DYM

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1tricarboxylic acid cycle (GO:0006099)4.63096166
2microtubule nucleation (GO:0007020)4.21360956
3positive regulation of mitochondrial fission (GO:0090141)4.14784333
4interkinetic nuclear migration (GO:0022027)4.10587204
5oxaloacetate metabolic process (GO:0006107)4.01429659
6spermatid nucleus differentiation (GO:0007289)3.88403278
7carnitine shuttle (GO:0006853)3.86689049
8actin-mediated cell contraction (GO:0070252)3.83586724
9valine metabolic process (GO:0006573)3.83326489
10NADH metabolic process (GO:0006734)3.81727015
11regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.80446476
12oxidative phosphorylation (GO:0006119)3.80442816
13lysine metabolic process (GO:0006553)3.73533531
14lysine catabolic process (GO:0006554)3.73533531
15sarcoplasmic reticulum calcium ion transport (GO:0070296)3.72104152
16DNA deamination (GO:0045006)3.70351558
17behavioral response to nicotine (GO:0035095)3.69440993
18galactose catabolic process (GO:0019388)3.68198884
19purine nucleotide salvage (GO:0032261)3.67467863
20regulation of meiosis I (GO:0060631)3.65976521
21neural tube formation (GO:0001841)3.64576052
222-oxoglutarate metabolic process (GO:0006103)3.61504150
23response to inactivity (GO:0014854)3.56335757
24protein polyglutamylation (GO:0018095)3.46948771
25establishment of mitochondrion localization (GO:0051654)3.45676962
26negative regulation of cell size (GO:0045792)3.39344128
27regulation of translational termination (GO:0006449)3.39337494
28microtubule severing (GO:0051013)3.37186967
29protein retention in ER lumen (GO:0006621)3.33876928
30pyrimidine nucleobase catabolic process (GO:0006208)3.33143258
31pyrimidine dimer repair (GO:0006290)3.32019281
32fatty acid transmembrane transport (GO:1902001)3.31401578
33purine-containing compound salvage (GO:0043101)3.25104771
34response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.24007426
35photoreceptor cell differentiation (GO:0046530)3.23450261
36eye photoreceptor cell differentiation (GO:0001754)3.23450261
37regulation of skeletal muscle contraction (GO:0014819)3.22366946
38seminiferous tubule development (GO:0072520)3.22143218
39regulation of acyl-CoA biosynthetic process (GO:0050812)3.21010570
40IMP metabolic process (GO:0046040)3.20395110
41myofibril assembly (GO:0030239)3.19265958
42dosage compensation (GO:0007549)3.17424571
43tricarboxylic acid metabolic process (GO:0072350)3.17069198
44adenosine metabolic process (GO:0046085)3.14723930
45somatic diversification of immune receptors via somatic mutation (GO:0002566)3.13745841
46somatic hypermutation of immunoglobulin genes (GO:0016446)3.13745841
47aspartate family amino acid catabolic process (GO:0009068)3.12977798
48nucleotide salvage (GO:0043173)3.11420457
49antigen processing and presentation via MHC class Ib (GO:0002475)3.11360288
50piRNA metabolic process (GO:0034587)3.10801336
51regulation of female gonad development (GO:2000194)3.09858526
52regulation of cofactor metabolic process (GO:0051193)3.09730545
53regulation of coenzyme metabolic process (GO:0051196)3.09730545
54COPI coating of Golgi vesicle (GO:0048205)3.09396723
55Golgi transport vesicle coating (GO:0048200)3.09396723
56sarcomere organization (GO:0045214)3.09318124
57carnitine transmembrane transport (GO:1902603)3.09075976
58folic acid metabolic process (GO:0046655)3.08075320
59porphyrin-containing compound biosynthetic process (GO:0006779)3.07135541
60negative regulation of neurotransmitter transport (GO:0051589)3.05723285
61DNA double-strand break processing (GO:0000729)3.04811103
62striatum development (GO:0021756)3.03871212
63folic acid-containing compound biosynthetic process (GO:0009396)3.01661851
64AMP metabolic process (GO:0046033)2.98297255
65CENP-A containing nucleosome assembly (GO:0034080)2.95293140
66chromatin remodeling at centromere (GO:0031055)2.94816615
67regulation of relaxation of muscle (GO:1901077)2.94544599
68ubiquinone biosynthetic process (GO:0006744)2.93841048
69quinone biosynthetic process (GO:1901663)2.93841048
70skeletal muscle tissue regeneration (GO:0043403)2.93729385
71regulation of histone H3-K9 methylation (GO:0051570)2.92060828
72reciprocal DNA recombination (GO:0035825)2.91756424
73reciprocal meiotic recombination (GO:0007131)2.91756424
74DNA strand elongation involved in DNA replication (GO:0006271)2.91548314
75cysteine metabolic process (GO:0006534)2.91070031
76maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.90951572
77L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.90564198
78heme biosynthetic process (GO:0006783)2.90351051
79succinate metabolic process (GO:0006105)2.90073202
80ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.90069725
81positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.88771117
82synapsis (GO:0007129)2.87762100
83centriole replication (GO:0007099)2.87537233
84amino-acid betaine transport (GO:0015838)2.87195196
85carnitine transport (GO:0015879)2.87195196
86regulation of fatty acid oxidation (GO:0046320)2.86975920
87neuron fate determination (GO:0048664)2.86666207
88IMP biosynthetic process (GO:0006188)2.85684885
89protein K48-linked ubiquitination (GO:0070936)2.83165211
90negative regulation of cell cycle G2/M phase transition (GO:1902750)2.83073577
91establishment of protein localization to Golgi (GO:0072600)2.82632232
92negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)2.81428211
93aspartate family amino acid metabolic process (GO:0009066)2.80464624
94nucleus localization (GO:0051647)2.76831009
95histone H3-K9 methylation (GO:0051567)2.76585674
96mitochondrion transport along microtubule (GO:0047497)2.74782202
97establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.74782202
98actin filament-based movement (GO:0030048)2.74437438
99skeletal muscle contraction (GO:0003009)2.73521865
100somite rostral/caudal axis specification (GO:0032525)2.72511176
101tetrapyrrole biosynthetic process (GO:0033014)2.72444434
102DNA strand elongation (GO:0022616)2.71878528
103purine nucleobase metabolic process (GO:0006144)2.71160995
104pteridine-containing compound biosynthetic process (GO:0042559)2.70033683
105negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.69662200
106regulation of cAMP-dependent protein kinase activity (GO:2000479)2.69637273
107aspartate family amino acid biosynthetic process (GO:0009067)2.69520277
108single strand break repair (GO:0000012)2.69190026
