SAR1A

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1maintenance of protein localization in endoplasmic reticulum (GO:0035437)7.32557395
2protein retention in ER lumen (GO:0006621)6.58854098
3COPII vesicle coating (GO:0048208)6.08687090
4retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)6.04122349
5activation of signaling protein activity involved in unfolded protein response (GO:0006987)5.48586399
6positive regulation of nuclease activity (GO:0032075)5.26326740
7proteasome assembly (GO:0043248)5.19840746
8vesicle coating (GO:0006901)4.95151275
9collagen fibril organization (GO:0030199)4.75758634
10endoplasmic reticulum unfolded protein response (GO:0030968)4.74676693
11regulation of nuclease activity (GO:0032069)4.73530799
12exocrine pancreas development (GO:0031017)4.71149468
13cellular response to unfolded protein (GO:0034620)4.54713748
14protein heterotrimerization (GO:0070208)4.45610166
15peptidyl-proline hydroxylation (GO:0019511)4.45481038
16ER-nucleus signaling pathway (GO:0006984)4.37115075
17cellular response to topologically incorrect protein (GO:0035967)4.28049157
18protein hydroxylation (GO:0018126)4.20532663
19DNA double-strand break processing (GO:0000729)4.16125688
204-hydroxyproline metabolic process (GO:0019471)3.98642587
21cullin deneddylation (GO:0010388)3.90829667
22protein maturation by protein folding (GO:0022417)3.86545785
23keratan sulfate catabolic process (GO:0042340)3.84656681
24response to endoplasmic reticulum stress (GO:0034976)3.77176790
25regulation of glucokinase activity (GO:0033131)3.71683333
26regulation of hexokinase activity (GO:1903299)3.71683333
27cellular response to vitamin (GO:0071295)3.71678919
28lactate metabolic process (GO:0006089)3.70443738
29ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)3.65642435
30platelet dense granule organization (GO:0060155)3.65406996
31cellular response to vitamin D (GO:0071305)3.65012017
32protein K6-linked ubiquitination (GO:0085020)3.63288607
33respiratory chain complex IV assembly (GO:0008535)3.63207625
34response to unfolded protein (GO:0006986)3.62298581
35positive regulation of protein autophosphorylation (GO:0031954)3.60076983
36regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.57520455
37protein deneddylation (GO:0000338)3.54743100
38keratinocyte development (GO:0003334)3.48769157
39water-soluble vitamin biosynthetic process (GO:0042364)3.48021510
40response to topologically incorrect protein (GO:0035966)3.43609159
41toxin metabolic process (GO:0009404)3.41704507
42apoptotic cell clearance (GO:0043277)3.39810372
43ER to Golgi vesicle-mediated transport (GO:0006888)3.37249557
44negative regulation of fatty acid transport (GO:2000192)3.32745458
45skin morphogenesis (GO:0043589)3.31175966
46peptidyl-asparagine modification (GO:0018196)3.28927663
47protein N-linked glycosylation via asparagine (GO:0018279)3.27342202
48RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.20090261
49positive regulation of glycogen biosynthetic process (GO:0045725)3.20003589
50sequestering of metal ion (GO:0051238)3.18171691
51signal peptide processing (GO:0006465)3.14211082
52response to pheromone (GO:0019236)3.13026278
53cytochrome complex assembly (GO:0017004)3.12726703
54replication fork processing (GO:0031297)3.09884852
55regulation of type B pancreatic cell apoptotic process (GO:2000674)3.06685627
56regulation of meiosis I (GO:0060631)3.02891308
57regulation of glucose import in response to insulin stimulus (GO:2001273)3.01208129
58branched-chain amino acid catabolic process (GO:0009083)3.01165921
59protein K11-linked deubiquitination (GO:0035871)2.99172248
60negative regulation of DNA-dependent DNA replication (GO:2000104)2.98757826
61chondrocyte proliferation (GO:0035988)2.97369196
62chondrocyte development (GO:0002063)2.97055172
63protein N-linked glycosylation (GO:0006487)2.96066462
64UDP-N-acetylglucosamine metabolic process (GO:0006047)2.95512593
65regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.94163720
66peptide hormone processing (GO:0016486)2.91775413
67endodermal cell differentiation (GO:0035987)2.90412139
68collagen metabolic process (GO:0032963)2.88679130
69proline biosynthetic process (GO:0006561)2.87887266
70regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.86844197
71Golgi organization (GO:0007030)2.85319088
72nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.82878604
73cellular response to nutrient (GO:0031670)2.82351659
74positive regulation of hormone biosynthetic process (GO:0046886)2.82287405
75female gonad development (GO:0008585)2.82193828
76regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.82067244
77regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.81451924
78tricarboxylic acid metabolic process (GO:0072350)2.81410382
79somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.80817252
80isotype switching (GO:0045190)2.80817252
81somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.80817252
82regulation of cellular amino acid metabolic process (GO:0006521)2.80601943
83collagen catabolic process (GO:0030574)2.79929733
84positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.79926991
85type B pancreatic cell development (GO:0003323)2.79434169
86plasma membrane repair (GO:0001778)2.78796828
87cell adhesion mediated by integrin (GO:0033627)2.78326247
88regulation of protein glycosylation (GO:0060049)2.78227687
89regulation of sulfur metabolic process (GO:0042762)2.78104648
90cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.76718165
91detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.76646857
92vascular endothelial growth factor signaling pathway (GO:0038084)2.76630082
93multicellular organismal macromolecule metabolic process (GO:0044259)2.76289606
94multicellular organismal metabolic process (GO:0044236)2.75180473
95polarized epithelial cell differentiation (GO:0030859)2.74541012
96low-density lipoprotein particle clearance (GO:0034383)2.73288031
97multicellular organismal catabolic process (GO:0044243)2.73109246
98exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.72433879
99protein complex biogenesis (GO:0070271)2.71470541
100negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.70836751
101stress fiber assembly (GO:0043149)2.70779273
102DNA deamination (GO:0045006)2.69928090
103glandular epithelial cell development (GO:0002068)2.69439817
104regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.68707670
105dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.68216091
106sequestering of extracellular ligand from receptor (GO:0035581)2.68157778
107regulation of acyl-CoA biosynthetic process (GO:0050812)2.67593089
108positive regulation of glycoprotein biosynthetic process (GO:0010560)2.67355073
109positive regulation of fatty acid beta-oxidation (GO:0032000)2.67240957
