SHBG

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 steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of male gonad development (GO:2000020)8.67912252
2regulation of meiosis I (GO:0060631)8.54326136
3piRNA metabolic process (GO:0034587)8.14467615
4sex determination (GO:0007530)8.12586024
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.90912334
6L-phenylalanine catabolic process (GO:0006559)7.90912334
7complement activation, alternative pathway (GO:0006957)7.81811200
8epoxygenase P450 pathway (GO:0019373)7.66114120
9regulation of fibrinolysis (GO:0051917)7.52568819
10regulation of protein activation cascade (GO:2000257)7.46356170
11regulation of male gonad development (GO:2000018)7.40045005
12synaptonemal complex assembly (GO:0007130)7.36363674
13negative regulation of fibrinolysis (GO:0051918)7.24624075
14L-phenylalanine metabolic process (GO:0006558)7.22216493
15erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.22216493
16regulation of complement activation (GO:0030449)7.13991620
17omega-hydroxylase P450 pathway (GO:0097267)7.11919897
18synaptonemal complex organization (GO:0070193)6.84584368
19triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.81429010
20drug catabolic process (GO:0042737)6.77908799
21exogenous drug catabolic process (GO:0042738)6.64197755
22ethanol oxidation (GO:0006069)6.61756444
23glyoxylate metabolic process (GO:0046487)6.60651823
24peptidyl-glutamic acid carboxylation (GO:0017187)6.52840809
25protein carboxylation (GO:0018214)6.52840809
26sex differentiation (GO:0007548)6.20700206
27negative regulation of sterol transport (GO:0032372)6.10609000
28negative regulation of cholesterol transport (GO:0032375)6.10609000
29male meiosis (GO:0007140)5.92226048
30fibrinolysis (GO:0042730)5.89385730
31regulation of plasminogen activation (GO:0010755)5.81718090
32DNA methylation involved in gamete generation (GO:0043046)5.80081100
33regulation of triglyceride catabolic process (GO:0010896)5.78959955
34high-density lipoprotein particle remodeling (GO:0034375)5.73811845
35blood coagulation, intrinsic pathway (GO:0007597)5.67324672
36male sex determination (GO:0030238)5.61530700
37protein-lipid complex remodeling (GO:0034368)5.51381638
38macromolecular complex remodeling (GO:0034367)5.51381638
39plasma lipoprotein particle remodeling (GO:0034369)5.51381638
40urea metabolic process (GO:0019627)5.50926260
41aromatic amino acid family catabolic process (GO:0009074)5.46830399
42male meiosis I (GO:0007141)5.44316992
43drug metabolic process (GO:0017144)5.40606045
44phospholipid efflux (GO:0033700)5.37143247
45regulation of cholesterol esterification (GO:0010872)5.36356760
46fusion of sperm to egg plasma membrane (GO:0007342)5.31050054
47ethanol metabolic process (GO:0006067)5.30020954
48cholesterol efflux (GO:0033344)5.17670548
49imidazole-containing compound metabolic process (GO:0052803)5.08661397
50meiosis I (GO:0007127)5.08272722
51acute-phase response (GO:0006953)5.04755133
52poly(A)+ mRNA export from nucleus (GO:0016973)5.03758794
53regulation of gonadotropin secretion (GO:0032276)5.02586363
54positive regulation of triglyceride lipase activity (GO:0061365)5.00443350
55positive regulation of lipoprotein lipase activity (GO:0051006)5.00443350
56cellular glucuronidation (GO:0052695)4.98640092
57nitrogen cycle metabolic process (GO:0071941)4.97588650
58protein activation cascade (GO:0072376)4.94939585
59glucuronate metabolic process (GO:0019585)4.80251104
60uronic acid metabolic process (GO:0006063)4.80251104
61urea cycle (GO:0000050)4.80190382
62serine family amino acid catabolic process (GO:0009071)4.79076742
63negative regulation of meiosis (GO:0045835)4.78930583
64oxidative demethylation (GO:0070989)4.76773437
65negative regulation of macrophage differentiation (GO:0045650)4.75003167
66triglyceride homeostasis (GO:0070328)4.73536350
67acylglycerol homeostasis (GO:0055090)4.73536350
68regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.70312006
69bile acid biosynthetic process (GO:0006699)4.69421508
70complement activation, classical pathway (GO:0006958)4.67595843
71meiotic nuclear division (GO:0007126)4.66998794
72tyrosine metabolic process (GO:0006570)4.66012213
73negative regulation of hemostasis (GO:1900047)4.63696807
74negative regulation of blood coagulation (GO:0030195)4.63696807
75bile acid metabolic process (GO:0008206)4.62371131
76chromosome organization involved in meiosis (GO:0070192)4.60478643
77complement activation (GO:0006956)4.59962610
78positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.59695324
79opsonization (GO:0008228)4.54076596
80very-low-density lipoprotein particle assembly (GO:0034379)4.53746336
81oocyte development (GO:0048599)4.52745869
82plasma lipoprotein particle assembly (GO:0034377)4.51487318
83glutamate metabolic process (GO:0006536)4.48622306
84glycine metabolic process (GO:0006544)4.43795724
85negative regulation of protein activation cascade (GO:2000258)4.42998849
86intestinal cholesterol absorption (GO:0030299)4.34767709
87regulation of humoral immune response (GO:0002920)4.31973148
88plasma lipoprotein particle clearance (GO:0034381)4.31841306
89anatomical structure regression (GO:0060033)4.31081355
90plasma lipoprotein particle organization (GO:0071827)4.29734383
91negative regulation of coagulation (GO:0050819)4.23708917
92negative regulation of wound healing (GO:0061045)4.17540416
93negative regulation of lipase activity (GO:0060192)4.16001174
94mitotic chromosome condensation (GO:0007076)4.14123313
95phenylpropanoid metabolic process (GO:0009698)4.13038832
96regulation of apoptotic cell clearance (GO:2000425)4.10672450
97protein-lipid complex assembly (GO:0065005)4.07517055
98protein-lipid complex subunit organization (GO:0071825)4.07068963
99bile acid and bile salt transport (GO:0015721)4.04297935
100low-density lipoprotein particle remodeling (GO:0034374)4.03804555
101mitotic metaphase plate congression (GO:0007080)4.01998587
102negative regulation of retinoic acid receptor signaling pathway (GO:0048387)4.01422278
103vitamin transmembrane transport (GO:0035461)3.98019335
104regulation of nucleobase-containing compound transport (GO:0032239)3.94128662
105regulation of RNA export from nucleus (GO:0046831)3.93775820
106positive regulation of blood coagulation (GO:0030194)3.87020109
107positive regulation of hemostasis (GO:1900048)3.87020109
108monoubiquitinated protein deubiquitination (GO:0035520)3.87013909
109heme transport (GO:0015886)3.86222794
110S-adenosylmethionine metabolic process (GO:0046500)3.85923684
111positive regulation of fatty acid biosynthetic process (GO:0045723)3.85867395
