ADAM7

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 member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1male meiosis (GO:0007140)9.49594132
2positive regulation of tolerance induction (GO:0002645)9.00209217
3acrosome reaction (GO:0007340)8.97127570
4spermatid development (GO:0007286)8.29013417
5kynurenine metabolic process (GO:0070189)8.17988617
6sperm motility (GO:0030317)8.01252936
7regulation of tolerance induction (GO:0002643)7.82294898
8sperm capacitation (GO:0048240)7.69457232
9regulation of oxidative stress-induced neuron death (GO:1903203)7.55024009
10multicellular organism reproduction (GO:0032504)7.47860140
11binding of sperm to zona pellucida (GO:0007339)7.37454367
12fusion of sperm to egg plasma membrane (GO:0007342)7.10867103
13motile cilium assembly (GO:0044458)6.83724801
14relaxation of smooth muscle (GO:0044557)6.82547778
15nucleosome disassembly (GO:0006337)6.77003963
16protein-DNA complex disassembly (GO:0032986)6.77003963
17regulation of acrosome reaction (GO:0060046)6.69473827
18regulation of chronic inflammatory response (GO:0002676)6.53357822
19regulation of oxidative phosphorylation (GO:0002082)6.51646241
20indole-containing compound catabolic process (GO:0042436)6.46026835
21indolalkylamine catabolic process (GO:0046218)6.46026835
22tryptophan catabolic process (GO:0006569)6.46026835
23regulation of clathrin-mediated endocytosis (GO:2000369)6.38790498
24axonemal dynein complex assembly (GO:0070286)6.38293210
25polyamine biosynthetic process (GO:0006596)6.30020301
26potassium ion export (GO:0071435)6.23636941
27cilium or flagellum-dependent cell motility (GO:0001539)6.14863971
28positive regulation of antigen processing and presentation (GO:0002579)6.07955301
29sperm-egg recognition (GO:0035036)6.01490496
30organic cation transport (GO:0015695)5.98867256
31single fertilization (GO:0007338)5.84575172
32Leydig cell differentiation (GO:0033327)5.66592944
33activation of protein kinase B activity (GO:0032148)5.64024366
34heterotypic cell-cell adhesion (GO:0034113)5.61541832
35negative regulation of hydrogen peroxide-induced cell death (GO:1903206)5.59390786
36tryptophan metabolic process (GO:0006568)5.57740675
37cGMP-mediated signaling (GO:0019934)5.53588479
38epithelial cilium movement (GO:0003351)5.51766950
39synapsis (GO:0007129)5.46715926
40negative regulation of interleukin-10 production (GO:0032693)5.44500303
41plasma membrane fusion (GO:0045026)5.43535718
42positive regulation of type 2 immune response (GO:0002830)5.38730753
43cell-cell recognition (GO:0009988)5.27919548
44male sex determination (GO:0030238)5.25640457
45reproduction (GO:0000003)5.18195346
46regulation of hydrogen peroxide-induced cell death (GO:1903205)5.13841972
47negative regulation of response to reactive oxygen species (GO:1901032)5.09429832
48regulation of dopamine secretion (GO:0014059)5.07340970
49protein polymerization (GO:0051258)4.97103404
50complement activation, alternative pathway (GO:0006957)4.87456439
51androgen biosynthetic process (GO:0006702)4.85763943
52regulation of antigen processing and presentation (GO:0002577)4.83414469
53glutamine family amino acid catabolic process (GO:0009065)4.81275822
54germ cell development (GO:0007281)4.78625996
55TOR signaling (GO:0031929)4.65398437
56regulation of autophagic vacuole assembly (GO:2000785)4.64982290
57positive regulation of glycolytic process (GO:0045821)4.64386196
58coenzyme catabolic process (GO:0009109)4.62863691
59cilium movement (GO:0003341)4.54803210
60cellular biogenic amine biosynthetic process (GO:0042401)4.50317842
61aromatic amino acid family catabolic process (GO:0009074)4.48814484
62mitochondrion degradation (GO:0000422)4.45163471
63regulation of synaptic transmission, dopaminergic (GO:0032225)4.45069820
64amine biosynthetic process (GO:0009309)4.43271737
65regulation of cellular respiration (GO:0043457)4.39727456
66glycogen metabolic process (GO:0005977)4.39399996
67ventricular system development (GO:0021591)4.35562393
68glucan metabolic process (GO:0044042)4.35181173
69cellular glucan metabolic process (GO:0006073)4.35181173
70acrosome assembly (GO:0001675)4.30458411
71sulfur amino acid catabolic process (GO:0000098)4.28449102
72aspartate family amino acid catabolic process (GO:0009068)4.27304469
73negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.27160745
74negative regulation of endopeptidase activity (GO:0010951)4.22901580
75calcium ion-dependent exocytosis (GO:0017156)4.21899044
76positive regulation of amine transport (GO:0051954)4.13583373
77response to acidic pH (GO:0010447)4.12064571
78cellular biogenic amine catabolic process (GO:0042402)4.12045085
79amine catabolic process (GO:0009310)4.12045085
80negative regulation of receptor-mediated endocytosis (GO:0048261)4.11075642
81tongue development (GO:0043586)4.10018902
82negative regulation of peptidase activity (GO:0010466)4.04947581
83indolalkylamine metabolic process (GO:0006586)4.04462638
84histone exchange (GO:0043486)4.01253544
85benzene-containing compound metabolic process (GO:0042537)3.99749562
86oogenesis (GO:0048477)3.98145956
87polyamine metabolic process (GO:0006595)3.97937919
88membrane repolarization during action potential (GO:0086011)3.94066061
89fertilization (GO:0009566)3.91429942
90regulation of vacuole organization (GO:0044088)3.89883407
91regulation of phosphatase activity (GO:0010921)3.85213185
92cellular response to toxic substance (GO:0097237)3.82678120
93DNA double-strand break processing (GO:0000729)3.81781520
94dicarboxylic acid biosynthetic process (GO:0043650)3.81156664
95cellular process involved in reproduction in multicellular organism (GO:0022412)3.79612649
96chromosome organization involved in meiosis (GO:0070192)3.71996135
97negative regulation of JNK cascade (GO:0046329)3.70908145