110negative regulation of cartilage development (GO:0061037)2.66475549
111ER overload response (GO:0006983)2.66306169
112regulation of protein autophosphorylation (GO:0031952)2.65203823
113DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.62718407
114insulin-like growth factor receptor signaling pathway (GO:0048009)2.62555020
115extracellular matrix disassembly (GO:0022617)2.62282579
116basement membrane organization (GO:0071711)2.61590440
117positive regulation of cellular response to insulin stimulus (GO:1900078)2.61499721
118nucleotide-sugar biosynthetic process (GO:0009226)2.61428114
119postreplication repair (GO:0006301)2.60652473
120cellular zinc ion homeostasis (GO:0006882)2.59225260
121synapsis (GO:0007129)2.58736384
122signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.58292437
123signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.58292437
124signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.58292437
125negative regulation of glycoprotein biosynthetic process (GO:0010561)2.57709067
126endocrine pancreas development (GO:0031018)2.57511636
127intra-Golgi vesicle-mediated transport (GO:0006891)2.57473617
128L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.54642649
129mitochondrial respiratory chain complex assembly (GO:0033108)2.54323305
130recombinational repair (GO:0000725)2.53620963
131double-strand break repair via homologous recombination (GO:0000724)2.53566689
132intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.53364615
133signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.53364615
134limb bud formation (GO:0060174)2.53305688
135zinc ion transport (GO:0006829)2.53105941
136intraciliary transport (GO:0042073)2.50329438
137positive regulation of actin filament depolymerization (GO:0030836)2.50253514
138positive regulation of glycogen metabolic process (GO:0070875)2.50124024
139peptidyl-histidine modification (GO:0018202)2.50017794
140positive regulation of p38MAPK cascade (GO:1900745)2.49513308
141mannosylation (GO:0097502)2.48811230
142ketone body metabolic process (GO:1902224)2.47570725
143protein neddylation (GO:0045116)2.47333357
144signal transduction involved in cell cycle checkpoint (GO:0072395)2.45828850
145protein heterotetramerization (GO:0051290)2.45625832
146dopamine transport (GO:0015872)2.45500174
147ventricular cardiac muscle cell development (GO:0055015)2.45122239
148peptidyl-cysteine modification (GO:0018198)2.44902885
149negative regulation of catenin import into nucleus (GO:0035414)2.44855116
150cornea development in camera-type eye (GO:0061303)2.44809659
151regulation of fatty acid beta-oxidation (GO:0031998)2.44557787
152regulation of DNA endoreduplication (GO:0032875)2.44396349
153growth hormone secretion (GO:0030252)2.43770986
154inositol phosphate catabolic process (GO:0071545)2.43640801
155anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.43347183
156negative regulation of chondrocyte differentiation (GO:0032331)2.43259458
157behavioral response to ethanol (GO:0048149)2.42539979
158positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.42529182
159prenylation (GO:0097354)2.42388459
160protein prenylation (GO:0018342)2.42388459
161negative regulation of cell size (GO:0045792)2.42143898
162kidney morphogenesis (GO:0060993)2.41568627
163glandular epithelial cell differentiation (GO:0002067)2.41316832
164anterograde synaptic vesicle transport (GO:0048490)2.40713007
165regulation of cofactor metabolic process (GO:0051193)2.40288167
166regulation of coenzyme metabolic process (GO:0051196)2.40288167
167Golgi vesicle transport (GO:0048193)2.40213744
168signal transduction involved in DNA integrity checkpoint (GO:0072401)2.39452011
169signal transduction involved in DNA damage checkpoint (GO:0072422)2.39452011
170lipid particle organization (GO:0034389)2.39387363
171cell migration involved in sprouting angiogenesis (GO:0002042)2.39263609
172positive regulation of fatty acid oxidation (GO:0046321)2.39246597
173cilium morphogenesis (GO:0060271)2.37860034
174DNA catabolic process, exonucleolytic (GO:0000738)2.37540848
175negative regulation of ligase activity (GO:0051352)2.37222908
176negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.37222908
177positive regulation of glycoprotein metabolic process (GO:1903020)2.36917309
178positive regulation of glycolytic process (GO:0045821)2.36643378
179valine metabolic process (GO:0006573)2.36347606
180histone H2A acetylation (GO:0043968)2.35441265
181protein K11-linked ubiquitination (GO:0070979)2.35345152
182response to X-ray (GO:0010165)2.34969288
183regulation of glycogen biosynthetic process (GO:0005979)2.34935841
184regulation of glucan biosynthetic process (GO:0010962)2.34935841
185regulation of nuclear cell cycle DNA replication (GO:0033262)2.34809996
186regulation of acrosome reaction (GO:0060046)2.34420649
187glial cell proliferation (GO:0014009)2.32356523
188protein autoprocessing (GO:0016540)2.32266576
189histone exchange (GO:0043486)2.32130890
190neural tube formation (GO:0001841)2.31055054
191regulation of translational fidelity (GO:0006450)2.30982285
192maternal placenta development (GO:0001893)2.30393356
193ribosome assembly (GO:0042255)2.30383232
194chromatin remodeling at centromere (GO:0031055)2.30205022
195regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.29848686
196regulation of mitotic spindle checkpoint (GO:1903504)2.29848686
197Golgi transport vesicle coating (GO:0048200)10.4763990
198COPI coating of Golgi vesicle (GO:0048205)10.4763990

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.04803053
2CLOCK_20551151_ChIP-Seq_293T_Human4.97920480
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.17515255
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.07327427
5TP63_17297297_ChIP-ChIP_HaCaT_Human3.98665821
6RARG_19884340_ChIP-ChIP_MEFs_Mouse3.83852185
7SALL1_21062744_ChIP-ChIP_HESCs_Human3.32158075
8TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.24815844
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.15743430
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.06394378
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.83444724
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.61834286
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.58475085
14VDR_22108803_ChIP-Seq_LS180_Human2.55073734
15* GABP_17652178_ChIP-ChIP_JURKAT_Human2.54625827
16GATA1_22025678_ChIP-Seq_K562_Human2.54281878
17TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.53300570
18GBX2_23144817_ChIP-Seq_PC3_Human2.43054833
19EGR1_19374776_ChIP-ChIP_THP-1_Human2.38636409
20ELK1_19687146_ChIP-ChIP_HELA_Human2.37314515
21CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.34971161
22HIF1A_21447827_ChIP-Seq_MCF-7_Human2.23496584
23EWS_26573619_Chip-Seq_HEK293_Human2.21661896
