Homo sapiens

103 known processes

SAMHD1

SAM domain and HD domain 1

(Aliases: DCIP,HDDC1,SBBI88,MOP-5)

SAMHD1 biological process predictions


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Biological process GO term ID Process size Probability Func Analog Org
cellular response to bacterial lipoprotein GO:0071220 3 0.848
growth of symbiont in host GO:0044117 1 0.322
positive regulation of toll like receptor 2 signaling pathway GO:0034137 2 0.271
positive regulation of toll like receptor 4 signaling pathway GO:0034145 6 0.259
growth of symbiont involved in interaction with host GO:0044116 2 0.209
organophosphate catabolic process GO:0046434 430 0.175
regulation of locomotion GO:0040012 329 0.164
regulation of symbiosis encompassing mutualism through parasitism GO:0043903 109 0.155
symbiosis encompassing mutualism through parasitism GO:0044403 156 0.154
purine ribonucleotide catabolic process GO:0009154 404 0.150
purine nucleotide catabolic process GO:0006195 405 0.141
nucleoside triphosphate metabolic process GO:0009141 422 0.136
nucleotide catabolic process GO:0009166 408 0.135
purine nucleoside triphosphate catabolic process GO:0009146 392 0.128
interspecies interaction between organisms GO:0044419 156 0.128
regulation of toll like receptor 2 signaling pathway GO:0034135 2 0.126
immune effector process GO:0002252 159 0.124
purine containing compound catabolic process GO:0072523 411 0.124
positive regulation of toll like receptor signaling pathway GO:0034123 10 0.123
purine nucleoside triphosphate metabolic process GO:0009144 412 0.123
nucleoside phosphate catabolic process GO:1901292 412 0.121
purine ribonucleoside metabolic process GO:0046128 437 0.119
ribonucleoside triphosphate catabolic process GO:0009203 391 0.118
myeloid cell differentiation GO:0030099 117 0.114
nucleoside triphosphate catabolic process GO:0009143 394 0.111
response to bacterial lipopeptide GO:0070339 3 0.107
purine ribonucleoside catabolic process GO:0046130 398 0.104
purine nucleoside catabolic process GO:0006152 398 0.103
modulation of growth of symbiont involved in interaction with host GO:0044144 2 0.101
nucleoside catabolic process GO:0009164 408 0.101
ribonucleoside catabolic process GO:0042454 406 0.089
hematopoietic or lymphoid organ development GO:0048534 186 0.089
immune response GO:0006955 307 0.087
ribonucleoside triphosphate metabolic process GO:0009199 412 0.086
regulation of cell motility GO:2000145 299 0.086
regulation of growth of symbiont in host GO:0044126 1 0.086
purine ribonucleoside triphosphate catabolic process GO:0009207 391 0.084
positive regulation of behavior GO:0048520 60 0.078
ribonucleotide catabolic process GO:0009261 405 0.078
negative regulation of growth of symbiont in host GO:0044130 1 0.074
negative regulation of growth of symbiont involved in interaction with host GO:0044146 2 0.071
response to cytokine GO:0034097 232 0.071
cellular response to bacterial lipopeptide GO:0071221 3 0.071
regulation of cell migration GO:0030334 289 0.071
positive regulation of locomotion GO:0040017 186 0.069
negative regulation of multi organism process GO:0043901 92 0.065
glycosyl compound catabolic process GO:1901658 413 0.061
purine ribonucleoside triphosphate metabolic process GO:0009205 411 0.060
gtp catabolic process GO:0006184 237 0.060
positive regulation of toll like receptor 3 signaling pathway GO:0034141 1 0.060
cell chemotaxis GO:0060326 112 0.059
response to oxygen containing compound GO:1901700 369 0.056
response to other organism GO:0051707 261 0.056
positive regulation of cellular component movement GO:0051272 181 0.053
growth involved in symbiotic interaction GO:0044110 2 0.053
defense response GO:0006952 315 0.053
cellular response to lipoteichoic acid GO:0071223 3 0.050
guanosine containing compound catabolic process GO:1901069 239 0.050
hemopoiesis GO:0030097 180 0.050
positive regulation of nucleotide catabolic process GO:0030813 185 0.050
multicellular organismal aging GO:0010259 3 0.049
response to fungus GO:0009620 4 0.049
circadian behavior GO:0048512 2 0.048