109microtubule anchoring (GO:0034453)2.68267815
110translesion synthesis (GO:0019985)2.65017635
111cellular metabolic compound salvage (GO:0043094)2.64442098
112mitochondrial calcium ion transport (GO:0006851)2.64301978
113nerve growth factor signaling pathway (GO:0038180)2.63122699
114protein K63-linked deubiquitination (GO:0070536)2.62836025
115amino acid salvage (GO:0043102)2.61055249
116L-methionine salvage (GO:0071267)2.61055249
117L-methionine biosynthetic process (GO:0071265)2.61055249
118cardiac myofibril assembly (GO:0055003)2.59982794
119DNA unwinding involved in DNA replication (GO:0006268)2.59957909
120mitotic G1 DNA damage checkpoint (GO:0031571)2.59401565
121fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.59062789
122branched-chain amino acid catabolic process (GO:0009083)2.58907372
123sex differentiation (GO:0007548)2.58578307
124DNA replication initiation (GO:0006270)2.58560394
125regulation of sulfur metabolic process (GO:0042762)2.57805940
126positive regulation of myoblast differentiation (GO:0045663)2.57089493
127mitochondrial fusion (GO:0008053)2.56605106
128branched-chain amino acid metabolic process (GO:0009081)2.54342977
129negative regulation of NF-kappaB import into nucleus (GO:0042347)2.53631899
130negative regulation of potassium ion transmembrane transport (GO:1901380)2.52472481
131glycine metabolic process (GO:0006544)2.52330416
132retrograde transport, vesicle recycling within Golgi (GO:0000301)2.51920117
133monoubiquitinated protein deubiquitination (GO:0035520)2.51181736
134cellular hyperosmotic response (GO:0071474)2.50102741
135negative regulation of neurotransmitter secretion (GO:0046929)2.49617239
136carnitine metabolic process (GO:0009437)2.49369315
137regulation of sarcomere organization (GO:0060297)2.49337001
138protein targeting to Golgi (GO:0000042)2.49232249
139fatty acid beta-oxidation (GO:0006635)2.49079114
140cilium or flagellum-dependent cell motility (GO:0001539)2.48546446
141muscle filament sliding (GO:0030049)2.47613486
142actin-myosin filament sliding (GO:0033275)2.47613486
143inositol metabolic process (GO:0006020)2.47428736
144sulfur amino acid catabolic process (GO:0000098)2.47189370
145postreplication repair (GO:0006301)2.47001373
146ADP metabolic process (GO:0046031)2.46658193
147inositol phosphate catabolic process (GO:0071545)2.46641749
148pyrimidine ribonucleoside catabolic process (GO:0046133)2.46533920
149positive regulation of lamellipodium assembly (GO:0010592)2.45289658
150one-carbon metabolic process (GO:0006730)2.45113763
151regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.45110496
152cerebral cortex radially oriented cell migration (GO:0021799)2.44710863
153positive regulation of triglyceride biosynthetic process (GO:0010867)2.44250130
154regulation of fatty acid beta-oxidation (GO:0031998)2.44003237
155iron-sulfur cluster assembly (GO:0016226)2.43328762
156metallo-sulfur cluster assembly (GO:0031163)2.43328762
157protein complex localization (GO:0031503)2.43326788
158synaptic transmission, cholinergic (GO:0007271)2.43279761
159cardiac muscle hypertrophy (GO:0003300)2.43263633
160sulfur amino acid biosynthetic process (GO:0000097)2.42920208
161striated muscle contraction (GO:0006941)2.42781849
162negative regulation of potassium ion transport (GO:0043267)2.42738091
163response to caffeine (GO:0031000)2.42661129
164histone exchange (GO:0043486)2.41003360
165GDP-mannose metabolic process (GO:0019673)2.40769073
166regulation of DNA endoreduplication (GO:0032875)2.40537185
167methionine metabolic process (GO:0006555)2.40267265
168gluconeogenesis (GO:0006094)2.40208764
169amino-acid betaine metabolic process (GO:0006577)2.39536919
170glycogen catabolic process (GO:0005980)2.38926690
171nucleoside diphosphate biosynthetic process (GO:0009133)2.38492452
172negative regulation of necroptotic process (GO:0060546)2.38469997
173gene silencing by RNA (GO:0031047)2.38343416
174telomere maintenance via semi-conservative replication (GO:0032201)2.38241063
175heart contraction (GO:0060047)2.38207484
176heart process (GO:0003015)2.38207484
177peptidyl-lysine methylation (GO:0018022)2.37956194
178regulation of mitochondrial fission (GO:0090140)2.37917769
1794-hydroxyproline metabolic process (GO:0019471)2.37058709
180tachykinin receptor signaling pathway (GO:0007217)2.36866965
181nucleoside salvage (GO:0043174)2.36667512
182hexose biosynthetic process (GO:0019319)2.36526762
183DNA replication-dependent nucleosome assembly (GO:0006335)2.36263990
184DNA replication-dependent nucleosome organization (GO:0034723)2.36263990
185peptidyl-lysine dimethylation (GO:0018027)2.34590963
186regulation of pigment cell differentiation (GO:0050932)2.33717517
187mitotic G2/M transition checkpoint (GO:0044818)2.33702894
188inositol phosphate dephosphorylation (GO:0046855)2.33613314
189phosphorylated carbohydrate dephosphorylation (GO:0046838)2.33613314

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.09492491
2EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.13793677
3E2F7_22180533_ChIP-Seq_HELA_Human4.02800028
4IGF1R_20145208_ChIP-Seq_DFB_Human3.73099903
5GBX2_23144817_ChIP-Seq_PC3_Human2.98683296
6POU3F2_20337985_ChIP-ChIP_501MEL_Human2.92561353
7RBPJ_22232070_ChIP-Seq_NCS_Mouse2.88986073
8GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.86505266
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.83315292
10ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.80776227
11FUS_26573619_Chip-Seq_HEK293_Human2.78362347
12TAF15_26573619_Chip-Seq_HEK293_Human2.65948810
13ZNF274_21170338_ChIP-Seq_K562_Hela2.65273326
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.59777995
15MYC_18555785_ChIP-Seq_MESCs_Mouse2.52323297
16VDR_22108803_ChIP-Seq_LS180_Human2.45487304
17CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.42158589
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.39735363
19MYC_22102868_ChIP-Seq_BL_Human2.35853053
20SALL1_21062744_ChIP-ChIP_HESCs_Human2.31026272
21EWS_26573619_Chip-Seq_HEK293_Human2.30414918
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.27619215
23* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.17211698
24ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.04348094
25TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.04157784
26FLI1_27457419_Chip-Seq_LIVER_Mouse2.03424639
27ZNF263_19887448_ChIP-Seq_K562_Human2.02202261
28RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.01828226
29* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.97742921
30BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.93149419
31* P300_19829295_ChIP-Seq_ESCs_Human1.92470423
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.91463276
33JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.87928256
34TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.81222715
35PPARA_22158963_ChIP-Seq_LIVER_Mouse1.80902216
36VDR_21846776_ChIP-Seq_THP-1_Human1.80721376
37MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.79263229
38HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.78552233
39NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.76531213
40PCGF2_27294783_Chip-Seq_ESCs_Mouse1.76057009
41AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.75206385
42* STAT3_23295773_ChIP-Seq_U87_Human1.74590235
43TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.74333599
44TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.71079781
45ETS1_20019798_ChIP-Seq_JURKAT_Human1.69057603
46FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.68168461
47CIITA_25753668_ChIP-Seq_RAJI_Human1.65988600
48* SMAD4_21799915_ChIP-Seq_A2780_Human1.65957545
49SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.65819810
50CBP_20019798_ChIP-Seq_JUKART_Human1.65445781
51IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.65445781
52SCL_19346495_ChIP-Seq_HPC-7_Human1.65287812
53TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.65243874
54RXR_22158963_ChIP-Seq_LIVER_Mouse1.65235974
55TOP2B_26459242_ChIP-Seq_MCF-7_Human1.62821454
56PIAS1_25552417_ChIP-Seq_VCAP_Human1.59506058
57* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.59291863
58PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.58702225
59CDX2_19796622_ChIP-Seq_MESCs_Mouse1.58634947
60GABP_19822575_ChIP-Seq_HepG2_Human1.56634708
61* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.56388697
62CTBP1_25329375_ChIP-Seq_LNCAP_Human1.56177244
63ER_23166858_ChIP-Seq_MCF-7_Human1.55734485
64TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.55488660
65OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.53009370
66TP53_16413492_ChIP-PET_HCT116_Human1.50834244
67* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.49772293
68* TCF4_23295773_ChIP-Seq_U87_Human1.48510914
69MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.48213146
70TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.48147150
71MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.47184256
72MYC_19030024_ChIP-ChIP_MESCs_Mouse1.46281500
73GATA1_22383799_ChIP-Seq_G1ME_Mouse1.46133363
74RNF2_27304074_Chip-Seq_NSC_Mouse1.45717535
75* THAP11_20581084_ChIP-Seq_MESCs_Mouse1.45662174
76PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.44748685
77MYB_21317192_ChIP-Seq_ERMYB_Mouse1.43890450
78* GATA1_19941827_ChIP-Seq_MEL_Mouse1.42953420
79KLF4_18555785_ChIP-Seq_MESCs_Mouse1.42676954
80EZH2_27294783_Chip-Seq_NPCs_Mouse1.42323059
81ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.42211767
82SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.41715769
83HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.41528702
84ELF1_20517297_ChIP-Seq_JURKAT_Human1.41211398
85CREB1_15753290_ChIP-ChIP_HEK293T_Human1.40835698
86STAT3_1855785_ChIP-Seq_MESCs_Mouse1.39981190
87MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.38380309
88* P68_20966046_ChIP-Seq_HELA_Human1.38187114
89XRN2_22483619_ChIP-Seq_HELA_Human1.36678174
90MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.35830901
91* AR_25329375_ChIP-Seq_VCAP_Human1.34106125
92TCF7_22412390_ChIP-Seq_EML_Mouse1.33823892
93SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33234801
94* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.31974088
95PCGF2_27294783_Chip-Seq_NPCs_Mouse1.31966804
96BCL6_27268052_Chip-Seq_Bcells_Human1.30950238
97SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30757756
98ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.29722094
99CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.28514092
100DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.28436396
101RUNX2_22187159_ChIP-Seq_PCA_Human1.28224740
102STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.27141201
103KLF5_20875108_ChIP-Seq_MESCs_Mouse1.26294011
104PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.26240844
105LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.25622122
106SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.25504107
107SMAD3_21741376_ChIP-Seq_EPCs_Human1.25487550
108SRF_21415370_ChIP-Seq_HL-1_Mouse1.23635047
109FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.23090818
110VDR_23849224_ChIP-Seq_CD4+_Human1.23068465
111GATA1_22025678_ChIP-Seq_K562_Human1.22732103
112LXR_22292898_ChIP-Seq_THP-1_Human1.22205617
113KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.22128349
114CBX2_27304074_Chip-Seq_ESCs_Mouse1.21665106
115FOXP3_21729870_ChIP-Seq_TREG_Human1.21636354
116AR_21572438_ChIP-Seq_LNCaP_Human1.20795966
117RUNX1_22412390_ChIP-Seq_EML_Mouse1.20708920
118* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.20337191
119AR_21909140_ChIP-Seq_LNCAP_Human1.20229204
120MAF_26560356_Chip-Seq_TH1_Human1.19690612
121BCOR_27268052_Chip-Seq_Bcells_Human1.18948439
122NR3C1_21868756_ChIP-Seq_MCF10A_Human1.18761111
123TAL1_26923725_Chip-Seq_HPCs_Mouse1.18600001
124TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.18590581
125* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18556692
126CTCF_18555785_ChIP-Seq_MESCs_Mouse1.18525557
127* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.18511419
128LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.17904317
129RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17693087
130TBX5_21415370_ChIP-Seq_HL-1_Mouse1.17504424
131ELK3_25401928_ChIP-Seq_HUVEC_Human1.17120007
132FLI1_21867929_ChIP-Seq_TH2_Mouse1.16841597
133FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.16814946
134POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.16810746
135TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16810746
136E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.16088210
137NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.15744608
138ERG_20887958_ChIP-Seq_HPC-7_Mouse1.15109029
139MYC_19079543_ChIP-ChIP_MESCs_Mouse1.14976290
140YY1_22570637_ChIP-Seq_MALME-3M_Human1.14828764
141E2F1_21310950_ChIP-Seq_MCF-7_Human1.14633950
142MYCN_18555785_ChIP-Seq_MESCs_Mouse1.14429176
143EST1_17652178_ChIP-ChIP_JURKAT_Human1.14172307