98pyrimidine ribonucleoside catabolic process (GO:0046133)3.56413674
99regulation of synaptic vesicle transport (GO:1902803)3.56098127
100fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.55683888
101alpha-linolenic acid metabolic process (GO:0036109)3.53319728
102phosphatidylethanolamine biosynthetic process (GO:0006646)3.52428703
103meiotic nuclear division (GO:0007126)3.50651696
104diacylglycerol metabolic process (GO:0046339)3.50163616
105negative regulation of smooth muscle contraction (GO:0045986)3.48557256
106negative regulation of inclusion body assembly (GO:0090084)3.46241693
107oligosaccharide biosynthetic process (GO:0009312)3.44233972
108negative regulation of interleukin-8 production (GO:0032717)3.41513179
109piRNA metabolic process (GO:0034587)3.39873327
110negative regulation of protein autophosphorylation (GO:0031953)3.39756766
111membrane repolarization (GO:0086009)3.39577337
112reverse cholesterol transport (GO:0043691)3.37856592
113epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.34555477
114aromatic amino acid family metabolic process (GO:0009072)3.34353254
115phospholipid homeostasis (GO:0055091)3.32399028
116negative regulation of T cell apoptotic process (GO:0070233)3.29683843
117phosphatidylethanolamine metabolic process (GO:0046337)3.26824701
118negative regulation of stress-activated protein kinase signaling cascade (GO:0070303)3.26192174
119negative regulation of stress-activated MAPK cascade (GO:0032873)3.26192174
120histone H3-K9 demethylation (GO:0033169)3.25643603
121dicarboxylic acid catabolic process (GO:0043649)3.23342879
122negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)3.22380849
123macroautophagy (GO:0016236)3.12971151
124epithelial cell morphogenesis (GO:0003382)3.11101592
125response to misfolded protein (GO:0051788)3.07426010
126regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.07275610
127detection of chemical stimulus involved in sensory perception of smell (GO:0050911)3.07058123
128potassium ion import (GO:0010107)3.06805434
129DNA methylation involved in gamete generation (GO:0043046)3.06609403
130cellular polysaccharide metabolic process (GO:0044264)3.04724547
131negative regulation of reactive oxygen species metabolic process (GO:2000378)3.04172734
132negative regulation of microtubule polymerization (GO:0031115)3.02976926
133cysteine metabolic process (GO:0006534)3.02385388
134digestion (GO:0007586)2.99547329
135indole-containing compound metabolic process (GO:0042430)2.97690174
136valine metabolic process (GO:0006573)2.97607872
137regulation of lipoprotein metabolic process (GO:0050746)2.95808969
138cellular sodium ion homeostasis (GO:0006883)2.95783896
139eye photoreceptor cell differentiation (GO:0001754)2.92562335
140photoreceptor cell differentiation (GO:0046530)2.92562335
141positive regulation of cell-cell adhesion (GO:0022409)2.83231988
142regulation of complement activation (GO:0030449)2.80334185
143negative regulation of proteolysis (GO:0045861)2.78472013
144regulation of epithelial cell differentiation involved in kidney development (GO:2000696)2.77837885
145regulation of type 2 immune response (GO:0002828)2.75337341
146transepithelial transport (GO:0070633)2.73768232
147regulation of nephron tubule epithelial cell differentiation (GO:0072182)2.73217310
148regulation of protein activation cascade (GO:2000257)2.72493132
149regulation of calcium ion-dependent exocytosis (GO:0017158)2.72388058
150cytolysis (GO:0019835)2.71848297
151high-density lipoprotein particle remodeling (GO:0034375)2.69321115
152epithelial cell differentiation involved in kidney development (GO:0035850)2.69274515
153negative regulation of protein processing (GO:0010955)2.68446749
154negative regulation of protein maturation (GO:1903318)2.68446749
155low-density lipoprotein particle clearance (GO:0034383)2.62930557
156defense response to bacterium (GO:0042742)2.58589160
157ethanol oxidation (GO:0006069)2.50744934
158negative regulation of glycogen biosynthetic process (GO:0045719)2.50702958
159regulation of Cdc42 GTPase activity (GO:0043088)2.47138591
160negative regulation of hydrolase activity (GO:0051346)2.45539581
161triglyceride catabolic process (GO:0019433)2.43509795
162positive regulation of cholesterol transport (GO:0032376)2.37460707
163positive regulation of sterol transport (GO:0032373)2.37460707
164response to nitrosative stress (GO:0051409)2.34587987
165linoleic acid metabolic process (GO:0043651)2.33781419
166acylglycerol catabolic process (GO:0046464)2.32901584
167neutral lipid catabolic process (GO:0046461)2.32901584
168complement activation, classical pathway (GO:0006958)2.25807987
169N-acetylneuraminate metabolic process (GO:0006054)2.25417861
170regulation of endopeptidase activity (GO:0052548)2.22912932
171Golgi transport vesicle coating (GO:0048200)2.22443526
172COPI coating of Golgi vesicle (GO:0048205)2.22443526
173response to bacterium (GO:0009617)2.22161144
174negative regulation of glycogen metabolic process (GO:0070874)2.22104265
175O-glycan processing (GO:0016266)2.21994747
176cellular anion homeostasis (GO:0030002)2.21665076
177collecting duct development (GO:0072044)2.20497008
178sialylation (GO:0097503)2.18115781
179negative regulation of lipase activity (GO:0060192)2.15484604
180plasma lipoprotein particle remodeling (GO:0034369)2.15404345
181protein-lipid complex remodeling (GO:0034368)2.15404345
182macromolecular complex remodeling (GO:0034367)2.15404345
183seminiferous tubule development (GO:0072520)17.0471275
184antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)14.1565577
185antigen processing and presentation of endogenous peptide antigen (GO:0002483)14.1565577
186antigen processing and presentation via MHC class Ib (GO:0002475)13.4588397
187regulation of antigen processing and presentation of peptide antigen (GO:0002583)12.4603721