24FUS_26573619_Chip-Seq_HEK293_Human2.20579572
25RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.20165090
26P300_19829295_ChIP-Seq_ESCs_Human2.17164303
27EST1_17652178_ChIP-ChIP_JURKAT_Human2.14254150
28FLI1_27457419_Chip-Seq_LIVER_Mouse2.11685488
29E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.99363627
30ESR1_21235772_ChIP-Seq_MCF-7_Human1.98364663
31ZNF263_19887448_ChIP-Seq_K562_Human1.98271311
32AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.94681973
33HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.94418039
34ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.93672600
35CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.93516550
36SMAD_19615063_ChIP-ChIP_OVARY_Human1.91932486
37ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.89920623
38TAF15_26573619_Chip-Seq_HEK293_Human1.84197993
39DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.82004136
40SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.81466791
41* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.78982949
42ATF3_27146783_Chip-Seq_COLON_Human1.78439572
43WT1_19549856_ChIP-ChIP_CCG9911_Human1.76087202
44PCGF2_27294783_Chip-Seq_ESCs_Mouse1.71834252
45* FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.71072690
46ELK3_25401928_ChIP-Seq_HUVEC_Human1.66644659
47ZFX_18555785_ChIP-Seq_MESCs_Mouse1.66305448
48ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.66246771
49SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.65557518
50IGF1R_20145208_ChIP-Seq_DFB_Human1.64769495
51EZH2_27294783_Chip-Seq_NPCs_Mouse1.64544427
52RXR_22158963_ChIP-Seq_LIVER_Mouse1.63354141
53* BRD4_25478319_ChIP-Seq_HGPS_Human1.62482683
54ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.61091607
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.60884197
56CTBP2_25329375_ChIP-Seq_LNCAP_Human1.60859243
57PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.58944678
58TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.58765389
59P300_27058665_Chip-Seq_ZR-75-30cells_Human1.55921285
60NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.55135023
61BCAT_22108803_ChIP-Seq_LS180_Human1.54643434
62KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.53406808
63TFEB_21752829_ChIP-Seq_HELA_Human1.52669733
64STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.52348148
65OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.50843709
66SUZ12_27294783_Chip-Seq_NPCs_Mouse1.50493799
67ER_23166858_ChIP-Seq_MCF-7_Human1.49694926
68GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49274153
69CJUN_26792858_Chip-Seq_BT549_Human1.47863319
70SMAD4_21799915_ChIP-Seq_A2780_Human1.47288789
71ESR2_21235772_ChIP-Seq_MCF-7_Human1.46990545
72MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.45877646
73MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.44502586
74E2F4_17652178_ChIP-ChIP_JURKAT_Human1.43750614
75CTBP1_25329375_ChIP-Seq_LNCAP_Human1.43594398
76UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.42851777
77TBX20_22080862_ChIP-Seq_HEART_Mouse1.42492355
78TBX20_22328084_ChIP-Seq_HEART_Mouse1.42492355
79NFE2_27457419_Chip-Seq_LIVER_Mouse1.42083459
80PADI4_21655091_ChIP-ChIP_MCF-7_Human1.41777014
81CHD1_26751641_Chip-Seq_LNCaP_Human1.41710101
82PPARA_22158963_ChIP-Seq_LIVER_Mouse1.40821640
83WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.40792113
84IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.40543809
85CBP_20019798_ChIP-Seq_JUKART_Human1.40543809
86MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.40127070
87TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.38744599
88MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.38617266
89NANOG_19829295_ChIP-Seq_ESCs_Human1.38366864
90SOX2_19829295_ChIP-Seq_ESCs_Human1.38366864
91VDR_23849224_ChIP-Seq_CD4+_Human1.37908392
92SMAD3_21741376_ChIP-Seq_EPCs_Human1.36326085
93RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.36050210
94CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.35835995
95LXR_22292898_ChIP-Seq_THP-1_Human1.33599102
96SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33207601
97RACK7_27058665_Chip-Seq_MCF-7_Human1.33088993
98LXR_22158963_ChIP-Seq_LIVER_Mouse1.33055338
99SOX2_20726797_ChIP-Seq_SW620_Human1.32633933
100PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.32102077
101HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.31887344
102NANOG_18555785_Chip-Seq_ESCs_Mouse1.31720928
103AR_25329375_ChIP-Seq_VCAP_Human1.31247333
104EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.31053094
105NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.30682597
106* CRX_20693478_ChIP-Seq_RETINA_Mouse1.30645999
107EP300_21415370_ChIP-Seq_HL-1_Mouse1.29357638
108* UBF1/2_26484160_Chip-Seq_HMECs_Human1.29291855
109CDX2_22108803_ChIP-Seq_LS180_Human1.29066838
110ELK1_22589737_ChIP-Seq_MCF10A_Human1.29065873
111TCF4_22108803_ChIP-Seq_LS180_Human1.28962556
112* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.28668998
113HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.28454628
114SALL4_18804426_ChIP-ChIP_XEN_Mouse1.27595118
115FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.27146934
116TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.26783514
117PCGF2_27294783_Chip-Seq_NPCs_Mouse1.26691415
118* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.26405805
119TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.26306054
120CREB1_15753290_ChIP-ChIP_HEK293T_Human1.26156035
121STAT3_23295773_ChIP-Seq_U87_Human1.25911823
122PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.25158147
123TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.24457582
124CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.24150881
125EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.23226751
126SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.22656636
127KLF5_20875108_ChIP-Seq_MESCs_Mouse1.21448059
128MYC_18940864_ChIP-ChIP_HL60_Human1.20702868
129KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.20353650
130POU5F1_16153702_ChIP-ChIP_HESCs_Human1.18772315
131CDX2_19796622_ChIP-Seq_MESCs_Mouse1.18747454
132SRF_21415370_ChIP-Seq_HL-1_Mouse1.18562135
133* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.18067143
134ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.17897458
135P53_22387025_ChIP-Seq_ESCs_Mouse1.17629104
136NOTCH1_21737748_ChIP-Seq_TLL_Human1.17625583
137TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17601327
138* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.16784330
139FOXM1_26456572_ChIP-Seq_MCF-7_Human1.16178296
140NR3C1_21868756_ChIP-Seq_MCF10A_Human1.16007737
141SOX2_27498859_Chip-Seq_STOMACH_Mouse1.15570559
142TOP2B_26459242_ChIP-Seq_MCF-7_Human1.12839895
143SUZ12_18555785_Chip-Seq_ESCs_Mouse1.12183073
144CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.11298687
145E2F1_18555785_Chip-Seq_ESCs_Mouse1.09608972