144TP63_19390658_ChIP-ChIP_HaCaT_Human1.13535611
145* GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.13439435
146GABP_17652178_ChIP-ChIP_JURKAT_Human1.13298387
147NANOG_18555785_Chip-Seq_ESCs_Mouse1.12340341
148CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.11558305
149PRDM14_20953172_ChIP-Seq_ESCs_Human1.11428665
150SOX2_21211035_ChIP-Seq_LN229_Gbm1.11393156
151ELF1_17652178_ChIP-ChIP_JURKAT_Human1.11220254
152HOXB4_20404135_ChIP-ChIP_EML_Mouse1.10721774
153BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.10664395
154NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.10437591
155CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10366040
156NELFA_20434984_ChIP-Seq_ESCs_Mouse1.10191151
157TET1_21451524_ChIP-Seq_MESCs_Mouse1.10137778
158CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.08829027
159KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.08775265
160PHF8_20622854_ChIP-Seq_HELA_Human1.08299047
161* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08249307
162UTX_26944678_Chip-Seq_JUKART_Human1.08159703
163CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.07533874
164YY1_21170310_ChIP-Seq_MESCs_Mouse1.07235111
165EGR1_19374776_ChIP-ChIP_THP-1_Human1.07163808
166ATF3_27146783_Chip-Seq_COLON_Human1.06786136
167NFE2_27457419_Chip-Seq_LIVER_Mouse1.06200015
168CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.05785645
169TP53_22573176_ChIP-Seq_HFKS_Human1.05242812
170SMAD4_21741376_ChIP-Seq_EPCs_Human1.05129435
171SRY_22984422_ChIP-ChIP_TESTIS_Rat1.04138680
172EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.04092472
173GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.03775692
174CTCF_21964334_ChIP-Seq_BJAB-B_Human1.03254553
175GATA2_22383799_ChIP-Seq_G1ME_Mouse1.02658022
176MAF_26560356_Chip-Seq_TH2_Human1.02359454
177FOXM1_23109430_ChIP-Seq_U2OS_Human1.02115264
178FOXP1_21924763_ChIP-Seq_HESCs_Human1.01989455
179RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.01883556
180CTCF_21964334_Chip-Seq_Bcells_Human1.01758876
181CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.01618591
182TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.01525535
183E2F1_18555785_Chip-Seq_ESCs_Mouse1.01381837
184KDM5A_27292631_Chip-Seq_BREAST_Human1.01298710
185BMI1_23680149_ChIP-Seq_NPCS_Mouse1.01267885
186CRX_20693478_ChIP-Seq_RETINA_Mouse1.00662465
187KDM2B_26808549_Chip-Seq_REH_Human1.00067339
188* FOXA1_21572438_ChIP-Seq_LNCaP_Human0.98212189
189NANOG_19829295_ChIP-Seq_ESCs_Human0.98151333
190SOX2_19829295_ChIP-Seq_ESCs_Human0.98151333
191E2F4_17652178_ChIP-ChIP_JURKAT_Human0.97894790
192TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.95246394
193OCT4_21477851_ChIP-Seq_ESCs_Mouse0.95067212
194* SOX9_26525672_Chip-Seq_HEART_Mouse0.94645498
195GATA1_26923725_Chip-Seq_HPCs_Mouse0.93929580
196SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.93013842
197* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.92292644
198KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.92002686

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue5.12739961
2MP0000569_abnormal_digit_pigmentation5.11280400
3MP0003656_abnormal_erythrocyte_physiolo3.43074218
4MP0002837_dystrophic_cardiac_calcinosis3.20927513
5MP0003806_abnormal_nucleotide_metabolis3.07193379
6MP0000751_myopathy2.71000374
7MP0000749_muscle_degeneration2.62578601
8MP0006036_abnormal_mitochondrial_physio2.52747599
9MP0005365_abnormal_bile_salt2.48839178
10MP0004147_increased_porphyrin_level2.46712763
11MP0005083_abnormal_biliary_tract2.40709836
12MP0008995_early_reproductive_senescence2.40031655
13MP0000372_irregular_coat_pigmentation2.35978976
14MP0004130_abnormal_muscle_cell2.30973981
15MP0004084_abnormal_cardiac_muscle2.30400682
16MP0002396_abnormal_hematopoietic_system2.27658958
17MP0006292_abnormal_olfactory_placode2.17415265
18MP0002269_muscular_atrophy2.14548425
19MP0004036_abnormal_muscle_relaxation2.13472173
20MP0004233_abnormal_muscle_weight2.03828365
21MP0001529_abnormal_vocalization2.03322404
22MP0004215_abnormal_myocardial_fiber2.01766622
23MP0005085_abnormal_gallbladder_physiolo2.01112626
24MP0003890_abnormal_embryonic-extraembry1.95279575
25MP0005397_hematopoietic_system_phenotyp1.90052234
26MP0001545_abnormal_hematopoietic_system1.90052234
27MP0002139_abnormal_hepatobiliary_system1.87617499
28MP0002009_preneoplasia1.87139846
29MP0003693_abnormal_embryo_hatching1.85052192
30MP0004087_abnormal_muscle_fiber1.83582121
31MP0001984_abnormal_olfaction1.79657418
32MP0002102_abnormal_ear_morphology1.78548423
33MP0003221_abnormal_cardiomyocyte_apopto1.76227693
34MP0000747_muscle_weakness1.72568065
35MP0004145_abnormal_muscle_electrophysio1.71858541
36MP0002234_abnormal_pharynx_morphology1.70514700
37MP0002095_abnormal_skin_pigmentation1.69865769
38MP0004142_abnormal_muscle_tone1.67857744
39MP0005670_abnormal_white_adipose1.65927374
40MP0002106_abnormal_muscle_physiology1.64063162
41MP0009840_abnormal_foam_cell1.64012489
42MP0010094_abnormal_chromosome_stability1.61223051
43MP0006035_abnormal_mitochondrial_morpho1.60906228
44MP0002127_abnormal_cardiovascular_syste1.55668753
45MP0001666_abnormal_nutrient_absorption1.54700740
46MP0003122_maternal_imprinting1.54674577
47MP0005330_cardiomyopathy1.52989821
48MP0005423_abnormal_somatic_nervous1.51864918
49MP0003186_abnormal_redox_activity1.51412305
50MP0005174_abnormal_tail_pigmentation1.48078402
51MP0008057_abnormal_DNA_replication1.47757060
52MP0003121_genomic_imprinting1.40931268
53MP0005319_abnormal_enzyme/_coenzyme1.40187270
54MP0000015_abnormal_ear_pigmentation1.39115827
55MP0000759_abnormal_skeletal_muscle1.38510577
56MP0004134_abnormal_chest_morphology1.37625873
57MP0000343_altered_response_to1.33342626
58MP0005360_urolithiasis1.29232118
59MP0008789_abnormal_olfactory_epithelium1.29155780
60MP0002822_catalepsy1.28625276
61MP0000750_abnormal_muscle_regeneration1.24526609
62MP0004808_abnormal_hematopoietic_stem1.24477072
63MP0000013_abnormal_adipose_tissue1.24388430
64MP0003183_abnormal_peptide_metabolism1.24063064
65MP0010630_abnormal_cardiac_muscle1.23971285
66MP0004957_abnormal_blastocyst_morpholog1.23926119
67MP0004133_heterotaxia1.20965223
68MP0005394_taste/olfaction_phenotype1.20437711
69MP0005499_abnormal_olfactory_system1.20437711
70MP0003111_abnormal_nucleus_morphology1.20153827
71MP0000631_abnormal_neuroendocrine_gland1.16231348
72MP0003787_abnormal_imprinting1.15882908
73MP0005369_muscle_phenotype1.15494251
