BMP8A

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. This protein may play a role in development of the reproductive system. 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
1keratan sulfate catabolic process (GO:0042340)9.31854307
2chondrocyte development (GO:0002063)8.79694083
3notochord development (GO:0030903)8.39144576
4thyroid hormone generation (GO:0006590)8.33142466
5negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)7.52623051
6thyroid hormone metabolic process (GO:0042403)6.95023773
7positive regulation of extracellular matrix organization (GO:1903055)6.56065322
8collagen fibril organization (GO:0030199)6.50754795
9positive regulation of amino acid transport (GO:0051957)6.39473524
10limb bud formation (GO:0060174)6.39313401
11nucleotide-sugar biosynthetic process (GO:0009226)6.13509570
12embryonic skeletal joint morphogenesis (GO:0060272)5.89072899
13sphingomyelin metabolic process (GO:0006684)5.86899672
14endochondral ossification (GO:0001958)5.00731180
15replacement ossification (GO:0036075)5.00731180
16* cartilage development (GO:0051216)4.97721697
17proteoglycan metabolic process (GO:0006029)4.82471083
18UDP-N-acetylglucosamine metabolic process (GO:0006047)4.74560448
19endothelial cell morphogenesis (GO:0001886)4.72152675
20protein retention in ER lumen (GO:0006621)4.66007555
21collagen catabolic process (GO:0030574)4.58861617
22multicellular organismal catabolic process (GO:0044243)4.53090146
23skeletal system development (GO:0001501)4.45073125
24hypotonic response (GO:0006971)4.38244722
25maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.35046656
26collagen metabolic process (GO:0032963)4.33545979
27keratan sulfate biosynthetic process (GO:0018146)4.27074996
28negative regulation of synaptic transmission, glutamatergic (GO:0051967)4.23095073
29multicellular organismal macromolecule metabolic process (GO:0044259)4.21818457
30chondroitin sulfate biosynthetic process (GO:0030206)4.19280167
31regulation of extracellular matrix disassembly (GO:0010715)4.13333685
32multicellular organismal metabolic process (GO:0044236)4.07236152
33endodermal cell differentiation (GO:0035987)4.01833106
34T cell migration (GO:0072678)3.96679695
35chondrocyte differentiation (GO:0002062)3.93842573
36regulation of extracellular matrix organization (GO:1903053)3.90357618
37positive regulation of chondrocyte differentiation (GO:0032332)3.89207724
38regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.87292455
39myelin assembly (GO:0032288)3.84774677
40lipopolysaccharide biosynthetic process (GO:0009103)3.82824507
41cellular ketone body metabolic process (GO:0046950)3.81758427
42keratan sulfate metabolic process (GO:0042339)3.78491275
43proline transport (GO:0015824)3.70846120
44DNA deamination (GO:0045006)3.70228096
45extracellular matrix disassembly (GO:0022617)3.67620097
46positive regulation of synaptic transmission, GABAergic (GO:0032230)3.66897400
47metallo-sulfur cluster assembly (GO:0031163)3.65721651
48iron-sulfur cluster assembly (GO:0016226)3.65721651
49negative regulation of gluconeogenesis (GO:0045721)3.65557993
50cellular glucuronidation (GO:0052695)3.62075273
51peptidyl-proline hydroxylation (GO:0019511)3.60430369
52skin morphogenesis (GO:0043589)3.56781752
53response to gravity (GO:0009629)3.53824442
54nucleotide-sugar metabolic process (GO:0009225)3.52631154
55iron ion import (GO:0097286)3.49010960
56establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.45320497
57mitochondrion transport along microtubule (GO:0047497)3.45320497
58aggressive behavior (GO:0002118)3.43709307
59regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)3.43255557
60lipopolysaccharide metabolic process (GO:0008653)3.34570020
61negative regulation of smooth muscle cell differentiation (GO:0051151)3.33529551
62positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)3.32405198
63detection of light stimulus involved in sensory perception (GO:0050962)3.31015561
64detection of light stimulus involved in visual perception (GO:0050908)3.31015561
65regulation of integrin-mediated signaling pathway (GO:2001044)3.30901093
66response to pheromone (GO:0019236)3.30577421
67positive regulation of cartilage development (GO:0061036)3.29844596
68uronic acid metabolic process (GO:0006063)3.27090865
69glucuronate metabolic process (GO:0019585)3.27090865
70establishment of mitochondrion localization (GO:0051654)3.26937052
71regulation of autophagic vacuole assembly (GO:2000785)3.25447986
72retinal cone cell development (GO:0046549)3.24183320
73ketone body metabolic process (GO:1902224)3.23556808
74sulfate transmembrane transport (GO:1902358)3.21757859
75glycoprotein metabolic process (GO:0009100)3.21293709
76NAD biosynthetic process (GO:0009435)3.20774132
77potassium ion export (GO:0071435)3.20638284
78response to follicle-stimulating hormone (GO:0032354)3.15619583
79response to acidic pH (GO:0010447)3.15267126
80positive regulation of organic acid transport (GO:0032892)3.14358808
81mannosylation (GO:0097502)3.13280051
82regulation of amino acid transport (GO:0051955)3.10897817
83vitamin A metabolic process (GO:0006776)3.10460094
84drinking behavior (GO:0042756)3.10017732
85cellular response to BMP stimulus (GO:0071773)3.06900889
86response to BMP (GO:0071772)3.06900889
87positive regulation of amine transport (GO:0051954)3.05737974
88single strand break repair (GO:0000012)3.04031257
89connective tissue development (GO:0061448)3.02081271
90regulation of chondrocyte differentiation (GO:0032330)3.01142068
91intestinal epithelial cell development (GO:0060576)3.00839656
92cytochrome complex assembly (GO:0017004)3.00216815
93chondrocyte proliferation (GO:0035988)2.98931618
94glycosaminoglycan catabolic process (GO:0006027)2.98265052
95alanine transport (GO:0032328)2.97695882
96regulation of cilium movement (GO:0003352)2.93186619
97biomineral tissue development (GO:0031214)2.92074586
98regulation of transforming growth factor beta2 production (GO:0032909)2.89251135
99RNA destabilization (GO:0050779)2.89207508
100regulation of plasminogen activation (GO:0010755)2.88399240
101sperm motility (GO:0030317)2.88314787
102regulation of cartilage development (GO:0061035)2.87155386
103positive regulation of calcium ion import (GO:0090280)2.84582947
104positive regulation of protein kinase C signaling (GO:0090037)2.83821701
105purine nucleotide salvage (GO:0032261)2.83656263
106proline biosynthetic process (GO:0006561)2.83277666
107extracellular structure organization (GO:0043062)2.83219976
108extracellular matrix organization (GO:0030198)2.83190753
109glycosaminoglycan biosynthetic process (GO:0006024)2.82538738
110negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.80378538
111AMP metabolic process (GO:0046033)2.80340656
112negative regulation of cartilage development (GO:0061037)2.80021518
113pyrimidine nucleobase catabolic process (GO:0006208)2.79694053
114regulation of bone mineralization (GO:0030500)2.78049696
115thyroid gland development (GO:0030878)2.77376291