112positive regulation of lipid catabolic process (GO:0050996)3.85615131
113cytolysis (GO:0019835)3.84517992
114disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.81587667
115killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.81587667
116acute inflammatory response (GO:0002526)3.77873906
117gene silencing by RNA (GO:0031047)3.77307709
118oogenesis (GO:0048477)3.77242678
119nuclear pore organization (GO:0006999)3.77222323
120plasma membrane fusion (GO:0045026)3.75924087
121nuclear pore complex assembly (GO:0051292)3.75143175
122meiotic cell cycle process (GO:1903046)3.73584505
123regulation of female gonad development (GO:2000194)3.71261126
124response to misfolded protein (GO:0051788)3.70516215
125flavonoid metabolic process (GO:0009812)3.70409057
126cellular ketone body metabolic process (GO:0046950)3.69761480
127hormone catabolic process (GO:0042447)3.68995869
128alpha-amino acid catabolic process (GO:1901606)3.68491120
129regulation of spindle organization (GO:0090224)3.68181929
130amino-acid betaine metabolic process (GO:0006577)3.68049915
131fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.64373079
132female gamete generation (GO:0007292)3.62641392
133lipoprotein metabolic process (GO:0042157)3.61811014
134serine family amino acid biosynthetic process (GO:0009070)3.60857525
135fat-soluble vitamin biosynthetic process (GO:0042362)3.59412919
136hemoglobin metabolic process (GO:0020027)3.58183482
137proline metabolic process (GO:0006560)3.56473239
138Leydig cell differentiation (GO:0033327)3.55224635
139positive regulation of coagulation (GO:0050820)3.55182042
140cholesterol homeostasis (GO:0042632)3.54049428
141purine nucleobase biosynthetic process (GO:0009113)3.53444324
142aromatic amino acid family metabolic process (GO:0009072)3.51364531
143ovulation cycle (GO:0042698)3.44170643
144positive regulation of meiosis (GO:0045836)3.36869076
145glomerular basement membrane development (GO:0032836)3.36553160
146DNA synthesis involved in DNA repair (GO:0000731)3.34866874
147protein localization to kinetochore (GO:0034501)3.33695995
148G1 DNA damage checkpoint (GO:0044783)3.32716211
149DNA replication checkpoint (GO:0000076)3.31715824
150positive regulation of meiotic cell cycle (GO:0051446)3.31551800
151positive regulation of chromosome segregation (GO:0051984)3.27706561
152mitotic G1 DNA damage checkpoint (GO:0031571)3.27226669
153seminiferous tubule development (GO:0072520)3.23580442
154oocyte maturation (GO:0001556)3.23381955
155astrocyte development (GO:0014002)3.22112748
156meiotic chromosome segregation (GO:0045132)3.20242774
157metaphase plate congression (GO:0051310)3.19842007
158positive regulation of reproductive process (GO:2000243)3.12715474
159regulation of chromosome segregation (GO:0051983)3.10378392
160histone H4-K5 acetylation (GO:0043981)3.08232212
161histone H4-K8 acetylation (GO:0043982)3.08232212
162meiotic cell cycle (GO:0051321)3.07716281
163reciprocal meiotic recombination (GO:0007131)3.07192975
164reciprocal DNA recombination (GO:0035825)3.07192975
165attachment of spindle microtubules to kinetochore (GO:0008608)3.04559456
166regulation of meiosis (GO:0040020)3.03669735
167DNA replication-dependent nucleosome assembly (GO:0006335)2.99929740
168DNA replication-dependent nucleosome organization (GO:0034723)2.99929740
169protein localization to chromosome, centromeric region (GO:0071459)2.99609932
170spermatid development (GO:0007286)2.98535740
171nucleobase biosynthetic process (GO:0046112)2.98533449
172DNA methylation (GO:0006306)2.98400192
173DNA alkylation (GO:0006305)2.98400192
174regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.98046548
175macroautophagy (GO:0016236)2.97328864
176regulation of mitotic spindle organization (GO:0060236)2.90144664
177histone exchange (GO:0043486)2.87852872
178histone H3-K36 demethylation (GO:0070544)2.83396428
179germ cell development (GO:0007281)2.83147817
180reverse cholesterol transport (GO:0043691)2.81516247
181regulation of retinoic acid receptor signaling pathway (GO:0048385)2.80755946
182ribosome assembly (GO:0042255)2.80659315
183histone H3-K9 demethylation (GO:0033169)2.80546347
184spindle checkpoint (GO:0031577)2.80284819
185gene silencing (GO:0016458)2.79962547
186receptor guanylyl cyclase signaling pathway (GO:0007168)2.79738332
187positive regulation of receptor biosynthetic process (GO:0010870)2.78953873
188mitotic G1/S transition checkpoint (GO:0044819)2.77758241
189resolution of meiotic recombination intermediates (GO:0000712)2.76715165
190negative regulation of fibroblast apoptotic process (GO:2000270)2.76590270
191regulation of cardioblast differentiation (GO:0051890)2.74885461
192mitotic nuclear envelope disassembly (GO:0007077)2.73551190
193ribosome biogenesis (GO:0042254)2.73405999
194inner cell mass cell proliferation (GO:0001833)2.72881610
195pore complex assembly (GO:0046931)2.72506930
196histone H2A monoubiquitination (GO:0035518)2.72325842
197mitotic spindle checkpoint (GO:0071174)2.68447785
198protein localization to chromosome (GO:0034502)2.68418903
199gonadal mesoderm development (GO:0007506)12.8078618

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse6.52396613
2EGR1_23403033_ChIP-Seq_LIVER_Mouse6.23284392
3FOXM1_23109430_ChIP-Seq_U2OS_Human5.78948641
4E2F7_22180533_ChIP-Seq_HELA_Human5.63403505
5PPARA_22158963_ChIP-Seq_LIVER_Mouse5.56220947
6MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse5.37521053
7LXR_22158963_ChIP-Seq_LIVER_Mouse5.30388013
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.93844482
9FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.40307345
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.20520708
11PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.00422699
12ZNF263_19887448_ChIP-Seq_K562_Human3.70029438
13NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.57388664
14E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.18488657
15AR_21909140_ChIP-Seq_LNCAP_Human3.15245736
16FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.08834549
17BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.00805163
18E2F4_17652178_ChIP-ChIP_JURKAT_Human2.96495078
19* HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.85243034
20KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.67068834
21HNF4A_19822575_ChIP-Seq_HepG2_Human2.50816375
22FOXA2_19822575_ChIP-Seq_HepG2_Human2.47560703
23CREB1_15753290_ChIP-ChIP_HEK293T_Human2.42285531
24MYC_18555785_ChIP-Seq_MESCs_Mouse2.40634599
25MYCN_18555785_ChIP-Seq_MESCs_Mouse2.19746725
26MYC_19079543_ChIP-ChIP_MESCs_Mouse2.17231479
27CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.13753076
28CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.08713107
29NELFA_20434984_ChIP-Seq_ESCs_Mouse2.07251527
30KDM5A_27292631_Chip-Seq_BREAST_Human2.01511919
31ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.3403966
32SALL1_21062744_ChIP-ChIP_HESCs_Human1.95804147
33E2F1_21310950_ChIP-Seq_MCF-7_Human1.90285243
34CLOCK_20551151_ChIP-Seq_293T_Human1.89816799
35KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.88396797
36KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.88396797
37KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.88396797
38ETS1_20019798_ChIP-Seq_JURKAT_Human1.86514354
39TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.86341943
40EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.80876593
41POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.72973080
42THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.71852817
43KLF4_18555785_ChIP-Seq_MESCs_Mouse1.71566673
44CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.63416419
45MYC_19030024_ChIP-ChIP_MESCs_Mouse1.58789986
46TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.57096405
47XRN2_22483619_ChIP-Seq_HELA_Human1.55441636
48ZFX_18555785_ChIP-Seq_MESCs_Mouse1.52515574
49MYC_18358816_ChIP-ChIP_MESCs_Mouse1.52448547
50MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.52381576
51GATA1_22025678_ChIP-Seq_K562_Human1.50370417
52KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.49038191
53GABP_19822575_ChIP-Seq_HepG2_Human1.43592807
54CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.41075700
55EGR1_19374776_ChIP-ChIP_THP-1_Human1.37479773
56CHD1_26751641_Chip-Seq_LNCaP_Human1.37063089
57PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.36256054
58JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.35007222
59GATA4_25053715_ChIP-Seq_YYC3_Human1.34946860
60DCP1A_22483619_ChIP-Seq_HELA_Human1.33125018
61PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.32401265
62TP63_19390658_ChIP-ChIP_HaCaT_Human1.28800791
63HTT_18923047_ChIP-ChIP_STHdh_Human1.28638184
64DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.28347105
65KAP1_22055183_ChIP-Seq_ESCs_Mouse1.25927037
66NCOR1_26117541_ChIP-Seq_K562_Human1.25682251
67NANOG_18555785_ChIP-Seq_MESCs_Mouse1.19119074
68CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.18592258
69TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.18547644
70RXRA_24833708_ChIP-Seq_LIVER_Mouse1.18448031
71NANOG_21062744_ChIP-ChIP_HESCs_Human1.18227887
72CDX2_20551321_ChIP-Seq_CACO-2_Human1.17517333
73RARG_19884340_ChIP-ChIP_MEFs_Mouse1.15271250
74GATA1_26923725_Chip-Seq_HPCs_Mouse1.15145327
75TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.14130321
76EST1_17652178_ChIP-ChIP_JURKAT_Human1.13675632
77E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.13640898
78CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.12629142
79LXR_22292898_ChIP-Seq_THP-1_Human1.12522903
80TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.11453226
81VDR_23849224_ChIP-Seq_CD4+_Human1.11266224
82PADI4_21655091_ChIP-ChIP_MCF-7_Human1.10280440
83NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.09611941
84MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.08608950
85GABP_17652178_ChIP-ChIP_JURKAT_Human1.07861799
86STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.05981229
87AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.05331873
88YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.04778483
89PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.04509207
90SALL4_18804426_ChIP-ChIP_XEN_Mouse1.04015469
91CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.03926398
92FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.02980478
93SOX2_21211035_ChIP-Seq_LN229_Human1.02980174
94ATF3_27146783_Chip-Seq_COLON_Human1.02427463
95CIITA_25753668_ChIP-Seq_RAJI_Human1.01600053
96CREB1_26743006_Chip-Seq_LNCaP_Human1.01193356
97YY1_21170310_ChIP-Seq_MESCs_Mouse1.01144376
98SOX2_27498859_Chip-Seq_STOMACH_Mouse0.99691949
99EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.98901339
100RUNX1_26923725_Chip-Seq_HPCs_Mouse0.97941333
101FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97428376
102SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.96553084
103SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.95021631
104SMC4_20622854_ChIP-Seq_HELA_Human0.94482045
105SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93391841
106FOXP3_21729870_ChIP-Seq_TREG_Human0.93010708
107E2F1_18555785_ChIP-Seq_MESCs_Mouse0.92476128
108TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.90923096
109FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.90622192
110CEBPB_22108803_ChIP-Seq_LS180_Human0.89498299
111E2F1_20622854_ChIP-Seq_HELA_Human0.88215991
112OCT4_19829295_ChIP-Seq_ESCs_Human0.88200860
113* CTCF_27219007_Chip-Seq_Bcells_Human0.87692567
114GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.86572083
115GATA6_25053715_ChIP-Seq_YYC3_Human0.85724087
116SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.85546612
117FOXA1_25552417_ChIP-Seq_VCAP_Human0.84637548
118PKCTHETA_26484144_Chip-Seq_BREAST_Human0.84416007
119TAF2_19829295_ChIP-Seq_ESCs_Human0.83942715
120* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.83935358
121P300_27058665_Chip-Seq_ZR-75-30cells_Human0.83769916
122STAT3_1855785_ChIP-Seq_MESCs_Mouse0.83685932
123* ELF1_20517297_ChIP-Seq_JURKAT_Human0.83413684
124ETS1_21867929_ChIP-Seq_TH2_Mouse0.83171196
125RARB_24833708_ChIP-Seq_LIVER_Mouse0.83068108
126SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.82985325
127POU5F1_16153702_ChIP-ChIP_HESCs_Human0.82972485
128KDM2B_26808549_Chip-Seq_DND41_Human0.82908059
129EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.82695950
130HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.82134289
131POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.81945510
132PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.81807088
133AUTS2_25519132_ChIP-Seq_293T-REX_Human0.81592003
134CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.81110725
135* RARA_24833708_ChIP-Seq_LIVER_Mouse0.80865387
136TRIM28_21343339_ChIP-Seq_HEK293_Human0.80784164
137IKZF1_21737484_ChIP-ChIP_HCT116_Human0.80503652
138DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.80335056
139ESR1_15608294_ChIP-ChIP_MCF-7_Human0.80191485
140KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.79475728
141TCF7_22412390_ChIP-Seq_EML_Mouse0.79360534
142ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.79139746
143RAC3_21632823_ChIP-Seq_H3396_Human0.79056449
144ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.78791641
145PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.78062027
146OCT4_20526341_ChIP-Seq_ESCs_Human0.77671466
147RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.77431759
148CBP_21632823_ChIP-Seq_H3396_Human0.76586349
149TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.76237925
150RUNX1_27514584_Chip-Seq_MCF-7_Human0.76084102
151TBX5_21415370_ChIP-Seq_HL-1_Mouse0.76006771
152CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.75807463
153AR_20517297_ChIP-Seq_VCAP_Human0.74813606
154ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.74604598
155TCF4_18268006_ChIP-ChIP_LS174T_Human0.74024643
156PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.73588247
157MYC_19829295_ChIP-Seq_ESCs_Human0.72936450
158BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.72866003
159STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.72853347
160* JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.72659611
161ETV2_25802403_ChIP-Seq_MESCs_Mouse0.72410455
162* BCOR_27268052_Chip-Seq_Bcells_Human0.71884840
163BCL6_27268052_Chip-Seq_Bcells_Human0.71722677
164DNAJC2_21179169_ChIP-ChIP_NT2_Human0.71595724
165P53_21459846_ChIP-Seq_SAOS-2_Human0.70121759
166TET1_21451524_ChIP-Seq_MESCs_Mouse0.69857562
167P68_20966046_ChIP-Seq_HELA_Human0.69308907
168P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.67544933
169PHF8_20622854_ChIP-Seq_HELA_Human0.66490787
170YY1_22570637_ChIP-Seq_MALME-3M_Human0.66424871
171* NANOG_20526341_ChIP-Seq_ESCs_Human0.65879006
172CTCF_20526341_ChIP-Seq_ESCs_Human0.64050678
173LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.63841774
174SPI1_20517297_ChIP-Seq_HL60_Human0.63840572
175FOXH1_21741376_ChIP-Seq_ESCs_Human0.63650849
176SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.63085118
177NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.62900038
178ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.61430884
179IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.61419568
180* NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.61168413
181* SA1_27219007_Chip-Seq_Bcells_Human0.60974914
182ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.59828537
183TP53_16413492_ChIP-PET_HCT116_Human0.59660385
184CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.57881782
185ERG_21242973_ChIP-ChIP_JURKAT_Human0.57354571
186SOX2_22085726_ChIP-Seq_NPCs_Mouse0.56896382
187CSB_26484114_Chip-Seq_FIBROBLAST_Human0.54043913
188BCAT_22108803_ChIP-Seq_LS180_Human0.54021802
189ERG_20517297_ChIP-Seq_VCAP_Human0.53769438
190* POU5F1_16518401_ChIP-PET_MESCs_Mouse0.53708975
191MYC_27129775_Chip-Seq_CORNEA_Mouse0.53465855

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.71794948
2MP0005360_urolithiasis7.19398173
3MP0008995_early_reproductive_senescence7.05227425
4MP0008877_abnormal_DNA_methylation6.28118149
5MP0005085_abnormal_gallbladder_physiolo5.87570673
6MP0005365_abnormal_bile_salt5.63846865
7MP0008875_abnormal_xenobiotic_pharmacok5.32855958
8MP0005377_hearing/vestibular/ear_phenot5.09075219
9MP0003878_abnormal_ear_physiology5.09075219
10MP0002138_abnormal_hepatobiliary_system4.03157197
11MP0001666_abnormal_nutrient_absorption3.80290510
12MP0003786_premature_aging3.64004727
13MP0003252_abnormal_bile_duct3.49443719
14MP0010329_abnormal_lipoprotein_level3.48444473
15MP0001661_extended_life_span3.04331389
16MP0002210_abnormal_sex_determination2.92185191
17MP0003123_paternal_imprinting2.90033040
18MP0003693_abnormal_embryo_hatching2.70608985
19MP0003879_abnormal_hair_cell2.63323371
20MP0003195_calcinosis2.61177115
21MP0003315_abnormal_perineum_morphology2.59484982
22MP0003868_abnormal_feces_composition2.54189503
23MP0003111_abnormal_nucleus_morphology2.53964232
24MP0001929_abnormal_gametogenesis2.52681061
25MP0001145_abnormal_male_reproductive2.51701880
26MP0002102_abnormal_ear_morphology2.39074825
27MP0005647_abnormal_sex_gland2.33987367
28MP0005332_abnormal_amino_acid2.29497738
29MP0008057_abnormal_DNA_replication2.24776771
30MP0002876_abnormal_thyroid_physiology2.22607202
31MP0000653_abnormal_sex_gland2.20709322
32MP0004147_increased_porphyrin_level2.16432847
33MP0003191_abnormal_cellular_cholesterol2.00029374
34MP0004957_abnormal_blastocyst_morpholog1.99773046
35MP0010094_abnormal_chromosome_stability1.95155007
36MP0003698_abnormal_male_reproductive1.93819343
37MP0003077_abnormal_cell_cycle1.91318982
38MP0002118_abnormal_lipid_homeostasis1.89160813
39MP0001727_abnormal_embryo_implantation1.88003114
40MP0000609_abnormal_liver_physiology1.87107125
41MP0009697_abnormal_copulation1.85512478
42MP0005410_abnormal_fertilization1.81527720
43MP0003718_maternal_effect1.80160727
44MP0004019_abnormal_vitamin_homeostasis1.73157366
45MP0002160_abnormal_reproductive_system1.70817485
46MP0001764_abnormal_homeostasis1.67661596
47MP0010368_abnormal_lymphatic_system1.65826843
48MP0003806_abnormal_nucleotide_metabolis1.61986354
49MP0009278_abnormal_bone_marrow1.61711453
50MP0005670_abnormal_white_adipose1.57143431
51MP0010307_abnormal_tumor_latency1.54002688
52MP0001730_embryonic_growth_arrest1.49533509
53MP0009384_cardiac_valve_regurgitation1.43777976
54MP0003936_abnormal_reproductive_system1.43567140
55MP0003045_fibrosis1.41023408
56MP0008007_abnormal_cellular_replicative1.37171339
57MP0008058_abnormal_DNA_repair1.36604745
58MP0008260_abnormal_autophagy1.33900204
59MP0005076_abnormal_cell_differentiation1.33110538
60MP0005395_other_phenotype1.32779885
61MP0003567_abnormal_fetal_cardiomyocyte1.26898797
62MP0005389_reproductive_system_phenotype1.25594707
63MP0001119_abnormal_female_reproductive1.24876435
64MP0002161_abnormal_fertility/fecundity1.24109606
65MP0004084_abnormal_cardiac_muscle1.17737475
66MP0005319_abnormal_enzyme/_coenzyme1.17615594
67MP0005408_hypopigmentation1.12391887
68MP0003656_abnormal_erythrocyte_physiolo1.09399583
69MP0009643_abnormal_urine_homeostasis1.08955419
70MP0003115_abnormal_respiratory_system1.05645964
71MP0003121_genomic_imprinting1.05547841
72MP0000598_abnormal_liver_morphology1.04922131
73MP0002971_abnormal_brown_adipose1.04416267
74MP0002132_abnormal_respiratory_system1.04305893
75MP0000604_amyloidosis1.04123861
76MP0000566_synostosis1.04020617
77MP0000383_abnormal_hair_follicle1.03744552
78MP0005310_abnormal_salivary_gland1.02229718
79MP0001545_abnormal_hematopoietic_system1.00120630
80MP0005397_hematopoietic_system_phenotyp1.00120630
81MP0003699_abnormal_female_reproductive1.00017766
82MP0006138_congestive_heart_failure0.99496402
83MP0005584_abnormal_enzyme/coenzyme_acti0.98810284
84MP0002168_other_aberrant_phenotype0.98228770
85MP0005380_embryogenesis_phenotype0.97768005
86MP0001672_abnormal_embryogenesis/_devel0.97768005
87MP0009764_decreased_sensitivity_to0.97110086
88MP0000350_abnormal_cell_proliferation0.95975296
