0.148
123
P LNG064 Lung Cancer Susceptibility 3 69 0.148
124
c ACQ010 Acquired Polycythemia 45 0.148
125
P HMN010 Hemangioma 61 0.148
126
RTN020 Retinal Vascular Disease 45 0.148
127
SQM006 Squamous Cell Carcinoma 59 0.148
128
CHL068 Cholestasis 61 0.148
129
CLR030 Clear Cell Renal Cell Carcinoma 53 0.148
130
P PRP019 Peripheral Nervous System Disease 57 0.148
131
P PRR002 Pure Red-Cell Aplasia 46 0.148
132
P CPL006 Capillary Hemangioma 53 0.148
133
INT010 Intracranial Embolism 48 0.148
134
P PLM036 Pulmonary Fibrosis 65 0.148
135
LNG039 Lung Squamous Cell Carcinoma 57 0.148
136
INT066 Interstitial Lung Disease 60 0.148
137
P OPN001 Open-Angle Glaucoma 55 0.148
138
P VNW001 Von Willebrand's Disease 64 0.148
139
DFF039 Diffuse Midline Glioma, H3 K27m-Mutant 47 0.148
140
GT001 Gout 63 0.148
141
P ART018 Aortic Valve Insufficiency 52 0.148
142
PLY024 Polymicrogyria 48 0.148
143
P NRB001 Neuroblastoma 66 0.148
144
PRT036 Peritonitis 65 0.148
145
P PLY018 Polycythemia 56 0.148
146
OST012 Osteoarthritis 77 0.148
147
P CHL066 Cholangitis 51 0.148
148
P NRP001 Neuropathy 59 0.148
149
P LPS004 Lupus Erythematosus 61 0.148
150
CRH001 Crohn's Disease 80 0.148
151
P HYP055 Hypoplastic Left Heart Syndrome 65 0.148
152
P HMP007 Hemophilia 52 0.148
153
47X002 47,xyy 47 0.148
154
SNG003 Single Ventricular Heart 30 0.148
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