116ATP hydrolysis coupled proton transport (GO:0015991)2.77048166
117energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.77048166
118diterpenoid biosynthetic process (GO:0016102)2.76482984
119aminoglycan biosynthetic process (GO:0006023)2.76264197
120* ossification (GO:0001503)2.75965921
121aminoglycan catabolic process (GO:0006026)2.75617472
122urinary tract smooth muscle contraction (GO:0014848)2.75185725
123long term synaptic depression (GO:0060292)2.75086656
124sulfate transport (GO:0008272)2.74742084
125tooth mineralization (GO:0034505)2.74378384
126acrosome reaction (GO:0007340)2.74147397
127detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.74081326
128synaptic transmission, cholinergic (GO:0007271)2.73398073
129eosinophil chemotaxis (GO:0048245)2.71565837
130negative regulation of NF-kappaB import into nucleus (GO:0042347)2.71312514
131regulation of odontogenesis of dentin-containing tooth (GO:0042487)2.70506538
132zinc ion homeostasis (GO:0055069)2.70329883
133neurotransmitter catabolic process (GO:0042135)2.70243428
134COPII vesicle coating (GO:0048208)2.70217214
135regulation of microtubule-based movement (GO:0060632)2.69940368
136positive regulation of TOR signaling (GO:0032008)2.69118042
137piRNA metabolic process (GO:0034587)2.69070743
138ionotropic glutamate receptor signaling pathway (GO:0035235)2.68419988
139regulation of transmission of nerve impulse (GO:0051969)2.66736042
140hyperosmotic salinity response (GO:0042538)2.66305022
141neurofilament cytoskeleton organization (GO:0060052)2.64976074
142protein hydroxylation (GO:0018126)2.64286981
143short-term memory (GO:0007614)2.64066535
144response to vitamin D (GO:0033280)2.64028424
145negative regulation of protein oligomerization (GO:0032460)2.63331148
146regulation of defense response to virus by host (GO:0050691)2.62736310
147positive regulation of protein autophosphorylation (GO:0031954)2.60758651
148positive regulation of mitochondrial fission (GO:0090141)2.59910589
149positive regulation of p38MAPK cascade (GO:1900745)2.59251651
150sphingolipid catabolic process (GO:0030149)2.58082377
151sulfur compound catabolic process (GO:0044273)2.58016487
152regulation of cilium assembly (GO:1902017)2.57787245
153negative regulation of chemokine production (GO:0032682)2.55854330
154regulation of metalloenzyme activity (GO:0048552)2.55387532
155negative regulation of cytokine secretion (GO:0050710)2.55167466
156oligosaccharide catabolic process (GO:0009313)2.54910298
157protein K11-linked deubiquitination (GO:0035871)2.54227733
158spermatid development (GO:0007286)2.51775624
159regulation of feeding behavior (GO:0060259)2.51602556
160regulation of biomineral tissue development (GO:0070167)2.51321197
161bone mineralization (GO:0030282)2.51196214
162protein complex biogenesis (GO:0070271)2.49195062
163cellular response to pH (GO:0071467)2.46907678
164regulation of vacuole organization (GO:0044088)2.46866363
165regulation of glutamate secretion (GO:0014048)2.46773984
166xenobiotic catabolic process (GO:0042178)2.46752712
167DNA methylation involved in gamete generation (GO:0043046)2.46050000
168fusion of sperm to egg plasma membrane (GO:0007342)2.43940189
169coenzyme catabolic process (GO:0009109)2.43138025
170behavioral response to nicotine (GO:0035095)2.41458023
171positive regulation of action potential (GO:0045760)2.41409841
172eosinophil migration (GO:0072677)2.40947109
173calcium ion import (GO:0070509)2.39645719
174regulation of B cell apoptotic process (GO:0002902)2.39099266
175mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.38752501
176positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.38752501
177mitochondrial respiratory chain complex assembly (GO:0033108)2.37114592
178respiratory chain complex IV assembly (GO:0008535)2.36782874
179synaptic transmission, glutamatergic (GO:0035249)2.36525911
180inositol phosphate catabolic process (GO:0071545)2.36246914
181pH reduction (GO:0045851)2.34410065
182peptidyl-histidine modification (GO:0018202)2.32896518
183protein polyglutamylation (GO:0018095)2.32467413
184intracellular pH reduction (GO:0051452)2.31593521
185positive regulation of digestive system process (GO:0060456)2.31293812
186positive regulation of Rab GTPase activity (GO:0032851)2.28707066
187regulation of Rab GTPase activity (GO:0032313)2.28707066
188negative regulation of B cell apoptotic process (GO:0002903)2.27593969
189N-acetylneuraminate metabolic process (GO:0006054)2.27303280
190platelet dense granule organization (GO:0060155)2.27002130
191neuronal action potential (GO:0019228)2.25978031
192neurotransmitter metabolic process (GO:0042133)2.25143028
193nicotinamide nucleotide biosynthetic process (GO:0019359)2.24713807
194pyridine nucleotide biosynthetic process (GO:0019363)2.24713807
195dicarboxylic acid catabolic process (GO:0043649)2.24501799
196regulation of transcription involved in cell fate commitment (GO:0060850)2.23770257
197cartilage development involved in endochondral bone morphogenesis (GO:0060351)11.3475316
198cell aggregation (GO:0098743)10.4128828
199cartilage condensation (GO:0001502)10.4128828

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human8.09832015
2TRIM28_21343339_ChIP-Seq_HEK293_Human7.89859014
3E2F7_22180533_ChIP-Seq_HELA_Human3.78588039
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.77652393
5ESR1_21235772_ChIP-Seq_MCF-7_Human3.42657686
6NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.34897268
7IRF8_22096565_ChIP-ChIP_GC-B_Human3.19680259
8GATA1_22025678_ChIP-Seq_K562_Human3.09394707
9HIF1A_21447827_ChIP-Seq_MCF-7_Human3.04137491
10NANOG_18700969_ChIP-ChIP_MESCs_Mouse3.03285806
11MYC_18555785_ChIP-Seq_MESCs_Mouse2.80938319
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.79864885
13CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.72289684
14AR_21572438_ChIP-Seq_LNCaP_Human2.57677136
15PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.57239177
16ZNF274_21170338_ChIP-Seq_K562_Hela2.51806361
17POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.47438259
18EZH2_22144423_ChIP-Seq_EOC_Human2.47048684
19SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.34805385
20SALL1_21062744_ChIP-ChIP_HESCs_Human2.27009059
21ELF1_20517297_ChIP-Seq_JURKAT_Human2.18343765
22TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.09802350
23BP1_19119308_ChIP-ChIP_Hs578T_Human2.07817764
24CDX2_20551321_ChIP-Seq_CACO-2_Human2.07078533
25ESR2_21235772_ChIP-Seq_MCF-7_Human2.05003358
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.04760986
27* LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.02867500
28E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.02226371
29ELK1_22589737_ChIP-Seq_MCF10A_Human1.99300037
30TCF3_18692474_ChIP-Seq_MEFs_Mouse1.97932143
31SMAD_19615063_ChIP-ChIP_OVARY_Human1.95893780
32VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.95055450
33TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.94568495
34SALL4_18804426_ChIP-ChIP_XEN_Mouse1.88464433
35GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.85031944
36FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.84209226
37NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.83350279
38MYC_19079543_ChIP-ChIP_MESCs_Mouse1.81391797
39ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.79916915
40BCL6_27268052_Chip-Seq_Bcells_Human1.77537132
41* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.76333621
42IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.75670152
43REST_18959480_ChIP-ChIP_MESCs_Mouse1.74661107
44SOX2_20726797_ChIP-Seq_SW620_Human1.74067729
45ERA_21632823_ChIP-Seq_H3396_Human1.71970106
46BCOR_27268052_Chip-Seq_Bcells_Human1.71106586
47JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.69951777
48* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.69430058
49REST_21632747_ChIP-Seq_MESCs_Mouse1.66437427
50CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.63746851
51CJUN_26792858_Chip-Seq_BT549_Human1.63740225
52MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.62746458
53SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.61586576
54MYC_19829295_ChIP-Seq_ESCs_Human1.59090906
55EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.58937794
56JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.57219583
57FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.55234387
58SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.53193548
59SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.52747927
60SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.52747927
61STAT3_1855785_ChIP-Seq_MESCs_Mouse1.52618639
62RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.51248392
63YY1_22570637_ChIP-Seq_MALME-3M_Human1.50501849
64HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.50341928
65NANOG_18555785_ChIP-Seq_MESCs_Mouse1.50143251
66AR_21909140_ChIP-Seq_LNCAP_Human1.49967835
67CTBP2_25329375_ChIP-Seq_LNCAP_Human1.49462222
68EGR1_19374776_ChIP-ChIP_THP-1_Human1.48632880
69E2F1_20622854_ChIP-Seq_HELA_Human1.47749697
70VDR_22108803_ChIP-Seq_LS180_Human1.47597142
71NANOG_18692474_ChIP-Seq_MEFs_Mouse1.47495935
72EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.47284392
73GATA3_24758297_ChIP-Seq_MCF-7_Human1.45598034
74RAC3_21632823_ChIP-Seq_H3396_Human1.42703962
75* CTCF_20526341_ChIP-Seq_ESCs_Human1.42060338
76* KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.41099626
77JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.41061407
78SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.39629367
79SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.38952702
80* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.38425061
81HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.38335352
82KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.38048351
83KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.38048351
84KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.38048351
85P68_20966046_ChIP-Seq_HELA_Human1.37085310
86SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.36174566
87DROSHA_22980978_ChIP-Seq_HELA_Human1.36036792
88* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.35282960
89TP53_22127205_ChIP-Seq_IMR90_Human1.34617106
90IRF8_21731497_ChIP-ChIP_J774_Mouse1.32785282
91CIITA_25753668_ChIP-Seq_RAJI_Human1.32043307
92CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.31424991
93* MAF_26560356_Chip-Seq_TH2_Human1.30981708
94MYC_19030024_ChIP-ChIP_MESCs_Mouse1.28678475
95HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.28312850
96EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.27537572
97ELF5_23300383_ChIP-Seq_T47D_Human1.25303191
98IKZF1_21737484_ChIP-ChIP_HCT116_Human1.24169961
99EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.23704752
100SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.22841322
101* VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.22178023
102FOXO3_23340844_ChIP-Seq_DLD1_Human1.21793186
103P63_26484246_Chip-Seq_KERATINOCYTES_Human1.20359114
104TAF2_19829295_ChIP-Seq_ESCs_Human1.20220452
105* ATF3_27146783_Chip-Seq_COLON_Human1.19908815
106PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.19834114
107CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.19547451
108* LXR_22292898_ChIP-Seq_THP-1_Human1.17784597
109P300_27268052_Chip-Seq_Bcells_Human1.17360782
110TCF3_18692474_ChIP-Seq_MESCs_Mouse1.17284573
111PHF8_20622854_ChIP-Seq_HELA_Human1.17118428
112STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.16546045
113PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.16076521
114* PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.15250242
115ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.13344342
116ETS1_20019798_ChIP-Seq_JURKAT_Human1.12916464
117VDR_23849224_ChIP-Seq_CD4+_Human1.12759583
118KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.11288493
119OCT4_18692474_ChIP-Seq_MEFs_Mouse1.10168934
120CBP_20019798_ChIP-Seq_JUKART_Human1.09836031
121IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.09836031
122GATA4_25053715_ChIP-Seq_YYC3_Human1.09644554
123* FOXH1_21741376_ChIP-Seq_ESCs_Human1.08882661
124GATA3_27048872_Chip-Seq_THYMUS_Human1.07805694
125TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07259961
126* OCT4_20526341_ChIP-Seq_ESCs_Human1.07228865
127CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.06887057
128RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.06867126
129IGF1R_20145208_ChIP-Seq_DFB_Human1.06832996
130NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.06358284
131* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.06026265
132EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.05989762
133CTBP1_25329375_ChIP-Seq_LNCAP_Human1.05561620
134NANOG_20526341_ChIP-Seq_ESCs_Human1.05436778
135CSB_26484114_Chip-Seq_FIBROBLAST_Human1.05284621
136CBX2_27304074_Chip-Seq_ESCs_Mouse1.05252008
137* SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.05007720
138WDR5_24793694_ChIP-Seq_LNCAP_Human1.04567015
139IRF1_19129219_ChIP-ChIP_H3396_Human1.04306456
140ER_23166858_ChIP-Seq_MCF-7_Human1.03852821
141SUZ12_27294783_Chip-Seq_ESCs_Mouse1.03358112
142GATA3_21878914_ChIP-Seq_MCF-7_Human1.02127921
143POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01099509
144TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01099509
145STAT1_20625510_ChIP-Seq_HELA_Human1.00752288
146RXR_22108803_ChIP-Seq_LS180_Human1.00167310
147* FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.99733676
148* SA1_27219007_Chip-Seq_Bcells_Human0.99500756
149* KAP1_27257070_Chip-Seq_ESCs_Mouse0.99348841
150NANOG_18692474_ChIP-Seq_MESCs_Mouse0.99197911
151NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.97005732
152* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.96574049
153UTX_26944678_Chip-Seq_JUKART_Human0.96333544
154SMC4_20622854_ChIP-Seq_HELA_Human0.96201754
155CREB1_15753290_ChIP-ChIP_HEK293T_Human0.95952927
156BCAT_22108803_ChIP-Seq_LS180_Human0.95878730
157IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.95306340
158NCOR_22424771_ChIP-Seq_293T_Human0.95303189
159CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.94632538