89MP0002089_abnormal_postnatal_growth/wei0.95643019
90MP0004742_abnormal_vestibular_system0.95263102
91MP0003221_abnormal_cardiomyocyte_apopto0.93782387
92MP0009642_abnormal_blood_homeostasis0.92933399
93MP0005636_abnormal_mineral_homeostasis0.92519700
94MP0004197_abnormal_fetal_growth/weight/0.91401411
95MP0001958_emphysema0.91337564
96MP0003136_yellow_coat_color0.90145688
97MP0002249_abnormal_larynx_morphology0.89320534
98MP0003011_delayed_dark_adaptation0.88997941
99MP0008932_abnormal_embryonic_tissue0.88018061
100MP0000639_abnormal_adrenal_gland0.86176710
101MP0001915_intracranial_hemorrhage0.84656866
102MP0000428_abnormal_craniofacial_morphol0.83559799
103MP0001440_abnormal_grooming_behavior0.83000677
104MP0003984_embryonic_growth_retardation0.82961837
105MP0009672_abnormal_birth_weight0.80162954
106MP0002088_abnormal_embryonic_growth/wei0.80087331
107MP0003122_maternal_imprinting0.77637076
108MP0002086_abnormal_extraembryonic_tissu0.77635377
109MP0009053_abnormal_anal_canal0.77415151
110MP0001697_abnormal_embryo_size0.76972422
111MP0008469_abnormal_protein_level0.76708637
112MP0003186_abnormal_redox_activity0.75996085
113MP0002282_abnormal_trachea_morphology0.75323285
114MP0009763_increased_sensitivity_to0.74291556
115MP0002084_abnormal_developmental_patter0.73613196
116MP0002080_prenatal_lethality0.73468710
117MP0005376_homeostasis/metabolism_phenot0.70909422
118MP0010678_abnormal_skin_adnexa0.69667493
119MP0009115_abnormal_fat_cell0.69202250
120MP0005409_darkened_coat_color0.69167952
121MP0003119_abnormal_digestive_system0.69064983
122MP0002085_abnormal_embryonic_tissue0.67535850
123MP0009703_decreased_birth_body0.67188865
124MP0008872_abnormal_physiological_respon0.66406405
125MP0005187_abnormal_penis_morphology0.66029172
126MP0000569_abnormal_digit_pigmentation0.65310666
127MP0004272_abnormal_basement_membrane0.65245530
128MP0005334_abnormal_fat_pad0.64956327
129MP0001485_abnormal_pinna_reflex0.64755599
130MP0005464_abnormal_platelet_physiology0.63660512
131MP0002078_abnormal_glucose_homeostasis0.63508323
132MP0005448_abnormal_energy_balance0.60150203
133MP0000537_abnormal_urethra_morphology0.60122661
134MP0002009_preneoplasia0.59770694
135MP0005167_abnormal_blood-brain_barrier0.58569485
136MP0002653_abnormal_ependyma_morphology0.58312452
137MP0001851_eye_inflammation0.56853158
138MP0001919_abnormal_reproductive_system0.56770172
139MP0005058_abnormal_lysosome_morphology0.56351628
140MP0003705_abnormal_hypodermis_morpholog0.56022641
141MP0005171_absent_coat_pigmentation0.55933474
142MP0005535_abnormal_body_temperature0.53744066
143MP0004885_abnormal_endolymph0.53554088
144MP0000647_abnormal_sebaceous_gland0.53092609
145MP0002092_abnormal_eye_morphology0.53008407
146MP0000751_myopathy0.51858315
147MP0009333_abnormal_splenocyte_physiolog0.51825379
148MP0000313_abnormal_cell_death0.49958679
149MP0005451_abnormal_body_composition0.49863268
150MP0002837_dystrophic_cardiac_calcinosis0.49543172
151MP0004036_abnormal_muscle_relaxation0.49410276
152MP0009379_abnormal_foot_pigmentation0.49376382
153MP0003866_abnormal_defecation0.49077120
154MP0009840_abnormal_foam_cell0.49006035
155MP0000427_abnormal_hair_cycle0.48498665
156MP0005023_abnormal_wound_healing0.47407371
157MP0000678_abnormal_parathyroid_gland0.47374398
158MP0002136_abnormal_kidney_physiology0.46616089
159MP0005621_abnormal_cell_physiology0.46350825
160MP0003646_muscle_fatigue0.45523010
161MP0004130_abnormal_muscle_cell0.45154559
162MP0006292_abnormal_olfactory_placode0.43775374
163MP0005220_abnormal_exocrine_pancreas0.43477500
164MP0003953_abnormal_hormone_level0.43229428
165MP0003890_abnormal_embryonic-extraembry0.42463249
166MP0004808_abnormal_hematopoietic_stem0.42316769
167MP0005084_abnormal_gallbladder_morpholo0.40243202
168MP0009765_abnormal_xenobiotic_induced0.39773858
169MP0000249_abnormal_blood_vessel0.39690629
170MP0009785_altered_susceptibility_to0.39302778
171MP0008874_decreased_physiological_sensi0.38291912
172MP0003638_abnormal_response/metabolism_0.36514948
173MP0005666_abnormal_adipose_tissue0.35669435
174MP0001986_abnormal_taste_sensitivity0.35621257
175MP0002938_white_spotting0.34291329
176MP0001756_abnormal_urination0.33255497
177MP0003690_abnormal_glial_cell0.31923796
178MP0001293_anophthalmia0.30100788
179MP0005266_abnormal_metabolism0.29690519
180MP0002970_abnormal_white_adipose0.28136032
181MP0006036_abnormal_mitochondrial_physio0.27821766
182MP0005164_abnormal_response_to0.27489362
183MP0003329_amyloid_beta_deposits0.27436932
184MP0002697_abnormal_eye_size0.27151814

Predicted human phenotypes

RankGene SetZ-score
1Male infertility (HP:0003251)9.78049769
2Deep venous thrombosis (HP:0002625)9.37342998
3Abnormality of monocarboxylic acid metabolism (HP:0010996)9.36795124
4Complement deficiency (HP:0004431)9.34717226
5Gonadal dysgenesis (HP:0000133)8.93631379
6Prolonged partial thromboplastin time (HP:0003645)8.52601981
7Abnormality of aromatic amino acid family metabolism (HP:0004338)8.44774032
8Hypobetalipoproteinemia (HP:0003563)8.09254050
9Abnormality of complement system (HP:0005339)7.49285371
10Azoospermia (HP:0000027)6.67248191
11Systemic lupus erythematosus (HP:0002725)6.54916427
12Gonadotropin excess (HP:0000837)6.45773725
13Joint hemorrhage (HP:0005261)6.43479867
14Male pseudohermaphroditism (HP:0000037)6.17874528
15Abnormal spermatogenesis (HP:0008669)5.65083420
16Hyperlipoproteinemia (HP:0010980)5.63273012
17Abnormal sex determination (HP:0012244)5.49353741
18Sex reversal (HP:0012245)5.49353741
19Abnormality of male internal genitalia (HP:0000022)5.39064105
20Conjugated hyperbilirubinemia (HP:0002908)5.36775200
21Xanthomatosis (HP:0000991)5.23095965
22Glomerulonephritis (HP:0000099)5.08099490
23Testicular neoplasm (HP:0010788)4.90711337
24Hypolipoproteinemia (HP:0010981)4.75891839
25Intrahepatic cholestasis (HP:0001406)4.72823214
26Abnormality of the common coagulation pathway (HP:0010990)4.67207363
27Hypoplasia of the uterus (HP:0000013)4.59052337
28Secondary amenorrhea (HP:0000869)4.42156646
29Infertility (HP:0000789)4.15113426
30Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.07586047
31Ankle contracture (HP:0006466)3.95434038
32Recurrent gram-negative bacterial infections (HP:0005420)3.91751349
33Abnormality of pyrimidine metabolism (HP:0004353)3.89483022
34Abnormality of glutamine family amino acid metabolism (HP:0010902)3.89061259
35Impulsivity (HP:0100710)3.82905017
36Hand muscle atrophy (HP:0009130)3.80463566
37Tongue fasciculations (HP:0001308)3.77279077
3811 pairs of ribs (HP:0000878)3.75752956
39Nausea (HP:0002018)3.65598588
40Nephritis (HP:0000123)3.62437416
41Muscle fibrillation (HP:0010546)3.57063005