74MP0003705_abnormal_hypodermis_morpholog1.14384249
75MP0005620_abnormal_muscle_contractility1.13647119
76MP0010352_gastrointestinal_tract_polyps1.11175681
77MP0010329_abnormal_lipoprotein_level1.09321596
78MP0001544_abnormal_cardiovascular_syste1.08943858
79MP0005385_cardiovascular_system_phenoty1.08943858
80MP0008775_abnormal_heart_ventricle1.08754933
81MP0000490_abnormal_crypts_of1.08454164
82MP0002938_white_spotting1.08255991
83MP0003191_abnormal_cellular_cholesterol1.08188224
84MP0003077_abnormal_cell_cycle1.07050177
85MP0005666_abnormal_adipose_tissue1.06047230
86MP0009250_abnormal_appendicular_skeleto1.05791285
87MP0005464_abnormal_platelet_physiology1.05784238
88MP0002653_abnormal_ependyma_morphology1.03023392
89* MP0000358_abnormal_cell_content/1.02848990
90MP0005584_abnormal_enzyme/coenzyme_acti1.02667205
91MP0006054_spinal_hemorrhage1.01344122
92MP0005266_abnormal_metabolism1.00288887
93MP0000049_abnormal_middle_ear0.99805316
94MP0002972_abnormal_cardiac_muscle0.99369520
95MP0003698_abnormal_male_reproductive0.98253984
96MP0008961_abnormal_basal_metabolism0.97844735
97MP0000609_abnormal_liver_physiology0.95654178
98MP0006276_abnormal_autonomic_nervous0.95593390
99MP0001764_abnormal_homeostasis0.95466405
100MP0001873_stomach_inflammation0.92317786
101MP0002118_abnormal_lipid_homeostasis0.92167415
102MP0003763_abnormal_thymus_physiology0.91704273
103MP0005332_abnormal_amino_acid0.90317361
104MP0000685_abnormal_immune_system0.90307338
105MP0002177_abnormal_outer_ear0.89375398
106MP0003137_abnormal_impulse_conducting0.87333937
107MP0005171_absent_coat_pigmentation0.86951521
108MP0002735_abnormal_chemical_nociception0.86544720
109MP0002019_abnormal_tumor_incidence0.86330925
110MP0001177_atelectasis0.85635324
111MP0000778_abnormal_nervous_system0.85372212
112MP0005551_abnormal_eye_electrophysiolog0.84668668
113MP0005386_behavior/neurological_phenoty0.84418638
114MP0004924_abnormal_behavior0.84418638
115MP0008875_abnormal_xenobiotic_pharmacok0.84189053
116MP0002928_abnormal_bile_duct0.83986421
117MP0010030_abnormal_orbit_morphology0.83543438
118MP0000598_abnormal_liver_morphology0.83295672
119MP0001929_abnormal_gametogenesis0.83124664
120MP0002398_abnormal_bone_marrow0.82409014
121MP0004484_altered_response_of0.81995647
122MP0005253_abnormal_eye_physiology0.81843495
123MP0002233_abnormal_nose_morphology0.81819769
124MP0002210_abnormal_sex_determination0.80679570
125MP0002108_abnormal_muscle_morphology0.79964653
126MP0003937_abnormal_limbs/digits/tail_de0.79785763
127MP0005075_abnormal_melanosome_morpholog0.77915139
128MP0001730_embryonic_growth_arrest0.77379101
129MP0005410_abnormal_fertilization0.77047986
130MP0002970_abnormal_white_adipose0.76892606
131MP0005220_abnormal_exocrine_pancreas0.76793313
132MP0001324_abnormal_eye_pigmentation0.76430021
133MP0010368_abnormal_lymphatic_system0.76098562
134MP0003868_abnormal_feces_composition0.75772668
135MP0008058_abnormal_DNA_repair0.74832979
136MP0001293_anophthalmia0.72628659
137MP0002078_abnormal_glucose_homeostasis0.72370941
138MP0000313_abnormal_cell_death0.71765908
139MP0009643_abnormal_urine_homeostasis0.71343971
140MP0002332_abnormal_exercise_endurance0.71231018
141MP0000653_abnormal_sex_gland0.71043922
142MP0000689_abnormal_spleen_morphology0.70927085
143MP0002272_abnormal_nervous_system0.70671661
144MP0000733_abnormal_muscle_development0.69880409
145MP0002638_abnormal_pupillary_reflex0.69711117
146MP0005645_abnormal_hypothalamus_physiol0.69513913
147MP0001986_abnormal_taste_sensitivity0.69399678
148MP0002080_prenatal_lethality0.67403756
149MP0008877_abnormal_DNA_methylation0.67044031
150MP0003880_abnormal_central_pattern0.66907929
151MP0004185_abnormal_adipocyte_glucose0.66555988
152MP0008004_abnormal_stomach_pH0.66477740
153MP0003567_abnormal_fetal_cardiomyocyte0.66229782
154MP0002722_abnormal_immune_system0.65784866
155MP0002751_abnormal_autonomic_nervous0.65726059
156MP0005636_abnormal_mineral_homeostasis0.65592133
157MP0002249_abnormal_larynx_morphology0.65447776
158MP0002429_abnormal_blood_cell0.65049548
159MP0003136_yellow_coat_color0.64936329
160MP0003635_abnormal_synaptic_transmissio0.64174808
161MP0000350_abnormal_cell_proliferation0.64170163
162MP0004264_abnormal_extraembryonic_tissu0.63162553

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)4.42068313
2Myoglobinuria (HP:0002913)4.30991600
3Rhabdomyolysis (HP:0003201)4.15285135
4Exercise-induced muscle cramps (HP:0003710)4.10884588
5Aplastic anemia (HP:0001915)3.58605797
6Type 1 muscle fiber predominance (HP:0003803)3.51652265
7Abnormality of alanine metabolism (HP:0010916)3.37571201
8Hyperalaninemia (HP:0003348)3.37571201
9Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.37571201
10Medial flaring of the eyebrow (HP:0010747)3.31677417
11Asymmetric septal hypertrophy (HP:0001670)3.29820864
12Rimmed vacuoles (HP:0003805)3.25397817
13Gait imbalance (HP:0002141)3.17093217
14Congenital primary aphakia (HP:0007707)3.05966696
15Nephrogenic diabetes insipidus (HP:0009806)3.01772749
16Hyperammonemia (HP:0001987)2.99758824
17Sudden death (HP:0001699)2.96807448
18Decreased activity of mitochondrial respiratory chain (HP:0008972)2.94506856
19Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.94506856
20Ulnar deviation of the wrist (HP:0003049)2.88935333
21Drooling (HP:0002307)2.88504719
22Myotonia (HP:0002486)2.84669703
23Long clavicles (HP:0000890)2.83168327
24Subaortic stenosis (HP:0001682)2.81616264
25Abnormality of the left ventricular outflow tract (HP:0011103)2.81616264
26Bundle branch block (HP:0011710)2.81184873
27Myopathic facies (HP:0002058)2.80285209
28Palpitations (HP:0001962)2.80266790
29Abnormality of fatty-acid metabolism (HP:0004359)2.79181642
30Ventricular tachycardia (HP:0004756)2.78652602
31Poor coordination (HP:0002370)2.76966210
32Muscle stiffness (HP:0003552)2.76482157
33Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.75836389
34Dicarboxylic aciduria (HP:0003215)2.74836930
35Abnormality of dicarboxylic acid metabolism (HP:0010995)2.74836930
36Abnormality of the heme biosynthetic pathway (HP:0010472)2.74590835
37Ketosis (HP:0001946)2.71594334
38Increased muscle lipid content (HP:0009058)2.68027787
39Calf muscle hypertrophy (HP:0008981)2.60825164
40Genital tract atresia (HP:0001827)2.58576944
41Excessive salivation (HP:0003781)2.58250566
42Gout (HP:0001997)2.55691892
43Hepatic necrosis (HP:0002605)2.54666545
44Hyporeflexia of lower limbs (HP:0002600)2.53087327