146GATA3_24758297_ChIP-Seq_MCF-7_Human1.09571646
147TCF4_23295773_ChIP-Seq_U87_Human1.09516972
148* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.09280420
149SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.09271571
150SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.09271571
151PPAR_26484153_Chip-Seq_NCI-H1993_Human1.08953442
152TP53_22573176_ChIP-Seq_HFKS_Human1.08902426
153NRF2_20460467_ChIP-Seq_MEFs_Mouse1.08835435
154NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.08835435
155EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.08502668
156TP53_18474530_ChIP-ChIP_U2OS_Human1.07991011
157ZFP281_18757296_ChIP-ChIP_E14_Mouse1.07987372
158* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.07449397
159TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.06708271
160CMYC_18555785_Chip-Seq_ESCs_Mouse1.06494523
161CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.06397922
162STAT3_18555785_Chip-Seq_ESCs_Mouse1.06310575
163* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.06074539
164JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.05745895
165SMAD4_21741376_ChIP-Seq_EPCs_Human1.05548239
166GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.05452204
167BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.04913067
168P300_18555785_Chip-Seq_ESCs_Mouse1.04528258
169UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.04502868
170FOXA1_21572438_ChIP-Seq_LNCaP_Human1.03300710
171TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.02978563
172PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.02751314
173FOXO3_23340844_ChIP-Seq_DLD1_Human1.02687843
174GATA4_21415370_ChIP-Seq_HL-1_Mouse1.01900430
175SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.97902765
176NFIB_24661679_ChIP-Seq_LUNG_Mouse0.97371411
177GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.97086642
178PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.95333722
179ZNF274_21170338_ChIP-Seq_K562_Hela0.94364801
180MYC_22102868_ChIP-Seq_BL_Human0.93792955
181CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.93501819
182HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.91979987
183CREB1_26743006_Chip-Seq_LNCaP_Human0.91840556
184TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.91241885
185TBX5_21415370_ChIP-Seq_HL-1_Mouse0.90439898
186P63_26484246_Chip-Seq_KERATINOCYTES_Human0.89854471
187* SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.89041342
188NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.88787540
189JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.87869615
190EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.86570443
191BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.85825870

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen6.31221911
2MP0005275_abnormal_skin_tensile4.24736573
3MP0005503_abnormal_tendon_morphology3.98184766
4MP0000372_irregular_coat_pigmentation3.64077505
5MP0000013_abnormal_adipose_tissue3.56991415
6MP0003705_abnormal_hypodermis_morpholog3.32501802
7MP0002102_abnormal_ear_morphology3.25976080
8MP0003950_abnormal_plasma_membrane3.24310622
9MP0004272_abnormal_basement_membrane2.66354596
10MP0003283_abnormal_digestive_organ2.66035454
11MP0006054_spinal_hemorrhage2.57989030
12MP0002877_abnormal_melanocyte_morpholog2.43353234
13MP0002938_white_spotting2.36563686
14MP0005367_renal/urinary_system_phenotyp2.35459468
15MP0000516_abnormal_urinary_system2.35459468
16MP0008877_abnormal_DNA_methylation2.32144484
17MP0009780_abnormal_chondrocyte_physiolo2.15628474
18MP0003279_aneurysm2.14968020
19MP0008058_abnormal_DNA_repair2.12159196
20MP0000003_abnormal_adipose_tissue2.09726425
21MP0002837_dystrophic_cardiac_calcinosis2.04938222
22MP0002909_abnormal_adrenal_gland2.03022232
23MP0001958_emphysema1.97328506
24MP0002896_abnormal_bone_mineralization1.97120969
25MP0005220_abnormal_exocrine_pancreas1.94398435
26MP0006072_abnormal_retinal_apoptosis1.81947698
27MP0003786_premature_aging1.81773763
28MP0003880_abnormal_central_pattern1.79941302
29MP0008057_abnormal_DNA_replication1.78685986
30MP0005551_abnormal_eye_electrophysiolog1.74110587
31MP0000569_abnormal_digit_pigmentation1.70926058
32MP0009384_cardiac_valve_regurgitation1.69212915
33MP0002254_reproductive_system_inflammat1.68372164
34MP0003566_abnormal_cell_adhesion1.64803463
35MP0001944_abnormal_pancreas_morphology1.62820678
36MP0005253_abnormal_eye_physiology1.61681560
37MP0002876_abnormal_thyroid_physiology1.60633675
38MP0005508_abnormal_skeleton_morphology1.59572626
39MP0004185_abnormal_adipocyte_glucose1.59179774
40MP0002060_abnormal_skin_morphology1.58668500
41MP0003718_maternal_effect1.55682252
42MP0010352_gastrointestinal_tract_polyps1.54831506
43MP0000427_abnormal_hair_cycle1.54250927
44MP0005408_hypopigmentation1.53559381
45MP0005623_abnormal_meninges_morphology1.52749229
46MP0005375_adipose_tissue_phenotype1.52620313
47MP0002090_abnormal_vision1.51135601
48MP0000647_abnormal_sebaceous_gland1.50719530
49MP0004084_abnormal_cardiac_muscle1.48400222
50MP0004233_abnormal_muscle_weight1.48322820
51MP0005171_absent_coat_pigmentation1.48247881
52MP0000751_myopathy1.45215637
53MP0002108_abnormal_muscle_morphology1.44489452
54MP0003937_abnormal_limbs/digits/tail_de1.43672143
55MP0010094_abnormal_chromosome_stability1.42621535
56MP0010234_abnormal_vibrissa_follicle1.41063444
57MP0003941_abnormal_skin_development1.40699016
58MP0010368_abnormal_lymphatic_system1.39907765
59MP0009697_abnormal_copulation1.39368897
60MP0001299_abnormal_eye_distance/1.37984945
61MP0002295_abnormal_pulmonary_circulatio1.37706719
62MP0003186_abnormal_redox_activity1.35460917
63MP0004130_abnormal_muscle_cell1.33318781
64MP0004215_abnormal_myocardial_fiber1.28735232
65MP0005666_abnormal_adipose_tissue1.28657139
66MP0003195_calcinosis1.28412972
67MP0005023_abnormal_wound_healing1.26151382
68MP0002751_abnormal_autonomic_nervous1.26092689
69MP0002736_abnormal_nociception_after1.22325752
70MP0001984_abnormal_olfaction1.22233219
71MP0000163_abnormal_cartilage_morphology1.22057752
72MP0003959_abnormal_lean_body1.21070190
73MP0005646_abnormal_pituitary_gland1.20787988
74MP0001485_abnormal_pinna_reflex1.20053446
75MP0005076_abnormal_cell_differentiation1.17562340
76MP0003122_maternal_imprinting1.17357037
77MP0005075_abnormal_melanosome_morpholog1.16079294
78MP0010386_abnormal_urinary_bladder1.16006904
79MP0002693_abnormal_pancreas_physiology1.15855265
80MP0000750_abnormal_muscle_regeneration1.15717622
81MP0003890_abnormal_embryonic-extraembry1.13384359
82MP0002234_abnormal_pharynx_morphology1.12197488
83MP0005395_other_phenotype1.11280241
84MP0001529_abnormal_vocalization1.10855539
85MP0000747_muscle_weakness1.10631861
86MP0006036_abnormal_mitochondrial_physio1.09855135
87MP0003300_gastrointestinal_ulcer1.09144803
