BMP8B

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 secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1gonadal mesoderm development (GO:0007506)6.30091150
2regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)5.58665951
3arginine catabolic process (GO:0006527)5.48256855
4protein K6-linked ubiquitination (GO:0085020)5.02727741
5positive regulation of glycoprotein biosynthetic process (GO:0010560)4.97289469
6exogenous drug catabolic process (GO:0042738)4.93108159
7response to lipoprotein particle (GO:0055094)4.76593329
8piRNA metabolic process (GO:0034587)4.74314304
9trophoblast giant cell differentiation (GO:0060707)4.68765103
10arginine metabolic process (GO:0006525)4.68586340
11diaphragm development (GO:0060539)4.67198807
12regulation of RIG-I signaling pathway (GO:0039535)4.66324800
13response to UV-B (GO:0010224)4.63556874
14negative regulation of neurotransmitter transport (GO:0051589)4.55534491
15positive regulation of cell size (GO:0045793)4.52458109
16regulation of nuclear cell cycle DNA replication (GO:0033262)4.39458860
17positive regulation of guanylate cyclase activity (GO:0031284)4.28652894
18regulation of guanylate cyclase activity (GO:0031282)4.28192494
19cartilage morphogenesis (GO:0060536)4.23518390
20regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022354.18864971
21regulation of neurotransmitter uptake (GO:0051580)4.13843606
22drug catabolic process (GO:0042737)4.10518799
23glycerophospholipid catabolic process (GO:0046475)4.10496174
24cellular ketone body metabolic process (GO:0046950)4.07043419
25negative regulation of calcium ion transport into cytosol (GO:0010523)4.01310287
26nitric oxide mediated signal transduction (GO:0007263)3.94507675
27cell differentiation involved in embryonic placenta development (GO:0060706)3.93678162
28positive regulation of glycoprotein metabolic process (GO:1903020)3.91407701
29skeletal muscle organ development (GO:0060538)3.81183255
30peptidyl-threonine dephosphorylation (GO:0035970)3.75831783
31nuclear pore complex assembly (GO:0051292)3.75757905
32N-glycan processing (GO:0006491)3.74201310
33regulation of posttranscriptional gene silencing (GO:0060147)3.71453842
34regulation of gene silencing by miRNA (GO:0060964)3.71453842
35regulation of gene silencing by RNA (GO:0060966)3.71453842
36cardiac ventricle formation (GO:0003211)3.70515986
37fusion of sperm to egg plasma membrane (GO:0007342)3.65258557
38regulation of activation of Janus kinase activity (GO:0010533)3.62585928
39RNA-dependent DNA replication (GO:0006278)3.56757981
40macrophage chemotaxis (GO:0048246)3.53767634
41telomere maintenance via telomerase (GO:0007004)3.53450173
42N-acetylneuraminate metabolic process (GO:0006054)3.52519631
43nuclear pore organization (GO:0006999)3.52457676
44negative regulation of protein oligomerization (GO:0032460)3.48176875
45cardiac chamber formation (GO:0003207)3.48001771
46pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)3.46421915
47UMP metabolic process (GO:0046049)3.46421915
48pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)3.46421915
49UMP biosynthetic process (GO:0006222)3.46421915
50ketone body metabolic process (GO:1902224)3.46393885
51mesenchymal cell differentiation involved in kidney development (GO:0072161)3.46028055
52mesenchymal cell differentiation involved in renal system development (GO:2001012)3.46028055
53positive regulation of interleukin-1 secretion (GO:0050716)3.46017064
54negative regulation of telomere maintenance (GO:0032205)3.44176430
55thrombin receptor signaling pathway (GO:0070493)3.39932867
56trophectodermal cell differentiation (GO:0001829)3.39085130
57positive regulation of interferon-alpha production (GO:0032727)3.36590452
58replicative senescence (GO:0090399)3.33773910
59intra-S DNA damage checkpoint (GO:0031573)3.30692654
60dendritic cell chemotaxis (GO:0002407)3.30377480
61cellular protein complex localization (GO:0034629)3.29452226
62DNA methylation involved in gamete generation (GO:0043046)3.28738515
63thyroid hormone metabolic process (GO:0042403)3.27287738
64negative regulation of keratinocyte proliferation (GO:0010839)3.25253318
65regulation of mitochondrial translation (GO:0070129)3.24422271
66IMP biosynthetic process (GO:0006188)3.23686770
67negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)3.22920157
68negative regulation of protein kinase B signaling (GO:0051898)3.21925416
69positive regulation of glycolytic process (GO:0045821)3.21913105
70type B pancreatic cell development (GO:0003323)3.21434549
71negative regulation of DNA-dependent DNA replication (GO:2000104)3.21357950
72nitric oxide biosynthetic process (GO:0006809)3.19463634
73signal peptide processing (GO:0006465)3.18731089
74receptor recycling (GO:0001881)3.18183975
75positive regulation of protein homodimerization activity (GO:0090073)3.17830653
76negative regulation of potassium ion transport (GO:0043267)3.16304530
77regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)3.12008348
78DNA strand renaturation (GO:0000733)3.11485809
79protein K11-linked deubiquitination (GO:0035871)3.11332752
80regulation of interferon-alpha production (GO:0032647)3.10271331
81startle response (GO:0001964)3.10075976
82antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.09502921
83facial nerve structural organization (GO:0021612)3.08712365
84regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)3.08673741
85pore complex assembly (GO:0046931)3.07932721
86glucosamine-containing compound catabolic process (GO:1901072)3.07698516
87dendritic cell migration (GO:0036336)3.03074445
88response to parathyroid hormone (GO:0071107)3.01154921
89mammary gland epithelial cell proliferation (GO:0033598)3.01136541
90synapsis (GO:0007129)3.00970465
91keratinocyte development (GO:0003334)3.00234554
92thyroid hormone generation (GO:0006590)2.98448632
93L-fucose catabolic process (GO:0042355)2.98204776
94fucose catabolic process (GO:0019317)2.98204776
95L-fucose metabolic process (GO:0042354)2.98204776
96DNA replication checkpoint (GO:0000076)2.96272261
97pyrimidine nucleoside salvage (GO:0043097)2.95380105
98pyrimidine-containing compound salvage (GO:0008655)2.95380105
99regulation of interleukin-1 secretion (GO:0050704)2.94520909
100macroautophagy (GO:0016236)2.92964401
101regulation of hippo signaling (GO:0035330)2.91536925
102hepatocyte apoptotic process (GO:0097284)2.89004154
103neurotransmitter biosynthetic process (GO:0042136)2.87441933
104regulation of helicase activity (GO:0051095)2.86336534
105histone H3-K4 methylation (GO:0051568)2.85874743
106misfolded or incompletely synthesized protein catabolic process (GO:0006515)2.84185851
107superoxide anion generation (GO:0042554)2.83191476
108DNA replication initiation (GO:0006270)2.83127905
109regulation of protein glycosylation (GO:0060049)2.81034270