45Distal arthrogryposis (HP:0005684)2.51790447
46Vaginal atresia (HP:0000148)2.51717415
47Atrioventricular block (HP:0001678)2.51629270
48Muscle fiber splitting (HP:0003555)2.47254865
49Areflexia of lower limbs (HP:0002522)2.45004963
50Poikilocytosis (HP:0004447)2.44024870
51Chronic hepatic failure (HP:0100626)2.41629202
52Ragged-red muscle fibers (HP:0003200)2.41168896
53Hypoglycemic coma (HP:0001325)2.39770807
54Muscle hypertrophy of the lower extremities (HP:0008968)2.39588339
55Heart block (HP:0012722)2.38518644
56Ketoacidosis (HP:0001993)2.35350772
57Lipoatrophy (HP:0100578)2.34951330
58Difficulty running (HP:0009046)2.33990922
59Difficulty climbing stairs (HP:0003551)2.33462524
60Muscle fiber inclusion bodies (HP:0100299)2.32184646
61Late onset (HP:0003584)2.31345682
62Lactic acidosis (HP:0003128)2.28156840
63Abnormality of the calf musculature (HP:0001430)2.26618009
64Polycythemia (HP:0001901)2.25506342
65Cortical dysplasia (HP:0002539)2.24169110
66Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.24125041
67Abnormal finger flexion creases (HP:0006143)2.24024209
68Hepatocellular necrosis (HP:0001404)2.23344900
69Neoplasm of head and neck (HP:0012288)2.21075493
70Esophageal neoplasm (HP:0100751)2.21075493
71Truncal obesity (HP:0001956)2.20277023
72Cholelithiasis (HP:0001081)2.19961735
73Ventricular fibrillation (HP:0001663)2.19458986
74* Hypoplastic iliac wings (HP:0002866)2.17396195
75Increased intramyocellular lipid droplets (HP:0012240)2.15159677
76Progressive muscle weakness (HP:0003323)2.14646548
77Hyperbilirubinemia (HP:0002904)2.14525075
78Abnormal atrioventricular conduction (HP:0005150)2.14061729
79Genetic anticipation (HP:0003743)2.13592016
80Abnormality of the labia minora (HP:0012880)2.12794124
81Abnormality of the lower motor neuron (HP:0002366)2.12419399
82Papillary thyroid carcinoma (HP:0002895)2.11743319
83Limb-girdle muscle atrophy (HP:0003797)2.11607310
84Colon cancer (HP:0003003)2.10811156
85Left ventricular hypertrophy (HP:0001712)2.10400625
86Thrombocytosis (HP:0001894)2.10256602
87Abnormality of aromatic amino acid family metabolism (HP:0004338)2.09794243
88Thyroid-stimulating hormone excess (HP:0002925)2.08779591
89Aplasia/Hypoplasia of the uvula (HP:0010293)2.08346124
90Dilated cardiomyopathy (HP:0001644)2.07984218
91Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.05161036
92Degeneration of the lateral corticospinal tracts (HP:0002314)2.05161036
93Central scotoma (HP:0000603)2.04022285
94Acanthocytosis (HP:0001927)2.03834712
95Type II lissencephaly (HP:0007260)2.03243081
96Absent phalangeal crease (HP:0006109)2.02940587
97Oligodactyly (hands) (HP:0001180)2.02159268
98EMG: myopathic abnormalities (HP:0003458)2.01593630
99Increased connective tissue (HP:0009025)2.00968443
100Reticulocytosis (HP:0001923)2.00285786
101Abnormality of the nasal mucosa (HP:0000433)1.96644577
102Short foot (HP:0001773)1.94631053
103Lissencephaly (HP:0001339)1.93716973
104Calcaneovalgus deformity (HP:0001848)1.93005800
105Urinary bladder sphincter dysfunction (HP:0002839)1.92825132
106Broad-based gait (HP:0002136)1.91928458
107Poor eye contact (HP:0000817)1.91924879
108Long toe (HP:0010511)1.91701244
109Hyperglycinuria (HP:0003108)1.90820662
110Attenuation of retinal blood vessels (HP:0007843)1.90265127
111Nephronophthisis (HP:0000090)1.89847877
112Acute lymphatic leukemia (HP:0006721)1.89154719
113Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.89055949
114Urinary urgency (HP:0000012)1.88801306
115Hyperglycinemia (HP:0002154)1.88152639
116Generalized aminoaciduria (HP:0002909)1.86767084
117Increased purine levels (HP:0004368)1.86731479
118Hyperuricemia (HP:0002149)1.86731479
119Supraventricular tachycardia (HP:0004755)1.86215837
120Pachygyria (HP:0001302)1.85872070
121Abnormal gallbladder morphology (HP:0012437)1.85514287
122* Abnormality of the pubic bones (HP:0003172)1.85130217
123Nasal polyposis (HP:0100582)1.84813057
124Nemaline bodies (HP:0003798)1.84665494
125Aplasia/Hypoplasia of the tongue (HP:0010295)1.84020973
126Pancreatic cysts (HP:0001737)1.83973479
127Abnormality of the corticospinal tract (HP:0002492)1.83452739
128Abnormality of lateral ventricle (HP:0030047)1.83356320
129Atrial fibrillation (HP:0005110)1.83116392
130Cholecystitis (HP:0001082)1.83077962
131Abnormal gallbladder physiology (HP:0012438)1.83077962
132Progressive cerebellar ataxia (HP:0002073)1.82991542
133Neuroendocrine neoplasm (HP:0100634)1.81539621
134Hip dysplasia (HP:0001385)1.81347430
135Hypoplasia of the pons (HP:0012110)1.80868497
136Primary atrial arrhythmia (HP:0001692)1.80390013
137Prolonged QT interval (HP:0001657)1.80321560
138Tubulointerstitial nephritis (HP:0001970)1.80233037
139Muscle fiber atrophy (HP:0100295)1.79899792
140Unsteady gait (HP:0002317)1.79791690
141Increased serum ferritin (HP:0003281)1.79440858
142Petechiae (HP:0000967)1.78980464
143Metabolic acidosis (HP:0001942)1.78532501
144Toxemia of pregnancy (HP:0100603)1.76631795
145Pheochromocytoma (HP:0002666)1.76407596
146Supraventricular arrhythmia (HP:0005115)1.76289275
147Syncope (HP:0001279)1.76018542
148Oligomenorrhea (HP:0000876)1.75673731
149Gaze-evoked nystagmus (HP:0000640)1.75587869
150Ectopic kidney (HP:0000086)1.75549079
151Spastic paraplegia (HP:0001258)1.75456453
152* Broad foot (HP:0001769)1.75144861
153Hypoalphalipoproteinemia (HP:0003233)1.73953756
154Neoplasm of the peripheral nervous system (HP:0100007)1.73609018
155Specific learning disability (HP:0001328)1.72231643
156Impaired vibration sensation in the lower limbs (HP:0002166)1.72123917
157Fetal akinesia sequence (HP:0001989)1.70371847
158Chromsome breakage (HP:0040012)1.69656122
159Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.69198289
160Impulsivity (HP:0100710)1.68602238
161Cerebellar dysplasia (HP:0007033)1.68185983
162True hermaphroditism (HP:0010459)1.66706858
163Tented upper lip vermilion (HP:0010804)1.65280817
164Astigmatism (HP:0000483)1.64354210
165Abnormal social behavior (HP:0012433)1.63755074
166Impaired social interactions (HP:0000735)1.63755074
167Paraplegia (HP:0010550)1.62183684
168Absent speech (HP:0001344)1.61607546
169Birth length less than 3rd percentile (HP:0003561)1.61386697
170Pancreatic fibrosis (HP:0100732)1.61037375
171Deformed tarsal bones (HP:0008119)1.60324372
172Abnormality of chromosome stability (HP:0003220)1.58582668
173Abnormality of the renal medulla (HP:0100957)1.57428262
174Frequent falls (HP:0002359)1.57419138