cellular amino acid metabolic process GO:0006520 116 0.048
response to lipoteichoic acid GO:0070391 3 0.048
regulation of cellular component movement GO:0051270 334 0.047
regulation of nucleotide metabolic process GO:0006140 269 0.047
cellular response to oxygen containing compound GO:1901701 276 0.046
positive regulation of response to external stimulus GO:0032103 88 0.045
immune system development GO:0002520 195 0.045
regulation of nucleotide catabolic process GO:0030811 205 0.045
chemokine c x c motif ligand 2 production GO:0072567 3 0.044
regulation of anatomical structure morphogenesis GO:0022603 286 0.044
guanosine containing compound metabolic process GO:1901068 244 0.042
regulation of purine nucleotide metabolic process GO:1900542 264 0.042
positive regulation of leukocyte chemotaxis GO:0002690 38 0.042
cation transport GO:0006812 331 0.042
organonitrogen compound biosynthetic process GO:1901566 200 0.041
defense response to fungus GO:0050832 4 0.041
proteolysis involved in cellular protein catabolic process GO:0051603 244 0.041
viral process GO:0016032 146 0.041
defense response to other organism GO:0098542 129 0.041
regulation of viral process GO:0050792 103 0.040
determination of adult lifespan GO:0008340 2 0.039
regulation of multi organism process GO:0043900 157 0.039
purine nucleotide biosynthetic process GO:0006164 84 0.038
gtp metabolic process GO:0046039 239 0.038
response to external biotic stimulus GO:0043207 261 0.037
regulation of nucleoside metabolic process GO:0009118 209 0.037
positive regulation of purine nucleotide metabolic process GO:1900544 227 0.036
chemotaxis GO:0006935 157 0.036
protein catabolic process GO:0030163 325 0.036
response to bacterial lipoprotein GO:0032493 3 0.036
taxis GO:0042330 157 0.036
toll like receptor 2 signaling pathway GO:0034134 4 0.036
organophosphate biosynthetic process GO:0090407 163 0.035
positive regulation of nucleotide metabolic process GO:0045981 230 0.034
positive regulation of hydrolase activity GO:0051345 331 0.034
cytoplasmic transport GO:0016482 379 0.033
regulation of transferase activity GO:0051338 355 0.033
regulation of purine nucleotide catabolic process GO:0033121 205 0.033
ion homeostasis GO:0050801 230 0.032
locomotory behavior GO:0007626 1 0.031
negative regulation of growth GO:0045926 97 0.031
vesicle mediated transport GO:0016192 371 0.031
regulation of intracellular transport GO:0032386 195 0.031
positive regulation of cell motility GO:2000147 177 0.031
chemical homeostasis GO:0048878 306 0.031
cytokine production GO:0001816 247 0.030
positive regulation of immune system process GO:0002684 283 0.030
post embryonic development GO:0009791 2 0.030
regulation of lymphocyte activation GO:0051249 103 0.029
membrane organization GO:0061024 292 0.029
i kappab kinase nf kappab signaling GO:0007249 166 0.029
positive regulation of cellular component organization GO:0051130 376 0.028
leukocyte chemotaxis GO:0030595 76 0.028
positive regulation of cellular catabolic process GO:0031331 284 0.028
growth GO:0040007 202 0.028
positive regulation of nucleoside metabolic process GO:0045979 186 0.028
cellular protein catabolic process GO:0044257 261 0.028
regulation of growth GO:0040008 165 0.027
protein ubiquitination GO:0016567 314 0.027
positive regulation of purine nucleotide catabolic process GO:0033123 185 0.026
single organism membrane organization GO:0044802 268 0.026
response to bacterium GO:0009617 144 0.026
regulation of cellular component biogenesis GO:0044087 281 0.026
regulation of behavior GO:0050795 82 0.026
regulation of proteolysis GO:0030162 293 0.026
response to virus GO:0009615 126 0.026
cellular component morphogenesis GO:0032989 314 0.026
negative regulation of multicellular organismal process GO:0051241 317 0.026
carbohydrate derivative biosynthetic process GO:1901137 207 0.025
cellular lipid metabolic process GO:0044255 303 0.025
rhythmic behavior GO:0007622 2 0.025
positive regulation of cell migration GO:0030335 172 0.025
negative regulation of cellular protein metabolic process GO:0032269 353 0.024