160GBX2_23144817_ChIP-Seq_PC3_Human0.93700609
161KDM5A_27292631_Chip-Seq_BREAST_Human0.92884078
162KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.91981902
163TAF15_26573619_Chip-Seq_HEK293_Human0.91433569
164GATA3_26560356_Chip-Seq_TH2_Human0.90772114
165PCGF2_27294783_Chip-Seq_ESCs_Mouse0.90342010
166GABP_17652178_ChIP-ChIP_JURKAT_Human0.90160307
167ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.89520600
168GATA3_21867929_ChIP-Seq_CD8_Mouse0.89284072
169KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.89227486
170NOTCH1_21737748_ChIP-Seq_TLL_Human0.89165107
171EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.89158978
172NELFA_20434984_ChIP-Seq_ESCs_Mouse0.89141071
173PPAR_26484153_Chip-Seq_NCI-H1993_Human0.89003111
174ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.88998706
175* SA1_27219007_Chip-Seq_ERYTHROID_Human0.88950587
176SRF_21415370_ChIP-Seq_HL-1_Mouse0.88574890
177SOX2_18692474_ChIP-Seq_MEFs_Mouse0.88549705
178GABP_19822575_ChIP-Seq_HepG2_Human0.88218716
179NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.87435167
180YY1_21170310_ChIP-Seq_MESCs_Mouse0.87307837
181* OCT4_19829295_ChIP-Seq_ESCs_Human0.87015596
182CLOCK_20551151_ChIP-Seq_293T_Human0.86831616
183TP53_20018659_ChIP-ChIP_R1E_Mouse0.86630989
184HOXB7_26014856_ChIP-Seq_BT474_Human0.86526831
185SMC1_22415368_ChIP-Seq_MEFs_Mouse0.85237216
186TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.83730540
187WT1_19549856_ChIP-ChIP_CCG9911_Human0.83379499
188KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.83248524
189BRD4_25478319_ChIP-Seq_HGPS_Human0.81701686
190E2F1_18555785_ChIP-Seq_MESCs_Mouse0.81284127
191MYC_18358816_ChIP-ChIP_MESCs_Mouse0.80919487
192CTCF_21964334_Chip-Seq_Bcells_Human0.79887163
193ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.79437721
194PCGF2_27294783_Chip-Seq_NPCs_Mouse0.77852270
195PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.77398234
196STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.76371804
197NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.76365089
198PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.75816622

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004134_abnormal_chest_morphology5.38768161
2MP0002282_abnormal_trachea_morphology5.05409776
3MP0002933_joint_inflammation4.93578292
4MP0005503_abnormal_tendon_morphology4.04073343
5MP0000163_abnormal_cartilage_morphology3.55469095
6MP0001542_abnormal_bone_strength3.53190891
7MP0000681_abnormal_thyroid_gland3.45775442
8MP0002822_catalepsy3.31113825
9MP0009250_abnormal_appendicular_skeleto3.27207203
10MP0003646_muscle_fatigue2.98548529
11MP0002115_abnormal_skeleton_extremities2.94996742
12MP0005058_abnormal_lysosome_morphology2.85504152
13MP0002638_abnormal_pupillary_reflex2.78061979
14MP0009840_abnormal_foam_cell2.73837933
15MP0002896_abnormal_bone_mineralization2.60213859
16MP0002113_abnormal_skeleton_development2.59684497
17MP0005671_abnormal_response_to2.50240445
18MP0003283_abnormal_digestive_organ2.39616053
19MP0002089_abnormal_postnatal_growth/wei2.38473902
20MP0005645_abnormal_hypothalamus_physiol2.33682223
21MP0001533_abnormal_skeleton_physiology2.27954102
22MP0003705_abnormal_hypodermis_morpholog2.22155480
23MP0005410_abnormal_fertilization2.22043157
24MP0000762_abnormal_tongue_morphology2.21804424
25MP0003566_abnormal_cell_adhesion2.18148177
26MP0005390_skeleton_phenotype2.17541713
27MP0004043_abnormal_pH_regulation2.14905943
28MP0005508_abnormal_skeleton_morphology2.12491277
29MP0010386_abnormal_urinary_bladder2.09777812
30MP0003795_abnormal_bone_structure1.96961687
31MP0008438_abnormal_cutaneous_collagen1.96572363
32MP0002109_abnormal_limb_morphology1.94597338
33MP0001501_abnormal_sleep_pattern1.91204999
34MP0003123_paternal_imprinting1.89814831
35MP0005387_immune_system_phenotype1.83179240
36MP0001790_abnormal_immune_system1.83179240
37MP0009780_abnormal_chondrocyte_physiolo1.82221471
38MP0005023_abnormal_wound_healing1.76739833
39MP0001299_abnormal_eye_distance/1.74413469
40MP0009384_cardiac_valve_regurgitation1.72071104
41MP0003303_peritoneal_inflammation1.70472842
42MP0002877_abnormal_melanocyte_morpholog1.70156370
43MP0004742_abnormal_vestibular_system1.68905522
44MP0005367_renal/urinary_system_phenotyp1.68124222
45MP0000516_abnormal_urinary_system1.68124222
46MP0009046_muscle_twitch1.65598995
47MP0001968_abnormal_touch/_nociception1.62899989
48MP0005310_abnormal_salivary_gland1.62566815
49MP0004272_abnormal_basement_membrane1.56785703
50MP0002148_abnormal_hypersensitivity_rea1.53745534
51MP0003279_aneurysm1.53678135
52MP0002837_dystrophic_cardiac_calcinosis1.52644321
53MP0002653_abnormal_ependyma_morphology1.50230433
54MP0002277_abnormal_respiratory_mucosa1.48513373
55MP0005275_abnormal_skin_tensile1.47355063
56MP0010352_gastrointestinal_tract_polyps1.46416351
57MP0008877_abnormal_DNA_methylation1.45784823
58MP0002998_abnormal_bone_remodeling1.44463354
59MP0002249_abnormal_larynx_morphology1.44335279
60MP0002116_abnormal_craniofacial_bone1.43687385
61MP0006082_CNS_inflammation1.43260079
62MP0006054_spinal_hemorrhage1.42580275
63MP0009785_altered_susceptibility_to1.41060907
64MP0002254_reproductive_system_inflammat1.40538527
65MP0003806_abnormal_nucleotide_metabolis1.40534386
66MP0000049_abnormal_middle_ear1.40385778
67MP0008004_abnormal_stomach_pH1.39452087
68MP0002064_seizures1.39332981
69MP0001529_abnormal_vocalization1.37959086
70MP0002229_neurodegeneration1.36490368
71MP0001970_abnormal_pain_threshold1.35926840
72MP0003172_abnormal_lysosome_physiology1.34195649
73MP0003755_abnormal_palate_morphology1.33152750
74MP0005253_abnormal_eye_physiology1.32389419
75MP0000432_abnormal_head_morphology1.31858526
76MP0008995_early_reproductive_senescence1.31631350
77MP0004510_myositis1.31131793
78* MP0003698_abnormal_male_reproductive1.30236690
79MP0001800_abnormal_humoral_immune1.29777976
80MP0002272_abnormal_nervous_system1.29522056
81MP0001984_abnormal_olfaction1.28039094
82MP0005551_abnormal_eye_electrophysiolog1.27467720
83MP0003011_delayed_dark_adaptation1.27170663
84MP0009278_abnormal_bone_marrow1.25797579
85MP0000343_altered_response_to1.25507906
86MP0005000_abnormal_immune_tolerance1.24653886
87MP0003091_abnormal_cell_migration1.24384013
88MP0001270_distended_abdomen1.24373256
89MP0001905_abnormal_dopamine_level1.22602530
90MP0005025_abnormal_response_to1.22531086
91MP0006036_abnormal_mitochondrial_physio1.22489654
92MP0001835_abnormal_antigen_presentation1.21388491
93MP0001485_abnormal_pinna_reflex1.21071403
94MP0005623_abnormal_meninges_morphology1.20877091
95MP0002111_abnormal_tail_morphology1.20678409
96MP0005379_endocrine/exocrine_gland_phen1.18838471
97MP0002693_abnormal_pancreas_physiology1.16306409
98MP0003436_decreased_susceptibility_to1.16048681
99MP0002723_abnormal_immune_serum1.15955835
100MP0003119_abnormal_digestive_system1.15356127
101MP0009745_abnormal_behavioral_response1.15131716
102MP0002139_abnormal_hepatobiliary_system1.15073610
103MP0009697_abnormal_copulation1.14316715