188antigen processing and presentation of endogenous antigen (GO:0019883)11.7603892
189positive regulation of synaptic transmission, dopaminergic (GO:0032226)11.1116592
190regulation of T cell tolerance induction (GO:0002664)10.5309435
191regulation of phosphoprotein phosphatase activity (GO:0043666)10.5281932
192production of molecular mediator involved in inflammatory response (GO:0002532)10.3143019
193positive regulation of catecholamine secretion (GO:0033605)10.0008570

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse9.10404149
2BP1_19119308_ChIP-ChIP_Hs578T_Human8.37738371
3GATA1_22025678_ChIP-Seq_K562_Human8.29193772
4MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human3.94947917
5ESR1_20079471_ChIP-ChIP_T-47D_Human3.63795470
6AR_21572438_ChIP-Seq_LNCaP_Human3.52146136
7EZH2_22144423_ChIP-Seq_EOC_Human3.32132199
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.28573393
9TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.94893988
10CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.93572901
11VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human2.84088104
12IKZF1_21737484_ChIP-ChIP_HCT116_Human2.81651192
13ESR1_21235772_ChIP-Seq_MCF-7_Human2.74598365
14ZNF263_19887448_ChIP-Seq_K562_Human2.48159786
15TRIM28_21343339_ChIP-Seq_HEK293_Human2.39577679
16ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.39367615
17FUS_26573619_Chip-Seq_HEK293_Human2.37005496
18LXR_22158963_ChIP-Seq_LIVER_Mouse2.25733532
19GBX2_23144817_ChIP-Seq_PC3_Human2.25257559
20HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.24690375
21POU5F1_26923725_Chip-Seq_MESODERM_Mouse2.20246183
22TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.20246183
23RXR_22158963_ChIP-Seq_LIVER_Mouse2.11460077
24ESR2_21235772_ChIP-Seq_MCF-7_Human2.11374452
25CLOCK_20551151_ChIP-Seq_293T_Human1.93945732
26ER_23166858_ChIP-Seq_MCF-7_Human1.89631975
27CTBP1_25329375_ChIP-Seq_LNCAP_Human1.89375871
28CDX2_19796622_ChIP-Seq_MESCs_Mouse1.86988866
29FLI1_27457419_Chip-Seq_LIVER_Mouse1.83722902
30DNAJC2_21179169_ChIP-ChIP_NT2_Human1.80572384
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.72773513
32SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.72732901
33PPARA_22158963_ChIP-Seq_LIVER_Mouse1.71162055
34ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.69930045
35VDR_22108803_ChIP-Seq_LS180_Human1.68937035
36IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.64181212
37CBP_20019798_ChIP-Seq_JUKART_Human1.64181212
38EGR1_23403033_ChIP-Seq_LIVER_Mouse1.61794533
39GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.55888086
40TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.55283511
41SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.54548286
42P300_19829295_ChIP-Seq_ESCs_Human1.54090373
43CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.50910134
44BCAT_22108803_ChIP-Seq_LS180_Human1.49326416
45* NANOG_20526341_ChIP-Seq_ESCs_Human1.48489106
46KLF5_20875108_ChIP-Seq_MESCs_Mouse1.45183142
47STAT1_17558387_ChIP-Seq_HELA_Human1.44654340
48AR_21909140_ChIP-Seq_LNCAP_Human1.43956450
49WDR5_24793694_ChIP-Seq_LNCAP_Human1.43051538
50PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.42579196
51MYC_19915707_ChIP-ChIP_AK7_Human1.39447128
52ERA_21632823_ChIP-Seq_H3396_Human1.38159000
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.38095640
54SMAD4_21799915_ChIP-Seq_A2780_Human1.35356154
55TP53_18474530_ChIP-ChIP_U2OS_Human1.35112728
56* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.34603402
57SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.32777330
58SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.31931497
59NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.30285245
60EZH2_18974828_ChIP-Seq_MESCs_Mouse1.29516291
61RNF2_18974828_ChIP-Seq_MESCs_Mouse1.29516291
62CTCF_27219007_Chip-Seq_Bcells_Human1.28948855
63AR_25329375_ChIP-Seq_VCAP_Human1.27787193
64CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26547850
65GATA3_21867929_ChIP-Seq_TH1_Mouse1.26251811
66TBL1_22424771_ChIP-Seq_293T_Human1.25385929
67ELK4_26923725_Chip-Seq_MESODERM_Mouse1.24593284
68VDR_24787735_ChIP-Seq_THP-1_Human1.24442011
69SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.24086719
70* RUNX2_22187159_ChIP-Seq_PCA_Human1.23999380
71* OCT4_20526341_ChIP-Seq_ESCs_Human1.23313418
72* SMAD4_21741376_ChIP-Seq_HESCs_Human1.22432434
73NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.20592659
74ERG_20517297_ChIP-Seq_VCAP_Human1.20412478
75SMAD3_21741376_ChIP-Seq_HESCs_Human1.18127676
76PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.17992137
77SOX2_22085726_ChIP-Seq_NPCs_Mouse1.17540697
78STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.16967457
79SOX2_19829295_ChIP-Seq_ESCs_Human1.16950970
80NANOG_19829295_ChIP-Seq_ESCs_Human1.16950970
81PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.16918197
82PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.16129528
83ZNF217_24962896_ChIP-Seq_MCF-7_Human1.15872939
84SMAD1_18555785_Chip-Seq_ESCs_Mouse1.15335920
85P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14548947
86FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.14478292
87PRDM14_20953172_ChIP-Seq_ESCs_Human1.14303823
88ZFP57_27257070_Chip-Seq_ESCs_Mouse1.14211502
89RXR_22108803_ChIP-Seq_LS180_Human1.13327284
90FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.12749376
91SMAD4_21741376_ChIP-Seq_EPCs_Human1.12209855
92STAT3_23295773_ChIP-Seq_U87_Human1.11342419
93GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.10859564
94FLI1_21867929_ChIP-Seq_CD8_Mouse1.10490315
95* MYC_19829295_ChIP-Seq_ESCs_Human1.09476834
96TET1_21451524_ChIP-Seq_MESCs_Mouse1.08568622
97TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08537756
98AHR_22903824_ChIP-Seq_MCF-7_Human1.08108842
99VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.06691812
100SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.06059433
101SOX9_24532713_ChIP-Seq_HFSC_Mouse1.05520139
102IGF1R_20145208_ChIP-Seq_DFB_Human1.05017837
103SOX2_20726797_ChIP-Seq_SW620_Human1.04684497
104ELF1_20517297_ChIP-Seq_JURKAT_Human1.02436682
105FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.01628337
106P68_20966046_ChIP-Seq_HELA_Human1.01227422
107BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.01176629
108PCGF2_27294783_Chip-Seq_ESCs_Mouse1.01134559
109FOXH1_21741376_ChIP-Seq_ESCs_Human0.99270183
110EED_16625203_ChIP-ChIP_MESCs_Mouse0.99108904
111ESRRB_18555785_Chip-Seq_ESCs_Mouse0.99041745
112HOXB7_26014856_ChIP-Seq_BT474_Human0.99012365
113EP300_21415370_ChIP-Seq_HL-1_Mouse0.98416637
114SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.97977486
115BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.97673973
116SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.96902382
117MYC_27129775_Chip-Seq_CORNEA_Mouse0.96828687
118KDM2B_26808549_Chip-Seq_REH_Human0.96671542
119E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.96373185
120TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.96198605
121PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.95701806
122AUTS2_25519132_ChIP-Seq_293T-REX_Human0.95263440
123SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.95260373
124SMC4_20622854_ChIP-Seq_HELA_Human0.95235926
125LXR_22292898_ChIP-Seq_THP-1_Human0.93822026
126EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.93787648
127CTBP2_25329375_ChIP-Seq_LNCAP_Human0.93117056
128NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.92830678
129EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.92560229
130SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.92295147
131MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.92256021
132GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.91789529
133* CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.91774932
134* TOP2B_26459242_ChIP-Seq_MCF-7_Human0.91508584
135SUZ12_27294783_Chip-Seq_NPCs_Mouse0.91432040
136IRF1_19129219_ChIP-ChIP_H3396_Human0.91333119
137RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.91120282
138* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.89187420
139ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.87940933
140ZNF274_21170338_ChIP-Seq_K562_Hela0.87822535
141CBX2_27304074_Chip-Seq_ESCs_Mouse0.87266671
142MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.87118726
143MTF2_20144788_ChIP-Seq_MESCs_Mouse0.86948418
144FOXO3_23340844_ChIP-Seq_DLD1_Human0.86924066
145CSB_26484114_Chip-Seq_FIBROBLAST_Human0.86793954
146GF1B_26923725_Chip-Seq_HPCs_Mouse0.86166349
147RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.85598637
148ARNT_22903824_ChIP-Seq_MCF-7_Human0.85565913
149RACK7_27058665_Chip-Seq_MCF-7_Human0.85213480
150DROSHA_22980978_ChIP-Seq_HELA_Human0.85078866
151TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.84267849
152EWS_26573619_Chip-Seq_HEK293_Human0.84222596
153JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.84036560
154REST_19997604_ChIP-ChIP_NEURONS_Mouse0.83811629
155BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human0.82847189
156FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.82634438
157EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.82515176
158GATA3_21878914_ChIP-Seq_MCF-7_Human0.82472999
159SOX2_27498859_Chip-Seq_STOMACH_Mouse0.82209319
160GATA1_19941826_ChIP-Seq_K562_Human0.81593684
161CTCF_20526341_ChIP-Seq_ESCs_Human0.81570074
162CJUN_26792858_Chip-Seq_BT549_Human0.81017488
163SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.81004678
164TAF2_19829295_ChIP-Seq_ESCs_Human0.80954732
165PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.80832805
166EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.80796281
167E2F1_17053090_ChIP-ChIP_MCF-7_Human0.80662808
168TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.80572182
169RAC3_21632823_ChIP-Seq_H3396_Human0.80213620
170GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79384498
171P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.79278473
172* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.78980867
173TP63_23658742_ChIP-Seq_EP156T_Human0.78963361
174SALL4_22934838_ChIP-ChIP_CD34+_Human0.78695219
175OCT1_27270436_Chip-Seq_PROSTATE_Human0.78141004
176KDM2B_26808549_Chip-Seq_K562_Human0.77525829
177TCF4_23295773_ChIP-Seq_U87_Human0.77326054
178RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.76803305
179TCF4_22108803_ChIP-Seq_LS180_Human0.76776971
180SPI1_20517297_ChIP-Seq_HL60_Human0.76639809
181SMAD3_21741376_ChIP-Seq_ESCs_Human0.76095910
182TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.74572612
183PKCTHETA_26484144_Chip-Seq_BREAST_Human0.73818615

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003315_abnormal_perineum_morphology7.49626890
2MP0003195_calcinosis4.63669574
3MP0005058_abnormal_lysosome_morphology4.49320032
4MP0010234_abnormal_vibrissa_follicle3.99807578
5MP0002139_abnormal_hepatobiliary_system3.97879351
6MP0002254_reproductive_system_inflammat3.94596683
7MP0003303_peritoneal_inflammation3.89763717
8MP0004043_abnormal_pH_regulation3.78982892
9MP0002160_abnormal_reproductive_system3.75045553
10MP0003136_yellow_coat_color3.53971784
11MP0005410_abnormal_fertilization3.24668937
12MP0003300_gastrointestinal_ulcer2.73654277
13MP0001929_abnormal_gametogenesis2.59675205
14MP0001984_abnormal_olfaction2.56835611
15MP0000003_abnormal_adipose_tissue2.28568228
16MP0005647_abnormal_sex_gland2.28269765
17MP0002132_abnormal_respiratory_system2.24834319
18MP0005187_abnormal_penis_morphology2.23587159
19MP0003878_abnormal_ear_physiology2.20380282
20MP0005377_hearing/vestibular/ear_phenot2.20380282
21MP0010329_abnormal_lipoprotein_level2.18687468
22MP0005275_abnormal_skin_tensile2.13500980