88MP0001968_abnormal_touch/_nociception1.08331656
89MP0004147_increased_porphyrin_level1.08315781
90MP0001243_abnormal_dermal_layer1.07191947
91MP0002269_muscular_atrophy1.06676089
92MP0005174_abnormal_tail_pigmentation1.06016550
93MP0002233_abnormal_nose_morphology1.04941178
94MP0009250_abnormal_appendicular_skeleto1.04757124
95MP0004133_heterotaxia1.04307504
96MP0001542_abnormal_bone_strength1.04299706
97MP0001879_abnormal_lymphatic_vessel1.03429073
98MP0002115_abnormal_skeleton_extremities1.03190181
99MP0003121_genomic_imprinting1.03049089
100MP0003942_abnormal_urinary_system1.00665194
101MP0003136_yellow_coat_color1.00546997
102MP0005257_abnormal_intraocular_pressure1.00487648
103MP0010030_abnormal_orbit_morphology0.99164283
104MP0005670_abnormal_white_adipose0.99076951
105MP0003011_delayed_dark_adaptation0.99034445
106MP0003755_abnormal_palate_morphology0.98071158
107MP0000428_abnormal_craniofacial_morphol0.98029497
108MP0001764_abnormal_homeostasis0.97233333
109MP0009046_muscle_twitch0.96115575
110MP0003806_abnormal_nucleotide_metabolis0.95935718
111MP0005379_endocrine/exocrine_gland_phen0.95101279
112MP0003787_abnormal_imprinting0.94975043
113MP0000678_abnormal_parathyroid_gland0.94486033
114MP0002078_abnormal_glucose_homeostasis0.93134980
115MP0005332_abnormal_amino_acid0.91910839
116MP0004087_abnormal_muscle_fiber0.91371499
117MP0004036_abnormal_muscle_relaxation0.91330653
118MP0003137_abnormal_impulse_conducting0.91199918
119MP0003091_abnormal_cell_migration0.90799461
120MP0000534_abnormal_ureter_morphology0.90759553
121MP0000759_abnormal_skeletal_muscle0.89625102
122MP0000733_abnormal_muscle_development0.88849136
123MP0005058_abnormal_lysosome_morphology0.88765314
124MP0000015_abnormal_ear_pigmentation0.88570188
125MP0010678_abnormal_skin_adnexa0.88285447
126MP0004134_abnormal_chest_morphology0.88020074
127MP0005390_skeleton_phenotype0.87753430
128MP0008872_abnormal_physiological_respon0.87426658
129MP0008789_abnormal_olfactory_epithelium0.86571617
130MP0008961_abnormal_basal_metabolism0.86508218
131MP0003183_abnormal_peptide_metabolism0.86245814
132MP0008007_abnormal_cellular_replicative0.86005522
133MP0003385_abnormal_body_wall0.85687809
134MP0006035_abnormal_mitochondrial_morpho0.85319001
135MP0003795_abnormal_bone_structure0.85262849
136MP0000538_abnormal_urinary_bladder0.84435177
137MP0005330_cardiomyopathy0.84056388
138MP0000537_abnormal_urethra_morphology0.83947356
139MP0002933_joint_inflammation0.83904263
140MP0002113_abnormal_skeleton_development0.83583075
141MP0000613_abnormal_salivary_gland0.83534593
142MP0001324_abnormal_eye_pigmentation0.83318944
143MP0001929_abnormal_gametogenesis0.82987576
144MP0004085_abnormal_heartbeat0.81050120
145MP0003045_fibrosis0.80547553
146MP0002282_abnormal_trachea_morphology0.80355067
147MP0002160_abnormal_reproductive_system0.79833189
148MP0000749_muscle_degeneration0.79697498
149MP0000631_abnormal_neuroendocrine_gland0.79489196
150MP0005187_abnormal_penis_morphology0.78822541
151MP0003123_paternal_imprinting0.78039299
152MP0002168_other_aberrant_phenotype0.77730265
153MP0001661_extended_life_span0.76877285
154MP0001270_distended_abdomen0.76819235
155MP0000358_abnormal_cell_content/0.75968759
156MP0002638_abnormal_pupillary_reflex0.75449771
157MP0001119_abnormal_female_reproductive0.74989437
158MP0000653_abnormal_sex_gland0.74376532
159MP0008775_abnormal_heart_ventricle0.73833696
160MP0002163_abnormal_gland_morphology0.73753541
161MP0002089_abnormal_postnatal_growth/wei0.73376959
162MP0000462_abnormal_digestive_system0.73242561
163MP0005389_reproductive_system_phenotype0.72311831
164MP0001177_atelectasis0.71653753
165MP0001486_abnormal_startle_reflex0.71552082
166MP0000639_abnormal_adrenal_gland0.71006797
167MP0008932_abnormal_embryonic_tissue0.70790462
168MP0009053_abnormal_anal_canal0.70688144
169MP0001756_abnormal_urination0.68794806
170MP0002932_abnormal_joint_morphology0.68771329
171MP0000767_abnormal_smooth_muscle0.68422755
172MP0001986_abnormal_taste_sensitivity0.67572898
173MP0006138_congestive_heart_failure0.67565118
174MP0005365_abnormal_bile_salt0.67351765
175MP0005084_abnormal_gallbladder_morpholo0.66951778
176MP0005620_abnormal_muscle_contractility0.65296477
177MP0003119_abnormal_digestive_system0.65027797
178MP0005369_muscle_phenotype0.64260071
179MP0004043_abnormal_pH_regulation0.64256893

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)5.83198425
2Premature rupture of membranes (HP:0001788)5.40721149
3Cervical subluxation (HP:0003308)3.80609907
4Ankle contracture (HP:0006466)3.76037576
5Cerebral aneurysm (HP:0004944)3.61983629
6Aortic dissection (HP:0002647)3.32137166
7Intestinal atresia (HP:0011100)3.25739649
8Soft skin (HP:0000977)3.25639700
9Type 1 muscle fiber predominance (HP:0003803)3.24902654
10Hypoglycemic coma (HP:0001325)3.14761689
11Hypothermia (HP:0002045)3.07310777
12Aortic aneurysm (HP:0004942)3.05821857
13Spinal rigidity (HP:0003306)3.04477295
14Hyperinsulinemic hypoglycemia (HP:0000825)3.02648160
15Dilatation of the ascending aorta (HP:0005111)3.00731270
16Atrophic scars (HP:0001075)3.00471564
17Pancreatic cysts (HP:0001737)3.00453848
18Broad metatarsal (HP:0001783)2.97726749
19Shallow orbits (HP:0000586)2.94879647
20Progressive macrocephaly (HP:0004481)2.94609606
21Methylmalonic acidemia (HP:0002912)2.91455087
22Hyperglycemia (HP:0003074)2.89787476
23Bladder diverticulum (HP:0000015)2.88911982
24Acute necrotizing encephalopathy (HP:0006965)2.84669253
25Pancreatic fibrosis (HP:0100732)2.81645115
26Hypoglycemic seizures (HP:0002173)2.80863882
27Insulin-resistant diabetes mellitus (HP:0000831)2.71624536
28Abnormality of dentin (HP:0010299)2.70762135
29Acute encephalopathy (HP:0006846)2.68978608
30True hermaphroditism (HP:0010459)2.68770048
31Vertebral compression fractures (HP:0002953)2.66052782
32Increased connective tissue (HP:0009025)2.65063749
33Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.61157789
34Mildly elevated creatine phosphokinase (HP:0008180)2.60179416
35Blue sclerae (HP:0000592)2.57125401
36Ependymoma (HP:0002888)2.54656242
37Follicular hyperkeratosis (HP:0007502)2.52602836
38Increased CSF lactate (HP:0002490)2.49511831
39Aplasia/Hypoplasia of the fovea (HP:0008060)2.48588832
40Hypoplasia of the fovea (HP:0007750)2.48588832
41Aneurysm (HP:0002617)2.48434544
42Volvulus (HP:0002580)2.48315449
43Medial flaring of the eyebrow (HP:0010747)2.47069729
44Peritonitis (HP:0002586)2.46543669
45Wormian bones (HP:0002645)2.45821412
46Ketoacidosis (HP:0001993)2.44552204
47Delayed gross motor development (HP:0002194)2.43412073
48Neonatal short-limb short stature (HP:0008921)2.42793810
49Mitral valve prolapse (HP:0001634)2.42293323
50Abnormality of midbrain morphology (HP:0002418)2.41775851
51Molar tooth sign on MRI (HP:0002419)2.41775851
52Long toe (HP:0010511)2.37896240