104MP0006035_abnormal_mitochondrial_morpho1.12804501
105MP0004185_abnormal_adipocyte_glucose1.12771811
106MP0002572_abnormal_emotion/affect_behav1.12731345
107MP0004197_abnormal_fetal_growth/weight/1.12689619
108MP0001663_abnormal_digestive_system1.12672356
109MP0005381_digestive/alimentary_phenotyp1.11404757
110MP0002909_abnormal_adrenal_gland1.10275694
111MP0003880_abnormal_central_pattern1.09621926
112MP0001944_abnormal_pancreas_morphology1.07800221
113MP0002114_abnormal_axial_skeleton1.07032479
114MP0002108_abnormal_muscle_morphology1.06923601
115MP0002733_abnormal_thermal_nociception1.06696951
116MP0006292_abnormal_olfactory_placode1.05343040
117MP0002452_abnormal_antigen_presenting1.04784203
118MP0004142_abnormal_muscle_tone1.01667007
119MP0005164_abnormal_response_to1.00347909
120MP0000026_abnormal_inner_ear0.98904658
121MP0000537_abnormal_urethra_morphology0.98051643
122MP0002420_abnormal_adaptive_immunity0.97780744
123MP0003635_abnormal_synaptic_transmissio0.97746711
124MP0000604_amyloidosis0.96538787
125MP0008569_lethality_at_weaning0.95974662
126MP0003941_abnormal_skin_development0.95112275
127MP0002163_abnormal_gland_morphology0.94268715
128MP0001765_abnormal_ion_homeostasis0.93909507
129MP0003656_abnormal_erythrocyte_physiolo0.93896563
130MP0009053_abnormal_anal_canal0.93832701
131* MP0001929_abnormal_gametogenesis0.93666826
132MP0001819_abnormal_immune_cell0.93605633
133MP0002233_abnormal_nose_morphology0.93168305
134MP0009764_decreased_sensitivity_to0.92646140
135MP0000462_abnormal_digestive_system0.91002108
136MP0001986_abnormal_taste_sensitivity0.90754239
137MP0002736_abnormal_nociception_after0.90192527
138MP0002557_abnormal_social/conspecific_i0.88723973
139MP0009643_abnormal_urine_homeostasis0.87329559
140MP0001963_abnormal_hearing_physiology0.87250797
141MP0000538_abnormal_urinary_bladder0.84862643
142MP0003221_abnormal_cardiomyocyte_apopto0.84003382
143MP0000920_abnormal_myelination0.83157413
144MP0003937_abnormal_limbs/digits/tail_de0.83023178
145MP0003935_abnormal_craniofacial_develop0.82562471
146MP0000716_abnormal_immune_system0.81100815
147MP0005084_abnormal_gallbladder_morpholo0.80894345
148MP0003448_altered_tumor_morphology0.80174882
149MP0000751_myopathy0.78408840
150* MP0001845_abnormal_inflammatory_respons0.78019054
151MP0004264_abnormal_extraembryonic_tissu0.77600278
152MP0001286_abnormal_eye_development0.76690157
153MP0005248_abnormal_Harderian_gland0.76226581
154MP0005535_abnormal_body_temperature0.75488029
155MP0001756_abnormal_urination0.75350588
156MP0002876_abnormal_thyroid_physiology0.75174193
157MP0003329_amyloid_beta_deposits0.74781370
158MP0008874_decreased_physiological_sensi0.73057023
159MP0001243_abnormal_dermal_layer0.73004470
160MP0002419_abnormal_innate_immunity0.72948032
161MP0000678_abnormal_parathyroid_gland0.72946104
162MP0008469_abnormal_protein_level0.72316855
163MP0003693_abnormal_embryo_hatching0.71258866
164MP0005076_abnormal_cell_differentiation0.69496678
165MP0003786_premature_aging0.69274860
166MP0004957_abnormal_blastocyst_morpholog0.68505685
167MP0004084_abnormal_cardiac_muscle0.65188096
168MP0004484_altered_response_of0.64962508
169MP0002060_abnormal_skin_morphology0.58853591
170MP0002932_abnormal_joint_morphology0.58437143
171MP0003385_abnormal_body_wall0.58249947
172MP0003950_abnormal_plasma_membrane0.56495225
173MP0002098_abnormal_vibrissa_morphology0.56347901
174MP0001664_abnormal_digestion0.54990784
175MP0000427_abnormal_hair_cycle0.54624234
176MP0001873_stomach_inflammation0.53937670
177MP0000377_abnormal_hair_follicle0.53535339
178MP0003942_abnormal_urinary_system0.53452306
179MP0000685_abnormal_immune_system0.51966948
180MP0005360_urolithiasis0.50073486
181MP0002234_abnormal_pharynx_morphology0.49008769
182MP0003195_calcinosis0.46960028
183MP0002735_abnormal_chemical_nociception0.45376402
184MP0003718_maternal_effect0.43246235
185MP0001216_abnormal_epidermal_layer0.42822867
186MP0001764_abnormal_homeostasis0.42789418

Predicted human phenotypes

RankGene SetZ-score
1Irregular epiphyses (HP:0010582)9.28765619
2Epiphyseal dysplasia (HP:0002656)9.20506095
3Vitreoretinal degeneration (HP:0000655)7.74831308
4Cupped ribs (HP:0000887)6.43921707
5Small epiphyses (HP:0010585)6.40591443
6Hypoplastic ischia (HP:0003175)6.13572702
7Abnormal tarsal ossification (HP:0008369)6.03159677
8Metaphyseal cupping (HP:0003021)5.60867509
9Flat acetabular roof (HP:0003180)5.49080948
10Abnormality of the ischium (HP:0003174)5.40238853
11Genu varum (HP:0002970)5.31275293
12Flat capital femoral epiphysis (HP:0003370)5.29072984
13Aplasia/Hypoplasia of the pubic bone (HP:0009104)5.11116189
14Delayed epiphyseal ossification (HP:0002663)5.08272134
15Thyroid-stimulating hormone excess (HP:0002925)5.06069130
16Flattened epiphyses (HP:0003071)4.74853810
17Goiter (HP:0000853)4.51796991
18Abnormal foot bone ossification (HP:0010675)4.42105424
19Abnormality of femoral epiphyses (HP:0006499)4.33547086
20Abnormality involving the epiphyses of the lower limbs (HP:0006500)4.33547086
21Abnormality of the vertebral endplates (HP:0005106)4.19740040
22Neonatal short-limb short stature (HP:0008921)4.18964774
23Absent epiphyses (HP:0010577)4.16356770
24Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)4.16356770
25Mild short stature (HP:0003502)4.02756737
26Arthropathy (HP:0003040)3.95966400
27Abnormal rod and cone electroretinograms (HP:0008323)3.93922175
28Abnormality of the epiphysis of the femoral head (HP:0010574)3.90317830
29Hypothermia (HP:0002045)3.82970446
30Metaphyseal dysplasia (HP:0100255)3.80187840
31Short femoral neck (HP:0100864)3.78990746
32Irregular vertebral endplates (HP:0003301)3.73804940
33Severe visual impairment (HP:0001141)3.71132040
34Metaphyseal irregularity (HP:0003025)3.69412073
35Osteoarthritis (HP:0002758)3.63292539
36Congenital sensorineural hearing impairment (HP:0008527)3.62032444
37Abnormality of the femoral head (HP:0003368)3.59826017
38Abnormality of glycosphingolipid metabolism (HP:0004343)3.57393432
39Abnormality of glycolipid metabolism (HP:0010969)3.57393432
40Abnormality of liposaccharide metabolism (HP:0010968)3.57393432
41Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)3.50569302
42Abnormal vertebral ossification (HP:0100569)3.50017828
43Cervical subluxation (HP:0003308)3.40973966
44Carpal bone hypoplasia (HP:0001498)3.37826898
45Beaking of vertebral bodies (HP:0004568)3.29323694
46Abnormality of the proximal phalanges of the hand (HP:0009834)3.27353052
47Platyspondyly (HP:0000926)3.26453297
48Pili torti (HP:0003777)3.25693525
49Congenital stationary night blindness (HP:0007642)3.23096620
50Coxa vara (HP:0002812)3.21430964
51Ulnar claw (HP:0001178)3.13344634
52Vacuolated lymphocytes (HP:0001922)3.12459357
53Abnormality of carpal bone ossification (HP:0006257)3.11158559
54Protuberant abdomen (HP:0001538)3.08661738
55Vertebral clefting (HP:0008428)3.05115830
56Hyperthyroidism (HP:0000836)3.02600166
57Waddling gait (HP:0002515)3.01237869
58Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.98962989