23MP0005499_abnormal_olfactory_system2.08284668
24MP0005394_taste/olfaction_phenotype2.08284668
25MP0001664_abnormal_digestion2.00801996
26MP0008438_abnormal_cutaneous_collagen1.90483261
27MP0005365_abnormal_bile_salt1.88297368
28MP0005375_adipose_tissue_phenotype1.87908253
29MP0002168_other_aberrant_phenotype1.87859783
30MP0003705_abnormal_hypodermis_morpholog1.86209252
31MP0003329_amyloid_beta_deposits1.85880432
32MP0004858_abnormal_nervous_system1.83428322
33MP0005389_reproductive_system_phenotype1.82119609
34MP0001188_hyperpigmentation1.79611087
35MP0001765_abnormal_ion_homeostasis1.79456972
36MP0005360_urolithiasis1.78542066
37MP0005670_abnormal_white_adipose1.75798815
38MP0006072_abnormal_retinal_apoptosis1.74329887
39MP0010368_abnormal_lymphatic_system1.67731150
40MP0002138_abnormal_hepatobiliary_system1.67000249
41MP0004885_abnormal_endolymph1.62973995
42MP0001905_abnormal_dopamine_level1.59041361
43MP0004130_abnormal_muscle_cell1.56529083
44MP0000604_amyloidosis1.51433891
45MP0005085_abnormal_gallbladder_physiolo1.50738999
46MP0005666_abnormal_adipose_tissue1.49094946
47MP0002210_abnormal_sex_determination1.48549127
48MP0005636_abnormal_mineral_homeostasis1.48518340
49MP0009643_abnormal_urine_homeostasis1.47543154
50MP0001501_abnormal_sleep_pattern1.47452049
51MP0003252_abnormal_bile_duct1.45144805
52MP0003566_abnormal_cell_adhesion1.45134056
53MP0001145_abnormal_male_reproductive1.38430073
54MP0004185_abnormal_adipocyte_glucose1.37825736
55MP0001756_abnormal_urination1.37379997
56MP0002118_abnormal_lipid_homeostasis1.31553160
57MP0002102_abnormal_ear_morphology1.31462179
58MP0004019_abnormal_vitamin_homeostasis1.29033296
59MP0002837_dystrophic_cardiac_calcinosis1.28437183
60MP0003690_abnormal_glial_cell1.27364584
61MP0005332_abnormal_amino_acid1.26704741
62MP0009384_cardiac_valve_regurgitation1.25278745
63MP0002876_abnormal_thyroid_physiology1.24334589
64MP0008995_early_reproductive_senescence1.23684579
65MP0000653_abnormal_sex_gland1.23647104
66MP0001529_abnormal_vocalization1.22958578
67MP0005584_abnormal_enzyme/coenzyme_acti1.20409295
68MP0001919_abnormal_reproductive_system1.18702332
69MP0003698_abnormal_male_reproductive1.18633276
70MP0003191_abnormal_cellular_cholesterol1.18156590
71MP0003718_maternal_effect1.17502463
72MP0009780_abnormal_chondrocyte_physiolo1.13838373
73MP0001853_heart_inflammation1.13054740
74MP0002796_impaired_skin_barrier1.08751561
75MP0005646_abnormal_pituitary_gland1.08168781
76MP0004270_analgesia1.07697911
77MP0001440_abnormal_grooming_behavior1.06324025
78MP0010678_abnormal_skin_adnexa1.04764466
79MP0000537_abnormal_urethra_morphology1.03892449
80MP0000465_gastrointestinal_hemorrhage1.03550045
81MP0003045_fibrosis1.03220913
82MP0000534_abnormal_ureter_morphology1.01320761
83MP0003075_altered_response_to1.00728413
84MP0003879_abnormal_hair_cell1.00370662
85MP0002822_catalepsy0.98954548
86MP0004085_abnormal_heartbeat0.98543699
87MP0002009_preneoplasia0.98223436
88MP0002136_abnormal_kidney_physiology0.97615246
89MP0003632_abnormal_nervous_system0.97087522
90MP0005253_abnormal_eye_physiology0.95820895
91MP0002295_abnormal_pulmonary_circulatio0.94946344
92MP0002896_abnormal_bone_mineralization0.94075515
93MP0009763_increased_sensitivity_to0.94045085
94MP0000609_abnormal_liver_physiology0.91576265
95MP0001177_atelectasis0.90664614
96MP0005248_abnormal_Harderian_gland0.89197828
97MP0001666_abnormal_nutrient_absorption0.88396515
98MP0000631_abnormal_neuroendocrine_gland0.87083844
99MP0004381_abnormal_hair_follicle0.87043561
100MP0008004_abnormal_stomach_pH0.84573181
101MP0008789_abnormal_olfactory_epithelium0.84264731
102MP0006036_abnormal_mitochondrial_physio0.83839832
103MP0003936_abnormal_reproductive_system0.83663258
104MP0001849_ear_inflammation0.83646940
105MP0001958_emphysema0.82124856
106MP0009697_abnormal_copulation0.82067640
107MP0008875_abnormal_xenobiotic_pharmacok0.81811174
108MP0002272_abnormal_nervous_system0.81750817
109MP0003806_abnormal_nucleotide_metabolis0.81205576
110MP0003635_abnormal_synaptic_transmissio0.80992946
111MP0002166_altered_tumor_susceptibility0.80928351
112MP0005334_abnormal_fat_pad0.80171856
113MP0001968_abnormal_touch/_nociception0.79881058
114MP0002971_abnormal_brown_adipose0.79626065
115MP0000343_altered_response_to0.78986678
116MP0002127_abnormal_cardiovascular_syste0.78506465
117MP0000470_abnormal_stomach_morphology0.77622054
118MP0005319_abnormal_enzyme/_coenzyme0.76479853
119MP0002233_abnormal_nose_morphology0.74587680
120MP0004036_abnormal_muscle_relaxation0.74191826
121MP0003183_abnormal_peptide_metabolism0.73615863
122MP0005409_darkened_coat_color0.71249562
123MP0010386_abnormal_urinary_bladder0.70726184
124MP0005171_absent_coat_pigmentation0.70660235
125MP0000462_abnormal_digestive_system0.70341187
126MP0002090_abnormal_vision0.69767689
127MP0005395_other_phenotype0.68623442
128MP0004272_abnormal_basement_membrane0.66974389
129MP0004264_abnormal_extraembryonic_tissu0.65840651
130MP0004084_abnormal_cardiac_muscle0.65724199
131MP0000538_abnormal_urinary_bladder0.65154518
132MP0006276_abnormal_autonomic_nervous0.63438983
133MP0001486_abnormal_startle_reflex0.63432282
134MP0003631_nervous_system_phenotype0.63383867
135MP0000230_abnormal_systemic_arterial0.63252623
136MP0001661_extended_life_span0.61139307
137MP0003633_abnormal_nervous_system0.60960601
138MP0002909_abnormal_adrenal_gland0.59964850
139MP0001485_abnormal_pinna_reflex0.59474659
140MP0004742_abnormal_vestibular_system0.59386442
141MP0005408_hypopigmentation0.58773944
142MP0003866_abnormal_defecation0.58713560
143MP0005551_abnormal_eye_electrophysiolog0.57763638
144MP0009046_muscle_twitch0.56519127
145MP0000026_abnormal_inner_ear0.56059465
146MP0005535_abnormal_body_temperature0.55967750
147MP0003385_abnormal_body_wall0.55661058