53Methylmalonic aciduria (HP:0012120)2.37815231
54Thoracolumbar scoliosis (HP:0002944)2.37033772
55Abnormality of endocrine pancreas physiology (HP:0012093)2.36626288
56Abnormality of the pancreatic islet cells (HP:0006476)2.36626288
57Fragile skin (HP:0001030)2.32746830
58Aplasia/Hypoplasia of the tongue (HP:0010295)2.31379991
59Abnormal mitochondria in muscle tissue (HP:0008316)2.31125349
60Increased variability in muscle fiber diameter (HP:0003557)2.30951634
61Abnormality of the ileum (HP:0001549)2.30820923
62Genu recurvatum (HP:0002816)2.30629854
63Popliteal pterygium (HP:0009756)2.29923245
64Abnormality of the intrinsic pathway (HP:0010989)2.29554097
65Hypoplastic ischia (HP:0003175)2.28967681
66Wrist flexion contracture (HP:0001239)2.26753795
67Round ear (HP:0100830)2.26692593
68Joint stiffness (HP:0001387)2.25444599
69Difficulty climbing stairs (HP:0003551)2.25312961
70Mitochondrial inheritance (HP:0001427)2.24472662
71Platyspondyly (HP:0000926)2.24361137
72Aplasia/Hypoplasia of the uvula (HP:0010293)2.24273576
73Pancreatic islet-cell hyperplasia (HP:0004510)2.22368805
74Neoplasm of the adrenal gland (HP:0100631)2.21602242
75Osteoarthritis (HP:0002758)2.20251998
76Hyperextensible skin (HP:0000974)2.19782902
77Abnormality of the fovea (HP:0000493)2.19582157
78Gaze-evoked nystagmus (HP:0000640)2.15921025
79Disproportionate short-trunk short stature (HP:0003521)2.15566852
80Breast carcinoma (HP:0003002)2.15203495
81Urinary glycosaminoglycan excretion (HP:0003541)2.13813012
82Mucopolysacchariduria (HP:0008155)2.13813012
83Congenital stationary night blindness (HP:0007642)2.13589589
84Neoplasm of the adrenal cortex (HP:0100641)2.13345546
85Nephronophthisis (HP:0000090)2.13303451
86Abnormality of the astrocytes (HP:0100707)2.12803417
87Astrocytoma (HP:0009592)2.12803417
88Biconcave vertebral bodies (HP:0004586)2.12541762
89Abnormality of the labia minora (HP:0012880)2.12342483
90Meckel diverticulum (HP:0002245)2.11401942
91Symptomatic seizures (HP:0011145)2.11154188
92Mitral stenosis (HP:0001718)2.10010284
93Insulin resistance (HP:0000855)2.09861390
94Type 2 muscle fiber atrophy (HP:0003554)2.09477126
95Glioma (HP:0009733)2.09004966
96Abnormality of chromosome stability (HP:0003220)2.08756165
97Keratoconus (HP:0000563)2.06572057
98Increased corneal curvature (HP:0100692)2.06572057
99Abnormality of the ischium (HP:0003174)2.06422548
100Abnormality of aspartate family amino acid metabolism (HP:0010899)2.06268478
101Bowel diverticulosis (HP:0005222)2.05687363
102Hamartoma of the eye (HP:0010568)2.05669736
103Abnormality of skeletal muscle fiber size (HP:0012084)2.05214275
104Limb-girdle muscle atrophy (HP:0003797)2.04907289
105Beaking of vertebral bodies (HP:0004568)2.04278682
106Abnormality of vitamin B metabolism (HP:0004340)2.03096297
107Dysostosis multiplex (HP:0000943)2.02979596
108Thin bony cortex (HP:0002753)2.02975355
109Abnormality of methionine metabolism (HP:0010901)2.02138489
110Hand muscle atrophy (HP:0009130)2.02103840
111Progressive inability to walk (HP:0002505)2.01589925
112Scapular winging (HP:0003691)2.00881632
113Thyroiditis (HP:0100646)2.00274769
114Bifid tongue (HP:0010297)2.00029406
115Epiphyseal dysplasia (HP:0002656)1.99756525
116Striae distensae (HP:0001065)1.99393421
117Congenital glaucoma (HP:0001087)1.97264599
118Abnormality of placental membranes (HP:0011409)1.97211261
119Amniotic constriction ring (HP:0009775)1.97211261
120Cupped ribs (HP:0000887)1.96451624
121Large for gestational age (HP:0001520)1.96293689
122Abnormal cartilage morphology (HP:0002763)1.95678671
123Aplasia/Hypoplasia of the tibia (HP:0005772)1.95654241
124Abnormality of the renal cortex (HP:0011035)1.94924908
125Abnormality of the calcaneus (HP:0008364)1.94116145
126Hepatic necrosis (HP:0002605)1.93384966
127Hepatocellular necrosis (HP:0001404)1.92911011
128Overgrowth (HP:0001548)1.92392545
129Elbow flexion contracture (HP:0002987)1.92133126
130Abnormality of macular pigmentation (HP:0008002)1.91831501
131Osteopenia (HP:0000938)1.91395416
132Limb-girdle muscle weakness (HP:0003325)1.91220358
133Exostoses (HP:0100777)1.90947078
134Myoglobinuria (HP:0002913)1.90507952
135Abnormality of the acetabulum (HP:0003170)1.90436315
136Tubular atrophy (HP:0000092)1.90119489
137Tongue fasciculations (HP:0001308)1.89765642
138Hypoproteinemia (HP:0003075)1.87493058
139Small hand (HP:0200055)1.87091530
140Nonimmune hydrops fetalis (HP:0001790)1.86569366
141Short tibia (HP:0005736)1.86049420
142Vascular tortuosity (HP:0004948)1.85982525
143Type II lissencephaly (HP:0007260)1.84187575
144Protuberant abdomen (HP:0001538)1.83600742
145Abnormality of the renal medulla (HP:0100957)1.83554950
146Cerebral edema (HP:0002181)1.83501056
147Aqueductal stenosis (HP:0002410)1.82352557
148Supernumerary spleens (HP:0009799)1.82312178
149Genital tract atresia (HP:0001827)1.81998353
150Metaphyseal dysplasia (HP:0100255)1.81780069
151Severe short stature (HP:0003510)1.81378002
152Distal upper limb amyotrophy (HP:0007149)1.81360404
153Upper limb amyotrophy (HP:0009129)1.81360404
154Enlarged penis (HP:0000040)1.81240245
155Joint laxity (HP:0001388)1.81083975
156Congenital primary aphakia (HP:0007707)1.80919175
1573-Methylglutaconic aciduria (HP:0003535)1.80879116
158Hypercortisolism (HP:0001578)1.79748268
159Ovoid vertebral bodies (HP:0003300)1.79421933
160Abnormality of the vitamin B12 metabolism (HP:0004341)1.79391248
161Broad ribs (HP:0000885)1.79043378
162Spinal cord compression (HP:0002176)1.77907348
163Ectopia lentis (HP:0001083)1.77527210
164Abnormality of polysaccharide metabolism (HP:0011012)1.77526738
165Abnormality of glycosaminoglycan metabolism (HP:0004371)1.77526738
166Abnormality of mucopolysaccharide metabolism (HP:0011020)1.77526738
167Aplasia/Hypoplasia involving the musculature (HP:0001460)1.77317121
168Dandy-Walker malformation (HP:0001305)1.76588696
169Ulnar bowing (HP:0003031)1.76306573
170Albinism (HP:0001022)1.75802010
171Spondylolisthesis (HP:0003302)1.73962524
172Skin nodule (HP:0200036)1.73020564
173Renal cortical cysts (HP:0000803)1.72899306
174Radial bowing (HP:0002986)1.72815490
175Growth hormone excess (HP:0000845)1.72421402
176Abnormal protein glycosylation (HP:0012346)1.70319323
177Abnormal glycosylation (HP:0012345)1.70319323
178Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.70319323
179Abnormal protein N-linked glycosylation (HP:0012347)1.70319323
180Furrowed tongue (HP:0000221)1.70029978
181Gastrointestinal atresia (HP:0002589)1.69284529
182Increased serum lactate (HP:0002151)1.68862549
183Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.68807893
184Increased serum pyruvate (HP:0003542)1.68121155
185Gait imbalance (HP:0002141)1.68040947
186Patchy hypopigmentation of hair (HP:0011365)1.67862906
187Type I transferrin isoform profile (HP:0003642)1.67356904