cell morphogenesis GO:0000902 296 0.024
positive regulation of i kappab kinase nf kappab signaling GO:0043123 132 0.024
regulation of i kappab kinase nf kappab signaling GO:0043122 162 0.024
rho protein signal transduction GO:0007266 26 0.024
posttranscriptional regulation of gene expression GO:0010608 213 0.023
response to biotic stimulus GO:0009607 276 0.023
positive regulation of chemotaxis GO:0050921 57 0.023
cellular macromolecule catabolic process GO:0044265 380 0.023
viral life cycle GO:0019058 132 0.023
ras protein signal transduction GO:0007265 73 0.023
response to lipid GO:0033993 206 0.023
cellular response to dna damage stimulus GO:0006974 379 0.023
amine metabolic process GO:0009308 44 0.023
regulation of gtp catabolic process GO:0033124 180 0.023
cytokine mediated signaling pathway GO:0019221 109 0.022
protein maturation GO:0051604 233 0.022
regulation of kinase activity GO:0043549 314 0.022
negative regulation of protein metabolic process GO:0051248 391 0.022
regulation of cellular amino acid metabolic process GO:0006521 6 0.022
positive regulation of leukocyte migration GO:0002687 46 0.022
positive regulation of phosphorylation GO:0042327 394 0.022
regulation of response to external stimulus GO:0032101 222 0.021
nuclear transport GO:0051169 179 0.021
regulation of protein binding GO:0043393 66 0.021
negative regulation of transport GO:0051051 176 0.021
negative regulation of phosphate metabolic process GO:0045936 267 0.021
regulation of gtpase activity GO:0043087 180 0.021
negative regulation of cell proliferation GO:0008285 228 0.020
response to abiotic stimulus GO:0009628 336 0.020
interleukin 17 production GO:0032620 12 0.020
regulation of chemokine production GO:0032642 31 0.020
regulation of cellular response to stress GO:0080135 244 0.020
positive regulation of cellular amino acid metabolic process GO:0045764 3 0.020
chemokine biosynthetic process GO:0042033 4 0.020
response to molecule of bacterial origin GO:0002237 82 0.020
regulation of neutrophil migration GO:1902622 10 0.020
regulation of cellular amine metabolic process GO:0033238 11 0.020
cellular response to endogenous stimulus GO:0071495 336 0.020
protein processing GO:0016485 226 0.020
cellular cation homeostasis GO:0030003 163 0.020
positive regulation of interleukin 8 production GO:0032757 36 0.020
negative regulation of catalytic activity GO:0043086 335 0.020
regulation of binding GO:0051098 111 0.019
toll like receptor 4 signaling pathway GO:0034142 12 0.019
behavior GO:0007610 112 0.019
positive regulation of catabolic process GO:0009896 310 0.019
sequestering of metal ion GO:0051238 24 0.019
multi organism cellular process GO:0044764 156 0.019
protein localization to organelle GO:0033365 280 0.019
purine ribonucleoside monophosphate metabolic process GO:0009167 186 0.019
ribonucleoside monophosphate metabolic process GO:0009161 187 0.019
divalent metal ion transport GO:0070838 152 0.019
neutrophil chemotaxis GO:0030593 24 0.019
innate immune response GO:0045087 178 0.019
atp metabolic process GO:0046034 176 0.019
chromatin organization GO:0006325 351 0.019
regulation of leukocyte chemotaxis GO:0002688 46 0.019
positive regulation of gtpase activity GO:0043547 166 0.018
protein autophosphorylation GO:0046777 123 0.018
cellular response to molecule of bacterial origin GO:0071219 62 0.018
regulation of chemotaxis GO:0050920 74 0.018
cellular amine metabolic process GO:0044106 41 0.018
metal ion homeostasis GO:0055065 169 0.018
positive regulation of cell proliferation GO:0008284 301 0.018
mrna stabilization GO:0048255 18 0.018
segmentation GO:0035282 4 0.017
cellular chemical homeostasis GO:0055082 180 0.017
granulocyte migration GO:0097530 40 0.017
regulation of chemokine c x c motif ligand 2 production GO:2000341 2 0.017
protein modification by small protein conjugation GO:0032446 342 0.017
single organism carbohydrate metabolic process GO:0044723 193 0.017
rna stabilization GO:0043489 18 0.017
leukocyte proliferation GO:0070661 74 0.017
regulation of cytoplasmic transport GO:1903649 149 0.017