148MP0000920_abnormal_myelination0.55252404
149MP0005174_abnormal_tail_pigmentation0.54225248
150MP0002752_abnormal_somatic_nervous0.54097348
151MP0009115_abnormal_fat_cell0.54088404
152MP0002249_abnormal_larynx_morphology0.53856361
153MP0002653_abnormal_ependyma_morphology0.53491242
154MP0002733_abnormal_thermal_nociception0.53417066
155MP0003890_abnormal_embryonic-extraembry0.53389058
156MP0001533_abnormal_skeleton_physiology0.53186823
157MP0002933_joint_inflammation0.52995667
158MP0005164_abnormal_response_to0.52737738
159MP0003868_abnormal_feces_composition0.52514203
160MP0002638_abnormal_pupillary_reflex0.52231320
161MP0002161_abnormal_fertility/fecundity0.52159603
162MP0004859_abnormal_synaptic_plasticity0.51239470
163MP0005166_decreased_susceptibility_to0.51016605
164MP0003938_abnormal_ear_development0.50884853
165MP0003656_abnormal_erythrocyte_physiolo0.50882830
166MP0003959_abnormal_lean_body0.50545248
167MP0002998_abnormal_bone_remodeling0.50283169
168MP0002067_abnormal_sensory_capabilities0.49210272
169MP0009745_abnormal_behavioral_response0.47671288
170MP0005620_abnormal_muscle_contractility0.47537947
171MP0002572_abnormal_emotion/affect_behav0.47219870
172MP0004145_abnormal_muscle_electrophysio0.47050067
173MP0001270_distended_abdomen0.46846922
174MP0004811_abnormal_neuron_physiology0.44168723
175MP0002064_seizures0.43831440
176MP0001764_abnormal_homeostasis0.43299958
177MP0001963_abnormal_hearing_physiology0.42312862
178MP0005391_vision/eye_phenotype0.41230485

Predicted human phenotypes

RankGene SetZ-score
1Abnormal sex determination (HP:0012244)7.63407287
2Sex reversal (HP:0012245)7.63407287
3Complement deficiency (HP:0004431)7.21951188
4Hypoplasia of the uterus (HP:0000013)7.21188831
5Resting tremor (HP:0002322)6.99292583
6Respiratory insufficiency due to defective ciliary clearance (HP:0200073)5.85658845
7Facial shape deformation (HP:0011334)5.78414532
8Potter facies (HP:0002009)5.78414532
9Absent/shortened dynein arms (HP:0200106)5.70396906
10Dynein arm defect of respiratory motile cilia (HP:0012255)5.70396906
11Abnormality of the columella (HP:0009929)5.47615508
12Aplasia/hypoplasia of the uterus (HP:0008684)5.41117686
13Abnormal respiratory motile cilium physiology (HP:0012261)5.37098211
14Gonadal dysgenesis (HP:0000133)5.35626474
15Abnormal ciliary motility (HP:0012262)5.34100039
16Choroideremia (HP:0001139)5.30838932
17Recurrent gram-negative bacterial infections (HP:0005420)5.28285567
18Vascular calcification (HP:0004934)5.19250977
19Abnormality of complement system (HP:0005339)5.16958528
20Myocardial infarction (HP:0001658)5.08431226
21Hypophosphatemic rickets (HP:0004912)5.02132154
22Reduced antithrombin III activity (HP:0001976)5.01932889
23Male pseudohermaphroditism (HP:0000037)4.90762298
24Cardiovascular calcification (HP:0011915)4.88250703
25Postural instability (HP:0002172)4.72141387
26Colitis (HP:0002583)4.67717792
27Abnormality of the fovea (HP:0000493)4.42744133
28Infertility (HP:0000789)4.35126853
29Germ cell neoplasia (HP:0100728)4.31540478
30Cerebellar dysplasia (HP:0007033)4.30726547
31Urinary urgency (HP:0000012)4.24086091
32Abnormal respiratory motile cilium morphology (HP:0005938)4.21987631
33Abnormal respiratory epithelium morphology (HP:0012253)4.21987631
34Ventricular fibrillation (HP:0001663)4.12208116
35Facial hemangioma (HP:0000329)4.03336243
36Central scotoma (HP:0000603)4.00350676
37Type II lissencephaly (HP:0007260)3.83017389
38Abnormal rod and cone electroretinograms (HP:0008323)3.81478282
39Thoracic kyphosis (HP:0002942)3.80638548
40Abnormality of macular pigmentation (HP:0008002)3.77471953
41Vacuolated lymphocytes (HP:0001922)3.77209177
42Intention tremor (HP:0002080)3.71248848
43Bony spicule pigmentary retinopathy (HP:0007737)3.41224710
44Cone-rod dystrophy (HP:0000548)3.37352574
45Inability to walk (HP:0002540)3.31402237
46Retinal dysplasia (HP:0007973)3.31310705
47Hypopigmentation of the fundus (HP:0007894)3.30232030
48Tubulointerstitial fibrosis (HP:0005576)3.28871242
49Thoracolumbar scoliosis (HP:0002944)3.28627630
50Protruding tongue (HP:0010808)3.27636397
51Proximal tubulopathy (HP:0000114)3.25365553
52Neurofibrillary tangles (HP:0002185)3.25000519
53Infantile muscular hypotonia (HP:0008947)3.18880657
54Atonic seizures (HP:0010819)3.16910110
55Abnormality of the intrinsic pathway (HP:0010989)3.15444902
56Cerebral inclusion bodies (HP:0100314)3.14180425
57Osteomalacia (HP:0002749)3.14069547
58Self-mutilation (HP:0000742)3.12194486
59Rickets (HP:0002748)3.04503930
60Chronic bronchitis (HP:0004469)3.03785366
61Action tremor (HP:0002345)3.01753869
62Malnutrition (HP:0004395)3.01191493
63Capillary hemangiomas (HP:0005306)2.97221757
64Retinal atrophy (HP:0001105)2.95791203
65Occipital encephalocele (HP:0002085)2.94700983
66Inflammation of the large intestine (HP:0002037)2.89233135
67Rhinitis (HP:0012384)2.88752126
68Metaphyseal cupping (HP:0003021)2.87478814
69Dyschromatopsia (HP:0007641)2.78737840
70Thin bony cortex (HP:0002753)2.77489795
71Polar cataract (HP:0010696)2.77221142
72Agitation (HP:0000713)2.76342188
73Hyperphosphatemia (HP:0002905)2.75028523
74Gastrointestinal inflammation (HP:0004386)2.71035354
75Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.70894654
76Focal segmental glomerulosclerosis (HP:0000097)2.69951472
77Hypothermia (HP:0002045)2.69237664
78Ketoacidosis (HP:0001993)2.68448553
79Degeneration of the lateral corticospinal tracts (HP:0002314)2.66486014
80Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.66486014
81Abnormality of the lumbar spine (HP:0100712)2.60979903
82Neoplasm of the heart (HP:0100544)2.60764075
83Congenital sensorineural hearing impairment (HP:0008527)2.57591624
84Abnormality of male internal genitalia (HP:0000022)2.55085729
85Deep venous thrombosis (HP:0002625)2.50916835
86Hyperglycinuria (HP:0003108)2.48270569