42Fat malabsorption (HP:0002630)3.53958568
43Abnormality of the intrinsic pathway (HP:0010989)3.53788492
44Metaphyseal cupping (HP:0003021)3.50488546
45Aplasia/hypoplasia of the uterus (HP:0008684)3.40257892
46Abnormality of the lower motor neuron (HP:0002366)3.37595196
47Diaphragmatic weakness (HP:0009113)3.34198235
48Hypoalphalipoproteinemia (HP:0003233)3.25091880
49Premature ovarian failure (HP:0008209)3.21297292
50Hypercholesterolemia (HP:0003124)3.11042190
51Hemorrhage of the eye (HP:0011885)3.09429641
52Gingival bleeding (HP:0000225)3.07673889
53Purpura (HP:0000979)2.98418342
54Rectal prolapse (HP:0002035)2.97985714
55Facial diplegia (HP:0001349)2.95785628
56Oligodactyly (HP:0012165)2.93095706
57Breast hypoplasia (HP:0003187)2.87802555
58Hyperammonemia (HP:0001987)2.85898587
59Upper limb amyotrophy (HP:0009129)2.82196201
60Distal upper limb amyotrophy (HP:0007149)2.82196201
61Epidermoid cyst (HP:0200040)2.81739940
62Delayed CNS myelination (HP:0002188)2.81243063
63Facial hemangioma (HP:0000329)2.77063207
64Germ cell neoplasia (HP:0100728)2.76779858
65Steatorrhea (HP:0002570)2.72830687
66Pulmonary fibrosis (HP:0002206)2.71281092
67Menorrhagia (HP:0000132)2.68751472
68Abnormality of methionine metabolism (HP:0010901)2.68355223
69Primary amenorrhea (HP:0000786)2.66689916
70Vascular calcification (HP:0004934)2.66626054
71Thrombophlebitis (HP:0004418)2.66091994
72Ankle clonus (HP:0011448)2.64183657
73Mesangial abnormality (HP:0001966)2.60353626
74Mitral stenosis (HP:0001718)2.53042551
75Rickets (HP:0002748)2.51869210
76Acanthocytosis (HP:0001927)2.50990389
77Hyperglycinemia (HP:0002154)2.48025251
78Generalized aminoaciduria (HP:0002909)2.39365192
79Birth length less than 3rd percentile (HP:0003561)2.37180862
80Abnormality of nucleobase metabolism (HP:0010932)2.35964546
81Cardiovascular calcification (HP:0011915)2.35022406
82Hypoplastic left heart (HP:0004383)2.33154439
83Osteomalacia (HP:0002749)2.32508289
84Hydroxyprolinuria (HP:0003080)2.31599645
85Abnormality of proline metabolism (HP:0010907)2.31599645
86Enlarged kidneys (HP:0000105)2.29261976
87Hyperbilirubinemia (HP:0002904)2.29212313
88Potter facies (HP:0002009)2.28517501
89Facial shape deformation (HP:0011334)2.28517501
90Hepatocellular carcinoma (HP:0001402)2.26533974
91Hypophosphatemic rickets (HP:0004912)2.25729334
92Abnormality of aspartate family amino acid metabolism (HP:0010899)2.18633602
93Female pseudohermaphroditism (HP:0010458)2.18525221
94Ureteral duplication (HP:0000073)2.18502681
95Abnormality of serum amino acid levels (HP:0003112)2.17336366
96Abnormal connection of the cardiac segments (HP:0011545)2.17105137
97Abnormal ventriculo-arterial connection (HP:0011563)2.17105137
98Transposition of the great arteries (HP:0001669)2.17105137
99Abnormality of sulfur amino acid metabolism (HP:0004339)2.15041320
100Hyperglycinuria (HP:0003108)2.14563455
101Fair hair (HP:0002286)2.13210471
102Poikilocytosis (HP:0004447)2.12661804
103Osteolytic defects of the phalanges of the hand (HP:0009771)2.09960077
104Osteolytic defects of the hand bones (HP:0009699)2.09960077
105Abnormality of the Achilles tendon (HP:0005109)2.06526907
106Selective tooth agenesis (HP:0001592)2.04931538
107Capillary hemangiomas (HP:0005306)2.03493003
108Arthropathy (HP:0003040)2.03037255
109Myopathic facies (HP:0002058)2.02537971
110Missing ribs (HP:0000921)2.02136174
111Slender long bone (HP:0003100)2.01413617
112Polycystic ovaries (HP:0000147)2.00263900
113Metabolic acidosis (HP:0001942)1.99492309
114Stridor (HP:0010307)1.97000801
115Spontaneous abortion (HP:0005268)1.96018114
116Abnormality of the calcaneus (HP:0008364)1.93442587
117Abnormality of the musculature of the hand (HP:0001421)1.92295863
118Patellar aplasia (HP:0006443)1.92146227
119Neonatal hypoglycemia (HP:0001998)1.89256684
120Pulmonary embolism (HP:0002204)1.88939616
121Retinal atrophy (HP:0001105)1.88305743
122Hyperphosphaturia (HP:0003109)1.87728793
123Hypoplastic iliac wings (HP:0002866)1.87653129
124Abnormality of vitamin metabolism (HP:0100508)1.87500379
125Shoulder girdle muscle weakness (HP:0003547)1.86882795
126Prominent nose (HP:0000448)1.86590001
127Myocardial infarction (HP:0001658)1.86577903
128Conjunctival telangiectasia (HP:0000524)1.85818349
129Occipital encephalocele (HP:0002085)1.85792137
130Pelvic girdle muscle weakness (HP:0003749)1.85715361
131Skin nodule (HP:0200036)1.85696110
132Clonus (HP:0002169)1.84844356
133Abnormality of the anterior horn cell (HP:0006802)1.84823948
134Degeneration of anterior horn cells (HP:0002398)1.84823948
135Glycosuria (HP:0003076)1.84722680
136Abnormality of urine glucose concentration (HP:0011016)1.84722680
137Aplasia/Hypoplasia of the patella (HP:0006498)1.83613319
138Elevated alkaline phosphatase (HP:0003155)1.83559417
139Amyloidosis (HP:0011034)1.82910531
140Abnormality of iron homeostasis (HP:0011031)1.82415284
141Abnormality of alkaline phosphatase activity (HP:0004379)1.82269653
142Tetraplegia (HP:0002445)1.81591179
143Ketosis (HP:0001946)1.81097906
144Abnormal enzyme/coenzyme activity (HP:0012379)1.80158766
145Childhood onset (HP:0011463)1.80082813
146Increased serum ferritin (HP:0003281)1.79620570
147Chromosomal breakage induced by crosslinking agents (HP:0003221)1.78529357
148Limb-girdle muscle weakness (HP:0003325)1.75509911
149Renovascular hypertension (HP:0100817)1.75273787
150Abnormality of glycine metabolism (HP:0010895)1.73558768
151Abnormality of serine family amino acid metabolism (HP:0010894)1.73558768
152Hypoventilation (HP:0002791)1.72714218
153Abnormality of transition element cation homeostasis (HP:0011030)1.72459876
154Bladder diverticulum (HP:0000015)1.70950769
155Amyotrophic lateral sclerosis (HP:0007354)1.69834411
156Epistaxis (HP:0000421)1.69822785
157Megaloblastic anemia (HP:0001889)1.69364376
158Chromsome breakage (HP:0040012)1.66312314
159Joint swelling (HP:0001386)1.66104597
160Hypoplastic heart (HP:0001961)1.65892506
161Abnormality of purine metabolism (HP:0004352)1.65601912
162Abnormal urine phosphate concentration (HP:0012599)1.64599175
163External ophthalmoplegia (HP:0000544)1.64097163
164Proximal placement of thumb (HP:0009623)1.63087062
165Abnormal gallbladder physiology (HP:0012438)1.62844863
166Cholecystitis (HP:0001082)1.62844863
167Fibular hypoplasia (HP:0003038)1.62467124
168Abnormal tarsal ossification (HP:0008369)1.62406995
169Premature rupture of membranes (HP:0001788)1.62076091
170Patent foramen ovale (HP:0001655)1.61647953
171Irritability (HP:0000737)1.61610502
172Gout (HP:0001997)1.61565085
173Spinal muscular atrophy (HP:0007269)1.61480738
174Nephrolithiasis (HP:0000787)1.60855976
175Entropion (HP:0000621)1.60809222