positive regulation of sequence specific dna binding transcription factor activity GO:0051091 131 0.017
myeloid leukocyte migration GO:0097529 62 0.017
compound eye development GO:0048749 1 0.017
purine nucleoside monophosphate metabolic process GO:0009126 186 0.017
regulation of protein kinase activity GO:0045859 289 0.017
regulation of protein transport GO:0051223 213 0.017
regulation of mapk cascade GO:0043408 262 0.017
system process GO:0003008 349 0.016
positive regulation of protein kinase activity GO:0045860 190 0.016
small gtpase mediated signal transduction GO:0007264 78 0.016
cellular response to lipid GO:0071396 127 0.016
leukocyte activation GO:0045321 164 0.016
intracellular protein transport GO:0006886 270 0.016
leukocyte migration GO:0050900 107 0.016
regulation of leukocyte migration GO:0002685 63 0.016
positive regulation of apoptotic process GO:0043065 246 0.016
actin filament based process GO:0030029 224 0.016
positive regulation of cytokine production GO:0001819 167 0.016
mitotic cell cycle process GO:1903047 286 0.016
defense response to virus GO:0051607 71 0.016
regulation of cytoskeleton organization GO:0051493 177 0.016
cell activation GO:0001775 213 0.016
purine ribonucleoside monophosphate catabolic process GO:0009169 158 0.016
regulation of granulocyte chemotaxis GO:0071622 16 0.016
anatomical structure formation involved in morphogenesis GO:0048646 284 0.015
regulation of interleukin 17 production GO:0032660 12 0.015
positive regulation of tumor necrosis factor superfamily cytokine production GO:1903557 22 0.015
protein targeting GO:0006605 187 0.015
regulation of cell morphogenesis GO:0022604 153 0.015
regulation of endopeptidase activity GO:0052548 170 0.015
regulation of protein complex assembly GO:0043254 147 0.015
cellular ketone metabolic process GO:0042180 80 0.015
protein oligomerization GO:0051259 173 0.015
erk1 and erk2 cascade GO:0070371 104 0.015
regulation of body fluid levels GO:0050878 99 0.015
negative regulation of cell death GO:0060548 345 0.015
carbohydrate metabolic process GO:0005975 207 0.015
regulation of vasculature development GO:1901342 97 0.015
positive regulation of leukocyte activation GO:0002696 80 0.015
positive regulation of interleukin 23 production GO:0032747 4 0.015
regulation of leukocyte activation GO:0002694 115 0.015
regulation of toll like receptor 3 signaling pathway GO:0034139 2 0.015
ubiquitin dependent protein catabolic process GO:0006511 206 0.015
regulation of small gtpase mediated signal transduction GO:0051056 156 0.015
negative regulation of cell motility GO:2000146 104 0.015
plasma membrane organization GO:0007009 115 0.015
regulation of cell differentiation GO:0045595 393 0.015
positive regulation of ras gtpase activity GO:0032320 117 0.015
cellular response to triacyl bacterial lipopeptide GO:0071727 2 0.014
mitotic cell cycle GO:0000278 326 0.014
ribonucleoside monophosphate catabolic process GO:0009158 158 0.014
regulation of cellular ketone metabolic process GO:0010565 50 0.014
sulfur compound metabolic process GO:0006790 101 0.014
female gamete generation GO:0007292 2 0.014
transmembrane transport GO:0055085 399 0.014
nucleoside monophosphate catabolic process GO:0009125 159 0.014
regulation of synaptic plasticity GO:0048167 3 0.014
peripheral nervous system development GO:0007422 2 0.014
negative regulation of hydrolase activity GO:0051346 182 0.014
cellular macromolecular complex assembly GO:0034622 324 0.014
response to oxygen levels GO:0070482 100 0.014
spermatid development GO:0007286 4 0.014
protein homooligomerization GO:0051260 100 0.014
positive regulation of stress activated mapk cascade GO:0032874 60 0.014
oogenesis GO:0048477 2 0.014
regulation of leukocyte proliferation GO:0070663 67 0.014
regulation of cell cycle process GO:0010564 266 0.014
negative regulation of phosphorus metabolic process GO:0010563 267 0.014
response to wounding GO:0009611 168 0.014
regulation of stress activated protein kinase signaling cascade GO:0070302 85 0.014