110negative regulation of DNA repair (GO:0045738)2.79795679
111lymphocyte chemotaxis (GO:0048247)2.79154002
112positive regulation of DNA-dependent DNA replication (GO:2000105)2.78999870
113negative regulation of gluconeogenesis (GO:0045721)2.77990977
114endocrine pancreas development (GO:0031018)2.77277748
115meiotic chromosome segregation (GO:0045132)2.76885945
116telomere maintenance via telomere lengthening (GO:0010833)2.75395389
117protein localization to microtubule (GO:0035372)2.75108679
118TOR signaling (GO:0031929)2.72919562
119righting reflex (GO:0060013)2.72451109
120keratan sulfate catabolic process (GO:0042340)2.71460759
121positive regulation of mRNA catabolic process (GO:0061014)2.70797677
122proline transport (GO:0015824)2.69286272
123nucleobase biosynthetic process (GO:0046112)2.67118505
124RNA destabilization (GO:0050779)2.66577131
125negative regulation of mast cell activation (GO:0033004)2.65692845
126bile acid and bile salt transport (GO:0015721)2.65340950
127positive regulation of cellular amide metabolic process (GO:0034250)2.61029455
128regulation of mRNA catabolic process (GO:0061013)2.60956592
129pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)2.60311733
130regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.59991017
131negative regulation of viral genome replication (GO:0045071)2.59937254
132ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)2.59728343
133purine nucleobase biosynthetic process (GO:0009113)2.58520506
134DNA deamination (GO:0045006)2.58515296
135proteasome assembly (GO:0043248)2.57987887
136regulation of interleukin-8 secretion (GO:2000482)2.57313191
137phosphate ion homeostasis (GO:0055062)2.55090861
138trivalent inorganic anion homeostasis (GO:0072506)2.55090861
139glandular epithelial cell development (GO:0002068)2.53055564
140embryonic heart tube development (GO:0035050)2.52573120
141nucleotide transmembrane transport (GO:1901679)2.52437707
142pantothenate metabolic process (GO:0015939)2.52041402
143positive regulation of interleukin-1 production (GO:0032732)2.50922897
144pyrimidine nucleoside monophosphate metabolic process (GO:0009129)2.50518510
145positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)2.49649170
146negative regulation of acute inflammatory response (GO:0002674)2.49131890
147regulation of keratinocyte proliferation (GO:0010837)2.48769157
148negative regulation of neurotransmitter secretion (GO:0046929)2.48698273
149positive regulation of cyclase activity (GO:0031281)2.48574201
150regulation of synapse maturation (GO:0090128)2.48093380
151positive regulation of interleukin-12 production (GO:0032735)2.46897485
152rRNA catabolic process (GO:0016075)2.46354724
153positive regulation of response to biotic stimulus (GO:0002833)2.45475477
154long-term synaptic potentiation (GO:0060291)2.45096692
155respiratory chain complex IV assembly (GO:0008535)2.44688308
156regulation of gene silencing (GO:0060968)2.44344039
157negative regulation of glycogen metabolic process (GO:0070874)2.43144453
158DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.42182158
159postsynaptic membrane organization (GO:0001941)2.41978351
160monocyte chemotaxis (GO:0002548)2.41602721
161gene silencing by RNA (GO:0031047)2.41469190
162post-embryonic morphogenesis (GO:0009886)2.41322948
163phasic smooth muscle contraction (GO:0014821)2.41297307
164negative regulation of protein tyrosine kinase activity (GO:0061099)2.40761500
165neutrophil activation (GO:0042119)2.40116716
166plasma membrane fusion (GO:0045026)2.39588328
167inositol phosphate-mediated signaling (GO:0048016)2.39146290
168positive regulation of lyase activity (GO:0051349)2.38821952
169positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)2.38158990
170nucleoside transmembrane transport (GO:1901642)2.37362815
171positive regulation of viral genome replication (GO:0045070)2.37303546
172detection of light stimulus involved in sensory perception (GO:0050962)2.37134923
173detection of light stimulus involved in visual perception (GO:0050908)2.37134923
174pinocytosis (GO:0006907)2.36874404
175DNA synthesis involved in DNA repair (GO:0000731)2.36590254
176cellular response to toxic substance (GO:0097237)2.36166064
177regulation of germinal center formation (GO:0002634)2.35052354
178positive regulation of vasodilation (GO:0045909)2.34800193
1793-UTR-mediated mRNA stabilization (GO:0070935)2.34798025
180regulation of cGMP biosynthetic process (GO:0030826)2.34634998
181nucleoside salvage (GO:0043174)2.34613486
182sphingomyelin metabolic process (GO:0006684)2.34529948
183positive regulation of interleukin-8 secretion (GO:2000484)2.34239924
184telomere maintenance via semi-conservative replication (GO:0032201)2.32845734
185cellular response to glucose starvation (GO:0042149)2.32648084
186histone H2A monoubiquitination (GO:0035518)2.32346423
187regulation of DNA-dependent DNA replication (GO:0090329)2.32196680
188positive regulation of immune response to tumor cell (GO:0002839)2.29990203
189regulation of immune response to tumor cell (GO:0002837)2.29990203
190regulation of response to tumor cell (GO:0002834)2.29990203
191positive regulation of response to tumor cell (GO:0002836)2.29990203
192positive regulation of T-helper cell differentiation (GO:0045624)2.29378171
193regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.28959988

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.67490418
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.81838759
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.79420777
4TP63_19390658_ChIP-ChIP_HaCaT_Human3.38002174
5EZH2_22144423_ChIP-Seq_EOC_Human3.36398122
6IRF8_21731497_ChIP-ChIP_J774_Mouse3.26859567
7RBPJ_22232070_ChIP-Seq_NCS_Mouse3.18742589
8IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.11419711
9IRF8_22096565_ChIP-ChIP_GC-B_Human3.05380622
10ZNF274_21170338_ChIP-Seq_K562_Hela2.92447519
11CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.61006498
12SCL_19346495_ChIP-Seq_HPC-7_Human2.42592003
13IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.38953343
14E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.37532715
15EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human2.29305833
16FLI1_27457419_Chip-Seq_LIVER_Mouse2.22820771
17E2F4_17652178_ChIP-ChIP_JURKAT_Human2.21650725
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.18034221
19GBX2_23144817_ChIP-Seq_PC3_Human2.13081887
20ESR1_21235772_ChIP-Seq_MCF-7_Human2.04857910
21PCGF2_27294783_Chip-Seq_ESCs_Mouse2.01132043
22FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.00554134
23NR3C1_21868756_ChIP-Seq_MCF10A_Human2.00004877
24CDX2_20551321_ChIP-Seq_CACO-2_Human1.97703481
25BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.97166860
26RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.91414015