188Vaginal atresia (HP:0000148)1.67139686
189Abnormality of glycolysis (HP:0004366)1.67082681
190Prominent metopic ridge (HP:0005487)1.66920707
191Hypoplastic pelvis (HP:0008839)1.66871595
192Hyperglycinemia (HP:0002154)1.65367909

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.73297031
2DDR23.72486818
3TRIM283.62152584
4INSRR3.16730427
5PDGFRA3.14214758
6ERN12.98449826
7MST42.87054845
8WNK32.84706251
9PASK2.84529898
10TTN2.71366189
11BMPR1B2.62869241
12SCYL22.55089546
13PKN22.49719346
14MKNK22.47173063
15PLK22.38259299
16NUAK12.36221252
17MAPK152.30383311
18SIK12.26863136
19FRK2.26473628
20EIF2AK12.23352339
21LATS12.09425920
22BCKDK2.02497379
23FLT32.02339005
24MAP4K22.00234553
25PLK31.98688194
26TNIK1.96681939
27BCR1.94539627
28ADRBK21.88191345
29EPHA31.85983593
30MAP3K121.75572023
31RIPK11.71998758
32BUB11.69342832
33MAP3K31.65860866
34PTK61.65032601
35GRK11.61418860
36MKNK11.59094367
37FER1.54515217
38MAP3K21.53472047
39TESK11.53111718
40PTK21.52079227
41ZAK1.51706525
42WEE11.47366056
43STK391.47004482
44PINK11.43013338
45SIK31.42721863
46RPS6KA41.31541928
47MET1.30391060
48PAK31.29480451
49OXSR11.29052827
50PBK1.27237784
51PLK41.23511326
52PAK21.20940104
53BRSK21.19982290
54CASK1.19348501
55CSNK1G11.17906833
56FGFR41.17421098
57TSSK61.17042764
58LRRK21.16335627
59PRKD31.15696244
60TGFBR11.15679356
61PDK41.14970099
62PDK31.14970099
63PIK3CG1.13310223
64MUSK1.08296367
65STK161.06559938
66DYRK1B1.01997714
67KDR1.01013565
68PRKCE0.99250772
69PDGFRB0.99248754
70MAP3K100.99091218
71NTRK10.98685048
72TGFBR20.98292747
73CSNK1G20.97366640
74CSNK1G30.96905866
75MAPK130.95174244
76MAP2K10.93611305
77CAMKK20.93381350
78LATS20.91694983
79LIMK10.91438215
80MAP3K40.90878811
81ILK0.89414560
82SRPK10.88108014
83NEK90.88060399
84NEK10.87598561
85VRK20.84769629
86EIF2AK30.84111391
87PLK10.83547036
88FGFR10.83151239
89HIPK20.82505715
90CSNK1A1L0.82136230
91AKT30.81506590
92RET0.80269025
93TIE10.80217541
94PAK40.78933379
95EIF2AK20.77971176
96VRK10.77802959
97CCNB10.77466271
98MAP2K30.77442723
99ADRBK10.74421719
100TTK0.74018239
101PNCK0.73026164
102ERBB30.71424794
103TAF10.71316955
104MTOR0.70508171
105DMPK0.66217437
106EPHB20.65677982
107BRSK10.65069340
108STK38L0.63484760
109KSR20.62813549
110MINK10.62498715
111JAK10.62478639
112PRKCG0.61269346
113PRKCI0.60751315
114PRKCH0.60584761
115NME20.60226207
116PDK20.57753271
117MAP3K10.57557082
118PRKD10.53798794
119FGFR30.53164520
120ERBB40.52951328
121STK100.52662355
122GSK3A0.52357225
123CAMK1D0.51776203
124CDC42BPA0.51707981
125MYLK0.50887106
126EPHA40.50611033
127TRPM70.50029216
128FGFR20.49035279
129MAP2K70.48822673
130EPHA20.48643411
131UHMK10.48397223
132MAPKAPK30.48137467
133ACVR1B0.47250229
134ROCK10.47179851
135PIK3CA0.46447569
136MAP3K110.46338142
137MAP2K20.45348157
138TAOK10.44696580
139NLK0.44382575
140STK30.42919470
141EEF2K0.42100862
142CDK60.41315569
143LMTK20.39914972
144EPHB10.39823552
145ZAP700.39290334
146INSR0.39123501
147IRAK10.38663000
148ATM0.38170925
149PTK2B0.38119314
150ABL10.37215925
151JAK30.36910404
152GRK50.35403295
153IGF1R0.35272092
154PRKAA10.34645498
155STK240.34572322
156CAMK2A0.34539417
157BMX0.34493627
158TAOK30.32430326
159JAK20.32032187
160DAPK10.31590583
161CSNK1A10.31344356
162CAMK2D0.31121042
163CAMKK10.30470072
164WNK40.29661652
165PHKG10.28490514
166PHKG20.28490514
167CDC70.28051869
168CSNK2A10.27773794
169ROCK20.25798247
170EGFR0.24969517
171ATR0.24164881
172GRK70.23465566
173OBSCN0.22997103

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049504.54381992
2* Protein processing in endoplasmic reticulum_Homo sapiens_hsa041414.10652248
3Protein export_Homo sapiens_hsa030604.01724910
4Proteasome_Homo sapiens_hsa030503.69298567
5Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.28043259
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.96526408
7ECM-receptor interaction_Homo sapiens_hsa045122.65002911
8Non-homologous end-joining_Homo sapiens_hsa034502.47516466
9Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.33528301
10Protein digestion and absorption_Homo sapiens_hsa049742.30913018
11N-Glycan biosynthesis_Homo sapiens_hsa005102.19405255
12Focal adhesion_Homo sapiens_hsa045102.08863749
13Basal transcription factors_Homo sapiens_hsa030221.96685135
14Fatty acid elongation_Homo sapiens_hsa000621.96266766
15Fanconi anemia pathway_Homo sapiens_hsa034601.93919342
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.91894967
17Homologous recombination_Homo sapiens_hsa034401.91159330
18Sulfur metabolism_Homo sapiens_hsa009201.81358692
19Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.80809351
20Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.77625683
21Steroid biosynthesis_Homo sapiens_hsa001001.75996273
22Oxidative phosphorylation_Homo sapiens_hsa001901.71145637
23RNA polymerase_Homo sapiens_hsa030201.66561487
24Phototransduction_Homo sapiens_hsa047441.65422737
25RNA degradation_Homo sapiens_hsa030181.53513130
26Selenocompound metabolism_Homo sapiens_hsa004501.53164771
27Lysosome_Homo sapiens_hsa041421.47975069
28Vibrio cholerae infection_Homo sapiens_hsa051101.46743584
29Bladder cancer_Homo sapiens_hsa052191.44954353
30Proteoglycans in cancer_Homo sapiens_hsa052051.43498257
31Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.42697358
32Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.42428029
33Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.41482139
34Mismatch repair_Homo sapiens_hsa034301.39373946
35Insulin resistance_Homo sapiens_hsa049311.38387882
36Vitamin B6 metabolism_Homo sapiens_hsa007501.37693970
372-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.37648287
38Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.36362907
39Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.36054177
40Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.34972680
41Dilated cardiomyopathy_Homo sapiens_hsa054141.33591382
42Parkinsons disease_Homo sapiens_hsa050121.32305933
43Adherens junction_Homo sapiens_hsa045201.27621593
44Nitrogen metabolism_Homo sapiens_hsa009101.27072608
45Insulin secretion_Homo sapiens_hsa049111.26897174
46Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.26868876
47Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.25343376
48Peroxisome_Homo sapiens_hsa041461.23067268
49Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.20865952
50AMPK signaling pathway_Homo sapiens_hsa041521.19264510
51mTOR signaling pathway_Homo sapiens_hsa041501.17760908
52Fatty acid metabolism_Homo sapiens_hsa012121.15433946
53Type II diabetes mellitus_Homo sapiens_hsa049301.14781775
54One carbon pool by folate_Homo sapiens_hsa006701.13321756
55Cysteine and methionine metabolism_Homo sapiens_hsa002701.13002690
56Fatty acid degradation_Homo sapiens_hsa000711.09306107
57Primary bile acid biosynthesis_Homo sapiens_hsa001201.09140769