positive regulation of nf kappab transcription factor activity GO:0051092 81 0.014
atp catabolic process GO:0006200 157 0.014
cellular homeostasis GO:0019725 196 0.014
positive regulation of proteolysis GO:0045862 142 0.014
regulation of ras gtpase activity GO:0032318 128 0.014
positive regulation of chemokine production GO:0032722 22 0.014
negative regulation of cell cycle GO:0045786 193 0.014
actin cytoskeleton organization GO:0030036 207 0.014
cell projection organization GO:0030030 252 0.014
inflammatory response GO:0006954 79 0.013
cardiovascular system development GO:0072358 262 0.013
signal transduction by phosphorylation GO:0023014 297 0.013
calcium ion transport GO:0006816 147 0.013
endomembrane system organization GO:0010256 196 0.013
regulation of defense response GO:0031347 154 0.013
cell substrate adhesion GO:0031589 132 0.013
regulation of peptidase activity GO:0052547 180 0.013
positive regulation of transport GO:0051050 336 0.013
regulation of establishment of protein localization GO:0070201 242 0.013
cellular response to biotic stimulus GO:0071216 71 0.013
cellular protein complex assembly GO:0043623 188 0.013
divalent inorganic cation transport GO:0072511 158 0.013
activation of protein kinase activity GO:0032147 90 0.013
response to hormone GO:0009725 175 0.013
regulation of cell development GO:0060284 161 0.013
regulation of homeostatic process GO:0032844 121 0.013
positive regulation of developmental process GO:0051094 314 0.013
neuroblast proliferation GO:0007405 4 0.013
regulation of apoptotic signaling pathway GO:2001233 175 0.013
sequestering of calcium ion GO:0051208 17 0.013
nervous system development GO:0007399 293 0.013
response to organonitrogen compound GO:0010243 156 0.013
memory GO:0007613 3 0.013
ameboidal type cell migration GO:0001667 135 0.013
regulation of metal ion transport GO:0010959 120 0.013
purine ribonucleotide biosynthetic process GO:0009152 79 0.012
regulation of protein serine threonine kinase activity GO:0071900 179 0.012
divalent inorganic cation homeostasis GO:0072507 136 0.012
negative regulation of programmed cell death GO:0043069 321 0.012
cell growth GO:0016049 160 0.012
regeneration GO:0031099 4 0.012
mapk cascade GO:0000165 288 0.012
positive regulation of immune response GO:0050778 159 0.012
regulation of membrane potential GO:0042391 95 0.012
blastoderm segmentation GO:0007350 2 0.012
cellular ion homeostasis GO:0006873 168 0.012
epithelium development GO:0060429 227 0.012
regulation of sequence specific dna binding transcription factor activity GO:0051090 211 0.012
regulation of interleukin 6 production GO:0032675 37 0.012
regulation of chemokine biosynthetic process GO:0045073 4 0.012
neurotransmitter secretion GO:0007269 4 0.012
regulation of protein processing GO:0070613 150 0.012
regulation of tumor necrosis factor superfamily cytokine production GO:1903555 44 0.012
regulation of actin filament based process GO:0032970 141 0.012
regulation of rna stability GO:0043487 23 0.012
positive regulation of tumor necrosis factor production GO:0032760 21 0.012
modification dependent protein catabolic process GO:0019941 209 0.012
regulation of protein localization GO:0032880 296 0.012
circulatory system development GO:0072359 262 0.012
cell part morphogenesis GO:0032990 137 0.012
neuromuscular junction development GO:0007528 3 0.012
protein import GO:0017038 130 0.012
interleukin 8 production GO:0032637 51 0.012
spermatid differentiation GO:0048515 4 0.012
apoptotic signaling pathway GO:0097190 268 0.012
positive regulation of gtp catabolic process GO:0033126 166 0.012
nucleotide biosynthetic process GO:0009165 109 0.012
positive regulation of innate immune response GO:0045089 79 0.012
modification dependent macromolecule catabolic process GO:0043632 212 0.012
cell projection morphogenesis GO:0048858 129 0.012
negative regulation of cellular component organization GO:0051129 235 0.012
regulation of erk1 and erk2 cascade GO:0070372 99 0.012
cell development GO:0048468 328 0.012
secretion by cell GO:0032940 226 0.012
lipid metabolic process GO:0006629 381 0.011