27AR_21909140_ChIP-Seq_LNCAP_Human1.85734221
28STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.84590622
29AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.79714571
30KDM5A_27292631_Chip-Seq_BREAST_Human1.76804848
31NFE2_27457419_Chip-Seq_LIVER_Mouse1.74625003
32NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.74061492
33GATA1_22025678_ChIP-Seq_K562_Human1.73687728
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.70783195
35E2F1_21310950_ChIP-Seq_MCF-7_Human1.67688019
36KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.67161588
37* VDR_21846776_ChIP-Seq_THP-1_Human1.65276295
38TFEB_21752829_ChIP-Seq_HELA_Human1.64909983
39* VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.61247749
40MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.59674909
41CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.59271625
42SUZ12_27294783_Chip-Seq_NPCs_Mouse1.58792020
43EGR1_23403033_ChIP-Seq_LIVER_Mouse1.54918370
44PCGF2_27294783_Chip-Seq_NPCs_Mouse1.53830819
45BMI1_23680149_ChIP-Seq_NPCS_Mouse1.53519601
46FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.51554375
47CBP_20019798_ChIP-Seq_JUKART_Human1.51255261
48IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.51255261
49NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.50883383
50* RBPJ_21746931_ChIP-Seq_IB4_Human1.49136788
51* ETV1_20927104_ChIP-Seq_GIST48_Human1.48820044
52RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.45938027
53TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.44948379
54PPARA_22158963_ChIP-Seq_LIVER_Mouse1.44768057
55SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.42397275
56* CBX2_22325352_ChIP-Seq_293T-Rex_Human1.41450725
57EWS_26573619_Chip-Seq_HEK293_Human1.39796084
58ERA_21632823_ChIP-Seq_H3396_Human1.38483647
59AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.37786443
60TCF3_18692474_ChIP-Seq_MEFs_Mouse1.37744050
61TCF3_18692474_ChIP-Seq_MESCs_Mouse1.37382900
62STAT3_18555785_Chip-Seq_ESCs_Mouse1.36488180
63SUZ12_18555785_Chip-Seq_ESCs_Mouse1.36432352
64Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.35958544
65ZFP57_27257070_Chip-Seq_ESCs_Mouse1.35297309
66SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.35156961
67EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.34399771
68GATA3_26560356_Chip-Seq_TH2_Human1.33943488
69ELK1_19687146_ChIP-ChIP_HELA_Human1.33615017
70CTBP2_25329375_ChIP-Seq_LNCAP_Human1.33589287
71* GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.33471459
72SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.33339510
73SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.33339510
74* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.32775284
75POU3F2_20337985_ChIP-ChIP_501MEL_Human1.31622180
76* GATA6_21074721_ChIP-Seq_CACO-2_Human1.29268051
77MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.28895976
78VDR_24763502_ChIP-Seq_THP-1_Human1.27855713
79OCT4_20526341_ChIP-Seq_ESCs_Human1.26964543
80HOXB7_26014856_ChIP-Seq_BT474_Human1.26924321
81STAT3_23295773_ChIP-Seq_U87_Human1.26899717
82E2F1_18555785_Chip-Seq_ESCs_Mouse1.25929222
83EGR1_19374776_ChIP-ChIP_THP-1_Human1.24323932
84AHR_22903824_ChIP-Seq_MCF-7_Human1.22414217
85RUNX_20019798_ChIP-Seq_JUKART_Human1.21004570
86ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.20834393
87FOXA1_25552417_ChIP-Seq_VCAP_Human1.19950135
88TP53_22573176_ChIP-Seq_HFKS_Human1.19002569
89FUS_26573619_Chip-Seq_HEK293_Human1.18919367
90* PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.18691999
91* PHF8_20622853_ChIP-Seq_HELA_Human1.18534524
92HIF1A_21447827_ChIP-Seq_MCF-7_Human1.17754713
93RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.17404692
94P53_22387025_ChIP-Seq_ESCs_Mouse1.17083821
95KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.16499688
96KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.16499688
97KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.16499688
98KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.15855448
99ETS1_22383799_ChIP-Seq_G1ME_Mouse1.14887869
100SMAD_19615063_ChIP-ChIP_OVARY_Human1.14276836
101NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.13796638
102TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13199427
103ELF1_17652178_ChIP-ChIP_JURKAT_Human1.12597847
104VDR_22108803_ChIP-Seq_LS180_Human1.12539097
105EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.11523642
106* HNFA_21074721_ChIP-Seq_CACO-2_Human1.11436765
107RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10832343
108FOXM1_23109430_ChIP-Seq_U2OS_Human1.10288670
109MYC_18555785_ChIP-Seq_MESCs_Mouse1.10038340
110POU5F1_16153702_ChIP-ChIP_HESCs_Human1.09797973
111NMYC_18555785_Chip-Seq_ESCs_Mouse1.09778444
112SOX2_20726797_ChIP-Seq_SW620_Human1.09590242
113IRF1_19129219_ChIP-ChIP_H3396_Human1.09441289
114CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.08451289
115EZH2_27294783_Chip-Seq_NPCs_Mouse1.08260902
116* CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.07852525
117KAP1_22055183_ChIP-Seq_ESCs_Mouse1.07787265
118P300_18555785_Chip-Seq_ESCs_Mouse1.07705252
119STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.07535546
120NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.07210999
121CMYC_18555785_Chip-Seq_ESCs_Mouse1.06862049
122SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.06542562
123CDX2_22108803_ChIP-Seq_LS180_Human1.06191116
124SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.05941507
125GATA4_25053715_ChIP-Seq_YYC3_Human1.05417714
126IRF8_27001747_Chip-Seq_BMDM_Mouse1.05388224
127NANOG_18555785_Chip-Seq_ESCs_Mouse1.04891873
128* NFYA_21822215_ChIP-Seq_K562_Human1.04884658
129* GATA3_21878914_ChIP-Seq_MCF-7_Human1.04075613
130SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.03724961
131ARNT_22903824_ChIP-Seq_MCF-7_Human1.02949653
132* TBL1_22424771_ChIP-Seq_293T_Human1.02712868
133TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.02602976
134TCF4_18268006_ChIP-ChIP_LS174T_Human1.02432255
135VDR_24787735_ChIP-Seq_THP-1_Human1.02363333
136GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01775709
137SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.01442541
138OCT4_18555785_Chip-Seq_ESCs_Mouse1.00866424
139ELK4_26923725_Chip-Seq_MESODERM_Mouse1.00833739
140* NFYB_21822215_ChIP-Seq_K562_Human0.99918860
141MYB_26560356_Chip-Seq_TH1_Human0.99894945
142FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.99500050
143* SMRT_27268052_Chip-Seq_Bcells_Human0.99494929
144EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.99228472
145* TCF4_23295773_ChIP-Seq_U87_Human0.98655571
146TAF15_26573619_Chip-Seq_HEK293_Human0.98399632
147MYB_26560356_Chip-Seq_TH2_Human0.98252554
148CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.97792055
149NCOR_22424771_ChIP-Seq_293T_Human0.97192259