59Decreased activity of mitochondrial respiratory chain (HP:0008972)2.98962989
60Abnormality of the pubic bones (HP:0003172)2.96492348
61Attenuation of retinal blood vessels (HP:0007843)2.87364942
62Stillbirth (HP:0003826)2.86677196
63Mutism (HP:0002300)2.73552851
64Barrel-shaped chest (HP:0001552)2.73362082
65Microvesicular hepatic steatosis (HP:0001414)2.71395853
66Nuclear cataract (HP:0100018)2.69320872
67Aplasia/hypoplasia of the femur (HP:0005613)2.69045496
68Ovoid vertebral bodies (HP:0003300)2.65395348
69Spinal cord compression (HP:0002176)2.64358973
70Limited elbow extension (HP:0001377)2.63811918
71Hypoplasia of the odontoid process (HP:0003311)2.63061423
72Thin ribs (HP:0000883)2.61710400
73Abnormality of the phalanges of the 2nd finger (HP:0009541)2.61448533
74Absent frontal sinuses (HP:0002688)2.58483529
75Glossoptosis (HP:0000162)2.58276654
76Enlarged epiphyses (HP:0010580)2.56805249
77Vertebral hypoplasia (HP:0008417)2.56220249
78Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.56220249
793-Methylglutaconic aciduria (HP:0003535)2.55157769
80Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.52677524
81Ketoacidosis (HP:0001993)2.51507044
82Gait imbalance (HP:0002141)2.49875088
83Limited hip movement (HP:0008800)2.49735168
84Increased cerebral lipofuscin (HP:0011813)2.49635145
85Thoracolumbar scoliosis (HP:0002944)2.49566348
86Autoimmune thrombocytopenia (HP:0001973)2.44285166
87Hip contracture (HP:0003273)2.40375426
88Abnormal hand bone ossification (HP:0010660)2.40227412
89Abnormal ossification of hand bones (HP:0005921)2.39360376
90Increased neuronal autofluorescent lipopigment (HP:0002074)2.38572221
91Loss of speech (HP:0002371)2.38049455
92Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.37012809
93Aplasia/Hypoplasia involving the pelvis (HP:0009103)2.36216900
94Medial flaring of the eyebrow (HP:0010747)2.34190824
95Hypoplastic pelvis (HP:0008839)2.33681527
96Abnormality of incisor morphology (HP:0011063)2.33454195
97Polyphagia (HP:0002591)2.32931445
98Ulnar bowing (HP:0003031)2.30249491
99Disproportionate short-trunk short stature (HP:0003521)2.29894971
100Abnormality of macular pigmentation (HP:0008002)2.27019778
101Inability to walk (HP:0002540)2.26817170
102Abnormality of the acetabulum (HP:0003170)2.25428136
103Entropion (HP:0000621)2.24575700
104Decreased circulating renin level (HP:0003351)2.22536290
105Albinism (HP:0001022)2.21456606
106Stomatitis (HP:0010280)2.21286762
107Congenital primary aphakia (HP:0007707)2.20292003
108Abnormality of the odontoid process (HP:0003310)2.19709144
109Aplasia/Hypoplasia involving the vertebral column (HP:0008518)2.19149503
110Cerebellar dysplasia (HP:0007033)2.19050378
111Nephrogenic diabetes insipidus (HP:0009806)2.18949975
112Progressive inability to walk (HP:0002505)2.18599473
113Lumbar hyperlordosis (HP:0002938)2.17778622
114Abnormal hair laboratory examination (HP:0003328)2.17459797
115Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)2.15789349
116Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.15386137
117Dysostosis multiplex (HP:0000943)2.14672015
118Progressive microcephaly (HP:0000253)2.13963507
119Type II lissencephaly (HP:0007260)2.13421552
120Fibular hypoplasia (HP:0003038)2.12893951
121Long clavicles (HP:0000890)2.11434692
122Ketosis (HP:0001946)2.10569203
123Hypoplastic ilia (HP:0000946)2.09245107
124Exostoses (HP:0100777)2.08362442
125Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.07888721
126Radial bowing (HP:0002986)2.07609331
127Increased intramyocellular lipid droplets (HP:0012240)2.05811461
128Atonic seizures (HP:0010819)2.05748680
129Abnormality of the vitreous humor (HP:0004327)2.03154150
130Mitochondrial inheritance (HP:0001427)2.02879356
131Failure to thrive in infancy (HP:0001531)2.02449630
132Symptomatic seizures (HP:0011145)2.02251009
133Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.01990948
134Hepatocellular necrosis (HP:0001404)1.98695658
135Aplasia/Hypoplasia of the scapulae (HP:0006713)1.97760491
136Hypoplastic scapulae (HP:0000882)1.97760491
137Abnormality of B cell number (HP:0010975)1.97175073
138Increased muscle lipid content (HP:0009058)1.95848586
139Micromelia (HP:0002983)1.94798583
140Hydroxyprolinuria (HP:0003080)1.94548718
141Abnormality of proline metabolism (HP:0010907)1.94548718
142Abnormality of the frontal sinuses (HP:0002687)1.93458072
143Short middle phalanx of finger (HP:0005819)1.93290590
144Broad phalanx (HP:0006009)1.93206095
145Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.91777877
146Abnormality of macrophages (HP:0004311)1.90968417
147Absent rod-and cone-mediated responses on ERG (HP:0007688)1.90262722
148Abnormality of the phalanges of the 5th finger (HP:0004213)1.90062927
149Aplasia/Hypoplasia of the fovea (HP:0008060)1.89953566
150Hypoplasia of the fovea (HP:0007750)1.89953566
151Tubulointerstitial nephritis (HP:0001970)1.89479592
152Hypoplasia of the capital femoral epiphysis (HP:0003090)1.89135541
153Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.88779677
154Increased CSF lactate (HP:0002490)1.88531653
155Abnormal mitochondria in muscle tissue (HP:0008316)1.88247560
156Abnormality of the lumbar spine (HP:0100712)1.86934787
157Autoimmune hemolytic anemia (HP:0001890)1.86382708
158Disinhibition (HP:0000734)1.85801158
159Relative macrocephaly (HP:0004482)1.85012661
160Hepatic necrosis (HP:0002605)1.84617315
161Abnormality of the 2nd finger (HP:0004100)1.84466332
162Broad long bones (HP:0005622)1.83798659
163Severe combined immunodeficiency (HP:0004430)1.83737259
164Flared metaphyses (HP:0003015)1.82190202
165Short ribs (HP:0000773)1.82157037
166Abnormality of polysaccharide metabolism (HP:0011012)1.81501250
167Abnormality of glycosaminoglycan metabolism (HP:0004371)1.81501250
168Abnormality of mucopolysaccharide metabolism (HP:0011020)1.81501250
169Rhizomelia (HP:0008905)1.81264089
170Thyroiditis (HP:0100646)1.80614865
171Hypoglycemic seizures (HP:0002173)1.79925573
172Abnormality of cochlea (HP:0000375)1.79016122
173Type I transferrin isoform profile (HP:0003642)1.78658006
174Methylmalonic aciduria (HP:0012120)1.77856780
175Generalized aminoaciduria (HP:0002909)1.77772795
176Genu valgum (HP:0002857)1.77192893
177Parakeratosis (HP:0001036)1.75020191
178Abnormality of dicarboxylic acid metabolism (HP:0010995)1.74426184
179Dicarboxylic aciduria (HP:0003215)1.74426184
180Retinal atrophy (HP:0001105)1.74407023
181Nephronophthisis (HP:0000090)1.74254940
182Mixed hearing impairment (HP:0000410)1.72767027
183Coarse facial features (HP:0000280)1.72507057
184Abnormality of calcium-phosphate metabolism (HP:0100530)1.71979428
185J-shaped sella turcica (HP:0002680)1.71147240
186Abnormality of endocrine pancreas physiology (HP:0012093)1.70856860
187Abnormality of the pancreatic islet cells (HP:0006476)1.70856860
188Bony spicule pigmentary retinopathy (HP:0007737)1.70348041
189Morphological abnormality of the inner ear (HP:0011390)1.69344963
190Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.68882021