175Protruding tongue (HP:0010808)1.55372862
176Abnormality of the labia majora (HP:0012881)1.54730114
177Abnormality of the parathyroid morphology (HP:0011766)1.54344576
178Symphalangism affecting the phalanges of the hand (HP:0009773)1.54305131

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK193.82063393
2BCKDK3.80506708
3EEF2K3.52761934
4TRIB33.27660283
5PKN22.94143786
6MAPKAPK32.84717383
7TAOK32.49604551
8ERN12.49170148
9PDK32.32843166
10PDK42.32843166
11TAOK12.30342530
12NEK12.15739943
13FLT32.13707435
14MAP4K22.06550089
15MAP2K32.03136827
16TTN2.01085714
17WNK31.98915988
18ACVR1B1.95327154
19PHKG21.93307223
20PHKG11.93307223
21SGK21.90593020
22FRK1.84788506
23PINK11.83784242
24CASK1.80363182
25KSR21.80204637
26PNCK1.77428099
27ERBB31.72058347
28SCYL21.62177128
29SGK4941.60208290
30SGK2231.60208290
31MAP3K111.56954150
32PIK3CG1.56056490
33EIF2AK11.55314791
34MAP4K11.54659936
35RIPK11.49438046
36CAMK1G1.48070490
37BCR1.43115664
38MUSK1.41309987
39LMTK21.38999782
40MAP2K61.38976190
41MAPK131.38591898
42KIT1.37595533
43NTRK21.34794396
44ZAP701.33828861
45BRD41.33183799
46WEE11.27776148
47MARK11.25378895
48RPS6KB21.18228828
49SGK31.16790013
50MAP2K41.16781518
51AKT31.13175097
52NME21.10472957
53BMPR1B1.07692158
54TNIK1.06934373
55CAMK41.06122190
56ZAK1.06040191
57DYRK21.04551900
58PRKD31.04458897
59OBSCN1.03304161
60MAPK111.02497181
61CDC71.02032117
62MAP3K61.01063204
63MAP3K101.00501452
64TGFBR10.99630674
65ILK0.98618138
66PDK20.97319180
67DYRK30.96634084
68MAP3K90.92667661
69MAP2K70.91269239
70NEK20.89651268
71ADRBK20.89645278
72DMPK0.87653849
73PLK40.87437339
74KDR0.84241622
75TESK10.82879471
76TAOK20.82373629
77CAMK10.80325578
78TEC0.80288272
79CCNB10.79027531
80MAP3K50.76911334
81SGK10.75907151
82FGFR40.75906542
83PKN10.75847617
84CSNK1G20.75303134
85NEK90.74985970
86MAP3K10.74484816
87TBK10.74393138
88PIK3CA0.74088170
89BRSK20.74083068
90TRIM280.74043185
91MAPKAPK50.73929907
92INSRR0.73797306
93STK30.73083396
94GRK10.71325594
95RAF10.71217043
96CDK40.70169924
97CHEK20.68741839
98RET0.68665002
99MAPK120.68549123
100STK160.68353564
101EPHA30.68125612
102MAP3K80.65546232
103CAMKK10.65441081
104BRSK10.64318620
105JAK30.62854248
106MAP3K120.62493636
107DAPK10.62096205
108NLK0.62048604
109STK38L0.61050267
110DYRK1B0.60674920
111LRRK20.59041504
112ATM0.58283708
113MATK0.58192888
114CSNK1A1L0.57978150
115BTK0.57843977
116MKNK10.57741088
117RPS6KA60.57511170
118CAMKK20.56388687
119TESK20.56061858
120JAK20.55811013
121LATS20.55146651
122MARK20.54993253
123RPS6KA50.54654199
124PRKG10.54268452
125PRKAA10.54001848
126PDK10.53841601
127MAP2K20.53759437
128STK240.51892968
129PASK0.51881533
130EIF2AK30.50892388
131ADRBK10.50594732
132TSSK60.50144326
133PRKAA20.50040622
134CAMK1D0.49041230
135MINK10.48163074
136CSF1R0.47482647
137IRAK10.47477019
138PRKACA0.46366709
139TTK0.46235820
140PAK40.46177237
141NTRK30.45072461
142MYLK0.44540077
143RPS6KC10.44462426
144RPS6KL10.44462426
145PRKG20.43691772
146RPS6KB10.43527157
147MAP3K70.42403857
148MAP2K10.42245300
149PRKCQ0.42154381
150TIE10.41671300
151SIK30.41606591
152RPS6KA30.41605931
153BUB10.41329322
154PIM20.41046679
155TYK20.40314740
156CSNK1G30.39875459
157RPS6KA40.39167082
158CDK30.38979929
159RPS6KA10.38766093
160ARAF0.38076984
161MAP3K40.37976188
162CSNK1G10.37873651
163BRAF0.36352885
164PTK2B0.36144463
165ATR0.35244832
166MTOR0.32391661

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.69830237
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.69659762
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.04798785
4DNA replication_Homo sapiens_hsa030302.86160719
5Propanoate metabolism_Homo sapiens_hsa006402.71835776
6Carbon metabolism_Homo sapiens_hsa012002.61983769
7Fanconi anemia pathway_Homo sapiens_hsa034602.58637855
8Regulation of autophagy_Homo sapiens_hsa041402.53535170
9Fatty acid degradation_Homo sapiens_hsa000712.43547096
10Biosynthesis of amino acids_Homo sapiens_hsa012302.38211757
11Non-homologous end-joining_Homo sapiens_hsa034502.32286213
12Pyruvate metabolism_Homo sapiens_hsa006202.24932569
13Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.23671693
14Ubiquitin mediated proteolysis_Homo sapiens_hsa041202.11584020
15Cysteine and methionine metabolism_Homo sapiens_hsa002702.08548402
16Folate biosynthesis_Homo sapiens_hsa007902.03105936
17Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.00880861
18Butanoate metabolism_Homo sapiens_hsa006501.98788007
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.98310264
20Alcoholism_Homo sapiens_hsa050341.90707673
21Nicotine addiction_Homo sapiens_hsa050331.88363981
22Basal transcription factors_Homo sapiens_hsa030221.86449930
23Dorso-ventral axis formation_Homo sapiens_hsa043201.84813934
24Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.82180690
25Pentose phosphate pathway_Homo sapiens_hsa000301.82088899
26Sulfur relay system_Homo sapiens_hsa041221.79775268
27Phototransduction_Homo sapiens_hsa047441.72704000
28Circadian entrainment_Homo sapiens_hsa047131.65664768
29Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.60604690
30Calcium signaling pathway_Homo sapiens_hsa040201.60558595
31Base excision repair_Homo sapiens_hsa034101.56740557
32Morphine addiction_Homo sapiens_hsa050321.51054825
33Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.46855923
34Mismatch repair_Homo sapiens_hsa034301.46420080
35Dopaminergic synapse_Homo sapiens_hsa047281.46313260
36Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.45113666
37Olfactory transduction_Homo sapiens_hsa047401.37721880
38GABAergic synapse_Homo sapiens_hsa047271.37670078
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.35841153
40mRNA surveillance pathway_Homo sapiens_hsa030151.35767075
41Steroid biosynthesis_Homo sapiens_hsa001001.34092696
42Arginine biosynthesis_Homo sapiens_hsa002201.32925996
43Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.32815417
44Cell cycle_Homo sapiens_hsa041101.31969229
45Selenocompound metabolism_Homo sapiens_hsa004501.31868079
46Fructose and mannose metabolism_Homo sapiens_hsa000511.30915092
47Cholinergic synapse_Homo sapiens_hsa047251.30656506
48Galactose metabolism_Homo sapiens_hsa000521.30646740
49Fatty acid metabolism_Homo sapiens_hsa012121.29031447
50Oxytocin signaling pathway_Homo sapiens_hsa049211.24252187
51Caffeine metabolism_Homo sapiens_hsa002321.24226987
52Long-term depression_Homo sapiens_hsa047301.23075865
53Pyrimidine metabolism_Homo sapiens_hsa002401.21351126