positive regulation of interleukin 6 production GO:0032755 21 0.011
positive regulation of leukocyte proliferation GO:0070665 48 0.011
peptidyl tyrosine phosphorylation GO:0018108 170 0.011
response to radiation GO:0009314 151 0.011
chemokine production GO:0032602 32 0.011
regulation of vesicle mediated transport GO:0060627 130 0.011
positive regulation of programmed cell death GO:0043068 249 0.011
regulation of cysteine type endopeptidase activity GO:2000116 127 0.011
regulation of cyclic nucleotide metabolic process GO:0030799 63 0.011
regulation of cytokine production GO:0001817 232 0.011
response to oxidative stress GO:0006979 121 0.011
rna interference GO:0016246 4 0.011
defense response to gram positive bacterium GO:0050830 29 0.011
negative regulation of protein maturation GO:1903318 142 0.011
response to organic cyclic compound GO:0014070 204 0.011
regulation of protein maturation GO:1903317 150 0.011
stress activated protein kinase signaling cascade GO:0031098 94 0.011
histone modification GO:0016570 251 0.011
negative regulation of catabolic process GO:0009895 104 0.011
nucleoside monophosphate metabolic process GO:0009123 191 0.011
interleukin 6 production GO:0032635 37 0.011
positive regulation of binding GO:0051099 45 0.011
biological adhesion GO:0022610 331 0.011
immune response activating signal transduction GO:0002757 90 0.011
establishment of protein localization to membrane GO:0090150 121 0.011
maintenance of location GO:0051235 112 0.011
3 utr mediated mrna stabilization GO:0070935 8 0.011
viral genome replication GO:0019079 50 0.011
positive regulation of transferase activity GO:0051347 227 0.011
inner ear morphogenesis GO:0042472 4 0.011
t cell differentiation in thymus GO:0033077 4 0.010
positive regulation of cell activation GO:0050867 81 0.010
purine nucleoside monophosphate catabolic process GO:0009128 158 0.010
angiogenesis GO:0001525 147 0.010
visual behavior GO:0007632 2 0.010
purine containing compound biosynthetic process GO:0072522 88 0.010
protein localization to membrane GO:0072657 160 0.010
negative regulation of immune system process GO:0002683 136 0.010
negative regulation of viral genome replication GO:0045071 35 0.010
nitrogen compound transport GO:0071705 191 0.010
response to triacyl bacterial lipopeptide GO:0071725 2 0.010
phospholipid metabolic process GO:0006644 99 0.010
central nervous system development GO:0007417 123 0.010
negative regulation of cellular amino acid metabolic process GO:0045763 2 0.010
positive regulation of erk1 and erk2 cascade GO:0070374 75 0.010
response to tumor necrosis factor GO:0034612 76 0.010
positive regulation of cellular component biogenesis GO:0044089 158 0.010
regulation of mononuclear cell proliferation GO:0032944 65 0.010
generation of neurons GO:0048699 152 0.010
endosomal transport GO:0016197 129 0.010
positive regulation of cell differentiation GO:0045597 211 0.010
negative regulation of proteolysis GO:0045861 132 0.010
chromatin modification GO:0016568 298 0.010
toll signaling pathway GO:0008063 2 0.010
negative regulation of protein transport GO:0051224 75 0.010
stress activated mapk cascade GO:0051403 93 0.010
nucleoside phosphate biosynthetic process GO:1901293 109 0.010

SAMHD1 disease predictions

Disease DO term ID Size Probability Func Analog Org
disease by infectious agent DOID:0050117 34 0.105
parasitic infectious disease DOID:1398 16 0.040
musculoskeletal system disease DOID:17 223 0.030
cancer DOID:162 167 0.026
disease of cellular proliferation DOID:14566 174 0.026
organ system cancer DOID:0050686 164 0.026
parasitic protozoa infectious disease DOID:2789 16 0.024
immune system disease DOID:2914 155 0.018
sensory system disease DOID:0050155 203 0.017
nervous system disease DOID:863 431 0.017
eye and adnexa disease DOID:1492 150 0.016
eye disease DOID:5614 149 0.016
disease of metabolism DOID:0014667 295 0.013
central nervous system disease DOID:331 186 0.012
connective tissue disease DOID:65 109 0.011
bone disease DOID:0080001 88 0.010
aicardi goutieres syndrome DOID:0050629 7 0.001