191Combined immunodeficiency (HP:0005387)1.68787865
192Recurrent abscess formation (HP:0002722)1.65902741
193Abnormal protein glycosylation (HP:0012346)1.65452819
194Abnormal glycosylation (HP:0012345)1.65452819
195Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.65452819
196Abnormal protein N-linked glycosylation (HP:0012347)1.65452819
197Asthma (HP:0002099)1.64381833

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR26.43414040
2MAP3K35.81870217
3STK38L4.06466911
4NME14.02007826
5PRKG24.00596720
6MAP4K13.98379990
7MST43.93456512
8EPHA23.81328343
9STK243.36144874
10PINK12.62996389
11TAOK32.45467511
12ERBB32.41542500
13NME22.33664078
14PIM22.27627248
15MARK12.02426747
16EIF2AK31.98507871
17MAPK131.96994285
18TRPM71.95859975
19CASK1.92375123
20BMPR1B1.89481784
21MAP2K71.87703586
22MAPK151.86320824
23AKT31.86086167
24MAPKAPK31.77701772
25INSRR1.75085602
26MAP4K21.74972227
27EIF2AK11.74280995
28PDK21.71407918
29CDK121.58599532
30FRK1.58265723
31BLK1.55438370
32MAP2K61.50398055
33TXK1.50372745
34RPS6KB21.46143751
35BCKDK1.40452448
36MARK31.39501913
37WNK31.35942181
38MET1.30430951
39MAP2K41.20736778
40PHKG21.19362082
41PHKG11.19362082
42MAP3K131.17569401
43PRKD31.17548452
44MST1R1.17451801
45TNK21.16094938
46PLK41.09520997
47RIPK11.09483249
48PAK61.08586838
49MAP3K41.07433369
50STK31.06759638
51KDR1.06674023
52TAOK11.06269071
53FES1.04912978
54DYRK31.04530923
55STK101.04014692
56TAOK21.02650843
57TESK11.01654174
58BRD40.98336979
59UHMK10.97268080
60ARAF0.94705915
61IKBKE0.93050018
62PLK20.92639552
63MKNK20.91270446
64CHUK0.90701419
65PTK2B0.86885385
66PRKCI0.83580903
67SIK20.83206259
68NUAK10.82578003
69ERN10.82540344
70RPS6KA50.82233847
71SYK0.81862398
72IRAK30.80828904
73LYN0.78479475
74PKN10.76229764
75IRAK40.75700589
76KIT0.75528324
77FGR0.75424761
78EPHB20.75187815
79GRK70.72923025
80CLK10.71943390
81PAK40.70456816
82EIF2AK20.70411814
83PRKD20.69344383
84DYRK1A0.69037162
85CDK30.68912217
86CCNB10.68147703
87TSSK60.67230168
88PRKCG0.67173040
89PRKCZ0.66765760
90RPS6KA20.64655077
91LIMK10.64163868
92RPS6KL10.63051887
93RPS6KC10.63051887
94MAP3K110.62943431
95RPS6KA60.62673185
96CSNK1G30.61806292
97MELK0.61737745
98SIK10.60900339
99MAPK70.59440922
100CDK70.58274417
101RPS6KB10.58237261
102PBK0.57545199
103PRKAA10.56824802
104ZAP700.56568996
105DAPK20.56312345
106TGFBR20.55006705
107ROCK10.54593296
108BTK0.54375070
109PRKCQ0.54296866
110MKNK10.53446430
111PIK3CA0.53099442
112MAP2K30.52479170
113MARK20.49006676
114KSR10.48732689
115GSK3A0.47946331
116PLK30.47919386
117TLK10.47571732
118ERBB40.47044834
119PIM10.46627875
120PTK60.46458480
121LCK0.46161870
122GRK60.45903166
123PRKCD0.45135118
124DYRK20.44763267
125MAP3K10.44561422
126PDK10.44260165
127TGFBR10.44018307
128NEK60.43356842
129DAPK10.43088291
130CSNK1G20.42893981
131MAPK120.42443027
132STK380.41318755
133RPS6KA10.40981247
134CSNK1A1L0.40597216
135MAPK40.40314957
136AURKB0.39271020
137MAP3K50.37876635
138MAP3K80.37553731
139TRIB30.37530836
140BMX0.36859276
141EPHB10.36802246
142MUSK0.36585548
143PAK20.35272288
144PTK20.35096184
145LATS10.34820514
146CSF1R0.34170803
147ZAK0.34106755
148EPHA30.33835027
149ILK0.33176212
150YES10.32463964
151MAP3K140.30423088
152CSK0.30018747
153LATS20.29250129
154FER0.28774058
155PIK3CG0.28025987
156ACVR1B0.27939636
157NLK0.27857073
158MAP2K10.27506600
159ABL10.26883784
160TTK0.26820138
161PRKG10.26749289
162IKBKB0.25326952
163GRK10.25318705
164PAK30.25022496
165ADRBK20.24356903
166MAP3K60.23859491
167PAK10.23640953
168ADRBK10.23347050
169INSR0.22777748
170PASK0.21123830
171TBK10.20464566
172MAP2K20.20231056
173DYRK1B0.18526631
174IGF1R0.17455020

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein digestion and absorption_Homo sapiens_hsa049745.44931159
2ECM-receptor interaction_Homo sapiens_hsa045125.38483109
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005325.33968837
4Autoimmune thyroid disease_Homo sapiens_hsa053203.55364060
5Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005203.55040210
6Butanoate metabolism_Homo sapiens_hsa006502.75252458
7Maturity onset diabetes of the young_Homo sapiens_hsa049502.67616310
8Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.65259001
9Sphingolipid metabolism_Homo sapiens_hsa006002.65114200
10Type I diabetes mellitus_Homo sapiens_hsa049402.53361254
11Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.51665103
12Phototransduction_Homo sapiens_hsa047442.50529655
13Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.42405362
14Folate biosynthesis_Homo sapiens_hsa007902.34416263
15Primary immunodeficiency_Homo sapiens_hsa053402.30026584
16Other glycan degradation_Homo sapiens_hsa005112.28711535
17Graft-versus-host disease_Homo sapiens_hsa053322.13395230
18Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.11175902
19Regulation of autophagy_Homo sapiens_hsa041402.03224789
20Collecting duct acid secretion_Homo sapiens_hsa049662.03128650
21Rheumatoid arthritis_Homo sapiens_hsa053232.03125402
22Focal adhesion_Homo sapiens_hsa045102.01830175
23Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.97805235
24Renin-angiotensin system_Homo sapiens_hsa046141.97279695
25Allograft rejection_Homo sapiens_hsa053301.94608845
26Steroid biosynthesis_Homo sapiens_hsa001001.94590493
27Starch and sucrose metabolism_Homo sapiens_hsa005001.93508502
28Lysosome_Homo sapiens_hsa041421.92034545
29Galactose metabolism_Homo sapiens_hsa000521.86536990
30RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.83487654
31Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.79985653
32Oxidative phosphorylation_Homo sapiens_hsa001901.68030530
33Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.65249636
34Taste transduction_Homo sapiens_hsa047421.59347146
35Mineral absorption_Homo sapiens_hsa049781.55043130
36PI3K-Akt signaling pathway_Homo sapiens_hsa041511.47475952
37Sulfur metabolism_Homo sapiens_hsa009201.41995137
38Vitamin digestion and absorption_Homo sapiens_hsa049771.38739165
39* TGF-beta signaling pathway_Homo sapiens_hsa043501.34274478
40alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.29591931
41Parkinsons disease_Homo sapiens_hsa050121.29268293
42Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.26616510
43Fat digestion and absorption_Homo sapiens_hsa049751.25207625
44Arachidonic acid metabolism_Homo sapiens_hsa005901.23820222
45Proteasome_Homo sapiens_hsa030501.22656467
46Pentose and glucuronate interconversions_Homo sapiens_hsa000401.21477521
47Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.21053554
48Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.15901685
49Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.15784289
50Ribosome_Homo sapiens_hsa030101.15241798
51Malaria_Homo sapiens_hsa051441.14894791
52Toll-like receptor signaling pathway_Homo sapiens_hsa046201.12904372
53Antigen processing and presentation_Homo sapiens_hsa046121.12693730
54Peroxisome_Homo sapiens_hsa041461.09074170
55Synaptic vesicle cycle_Homo sapiens_hsa047211.08954294
56Arginine and proline metabolism_Homo sapiens_hsa003301.07370037
57Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.05115512
58Caffeine metabolism_Homo sapiens_hsa002321.01014991
59Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.99400721
60Fructose and mannose metabolism_Homo sapiens_hsa000510.97949048
61Proteoglycans in cancer_Homo sapiens_hsa052050.97725470
62Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.96900897
63Type II diabetes mellitus_Homo sapiens_hsa049300.93847988
64Glutathione metabolism_Homo sapiens_hsa004800.93811838
65beta-Alanine metabolism_Homo sapiens_hsa004100.92834296
66Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.92745317
67Insulin secretion_Homo sapiens_hsa049110.92638010
68Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.92110829
69RNA transport_Homo sapiens_hsa030130.90756161
70p53 signaling pathway_Homo sapiens_hsa041150.90570157
71GABAergic synapse_Homo sapiens_hsa047270.88540154
72Hematopoietic cell lineage_Homo sapiens_hsa046400.86334397
73* Hippo signaling pathway_Homo sapiens_hsa043900.84563095
74Cardiac muscle contraction_Homo sapiens_hsa042600.84526141
75Protein export_Homo sapiens_hsa030600.84174937
76Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.83220824
77Linoleic acid metabolism_Homo sapiens_hsa005910.82541723
78Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.82490817
79ABC transporters_Homo sapiens_hsa020100.82298238
80Bladder cancer_Homo sapiens_hsa052190.80029982
81Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.77321554
82Selenocompound metabolism_Homo sapiens_hsa004500.76862973
83Osteoclast differentiation_Homo sapiens_hsa043800.75908996
84One carbon pool by folate_Homo sapiens_hsa006700.75276473
85NOD-like receptor signaling pathway_Homo sapiens_hsa046210.74147739
86Glutamatergic synapse_Homo sapiens_hsa047240.73048753
87Morphine addiction_Homo sapiens_hsa050320.72068157
88Ether lipid metabolism_Homo sapiens_hsa005650.71537668
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.71509132
90Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.70576664
91Nicotine addiction_Homo sapiens_hsa050330.67518095
92Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64132462
93Tuberculosis_Homo sapiens_hsa051520.63601154
94Non-homologous end-joining_Homo sapiens_hsa034500.63577344
95Basal cell carcinoma_Homo sapiens_hsa052170.63488303
96Nucleotide excision repair_Homo sapiens_hsa034200.62888814
97Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.62605027
98Serotonergic synapse_Homo sapiens_hsa047260.61892651
99Adherens junction_Homo sapiens_hsa045200.61296704
100Glycerophospholipid metabolism_Homo sapiens_hsa005640.60489746
101Tryptophan metabolism_Homo sapiens_hsa003800.60271580
102Herpes simplex infection_Homo sapiens_hsa051680.59889748
103Apoptosis_Homo sapiens_hsa042100.59710236
104Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.59704583
105Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.59190313
106Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.58506258
107Staphylococcus aureus infection_Homo sapiens_hsa051500.58270774
108Alzheimers disease_Homo sapiens_hsa050100.58072789
109DNA replication_Homo sapiens_hsa030300.57508533
110Phagosome_Homo sapiens_hsa041450.54299605
111N-Glycan biosynthesis_Homo sapiens_hsa005100.53846389
112Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.52423188
113Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.52392174
114Calcium signaling pathway_Homo sapiens_hsa040200.52359401
115Pyrimidine metabolism_Homo sapiens_hsa002400.52329447
116Cell cycle_Homo sapiens_hsa041100.51484028
117Thyroid hormone synthesis_Homo sapiens_hsa049180.50469242
118Thyroid cancer_Homo sapiens_hsa052160.50387076
119TNF signaling pathway_Homo sapiens_hsa046680.49926024
120Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.49398540
121Mismatch repair_Homo sapiens_hsa034300.49161676
122AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.48740851
123Huntingtons disease_Homo sapiens_hsa050160.48540813
124Legionellosis_Homo sapiens_hsa051340.48516554
125Histidine metabolism_Homo sapiens_hsa003400.48132817
126Viral myocarditis_Homo sapiens_hsa054160.47908829
127Pertussis_Homo sapiens_hsa051330.47715979
128Hedgehog signaling pathway_Homo sapiens_hsa043400.47480124
129RNA polymerase_Homo sapiens_hsa030200.46992390
130HIF-1 signaling pathway_Homo sapiens_hsa040660.46705577
131Amoebiasis_Homo sapiens_hsa051460.46450185
132Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.45222036
133Base excision repair_Homo sapiens_hsa034100.43538377
134Circadian entrainment_Homo sapiens_hsa047130.43527637
135MicroRNAs in cancer_Homo sapiens_hsa052060.43324099
136African trypanosomiasis_Homo sapiens_hsa051430.42587285
137Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.42229960
138Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42140083
139Adipocytokine signaling pathway_Homo sapiens_hsa049200.41307433
140Ovarian steroidogenesis_Homo sapiens_hsa049130.41276171
141HTLV-I infection_Homo sapiens_hsa051660.40133182
142Gap junction_Homo sapiens_hsa045400.40027740
143Purine metabolism_Homo sapiens_hsa002300.39927707
144Homologous recombination_Homo sapiens_hsa034400.39579703
145Tight junction_Homo sapiens_hsa045300.39079941
146Hepatitis B_Homo sapiens_hsa051610.38861403
147Gastric acid secretion_Homo sapiens_hsa049710.38246284
148Regulation of actin cytoskeleton_Homo sapiens_hsa048100.38162429
149Biosynthesis of amino acids_Homo sapiens_hsa012300.38038455
150Influenza A_Homo sapiens_hsa051640.37261172
151Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37186935
152Intestinal immune network for IgA production_Homo sapiens_hsa046720.36857742
153Vibrio cholerae infection_Homo sapiens_hsa051100.36462331
154Basal transcription factors_Homo sapiens_hsa030220.36331749
155Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.36080968
156Leukocyte transendothelial migration_Homo sapiens_hsa046700.34796301
157Fatty acid metabolism_Homo sapiens_hsa012120.33837656
158Glycosaminoglycan degradation_Homo sapiens_hsa005310.32346664
159SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32129986
160Pathways in cancer_Homo sapiens_hsa052000.31785545
161Long-term depression_Homo sapiens_hsa047300.31419389
162Aldosterone synthesis and secretion_Homo sapiens_hsa049250.31418680
163Chemokine signaling pathway_Homo sapiens_hsa040620.30817967
164T cell receptor signaling pathway_Homo sapiens_hsa046600.30152788
165Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.29842036
166Small cell lung cancer_Homo sapiens_hsa052220.29234752
167Wnt signaling pathway_Homo sapiens_hsa043100.28977270
168Olfactory transduction_Homo sapiens_hsa047400.26788553
169Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.26611610
170Asthma_Homo sapiens_hsa053100.26564755
171Viral carcinogenesis_Homo sapiens_hsa052030.26071119
172Pentose phosphate pathway_Homo sapiens_hsa000300.25561583
173Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.20745464
174NF-kappa B signaling pathway_Homo sapiens_hsa040640.20582405

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