150RUNX1_27457419_Chip-Seq_LIVER_Mouse0.97179351
151ESR1_20079471_ChIP-ChIP_T-47D_Human0.97168535
152NOTCH1_21737748_ChIP-Seq_TLL_Human0.96381197
153AR_20517297_ChIP-Seq_VCAP_Human0.95905021
154MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.95767907
155KLF4_18555785_Chip-Seq_ESCs_Mouse0.95755218
156ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.95703030
157LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.95601304
158FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.95579945
159P300_27268052_Chip-Seq_Bcells_Human0.95575991
160ZFX_18555785_Chip-Seq_ESCs_Mouse0.95206810
161SOX2_27498859_Chip-Seq_STOMACH_Mouse0.95199670
162GATA3_27048872_Chip-Seq_THYMUS_Human0.95176594
163NANOG_19829295_ChIP-Seq_ESCs_Human0.93727610
164SOX2_19829295_ChIP-Seq_ESCs_Human0.93727610
165POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.93669175
166RNF2_27304074_Chip-Seq_NSC_Mouse0.93334682
167UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.93333819
168FOXA1_25329375_ChIP-Seq_VCAP_Human0.93086381
169FOXA1_27270436_Chip-Seq_PROSTATE_Human0.93086381
170ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.92373105
171GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92322328
172RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.92266088
173ER_23166858_ChIP-Seq_MCF-7_Human0.91690477
174DROSHA_22980978_ChIP-Seq_HELA_Human0.91604755
175PU1_27457419_Chip-Seq_LIVER_Mouse0.91585903
176CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.91264950
177* GATA6_25053715_ChIP-Seq_YYC3_Human0.91158785
178SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.90781044
179PRDM14_20953172_ChIP-Seq_ESCs_Human0.90624693
180TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.90069772
181SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.89902902
182ESRRB_18555785_Chip-Seq_ESCs_Mouse0.89885630
183P53_21459846_ChIP-Seq_SAOS-2_Human0.89665470
184CTCF_18555785_Chip-Seq_ESCs_Mouse0.89451125
185P53_22127205_ChIP-Seq_FIBROBLAST_Human0.88794100

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle5.40402485
2MP0004264_abnormal_extraembryonic_tissu4.94707276
3MP0003646_muscle_fatigue4.01020010
4MP0004043_abnormal_pH_regulation3.90969066
5MP0003195_calcinosis3.87354322
6MP0005645_abnormal_hypothalamus_physiol3.14693205
7MP0003283_abnormal_digestive_organ3.09068359
8MP0000566_synostosis2.96477172
9MP0008058_abnormal_DNA_repair2.88089660
10MP0001835_abnormal_antigen_presentation2.84655558
11MP0003111_abnormal_nucleus_morphology2.79399399
12MP0005167_abnormal_blood-brain_barrier2.58129992
13MP0002009_preneoplasia2.57351868
14MP0010094_abnormal_chromosome_stability2.57106625
15MP0000490_abnormal_crypts_of2.54546281
16MP0002396_abnormal_hematopoietic_system2.47090581
17MP0009785_altered_susceptibility_to2.44590102
18MP0003045_fibrosis2.37032177
19MP0002876_abnormal_thyroid_physiology2.28692120
20MP0005174_abnormal_tail_pigmentation2.26587923
21MP0004084_abnormal_cardiac_muscle2.25468996
22MP0004858_abnormal_nervous_system2.13521620
23MP0000470_abnormal_stomach_morphology2.02503722
24MP0003941_abnormal_skin_development2.02190949
25MP0005310_abnormal_salivary_gland1.95930123
26MP0003890_abnormal_embryonic-extraembry1.95552012
27MP0000015_abnormal_ear_pigmentation1.91927433
28MP0008057_abnormal_DNA_replication1.87548606
29MP0005671_abnormal_response_to1.85082255
30MP0002148_abnormal_hypersensitivity_rea1.84590281
31MP0010352_gastrointestinal_tract_polyps1.84298204
32MP0003937_abnormal_limbs/digits/tail_de1.82251082
33MP0000569_abnormal_digit_pigmentation1.79649263
34MP0003077_abnormal_cell_cycle1.78599849
35MP0005646_abnormal_pituitary_gland1.75535712
36MP0008007_abnormal_cellular_replicative1.75293235
37MP0003787_abnormal_imprinting1.70390091
38MP0009333_abnormal_splenocyte_physiolog1.66899151
39MP0001501_abnormal_sleep_pattern1.65271779
40MP0005220_abnormal_exocrine_pancreas1.64061461
41MP0005360_urolithiasis1.63093810
42MP0008775_abnormal_heart_ventricle1.61875512
43MP0001765_abnormal_ion_homeostasis1.61482983
44MP0001944_abnormal_pancreas_morphology1.58738492
45MP0002822_catalepsy1.54017851
46MP0003567_abnormal_fetal_cardiomyocyte1.53927291
47MP0003121_genomic_imprinting1.50788139
48MP0001764_abnormal_homeostasis1.50704007
49MP0004233_abnormal_muscle_weight1.49138692
50MP0008004_abnormal_stomach_pH1.47157659
51MP0002168_other_aberrant_phenotype1.44449111
52MP0004484_altered_response_of1.41892198
53MP0005332_abnormal_amino_acid1.41459371
54MP0003693_abnormal_embryo_hatching1.38959425
55MP0001188_hyperpigmentation1.36600304
56MP0010329_abnormal_lipoprotein_level1.36307648
57MP0005248_abnormal_Harderian_gland1.36252582
58MP0002909_abnormal_adrenal_gland1.35771093
59MP0002653_abnormal_ependyma_morphology1.35731590
60MP0004510_myositis1.34511911
61MP0003566_abnormal_cell_adhesion1.32522059
62MP0001661_extended_life_span1.32510736
63MP0001348_abnormal_lacrimal_gland1.32481953
64MP0002693_abnormal_pancreas_physiology1.30099807
65MP0002166_altered_tumor_susceptibility1.29083525
66MP0006292_abnormal_olfactory_placode1.28148365
67MP0005395_other_phenotype1.25948577
68MP0003786_premature_aging1.25437078
69MP0001346_abnormal_lacrimal_gland1.24595580
70MP0005365_abnormal_bile_salt1.23893712
71MP0003828_pulmonary_edema1.22548039
72MP0010307_abnormal_tumor_latency1.21949415
73MP0003718_maternal_effect1.21036741
74MP0003866_abnormal_defecation1.19066192
75MP0004019_abnormal_vitamin_homeostasis1.18700794
76MP0004133_heterotaxia1.18120318
77MP0010678_abnormal_skin_adnexa1.17129457
78MP0001756_abnormal_urination1.16692789
79MP0002837_dystrophic_cardiac_calcinosis1.16506649
80MP0009643_abnormal_urine_homeostasis1.15948673
81MP0003122_maternal_imprinting1.15785966
82MP0001873_stomach_inflammation1.15764856
83MP0002277_abnormal_respiratory_mucosa1.15114189
84MP0008872_abnormal_physiological_respon1.14647868
85MP0003123_paternal_imprinting1.14537620
86MP0004381_abnormal_hair_follicle1.13429672
87MP0005058_abnormal_lysosome_morphology1.12724811
88MP0001666_abnormal_nutrient_absorption1.11977743
89MP0000428_abnormal_craniofacial_morphol1.11756681
90MP0000427_abnormal_hair_cycle1.11404339
91MP0003879_abnormal_hair_cell1.11093881
92MP0005025_abnormal_response_to1.10009463
93MP0005408_hypopigmentation1.09931787
94MP0003136_yellow_coat_color1.09545265
95MP0000631_abnormal_neuroendocrine_gland1.09278033
96MP0005379_endocrine/exocrine_gland_phen1.09136017
97MP0002928_abnormal_bile_duct1.08823654
98MP0001986_abnormal_taste_sensitivity1.08131064
99MP0005000_abnormal_immune_tolerance1.04441395
100MP0004957_abnormal_blastocyst_morpholog1.03927959
101MP0003942_abnormal_urinary_system1.03206748
102MP0003119_abnormal_digestive_system1.02036698
103MP0003755_abnormal_palate_morphology1.00069101
104MP0005387_immune_system_phenotype0.99808900
105MP0001790_abnormal_immune_system0.99808900