87Absent rod-and cone-mediated responses on ERG (HP:0007688)2.47733122
88Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.47673440
89Bronchiectasis (HP:0002110)2.47327431
90Sensory axonal neuropathy (HP:0003390)2.47186933
91Nasal polyposis (HP:0100582)2.46001395
92Macular degeneration (HP:0000608)2.40337703
93Hemiplegia (HP:0002301)2.39645385
94Acanthosis nigricans (HP:0000956)2.38417447
95Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.36414835
96Decreased activity of mitochondrial respiratory chain (HP:0008972)2.36414835
97Abnormality of the thoracic spine (HP:0100711)2.35347090
98Syncope (HP:0001279)2.33469806
99Prolonged QT interval (HP:0001657)2.27166565
100Xanthomatosis (HP:0000991)2.26730096
101Skin nodule (HP:0200036)2.26162383
102Widely patent fontanelles and sutures (HP:0004492)2.24949063
103Absent speech (HP:0001344)2.24787761
10411 pairs of ribs (HP:0000878)2.23519221
105Glomerulosclerosis (HP:0000096)2.20877159
106Dysostosis multiplex (HP:0000943)2.20337717
107Ketosis (HP:0001946)2.18421889
108Hemorrhage of the eye (HP:0011885)2.17760649
109Anterior segment dysgenesis (HP:0007700)2.17428313
110Progressive visual loss (HP:0000529)2.17211259
111Abnormality of the frontal sinuses (HP:0002687)2.15905717
112Buphthalmos (HP:0000557)2.14925782
113Abnormality of the nasal mucosa (HP:0000433)2.14169022
114Subcapsular cataract (HP:0000523)2.12862354
115Unsteady gait (HP:0002317)2.11665269
116Scotoma (HP:0000575)2.09482710
117Ectopia lentis (HP:0001083)2.08898023
118Supranuclear gaze palsy (HP:0000605)2.08709842
119Absent thumb (HP:0009777)2.08256475
120Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.08148358
121Aplasia/Hypoplasia of the uvula (HP:0010293)2.08053892
122Facial diplegia (HP:0001349)2.06963950
123Abnormal hemoglobin (HP:0011902)2.06915908
124Hypertriglyceridemia (HP:0002155)2.06050809
125Abnormality of glycine metabolism (HP:0010895)2.06034759
126Abnormality of serine family amino acid metabolism (HP:0010894)2.06034759
127Increased connective tissue (HP:0009025)2.02224819
128Hand muscle atrophy (HP:0009130)2.01034660
129Hypophosphatemia (HP:0002148)2.00199148
130Aortic aneurysm (HP:0004942)2.00074627
131True hermaphroditism (HP:0010459)1.99599736
132Muscle fiber splitting (HP:0003555)1.99309936
133Systemic lupus erythematosus (HP:0002725)1.98591913
134Hyporeflexia of lower limbs (HP:0002600)1.97703870
135Bicornuate uterus (HP:0000813)1.97647860
136Cystic liver disease (HP:0006706)1.97381253
137Abnormality of the corticospinal tract (HP:0002492)1.97371553
138Pancreatic cysts (HP:0001737)1.96939872
139Hypoplasia of the brainstem (HP:0002365)1.95160868
140Aplasia/Hypoplasia of the brainstem (HP:0007362)1.95160868
141Hypercholesterolemia (HP:0003124)1.94950481
142Bile duct proliferation (HP:0001408)1.94153953
143Abnormal biliary tract physiology (HP:0012439)1.94153953
144Choreoathetosis (HP:0001266)1.93569877
145Abnormality of purine metabolism (HP:0004352)1.91617188
146Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.89561663
147Oligomenorrhea (HP:0000876)1.87116247
148Optic nerve hypoplasia (HP:0000609)1.86880643
149Stridor (HP:0010307)1.85050504
150Enlarged kidneys (HP:0000105)1.84895116
151Hyperglycinemia (HP:0002154)1.84245664
152Decreased central vision (HP:0007663)1.83947605
153Tubulointerstitial abnormality (HP:0001969)1.81826830
154Intrahepatic cholestasis (HP:0001406)1.81825798
155Abnormality of the ileum (HP:0001549)1.81645546
156Abolished electroretinogram (ERG) (HP:0000550)1.80409367
157Abnormal protein glycosylation (HP:0012346)1.80041672
158Abnormal glycosylation (HP:0012345)1.80041672
159Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.80041672
160Abnormal protein N-linked glycosylation (HP:0012347)1.80041672
161Missing ribs (HP:0000921)1.79708905
162Restlessness (HP:0000711)1.78682281
163Epidermoid cyst (HP:0200040)1.78531539
164Anencephaly (HP:0002323)1.78514397
165Pancreatic fibrosis (HP:0100732)1.78476595
166Upper limb amyotrophy (HP:0009129)1.76822146
167Distal upper limb amyotrophy (HP:0007149)1.76822146
168Abnormality of sulfur amino acid metabolism (HP:0004339)1.75879759
169Abnormality of the calcaneus (HP:0008364)1.75444720
170Intellectual disability, progressive (HP:0006887)1.74612933
171Coxa valga (HP:0002673)1.74491382
172Esophageal varix (HP:0002040)1.74254826
173Renal dysplasia (HP:0000110)1.71726190
174Bradykinesia (HP:0002067)1.71072529
175Abnormal drinking behavior (HP:0030082)1.70327135
176Polydipsia (HP:0001959)1.70327135
177High anterior hairline (HP:0009890)1.69633211
178Difficulty running (HP:0009046)1.68423269
179Chronic sinusitis (HP:0011109)1.68222861
180Polyneuropathy (HP:0001271)1.68132150
181Chronic hepatic failure (HP:0100626)1.67033770
182Spinal rigidity (HP:0003306)1.66604134
183Atrial fibrillation (HP:0005110)1.66503603
184Amyloidosis (HP:0011034)1.66015783
185Median cleft lip (HP:0000161)1.64965634
186Hyperparathyroidism (HP:0000843)1.62612583
187Aplasia involving bones of the upper limbs (HP:0009823)1.61481128
188Aplasia of the phalanges of the hand (HP:0009802)1.61481128
189Aplasia involving bones of the extremities (HP:0009825)1.61481128
190Aortic dissection (HP:0002647)1.61339958
191Depression (HP:0000716)1.60574590
192Spontaneous abortion (HP:0005268)1.59948344
193Turricephaly (HP:0000262)1.59669042
194Abnormality of the vitreous humor (HP:0004327)1.57712365
195Meckel diverticulum (HP:0002245)1.57452350
196Right ventricular cardiomyopathy (HP:0011663)1.57259302
197Hypoalphalipoproteinemia (HP:0003233)1.56519323

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK35.95010077
2ZAK4.07739750
3TLK13.67886051
4TAOK33.45358331
5MST43.44522433
6AKT33.31402577
7LMTK23.13135382
8RPS6KA52.84182113
9SIK12.81109002
10FRK2.67796104
11ERN12.62124437
12MYLK2.57411578
13NEK22.33046308
14EPHB12.27899560