54Cyanoamino acid metabolism_Homo sapiens_hsa004601.18534477
55Systemic lupus erythematosus_Homo sapiens_hsa053221.16326544
56Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.15377171
57Serotonergic synapse_Homo sapiens_hsa047261.12866948
58Taste transduction_Homo sapiens_hsa047421.12306633
59Starch and sucrose metabolism_Homo sapiens_hsa005001.11884875
60Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.08640721
61Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.06826026
62Insulin signaling pathway_Homo sapiens_hsa049101.04456366
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.02553120
64Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.00661051
65Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.00539456
66Primary bile acid biosynthesis_Homo sapiens_hsa001200.99842674
67Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.99192444
68Drug metabolism - other enzymes_Homo sapiens_hsa009830.98963900
69Glutamatergic synapse_Homo sapiens_hsa047240.98756035
70One carbon pool by folate_Homo sapiens_hsa006700.97281667
71Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.95862793
72Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.95686881
73Glucagon signaling pathway_Homo sapiens_hsa049220.95161550
74Cardiac muscle contraction_Homo sapiens_hsa042600.95137683
75Thyroid cancer_Homo sapiens_hsa052160.95027818
76Fat digestion and absorption_Homo sapiens_hsa049750.94014323
77Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.92818281
78cGMP-PKG signaling pathway_Homo sapiens_hsa040220.92711463
79PPAR signaling pathway_Homo sapiens_hsa033200.92442350
80Nitrogen metabolism_Homo sapiens_hsa009100.92418348
81Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.90362343
82Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.89889207
83Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.87773866
84Peroxisome_Homo sapiens_hsa041460.86563170
85Glycerolipid metabolism_Homo sapiens_hsa005610.86083770
86Inositol phosphate metabolism_Homo sapiens_hsa005620.86057800
87RNA transport_Homo sapiens_hsa030130.85112235
88Insulin resistance_Homo sapiens_hsa049310.84394154
89Parkinsons disease_Homo sapiens_hsa050120.82441272
90Adipocytokine signaling pathway_Homo sapiens_hsa049200.81963034
91Central carbon metabolism in cancer_Homo sapiens_hsa052300.81240174
92Pancreatic secretion_Homo sapiens_hsa049720.80864574
93Tryptophan metabolism_Homo sapiens_hsa003800.79250991
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.78203975
95Purine metabolism_Homo sapiens_hsa002300.77154357
96Transcriptional misregulation in cancer_Homo sapiens_hsa052020.75923520
97N-Glycan biosynthesis_Homo sapiens_hsa005100.74414193
98RNA degradation_Homo sapiens_hsa030180.74304352
99beta-Alanine metabolism_Homo sapiens_hsa004100.72885570
100cAMP signaling pathway_Homo sapiens_hsa040240.71734590
101Cocaine addiction_Homo sapiens_hsa050300.71722814
102Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.71229901
103FoxO signaling pathway_Homo sapiens_hsa040680.71218090
104Long-term potentiation_Homo sapiens_hsa047200.71067130
105Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.70836573
106AMPK signaling pathway_Homo sapiens_hsa041520.69411285
107MAPK signaling pathway_Homo sapiens_hsa040100.68869869
108Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.68023819
109Arginine and proline metabolism_Homo sapiens_hsa003300.67015464
110Renin secretion_Homo sapiens_hsa049240.66050823
111Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.63814828
112Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.63447943
113Wnt signaling pathway_Homo sapiens_hsa043100.63288295
114Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.63088290
115Phosphatidylinositol signaling system_Homo sapiens_hsa040700.62808609
116Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.59958681
117Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.59297124
118VEGF signaling pathway_Homo sapiens_hsa043700.58774933
119Amphetamine addiction_Homo sapiens_hsa050310.58254377
120Oocyte meiosis_Homo sapiens_hsa041140.58207775
121Acute myeloid leukemia_Homo sapiens_hsa052210.57973771
122Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.57697126
123Proteasome_Homo sapiens_hsa030500.56367182
124Nucleotide excision repair_Homo sapiens_hsa034200.56083057
125Platelet activation_Homo sapiens_hsa046110.54685058
126Circadian rhythm_Homo sapiens_hsa047100.53158551
127Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.52627265
128mTOR signaling pathway_Homo sapiens_hsa041500.51599805
129Vitamin B6 metabolism_Homo sapiens_hsa007500.50594478
130Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.50162255
131Huntingtons disease_Homo sapiens_hsa050160.49478813
132ABC transporters_Homo sapiens_hsa020100.49268224
133Gap junction_Homo sapiens_hsa045400.49240132
134Melanoma_Homo sapiens_hsa052180.48739259
135Glutathione metabolism_Homo sapiens_hsa004800.48708329
136Hedgehog signaling pathway_Homo sapiens_hsa043400.48629264
137Bile secretion_Homo sapiens_hsa049760.47629615
138Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47308237
139Colorectal cancer_Homo sapiens_hsa052100.46816108
140Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.42823307
141Metabolic pathways_Homo sapiens_hsa011000.42518780
142Non-small cell lung cancer_Homo sapiens_hsa052230.40878437
143p53 signaling pathway_Homo sapiens_hsa041150.40407309
144B cell receptor signaling pathway_Homo sapiens_hsa046620.40231118
145HIF-1 signaling pathway_Homo sapiens_hsa040660.39624647
146Prolactin signaling pathway_Homo sapiens_hsa049170.39144530
147Shigellosis_Homo sapiens_hsa051310.38579886
148Homologous recombination_Homo sapiens_hsa034400.37520651
149Axon guidance_Homo sapiens_hsa043600.36611313
150Legionellosis_Homo sapiens_hsa051340.36502063
151Pancreatic cancer_Homo sapiens_hsa052120.35828897
152Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.35067484
153Neurotrophin signaling pathway_Homo sapiens_hsa047220.34897946
154Fatty acid biosynthesis_Homo sapiens_hsa000610.34769493
155Thyroid hormone signaling pathway_Homo sapiens_hsa049190.33898048
156Aldosterone synthesis and secretion_Homo sapiens_hsa049250.33597153
157Glycerophospholipid metabolism_Homo sapiens_hsa005640.32877936
158Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.31168131
159Lysine degradation_Homo sapiens_hsa003100.30828504
160Dilated cardiomyopathy_Homo sapiens_hsa054140.30495632

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