106MP0000538_abnormal_urinary_bladder0.99627378
107MP0002139_abnormal_hepatobiliary_system0.99086909
108MP0005075_abnormal_melanosome_morpholog0.98862006
109MP0004036_abnormal_muscle_relaxation0.97970594
110MP0002127_abnormal_cardiovascular_syste0.97681143
111* MP0005076_abnormal_cell_differentiation0.97362192
112MP0000579_abnormal_nail_morphology0.96100033
113MP0003436_decreased_susceptibility_to0.94952829
114MP0003448_altered_tumor_morphology0.94787444
115MP0000350_abnormal_cell_proliferation0.94699009
116MP0010368_abnormal_lymphatic_system0.93741558
117MP0002452_abnormal_antigen_presenting0.93699746
118MP0002160_abnormal_reproductive_system0.93570296
119MP0005623_abnormal_meninges_morphology0.92856144
120MP0005085_abnormal_gallbladder_physiolo0.92832813
121MP0001664_abnormal_digestion0.92764148
122MP0001819_abnormal_immune_cell0.92447570
123MP0009053_abnormal_anal_canal0.92158860
124MP0002098_abnormal_vibrissa_morphology0.92136304
125MP0000613_abnormal_salivary_gland0.91271730
126MP0003763_abnormal_thymus_physiology0.90258383
127MP0002078_abnormal_glucose_homeostasis0.90232481
128MP0001800_abnormal_humoral_immune0.90100009
129MP0005551_abnormal_eye_electrophysiolog0.90086510
130MP0000465_gastrointestinal_hemorrhage0.88693585
131MP0004197_abnormal_fetal_growth/weight/0.88560010
132MP0002234_abnormal_pharynx_morphology0.87664652
133MP0001293_anophthalmia0.87545576
134MP0005083_abnormal_biliary_tract0.87324347
135MP0003385_abnormal_body_wall0.86314175
136MP0005257_abnormal_intraocular_pressure0.86277913
137MP0002420_abnormal_adaptive_immunity0.86270372
138MP0000467_abnormal_esophagus_morphology0.85883432
139MP0002419_abnormal_innate_immunity0.85277893
140MP0002118_abnormal_lipid_homeostasis0.84987648
141MP0002111_abnormal_tail_morphology0.84153036
142MP0003172_abnormal_lysosome_physiology0.83948633
143MP0002896_abnormal_bone_mineralization0.83861678
144MP0003252_abnormal_bile_duct0.83733347
145MP0000383_abnormal_hair_follicle0.82429358
146MP0008877_abnormal_DNA_methylation0.81891464
147MP0002109_abnormal_limb_morphology0.81197006
148MP0000609_abnormal_liver_physiology0.80951201
149MP0001119_abnormal_female_reproductive0.80519745
150MP0002115_abnormal_skeleton_extremities0.80513010
151MP0010155_abnormal_intestine_physiology0.79659088
152MP0009046_muscle_twitch0.79517123
153MP0001270_distended_abdomen0.78874139
154MP0005636_abnormal_mineral_homeostasis0.78828872
155MP0002970_abnormal_white_adipose0.78273423
156MP0000681_abnormal_thyroid_gland0.77736914
157MP0002006_tumorigenesis0.77075874
158MP0010030_abnormal_orbit_morphology0.76867199
159MP0000432_abnormal_head_morphology0.76518439
160MP0001663_abnormal_digestive_system0.75780915
161MP0003936_abnormal_reproductive_system0.75505537
162MP0000477_abnormal_intestine_morphology0.74947511
163MP0003868_abnormal_feces_composition0.74393700
164MP0005451_abnormal_body_composition0.74190333
165MP0009840_abnormal_foam_cell0.73569486
166MP0003953_abnormal_hormone_level0.73456680
167MP0001324_abnormal_eye_pigmentation0.73341476
168MP0006082_CNS_inflammation0.73256316
169MP0008932_abnormal_embryonic_tissue0.73208972
170MP0000516_abnormal_urinary_system0.72741579
171MP0005367_renal/urinary_system_phenotyp0.72741579
172MP0002019_abnormal_tumor_incidence0.72683233
173MP0002136_abnormal_kidney_physiology0.71977522
174MP0002163_abnormal_gland_morphology0.69483427
175MP0004742_abnormal_vestibular_system0.69410530
176MP0005171_absent_coat_pigmentation0.66820888
177MP0003943_abnormal_hepatobiliary_system0.66435142
178MP0004885_abnormal_endolymph0.63515358
179MP0005410_abnormal_fertilization0.60631150
180MP0001968_abnormal_touch/_nociception0.60440250

Predicted human phenotypes

RankGene SetZ-score
1Increased density of long bones (HP:0006392)6.30035052
2Elevated circulating parathyroid hormone (PTH) level (HP:0003165)6.20010707
3Chromosomal breakage induced by crosslinking agents (HP:0003221)5.35201099
4Hypophosphatemic rickets (HP:0004912)5.12108084
5Papilledema (HP:0001085)4.85904305
6Chromsome breakage (HP:0040012)4.77594611
7Aplasia/Hypoplasia of the uvula (HP:0010293)3.82876132
8Ketoacidosis (HP:0001993)3.80208304
9Clubbing of toes (HP:0100760)3.78969817
1011 pairs of ribs (HP:0000878)3.74626560
11Abnormality of the anterior horn cell (HP:0006802)3.70993988
12Degeneration of anterior horn cells (HP:0002398)3.70993988
13Abnormality of the preputium (HP:0100587)3.58301602
14Lower limb hyperreflexia (HP:0002395)3.56742889
15Curly hair (HP:0002212)3.49646134
16Spinal muscular atrophy (HP:0007269)3.47399497
17Abnormality of calcium-phosphate metabolism (HP:0100530)3.46644180
18Sparse lateral eyebrow (HP:0005338)3.43256959
19Abnormality of DNA repair (HP:0003254)3.36446330
20Ectopic kidney (HP:0000086)3.33454364
21Intestinal fistula (HP:0100819)3.33089097
22Lip pit (HP:0100267)3.31028749
23Short nail (HP:0001799)3.22502557
24Pili torti (HP:0003777)3.11121571
25Hypoglycemic coma (HP:0001325)3.09091938
26Meckel diverticulum (HP:0002245)3.05786681
27Congenital sensorineural hearing impairment (HP:0008527)2.97002199
28High anterior hairline (HP:0009890)2.96870503
29Polydipsia (HP:0001959)2.96365706
30Abnormal drinking behavior (HP:0030082)2.96365706
31Abnormality of chromosome stability (HP:0003220)2.92197120
32Vascular calcification (HP:0004934)2.91938669
33Colon cancer (HP:0003003)2.91611108
34Metaphyseal dysplasia (HP:0100255)2.90305001
35Autoimmune thrombocytopenia (HP:0001973)2.87100387
36Hyperglycemia (HP:0003074)2.84821234
37Neoplasm of the adrenal cortex (HP:0100641)2.80339555
38Abnormality of the vertebral endplates (HP:0005106)2.78173962
39Abnormality of the ileum (HP:0001549)2.77926102
40Mild short stature (HP:0003502)2.76006148
41Duplicated collecting system (HP:0000081)2.75265899
42Oligodactyly (hands) (HP:0001180)2.72817771
43Enlarged epiphyses (HP:0010580)2.72759833
44Stomach cancer (HP:0012126)2.72368137
45Micronodular cirrhosis (HP:0001413)2.67530780
46Ketosis (HP:0001946)2.66489442
47Abnormality of the renal cortex (HP:0011035)2.65647550
48Abnormality of polysaccharide metabolism (HP:0011012)2.65595792
49Abnormality of glycosaminoglycan metabolism (HP:0004371)2.65595792
50Abnormality of mucopolysaccharide metabolism (HP:0011020)2.65595792
51Depressed nasal tip (HP:0000437)2.64993890
52Esophageal atresia (HP:0002032)2.64021247
53Posterior subcapsular cataract (HP:0007787)2.63133116
54Urinary glycosaminoglycan excretion (HP:0003541)2.62203503
55Mucopolysacchariduria (HP:0008155)2.62203503
56Fibular aplasia (HP:0002990)2.60792139
57Absent radius (HP:0003974)2.59086536
58Missing ribs (HP:0000921)2.59075892
59Abnormality of the distal phalanges of the toes (HP:0010182)2.55225166
60Absent thumb (HP:0009777)2.53463031
61Decreased circulating renin level (HP:0003351)2.52156362
62Tubular atrophy (HP:0000092)2.50771359