176Reduced antithrombin III activity (HP:0001976)1.59622598
177Widely patent fontanelles and sutures (HP:0004492)1.57259897
178Ectopic kidney (HP:0000086)1.56639723
179Hypophosphatemia (HP:0002148)1.55842118
180Abnormality of the labia minora (HP:0012880)1.55622149
181Polycythemia (HP:0001901)1.55562019
182Cerebral palsy (HP:0100021)1.55387116
183Abnormal delivery (HP:0001787)1.54519204
184Abnormality of the musculature of the pelvis (HP:0001469)1.53617344
185Abnormality of the hip-girdle musculature (HP:0001445)1.53617344
186Pancreatitis (HP:0001733)1.52170243
187Increased mean platelet volume (HP:0011877)1.51454146
188Oligodactyly (hands) (HP:0001180)1.50972920
189Gangrene (HP:0100758)1.50272425
190Clumsiness (HP:0002312)1.49997601
191Protrusio acetabuli (HP:0003179)1.49432342
192Stage 5 chronic kidney disease (HP:0003774)1.48583398
193Primary adrenal insufficiency (HP:0008207)1.48461708
194Abnormality of the heme biosynthetic pathway (HP:0010472)1.47670558

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN16.14485689
2CDK124.36197072
3TYRO34.05904648
4FGFR43.92417628
5WEE13.89393266
6NEK23.38880715
7WNK33.17691694
8BUB12.95656502
9CDC72.62741572
10LATS12.61683491
11CDK72.49926293
12MKNK22.43067900
13MAP3K22.38515800
14BRSK22.31061563
15BRD42.27135732
16STK32.26703057
17CSF1R2.18427086
18SIK12.17514648
19ACVR1B2.10285966
20LATS22.09493170
21CDK42.08905206
22NEK92.03580296
23PLK11.88543259
24STK381.88227390
25MET1.87794894
26ICK1.87646531
27MAPK111.85223492
28PRKD31.78568212
29CDK91.74710535
30TRIB31.72778890
31PDK41.72114786
32PDK31.72114786
33DYRK31.68266807
34TTK1.68116533
35MKNK11.65423271
36PRKAA21.64707763
37STK38L1.60750562
38BCKDK1.60324462
39PIK3CG1.53601085
40FLT31.49965589
41SRPK11.48548718
42TGFBR21.44056949
43PLK31.41632454
44BRSK11.41036971
45PDPK11.38755173
46TYK21.35263065
47FGFR31.34705714
48EPHA41.33277785
49EIF2AK11.31998600
50IRAK31.29305279
51RPS6KA41.27940112
52NTRK31.26196734
53CHEK21.26179191
54CHEK11.24404655
55CSNK1A1L1.21340500
56PIK3CA1.20885155
57PRKCG1.20703070
58PRKACG1.17918070
59NLK1.17874325
60RIPK11.17559727
61PLK41.16564258
62MUSK1.15356083
63MTOR1.14419218
64MAP3K111.11643339
65WNK11.11446502
66AURKB1.11212571
67MST1R1.10091605
68ATR1.06279485
69MAP2K21.03600123
70PTK61.02157455
71AKT31.00670650
72GRK61.00129535
73PINK10.98912190
74DAPK20.94238154
75CAMK1D0.90710094
76ATM0.90485754
77WNK40.88928396
78RET0.88318776
79MAP3K40.87105265
80SGK2230.86891623
81SGK4940.86891623
82PBK0.83625374
83KSR20.83498388
84PDK20.82721443
85MELK0.82135812
86MARK30.80011040
87TSSK60.78322322
88CDK20.77973178
89CSNK1G10.76767995
90PAK20.74473351
91CDK10.74222939
92CSNK1G30.73097424
93ERBB20.72782393
94ALK0.71679771
95FGFR20.68905309
96STK40.68491840
97SGK20.66769876
98BMX0.65518328
99KDR0.65041646
100TAF10.64276416
101LMTK20.63832847
102NME20.63802153
103STK160.61744527
104SGK30.59581610
105PDK10.59242306
106PAK40.58742691
107PTK2B0.57222435
108CDK60.57097436
109IGF1R0.56092956
110TAOK20.56005240
111PDGFRA0.55801518
112CSNK1G20.54554300
113EPHA20.54335078
114CDK30.53533456
115MAP3K10.53070424
116DDR20.51383467
117MAP3K30.50480079
118CSNK1E0.47818583
119DYRK1A0.47075286
120EPHB20.46648512
121PRKACA0.45413482
122EPHB10.45038178
123MAP2K10.44817594
124PRKCH0.44749863
125CAMK1G0.44122440
126ABL20.43940394
127CCNB10.43777080
128AURKA0.41549422
129DYRK20.41464675
130TAOK30.41343939
131GSK3B0.41218242
132TIE10.40633206
133TESK20.40398579
134MAP3K80.39012350
135PRKCZ0.38992468
136PRKG10.38990820
137PAK60.38320860
138CSNK1D0.38051199
139PAK10.37878619
140DYRK1B0.37806677
141PRKAA10.36891337
142PRKDC0.36586101
143MAPK10.36543331
144NEK10.36268337
145STK240.35232726
146CDC42BPA0.34609275
147EIF2AK30.33698615
148SGK10.33035220
149MAPK140.32800200
150PRKACB0.32773547
151PRKG20.31640816
152SRC0.31381796
153NUAK10.30863972
154FGFR10.30422216
155PRKD10.30214799
156PTK20.30089884
157PNCK0.29318884
158CSNK2A20.29294987
159EEF2K0.29121300
160MAPK100.27624448
161FER0.27248695
162MYLK0.27177700
163CHUK0.27141894
164TNK20.26831422
165MAPK80.26011548
166CSNK1A10.23681314
167MAPK30.23035306
168CSNK2A10.22691218

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007506.59507581
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.53231342
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030084.44803388
4Caffeine metabolism_Homo sapiens_hsa002324.04769272
5RNA polymerase_Homo sapiens_hsa030203.88301322
6Primary bile acid biosynthesis_Homo sapiens_hsa001203.37736183
7RNA transport_Homo sapiens_hsa030133.23693046
8Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.21370587
9Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.21131562
10Vitamin digestion and absorption_Homo sapiens_hsa049773.13439739
11Cell cycle_Homo sapiens_hsa041102.85190437
12Basal transcription factors_Homo sapiens_hsa030222.75002971
13Chemical carcinogenesis_Homo sapiens_hsa052042.71038300
14Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.68311599
15Phenylalanine metabolism_Homo sapiens_hsa003602.62644905
16Pentose and glucuronate interconversions_Homo sapiens_hsa000402.50072751
17Tyrosine metabolism_Homo sapiens_hsa003502.46526461
18mRNA surveillance pathway_Homo sapiens_hsa030152.39163645
19Histidine metabolism_Homo sapiens_hsa003402.19212319
20Drug metabolism - other enzymes_Homo sapiens_hsa009832.16804621
21Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.07708006
22Cyanoamino acid metabolism_Homo sapiens_hsa004601.93621379
23Spliceosome_Homo sapiens_hsa030401.90396714
24Small cell lung cancer_Homo sapiens_hsa052221.74586707
25Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.73040646
26Dorso-ventral axis formation_Homo sapiens_hsa043201.72047339
27Tryptophan metabolism_Homo sapiens_hsa003801.69638221
28Fatty acid biosynthesis_Homo sapiens_hsa000611.69388834
29Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.62093617
30Oocyte meiosis_Homo sapiens_hsa041141.61761815
31Bile secretion_Homo sapiens_hsa049761.56709224
32Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.56594832
33Pyrimidine metabolism_Homo sapiens_hsa002401.45479854
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.44082814
35Starch and sucrose metabolism_Homo sapiens_hsa005001.43357250
36TGF-beta signaling pathway_Homo sapiens_hsa043501.41661330
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.39112167
38Fanconi anemia pathway_Homo sapiens_hsa034601.37135214
39Complement and coagulation cascades_Homo sapiens_hsa046101.36651246
40DNA replication_Homo sapiens_hsa030301.33874934
41Fatty acid metabolism_Homo sapiens_hsa012121.30424256
42Cysteine and methionine metabolism_Homo sapiens_hsa002701.30214358
43Ovarian steroidogenesis_Homo sapiens_hsa049131.28737309