58Collecting duct acid secretion_Homo sapiens_hsa049661.08332851
59RNA transport_Homo sapiens_hsa030131.07454522
60Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.07285399
61Hippo signaling pathway_Homo sapiens_hsa043901.04622314
62Glutathione metabolism_Homo sapiens_hsa004801.04518845
63Insulin signaling pathway_Homo sapiens_hsa049101.03236511
64Glucagon signaling pathway_Homo sapiens_hsa049221.01882747
65Amoebiasis_Homo sapiens_hsa051461.00481637
66Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.98256834
67Adipocytokine signaling pathway_Homo sapiens_hsa049200.97994339
68AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.97578524
69Fat digestion and absorption_Homo sapiens_hsa049750.97350677
70Nucleotide excision repair_Homo sapiens_hsa034200.97078292
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.96372459
72Thyroid hormone synthesis_Homo sapiens_hsa049180.95160673
73PI3K-Akt signaling pathway_Homo sapiens_hsa041510.95145629
74Central carbon metabolism in cancer_Homo sapiens_hsa052300.93891870
75Propanoate metabolism_Homo sapiens_hsa006400.92534213
76Longevity regulating pathway - mammal_Homo sapiens_hsa042110.92373500
77Small cell lung cancer_Homo sapiens_hsa052220.91887685
78Regulation of autophagy_Homo sapiens_hsa041400.91212823
79Caffeine metabolism_Homo sapiens_hsa002320.91124285
80TGF-beta signaling pathway_Homo sapiens_hsa043500.90443508
81Glycosaminoglycan degradation_Homo sapiens_hsa005310.90393258
82SNARE interactions in vesicular transport_Homo sapiens_hsa041300.89798227
83Sphingolipid metabolism_Homo sapiens_hsa006000.89169943
84Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.88844149
85Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.88839102
86Pancreatic secretion_Homo sapiens_hsa049720.88770913
87Prion diseases_Homo sapiens_hsa050200.88286429
88Chronic myeloid leukemia_Homo sapiens_hsa052200.86983508
89Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.85112234
90Renin-angiotensin system_Homo sapiens_hsa046140.83719180
91Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83682673
92Purine metabolism_Homo sapiens_hsa002300.83131128
93Galactose metabolism_Homo sapiens_hsa000520.82539173
94Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.82533598
95Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.80036134
96Hedgehog signaling pathway_Homo sapiens_hsa043400.79863327
97beta-Alanine metabolism_Homo sapiens_hsa004100.79509875
98Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.78376583
99Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.78313503
100Huntingtons disease_Homo sapiens_hsa050160.77498483
101Pentose and glucuronate interconversions_Homo sapiens_hsa000400.76582304
102Carbon metabolism_Homo sapiens_hsa012000.76315151
103Metabolic pathways_Homo sapiens_hsa011000.75801628
104Viral myocarditis_Homo sapiens_hsa054160.74765193
105Circadian rhythm_Homo sapiens_hsa047100.74758069
106Oocyte meiosis_Homo sapiens_hsa041140.74316309
107Pyrimidine metabolism_Homo sapiens_hsa002400.73204201
108Prostate cancer_Homo sapiens_hsa052150.72485440
109Butanoate metabolism_Homo sapiens_hsa006500.71599709
110Thyroid cancer_Homo sapiens_hsa052160.71570125
111Alzheimers disease_Homo sapiens_hsa050100.71540542
112Ether lipid metabolism_Homo sapiens_hsa005650.69954399
113Starch and sucrose metabolism_Homo sapiens_hsa005000.69323692
114Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67833578
115Retinol metabolism_Homo sapiens_hsa008300.65460517
116Estrogen signaling pathway_Homo sapiens_hsa049150.65325153
117Linoleic acid metabolism_Homo sapiens_hsa005910.64814050
118Chemical carcinogenesis_Homo sapiens_hsa052040.64411584
119Carbohydrate digestion and absorption_Homo sapiens_hsa049730.64236231
120Tryptophan metabolism_Homo sapiens_hsa003800.62386828
121Pancreatic cancer_Homo sapiens_hsa052120.60999764
122alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.60821653
123Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.60485872
124Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.60433574
125Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.60134930
126Pyruvate metabolism_Homo sapiens_hsa006200.59951702
127Steroid hormone biosynthesis_Homo sapiens_hsa001400.59544231
128Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.56760723
129Tight junction_Homo sapiens_hsa045300.56724543
130Type I diabetes mellitus_Homo sapiens_hsa049400.56662083
131Endometrial cancer_Homo sapiens_hsa052130.55766979
132Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.55540921
133Renal cell carcinoma_Homo sapiens_hsa052110.55507676
134Cell cycle_Homo sapiens_hsa041100.55436540
135Prolactin signaling pathway_Homo sapiens_hsa049170.54389614
136Arginine and proline metabolism_Homo sapiens_hsa003300.54368712
137Basal cell carcinoma_Homo sapiens_hsa052170.52649502
138Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.51649078
139Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51308194
140DNA replication_Homo sapiens_hsa030300.50960058
141Glioma_Homo sapiens_hsa052140.48855690
142Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.47655886
143Phagosome_Homo sapiens_hsa041450.47617708
144HIF-1 signaling pathway_Homo sapiens_hsa040660.47129464
145cGMP-PKG signaling pathway_Homo sapiens_hsa040220.46231518
146Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.46121012
147PPAR signaling pathway_Homo sapiens_hsa033200.44953445
148Shigellosis_Homo sapiens_hsa051310.44760013
149Folate biosynthesis_Homo sapiens_hsa007900.43927922
150MicroRNAs in cancer_Homo sapiens_hsa052060.43762964
151Colorectal cancer_Homo sapiens_hsa052100.43273423
152Biosynthesis of amino acids_Homo sapiens_hsa012300.42032275
153Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.41782981
154Endocytosis_Homo sapiens_hsa041440.41735106
155Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.41596993
156Neurotrophin signaling pathway_Homo sapiens_hsa047220.41411264
157Mineral absorption_Homo sapiens_hsa049780.41381700
158Base excision repair_Homo sapiens_hsa034100.41266532
159Vascular smooth muscle contraction_Homo sapiens_hsa042700.39842636
160VEGF signaling pathway_Homo sapiens_hsa043700.39045310
161Viral carcinogenesis_Homo sapiens_hsa052030.38618359
162Platelet activation_Homo sapiens_hsa046110.38235483
163Cocaine addiction_Homo sapiens_hsa050300.37977359
164p53 signaling pathway_Homo sapiens_hsa041150.37258032
165FoxO signaling pathway_Homo sapiens_hsa040680.36766213
166Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.35926008
167Leukocyte transendothelial migration_Homo sapiens_hsa046700.35711684
168Olfactory transduction_Homo sapiens_hsa047400.33488918
169Glycerolipid metabolism_Homo sapiens_hsa005610.33171299
170Wnt signaling pathway_Homo sapiens_hsa043100.30474051

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