63Abnormality of the fingertips (HP:0001211)2.49118150
64Cardiovascular calcification (HP:0011915)2.49027801
65Mesomelia (HP:0003027)2.48991073
66Severe visual impairment (HP:0001141)2.47926105
67Weak cry (HP:0001612)2.46985258
68Dysostosis multiplex (HP:0000943)2.46760099
69Absent forearm bone (HP:0003953)2.43904824
70Aplasia involving forearm bones (HP:0009822)2.43904824
71Retrobulbar optic neuritis (HP:0100654)2.42797503
72Optic neuritis (HP:0100653)2.42797503
73Popliteal pterygium (HP:0009756)2.42706372
74Prostate neoplasm (HP:0100787)2.39669835
75Increased cerebral lipofuscin (HP:0011813)2.39558797
76Duodenal stenosis (HP:0100867)2.37956302
77Small intestinal stenosis (HP:0012848)2.37956302
78Hyperinsulinemic hypoglycemia (HP:0000825)2.37528256
79Aplasia/Hypoplasia of the sacrum (HP:0008517)2.37212990
80Encephalitis (HP:0002383)2.33867973
81Oligodactyly (HP:0012165)2.33698188
82Abnormality of the renal collecting system (HP:0004742)2.33152063
83Ureteral stenosis (HP:0000071)2.32832519
84Short 5th finger (HP:0009237)2.32746623
85Chronic mucocutaneous candidiasis (HP:0002728)2.31475889
86Recurrent cutaneous fungal infections (HP:0011370)2.31475889
87Stridor (HP:0010307)2.29774761
88Diaphragmatic weakness (HP:0009113)2.28658904
89Abnormality of urine glucose concentration (HP:0011016)2.26923212
90Glycosuria (HP:0003076)2.26923212
91Syringomyelia (HP:0003396)2.25536421
92Spinal cord lesions (HP:0100561)2.25536421
93Abnormality of the carotid arteries (HP:0005344)2.24805690
94Type II lissencephaly (HP:0007260)2.22013534
95Metaphyseal irregularity (HP:0003025)2.21930088
96Osteomalacia (HP:0002749)2.19987146
97Rickets (HP:0002748)2.17514692
98Aplasia/Hypoplasia of the 5th finger (HP:0006262)2.15588084
99Congenital stationary night blindness (HP:0007642)2.15548447
100Volvulus (HP:0002580)2.15460425
101Petechiae (HP:0000967)2.15298267
102Constricted visual fields (HP:0001133)2.15168579
103Abnormality of the pancreatic islet cells (HP:0006476)2.15148723
104Abnormality of endocrine pancreas physiology (HP:0012093)2.15148723
105Decreased electroretinogram (ERG) amplitude (HP:0000654)2.14944318
106Optic nerve coloboma (HP:0000588)2.13960998
107Ureteral obstruction (HP:0006000)2.13478555
108Abnormality of the duodenum (HP:0002246)2.12361876
109Submucous cleft hard palate (HP:0000176)2.11272765
110Facial diplegia (HP:0001349)2.09876504
111Triphalangeal thumb (HP:0001199)2.09472864
112Progressive visual loss (HP:0000529)2.08634206
113Increased CSF protein (HP:0002922)2.07281687
114Type 2 muscle fiber atrophy (HP:0003554)2.04545012
115Renal cortical cysts (HP:0000803)2.02090413
116Abnormality of renin-angiotensin system (HP:0000847)2.01983793
117Abnormality of pyrimidine metabolism (HP:0004353)2.01894892
118Hypophosphatemia (HP:0002148)2.01572716
119Abnormality of the labia minora (HP:0012880)2.01249711
120Bone marrow hypocellularity (HP:0005528)2.00172125
121Alveolar cell carcinoma (HP:0006519)1.99321694
122Irregular epiphyses (HP:0010582)1.98465926
123Cerebellar dysplasia (HP:0007033)1.98358412
124Attenuation of retinal blood vessels (HP:0007843)1.96578920
125Hypoglycemic seizures (HP:0002173)1.96203748
126Abnormal delayed hypersensitivity skin test (HP:0002963)1.95543293
127J-shaped sella turcica (HP:0002680)1.94773313
128Hepatoblastoma (HP:0002884)1.93849192
129Cheilitis (HP:0100825)1.91456282
130Polyuria (HP:0000103)1.90420884
131Myelodysplasia (HP:0002863)1.90022790
132Vacuolated lymphocytes (HP:0001922)1.89657269
133Macular degeneration (HP:0000608)1.89545439
134Selective tooth agenesis (HP:0001592)1.89422351
135Aplasia/Hypoplasia of the fibula (HP:0006492)1.88492483
136Duplication of thumb phalanx (HP:0009942)1.88438244
137Malnutrition (HP:0004395)1.87559591
138Aplasia/Hypoplasia of the fovea (HP:0008060)1.86977777
139Hypoplasia of the fovea (HP:0007750)1.86977777
140Orchitis (HP:0100796)1.86389460
141Urethral obstruction (HP:0000796)1.86183155
142Keratoconjunctivitis sicca (HP:0001097)1.86033866
143Gastrointestinal atresia (HP:0002589)1.86032668
144Insulin-resistant diabetes mellitus (HP:0000831)1.85119297
145Tinnitus (HP:0000360)1.84892337
146Neuroendocrine neoplasm (HP:0100634)1.84820546
147Biliary tract neoplasm (HP:0100574)1.82859896
148Progressive microcephaly (HP:0000253)1.81745363
149Thyroid-stimulating hormone excess (HP:0002925)1.81382642
150Absent frontal sinuses (HP:0002688)1.80421508
151Pheochromocytoma (HP:0002666)1.80259026
152Hyperventilation (HP:0002883)1.80038466
153Hamartoma of the eye (HP:0010568)1.79877568
154Increased neuronal autofluorescent lipopigment (HP:0002074)1.79836565
155Abnormal hair laboratory examination (HP:0003328)1.79048504
156Neoplasm of the tracheobronchial system (HP:0100552)1.77563125
157Recurrent abscess formation (HP:0002722)1.75843104
158Goiter (HP:0000853)1.75734184
159Irregular vertebral endplates (HP:0003301)1.74971209
160Hyperparathyroidism (HP:0000843)1.73868358
161Short tibia (HP:0005736)1.73748933
162Aplasia/Hypoplasia of the tibia (HP:0005772)1.72771212
163Progressive sensorineural hearing impairment (HP:0000408)1.71596614
164Keratoconjunctivitis (HP:0001096)1.71477259
165Increased circulating renin level (HP:0000848)1.71361956
166Hypoalbuminemia (HP:0003073)1.71216057
167Abnormal albumin level (HP:0012116)1.71216057
168Genu varum (HP:0002970)1.70884933
169Fibular hypoplasia (HP:0003038)1.70678590
170Increased IgM level (HP:0003496)1.69644815
171Anal stenosis (HP:0002025)1.69138639
172Potter facies (HP:0002009)1.68964463
173Facial shape deformation (HP:0011334)1.68964463
174Hypomagnesemia (HP:0002917)1.68644781
175Type I transferrin isoform profile (HP:0003642)1.67333634
176Aplasia cutis congenita (HP:0001057)1.67116018
177Hypokinesia (HP:0002375)1.66856558
178Abnormality of the vitreous humor (HP:0004327)1.65484198
179Confusion (HP:0001289)1.65298468
180Abnormal urine output (HP:0012590)1.64479407
181Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.63919929
182Abnormality of alanine metabolism (HP:0010916)1.63919929
183Hyperalaninemia (HP:0003348)1.63919929
184Broad ribs (HP:0000885)1.63163282
185Symptomatic seizures (HP:0011145)1.61892693
186Cranial hyperostosis (HP:0004437)1.61371278
187Prolonged bleeding time (HP:0003010)1.60919311
188Abnormality of the proximal phalanges of the hand (HP:0009834)1.60168823
189Nonprogressive disorder (HP:0003680)1.57967609
190Septo-optic dysplasia (HP:0100842)1.56334722
191Abnormality of the nasal septum (HP:0000419)1.55969300
192Muscle fiber atrophy (HP:0100295)1.55620992
193Tracheoesophageal fistula (HP:0002575)1.55517411
194Abnormal platelet volume (HP:0011876)1.54883152
195Abnormality of abdominal situs (HP:0011620)1.54280481

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PLK48.52303915
2STK246.32219583
3EPHA24.19900359
4WNK44.17302141
5STK393.97573985
6ACVR1B3.48435303