44Nucleotide excision repair_Homo sapiens_hsa034201.26591887
45Glycerophospholipid metabolism_Homo sapiens_hsa005641.26533226
46Peroxisome_Homo sapiens_hsa041461.26406160
47p53 signaling pathway_Homo sapiens_hsa041151.26168102
48Homologous recombination_Homo sapiens_hsa034401.26096555
49Staphylococcus aureus infection_Homo sapiens_hsa051501.25723239
50ECM-receptor interaction_Homo sapiens_hsa045121.25140940
51Lysine degradation_Homo sapiens_hsa003101.24392253
52Prion diseases_Homo sapiens_hsa050201.24195140
532-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.21843722
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.14584551
55Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.11163148
56Purine metabolism_Homo sapiens_hsa002301.10689014
57Arachidonic acid metabolism_Homo sapiens_hsa005901.10334704
58beta-Alanine metabolism_Homo sapiens_hsa004101.08404597
59Herpes simplex infection_Homo sapiens_hsa051681.03027896
60Pentose phosphate pathway_Homo sapiens_hsa000301.02905145
61Sulfur relay system_Homo sapiens_hsa041221.00743187
62Hedgehog signaling pathway_Homo sapiens_hsa043400.99298722
63Mineral absorption_Homo sapiens_hsa049780.95220087
64Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.94918820
65Maturity onset diabetes of the young_Homo sapiens_hsa049500.93423603
66Amoebiasis_Homo sapiens_hsa051460.93023663
67Antigen processing and presentation_Homo sapiens_hsa046120.92289352
68Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90575336
69Epstein-Barr virus infection_Homo sapiens_hsa051690.90294409
70alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.89142715
71Selenocompound metabolism_Homo sapiens_hsa004500.83139626
72One carbon pool by folate_Homo sapiens_hsa006700.81055284
73Mismatch repair_Homo sapiens_hsa034300.80076505
74Linoleic acid metabolism_Homo sapiens_hsa005910.77652196
75Biosynthesis of amino acids_Homo sapiens_hsa012300.77560697
76Fatty acid elongation_Homo sapiens_hsa000620.75793567
77RNA degradation_Homo sapiens_hsa030180.71745306
78Longevity regulating pathway - mammal_Homo sapiens_hsa042110.70442724
79ABC transporters_Homo sapiens_hsa020100.69017143
80Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.67955919
81Protein digestion and absorption_Homo sapiens_hsa049740.65860819
82Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.65605208
83Hippo signaling pathway_Homo sapiens_hsa043900.65488382
84Base excision repair_Homo sapiens_hsa034100.65388325
85PPAR signaling pathway_Homo sapiens_hsa033200.64766295
86Fatty acid degradation_Homo sapiens_hsa000710.62639254
87Fat digestion and absorption_Homo sapiens_hsa049750.62560612
88Proteasome_Homo sapiens_hsa030500.61824137
89Steroid hormone biosynthesis_Homo sapiens_hsa001400.59981618
90Pyruvate metabolism_Homo sapiens_hsa006200.59215415
91Influenza A_Homo sapiens_hsa051640.58928741
92Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56012040
93mTOR signaling pathway_Homo sapiens_hsa041500.54328285
94Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.52033733
95Glycerolipid metabolism_Homo sapiens_hsa005610.49752958
96Tight junction_Homo sapiens_hsa045300.49474812
97Arginine and proline metabolism_Homo sapiens_hsa003300.49194063
98Toxoplasmosis_Homo sapiens_hsa051450.48800737
99Regulation of autophagy_Homo sapiens_hsa041400.48730655
100Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.47972282
101Metabolic pathways_Homo sapiens_hsa011000.47552611
102Glutathione metabolism_Homo sapiens_hsa004800.47003629
103Adipocytokine signaling pathway_Homo sapiens_hsa049200.46374111
104HTLV-I infection_Homo sapiens_hsa051660.46188925
105Sulfur metabolism_Homo sapiens_hsa009200.45631817
106Fructose and mannose metabolism_Homo sapiens_hsa000510.42221825
107Other glycan degradation_Homo sapiens_hsa005110.41796355
108Renin-angiotensin system_Homo sapiens_hsa046140.41222407
109Folate biosynthesis_Homo sapiens_hsa007900.41088210
110Focal adhesion_Homo sapiens_hsa045100.40412044
111Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.40059328
112Butanoate metabolism_Homo sapiens_hsa006500.38012548
113Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.37587190
114Steroid biosynthesis_Homo sapiens_hsa001000.37384199
115Viral carcinogenesis_Homo sapiens_hsa052030.37348347
116Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.36966481
117MicroRNAs in cancer_Homo sapiens_hsa052060.36738518
118Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36638721
119Notch signaling pathway_Homo sapiens_hsa043300.35906553
120Galactose metabolism_Homo sapiens_hsa000520.33544539
121Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.32673170
122Prostate cancer_Homo sapiens_hsa052150.31813924
123Sphingolipid metabolism_Homo sapiens_hsa006000.31599578
124Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.31433159
125Insulin resistance_Homo sapiens_hsa049310.28954028
126FoxO signaling pathway_Homo sapiens_hsa040680.28803692
127Inositol phosphate metabolism_Homo sapiens_hsa005620.27333007
128Pertussis_Homo sapiens_hsa051330.27286546
129Propanoate metabolism_Homo sapiens_hsa006400.25479364
130Pathways in cancer_Homo sapiens_hsa052000.25344680
131Renal cell carcinoma_Homo sapiens_hsa052110.23646633
132AMPK signaling pathway_Homo sapiens_hsa041520.22917739
133Retinol metabolism_Homo sapiens_hsa008300.22331408
134Arginine biosynthesis_Homo sapiens_hsa002200.20767036
135Prolactin signaling pathway_Homo sapiens_hsa049170.19844804
136Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.18053210
137Basal cell carcinoma_Homo sapiens_hsa052170.17300086
138N-Glycan biosynthesis_Homo sapiens_hsa005100.16653076
139Glycosaminoglycan degradation_Homo sapiens_hsa005310.16492546
140NOD-like receptor signaling pathway_Homo sapiens_hsa046210.16020839
141Glucagon signaling pathway_Homo sapiens_hsa049220.15863361
142Axon guidance_Homo sapiens_hsa043600.15673495
143Ether lipid metabolism_Homo sapiens_hsa005650.15604074
144Carbon metabolism_Homo sapiens_hsa012000.14770771
145Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.09066727
146Nitrogen metabolism_Homo sapiens_hsa009100.01751396
147Systemic lupus erythematosus_Homo sapiens_hsa053220.00888150
148Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2199376
149Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601-0.2143682
150Serotonergic synapse_Homo sapiens_hsa04726-0.1604018
151Insulin signaling pathway_Homo sapiens_hsa04910-0.1496856
152African trypanosomiasis_Homo sapiens_hsa05143-0.1258173
153Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0809626
154Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0088497

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