7CASK3.24045312
8RPS6KB23.13770612
9CCNB12.91162649
10MAP3K22.87949053
11PINK12.87751165
12EEF2K2.78030543
13MAP3K142.72660835
14MAP2K32.25703029
15FRK2.25611674
16SIK32.13763469
17TRIM281.99454521
18ZAK1.86510468
19BCR1.63611481
20PIM11.51119659
21CHUK1.47833794
22IRAK31.47193090
23PIK3CA1.45743697
24EIF2AK21.31750786
25ILK1.31116268
26BMPR1B1.30564052
27JAK31.29398675
28TYK21.29063446
29MST41.27573410
30ICK1.25702382
31AKT31.22953945
32YES11.21742688
33FLT31.19274739
34PRKCQ1.18839597
35CAMKK21.18362437
36INSRR1.16753614
37TAOK31.12669578
38IKBKE1.12513673
39STK101.11554136
40MAP3K41.11038533
41MARK31.10819437
42RIPK11.10758049
43MELK1.10601593
44TAOK21.10467638
45DAPK21.08404008
46SGK21.07244333
47TBK11.07141421
48IKBKB1.06250021
49PASK1.05167219
50BLK1.05005485
51BRSK21.04197234
52TRPM71.03391348
53LATS10.99446451
54CDK70.99217150
55MUSK0.97690854
56TNK20.95907195
57GRK10.95828821
58KIT0.93648917
59CAMK40.92586607
60PLK30.91752901
61MAP3K120.90927010
62CAMK1G0.90704893
63TXK0.90607003
64ERN10.90093836
65WEE10.87542641
66IRAK40.87130198
67MAP3K30.85532108
68STK40.84923279
69RIPK40.83462662
70PRKCI0.82874559
71MAPK130.82808193
72ERBB40.81651696
73EIF2AK30.80189975
74WNK10.75552731
75PRKG20.75506787
76PDK10.73592074
77TSSK60.73440043
78MAP2K60.73319249
79MAPK70.72137646
80PIM20.71598231
81SGK30.71155925
82STK160.70471367
83CSF1R0.69963280
84PRKD30.69287369
85MAP4K20.69125469
86AURKB0.68003711
87FGFR20.67864347
88CAMK1D0.67833060
89MAPKAPK50.65194500
90MKNK10.64583772
91ERBB30.64581035
92MKNK20.63301025
93MAPK120.62931757
94PDPK10.62355204
95CDK120.60942960
96CAMK10.59755341
97PRKAA20.58607713
98RPS6KA60.58587832
99TTK0.57391213
100PNCK0.56546342
101PHKG10.56250442
102PHKG20.56250442
103MAP2K70.55315557
104SGK4940.52117251
105SGK2230.52117251
106CHEK20.50914750
107DYRK30.50348773
108MAPKAPK30.49955320
109PTK20.49699436
110STK38L0.49637005
111CLK10.49605745
112CDC70.49283770
113MAP3K130.48553547
114NLK0.47713343
115LMTK20.46550084
116PKN20.45935983
117IRAK10.45293282
118BMPR20.44750666
119NUAK10.44614956
120CDK30.44570586
121PLK10.44004344
122MAP2K40.42292263
123HCK0.42258858
124BTK0.41301899
125ATR0.41054232
126BUB10.40789395
127MST1R0.40592025
128TLK10.40489730
129RPS6KB10.40275548
130RPS6KC10.40116888
131RPS6KL10.40116888
132RET0.40011550
133NEK10.39846631
134OXSR10.38147027
135MAP2K20.36927607
136ADRBK10.35964968
137AKT20.35563218
138CAMKK10.34961624
139AKT10.34292951
140PRKAA10.34136733
141SRPK10.33809574
142FER0.33660641
143NEK90.33049611
144PTK2B0.32424985
145BRD40.31473124
146TNIK0.31316421
147ABL10.30983309
148TEC0.30915176
149BRAF0.30382309
150MAP4K10.30355126
151CHEK10.30071506
152SYK0.29630317
153ADRBK20.28406834
154PRKD20.27821853
155BRSK10.27395981
156TAOK10.27108812
157CDK20.25092092
158MAPKAPK20.24101234
159CSK0.23914252
160EPHB20.23662566
161MAPK110.23600683
162PRPF4B0.23150762
163SGK10.22032925
164PRKCD0.21891945
165NTRK30.21765224

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049505.06005362
2Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.66934837
3Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.66767716
4Nitrogen metabolism_Homo sapiens_hsa009102.62944005
5Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.51587760
6Lysine degradation_Homo sapiens_hsa003102.32839521
7Fanconi anemia pathway_Homo sapiens_hsa034602.30744251
8DNA replication_Homo sapiens_hsa030302.22919519
9Mismatch repair_Homo sapiens_hsa034302.20798776
10N-Glycan biosynthesis_Homo sapiens_hsa005102.19720159
11RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.19400014
12One carbon pool by folate_Homo sapiens_hsa006702.12711841
13Arginine biosynthesis_Homo sapiens_hsa002202.10253155
14Drug metabolism - other enzymes_Homo sapiens_hsa009832.08716038
15Sulfur metabolism_Homo sapiens_hsa009202.01835556
16Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.00642563
17Toll-like receptor signaling pathway_Homo sapiens_hsa046201.98660502
18p53 signaling pathway_Homo sapiens_hsa041151.98230020
19NF-kappa B signaling pathway_Homo sapiens_hsa040641.95414678
20Base excision repair_Homo sapiens_hsa034101.88561892
21Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.82930825
22Linoleic acid metabolism_Homo sapiens_hsa005911.82828733
23NOD-like receptor signaling pathway_Homo sapiens_hsa046211.79734519
24Butanoate metabolism_Homo sapiens_hsa006501.78240302
25Allograft rejection_Homo sapiens_hsa053301.77722851
26Intestinal immune network for IgA production_Homo sapiens_hsa046721.74680517
27Fatty acid elongation_Homo sapiens_hsa000621.71977081
28Measles_Homo sapiens_hsa051621.69257444
29Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.66247143
30Homologous recombination_Homo sapiens_hsa034401.63918462
31Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.59698229
32Phototransduction_Homo sapiens_hsa047441.59594244
33mTOR signaling pathway_Homo sapiens_hsa041501.57517797
34Herpes simplex infection_Homo sapiens_hsa051681.56928233
35alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.56868448
36Leishmaniasis_Homo sapiens_hsa051401.54584548
37Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.46516714
38Influenza A_Homo sapiens_hsa051641.46500976
39Graft-versus-host disease_Homo sapiens_hsa053321.46400800
40Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.45597778
41Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.45538149
42Proteasome_Homo sapiens_hsa030501.45086935
43Collecting duct acid secretion_Homo sapiens_hsa049661.43367087
44Cell cycle_Homo sapiens_hsa041101.41769178
45Pentose and glucuronate interconversions_Homo sapiens_hsa000401.40427107
46Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.40140680
47ABC transporters_Homo sapiens_hsa020101.39654859
48Insulin secretion_Homo sapiens_hsa049111.38227828
49* Hippo signaling pathway_Homo sapiens_hsa043901.36831090
50Type I diabetes mellitus_Homo sapiens_hsa049401.36351968
51Sphingolipid metabolism_Homo sapiens_hsa006001.34742559
52Fat digestion and absorption_Homo sapiens_hsa049751.34705705
53Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.34695710
54Legionellosis_Homo sapiens_hsa051341.32225484
55Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.30501074
56Basal cell carcinoma_Homo sapiens_hsa052171.30395907
57Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.28744822
58beta-Alanine metabolism_Homo sapiens_hsa004101.28482722
59Nucleotide excision repair_Homo sapiens_hsa034201.28104556
60Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.27071660
61Steroid hormone biosynthesis_Homo sapiens_hsa001401.26645560
62Ether lipid metabolism_Homo sapiens_hsa005651.25591042
63Pertussis_Homo sapiens_hsa051331.22400476
64Glycosaminoglycan degradation_Homo sapiens_hsa005311.21716999
65Hepatitis C_Homo sapiens_hsa051601.21173523
66Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.19736354
67Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.18995131
68Antigen processing and presentation_Homo sapiens_hsa046121.14639537
69Pyrimidine metabolism_Homo sapiens_hsa002401.13109152
70Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.11575882
71Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.09786313
72Non-homologous end-joining_Homo sapiens_hsa034501.09419558
73Starch and sucrose metabolism_Homo sapiens_hsa005001.09118896
74Apoptosis_Homo sapiens_hsa042101.07145285
75Transcriptional misregulation in cancer_Homo sapiens_hsa052021.07100895
76Ovarian steroidogenesis_Homo sapiens_hsa049131.06771230
77MicroRNAs in cancer_Homo sapiens_hsa052061.06137117
78Autoimmune thyroid disease_Homo sapiens_hsa053201.04488475
79Sulfur relay system_Homo sapiens_hsa041221.03958671
80Glycerolipid metabolism_Homo sapiens_hsa005611.03174888
81Shigellosis_Homo sapiens_hsa051311.01731789
82Tryptophan metabolism_Homo sapiens_hsa003801.01126029
83Hematopoietic cell lineage_Homo sapiens_hsa046401.01075222
84Renin-angiotensin system_Homo sapiens_hsa046140.99342252
85AMPK signaling pathway_Homo sapiens_hsa041520.98994629
86Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.98885397
87Vitamin B6 metabolism_Homo sapiens_hsa007500.98474425
88Lysosome_Homo sapiens_hsa041420.97693229
89Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.97486027
90Adherens junction_Homo sapiens_hsa045200.96517724
91Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.96400941
92Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.96399545
93RNA transport_Homo sapiens_hsa030130.91511837
94Primary immunodeficiency_Homo sapiens_hsa053400.91480208
95Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90516324
96Toxoplasmosis_Homo sapiens_hsa051450.89742376
97Vitamin digestion and absorption_Homo sapiens_hsa049770.89647038
98Salmonella infection_Homo sapiens_hsa051320.88794047
99Taste transduction_Homo sapiens_hsa047420.88676481
100TNF signaling pathway_Homo sapiens_hsa046680.87792785
101Endometrial cancer_Homo sapiens_hsa052130.87657314
102Bile secretion_Homo sapiens_hsa049760.87220152
103Other glycan degradation_Homo sapiens_hsa005110.86184433
104Systemic lupus erythematosus_Homo sapiens_hsa053220.84722672
105Epstein-Barr virus infection_Homo sapiens_hsa051690.84008068
106Pancreatic secretion_Homo sapiens_hsa049720.83156189
107Regulation of autophagy_Homo sapiens_hsa041400.81287748
108Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.81105503
109Type II diabetes mellitus_Homo sapiens_hsa049300.80607796
110Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.79415449
111Arginine and proline metabolism_Homo sapiens_hsa003300.78200312
112Hepatitis B_Homo sapiens_hsa051610.78099421
113Jak-STAT signaling pathway_Homo sapiens_hsa046300.77789250
114Glycerophospholipid metabolism_Homo sapiens_hsa005640.76440813
115Caffeine metabolism_Homo sapiens_hsa002320.76105441
116Small cell lung cancer_Homo sapiens_hsa052220.76066826
117Tuberculosis_Homo sapiens_hsa051520.74744512
118Carbohydrate digestion and absorption_Homo sapiens_hsa049730.74459658
119Thyroid hormone synthesis_Homo sapiens_hsa049180.74208988
120Arachidonic acid metabolism_Homo sapiens_hsa005900.73129776
121Chemokine signaling pathway_Homo sapiens_hsa040620.72915381
122Retinol metabolism_Homo sapiens_hsa008300.70701422
123Regulation of actin cytoskeleton_Homo sapiens_hsa048100.70320345
124Purine metabolism_Homo sapiens_hsa002300.69830056
125Nicotine addiction_Homo sapiens_hsa050330.68515977
126Chemical carcinogenesis_Homo sapiens_hsa052040.68433249
127Spliceosome_Homo sapiens_hsa030400.68387012
128Phosphatidylinositol signaling system_Homo sapiens_hsa040700.67614239
129RNA degradation_Homo sapiens_hsa030180.67534809
130Mineral absorption_Homo sapiens_hsa049780.66967882
131Peroxisome_Homo sapiens_hsa041460.66264042
132Viral myocarditis_Homo sapiens_hsa054160.65078418
133Tight junction_Homo sapiens_hsa045300.64507829
134Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.64227315
135Viral carcinogenesis_Homo sapiens_hsa052030.63425450
136Pathways in cancer_Homo sapiens_hsa052000.62830663
137Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.62561796
138Chronic myeloid leukemia_Homo sapiens_hsa052200.60943339
139Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.60758800
140Dorso-ventral axis formation_Homo sapiens_hsa043200.60370024
141HTLV-I infection_Homo sapiens_hsa051660.60056623
142Phagosome_Homo sapiens_hsa041450.59092627
143Cyanoamino acid metabolism_Homo sapiens_hsa004600.58301407
144Insulin resistance_Homo sapiens_hsa049310.57582427
145Histidine metabolism_Homo sapiens_hsa003400.56816728
146Prostate cancer_Homo sapiens_hsa052150.55528697
147Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.55316073
148Salivary secretion_Homo sapiens_hsa049700.55142624
149Hedgehog signaling pathway_Homo sapiens_hsa043400.54853979
150Prolactin signaling pathway_Homo sapiens_hsa049170.53021013
151Fatty acid metabolism_Homo sapiens_hsa012120.51905858
152Leukocyte transendothelial migration_Homo sapiens_hsa046700.50498648
153Primary bile acid biosynthesis_Homo sapiens_hsa001200.50082920
154Osteoclast differentiation_Homo sapiens_hsa043800.49462474
155SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48530969
156Non-small cell lung cancer_Homo sapiens_hsa052230.48390675
157Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.48086861
158Asthma_Homo sapiens_hsa053100.47440851
159Fructose and mannose metabolism_Homo sapiens_hsa000510.47334154
160Long-term depression_Homo sapiens_hsa047300.46969706
161RNA polymerase_Homo sapiens_hsa030200.46845954
162FoxO signaling pathway_Homo sapiens_hsa040680.46813121
163Selenocompound metabolism_Homo sapiens_hsa004500.46547141
164Notch signaling pathway_Homo sapiens_hsa043300.46272996
165Inositol phosphate metabolism_Homo sapiens_hsa005620.46013270
166Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.45916289
167Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.45417034
168Proteoglycans in cancer_Homo sapiens_hsa052050.42895852
169Acute myeloid leukemia_Homo sapiens_hsa052210.42388080
170Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42098656
171mRNA surveillance pathway_Homo sapiens_hsa030150.40020981
172Insulin signaling pathway_Homo sapiens_hsa049100.39468870
173Metabolic pathways_Homo sapiens_hsa011000.39198010
174Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.36017176
175Serotonergic synapse_Homo sapiens_hsa047260.34852758
176PPAR signaling pathway_Homo sapiens_hsa033200.31248310
177Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.28848888
178Protein digestion and absorption_Homo sapiens_hsa049740.26706605
179Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.25238814

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