15FGFR22.25726719
16WNK42.25399497
17INSRR2.13762635
18TRIB32.12435836
19FER2.07342742
20STK38L2.02881650
21PINK111.6523807
22PDGFRA1.99268432
23LRRK21.79991123
24PKN21.78716769
25MAP2K71.73596904
26PRKD31.68784172
27TTN1.64951045
28LATS11.59718987
29FGFR41.47780630
30MAP3K21.46001047
31STK391.45044792
32CAMK1D1.43923287
33PAK21.34178093
34CDK31.32781213
35CAMK1G1.26888898
36PTK21.20252520
37TESK11.20023611
38SGK4941.19500649
39SGK2231.19500649
40RET1.18851112
41RIPK11.18655426
42DDR21.17482224
43PAK31.13808523
44CSNK1A1L1.11396749
45TNK21.11045564
46MAP2K41.09671966
47BMPR1B1.07166014
48RIPK41.02679076
49PTK61.02002017
50BCKDK0.98556452
51DMPK0.98311389
52TYRO30.97899979
53MAP3K60.94467442
54WNK10.94356744
55ERBB20.93431954
56IRAK30.90898654
57PRKCH0.90556187
58DYRK30.90104237
59INSR0.88781120
60PTK2B0.88370118
61STK100.87033218
62CSNK1G30.85099395
63LATS20.82688100
64NTRK10.82317712
65CDK140.82127404
66VRK10.82015336
67MAPK150.81953870
68PRKCQ0.75912160
69MST1R0.75729187
70CDK190.74028575
71FGFR30.73150720
72JAK20.72083527
73NTRK30.70907500
74BMX0.70887952
75EEF2K0.70731162
76DYRK1B0.70693000
77ICK0.69965107
78SCYL20.69055520
79ADRBK20.67881122
80PHKG10.67221820
81PHKG20.67221820
82FYN0.66437584
83EPHB20.65976250
84CSNK1G10.65070797
85DAPK30.64752791
86DYRK20.64275484
87PDK30.64136072
88PDK40.64136072
89MATK0.63997587
90MELK0.63672027
91FGR0.63295299
92JAK10.62612554
93GRK60.62537492
94PAK60.62002327
95EGFR0.61835059
96OBSCN0.61199074
97STK380.60943489
98CSNK1G20.60505178
99EPHA30.59919686
100MAP3K90.58240572
101MAP3K40.58240371
102PDGFRB0.58042694
103DAPK20.57904531
104EIF2AK30.57052644
105EPHA20.56738916
106SRC0.56214553
107PKN10.54897219
108MAP3K70.54046732
109MAP2K10.52947570
110CDK50.52891316
111GSK3A0.52703187
112ARAF0.52689695
113PRKCZ0.51042063
114IRAK20.50532348
115TGFBR10.48106930
116PDPK10.47553681
117PRKD10.47309715
118CDC42BPA0.47101559
119PRKCG0.46368144
120FGFR10.46342017
121PRKCI0.45823219
122SGK20.45094823
123KSR20.44884014
124MET0.44735593
125MAP3K10.43788360
126PRKG20.42489071
127MAP3K50.42156712
128CAMK10.41982368
129PDK10.41766682
130WNK30.41553579
131PRKACG0.41545886
132ROCK10.41103526
133SGK10.39538025
134PAK10.39202751
135PLK40.38456787
136TIE10.38368358
137PIK3CG0.37650954
138CSK0.36324179
139PDK20.36301707
140IGF1R0.35073530
141ROCK20.34632474
142RPS6KB10.32024437
143MAP3K130.31706777
144MAPK130.29476885
145PRKG10.29294890
146GRK10.28607969
147STK30.27323550
148ATM0.26486608
149CSNK1A10.24905462
150AKT20.21531755
151CASK0.19454674
152MARK10.19438207
153RPS6KA40.18056982
154RPS6KA30.18003073
155MINK10.16964974
156MOS0.16716395
157MAPK10.15755607
158ILK0.15233058
159MTOR0.13109974
160CCNB10.12945286
161TAOK10.12353537
162MAP4K20.12039096
163CDK80.11783756
164RPS6KA10.11775310
165MAPK120.11450530
166TRIM280.11077882
167BRAF0.10971556
168SGK30.10410890
169PRKAA10.09569656
170CAMK40.09546755

Predicted pathways (KEGG)

RankGene SetZ-score
1Pathogenic Escherichia coli infection_Homo sapiens_hsa051308.01136693
2Gap junction_Homo sapiens_hsa045405.44620614
3Nitrogen metabolism_Homo sapiens_hsa009105.08765881
4Hedgehog signaling pathway_Homo sapiens_hsa043403.36691854
5Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.32534769
6Glutathione metabolism_Homo sapiens_hsa004803.28671785
7Systemic lupus erythematosus_Homo sapiens_hsa053222.98335678
8Arachidonic acid metabolism_Homo sapiens_hsa005902.94200366
9Tryptophan metabolism_Homo sapiens_hsa003802.85476649
10Thyroid hormone synthesis_Homo sapiens_hsa049182.84382155
11Apoptosis_Homo sapiens_hsa042102.83745382
12Phagosome_Homo sapiens_hsa041452.80816356
13Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.72946556
14ABC transporters_Homo sapiens_hsa020102.52314505
15Alcoholism_Homo sapiens_hsa050342.45273229
16Fatty acid degradation_Homo sapiens_hsa000712.42533895
17African trypanosomiasis_Homo sapiens_hsa051432.41520791
18Sulfur metabolism_Homo sapiens_hsa009202.37136773
19Fatty acid metabolism_Homo sapiens_hsa012122.32351184
20Olfactory transduction_Homo sapiens_hsa047402.28801474
21PPAR signaling pathway_Homo sapiens_hsa033202.11408883
22Arginine biosynthesis_Homo sapiens_hsa002201.82025947
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.68417321
24Glycerolipid metabolism_Homo sapiens_hsa005611.67092352
25Complement and coagulation cascades_Homo sapiens_hsa046101.60709563
26Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.54147608
27alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.51368082
28Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.50458086
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.44951464
30Salivary secretion_Homo sapiens_hsa049701.42810164
31Steroid hormone biosynthesis_Homo sapiens_hsa001401.41917697
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.41871381
33Taste transduction_Homo sapiens_hsa047421.41374713
34Fatty acid biosynthesis_Homo sapiens_hsa000611.40209134
35Primary bile acid biosynthesis_Homo sapiens_hsa001201.38140739
36Dorso-ventral axis formation_Homo sapiens_hsa043201.33449819
37Prion diseases_Homo sapiens_hsa050201.29518053
38Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.28703580
39Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.22385126
40Propanoate metabolism_Homo sapiens_hsa006401.20751945
412-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.17888933
42Fat digestion and absorption_Homo sapiens_hsa049751.10401502
43Lysosome_Homo sapiens_hsa041421.03261199
44Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.01112421
45Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.99981725
46Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.99233689
47Tyrosine metabolism_Homo sapiens_hsa003500.98242978
48Staphylococcus aureus infection_Homo sapiens_hsa051500.97948544
49Phenylalanine metabolism_Homo sapiens_hsa003600.94098554
50Bile secretion_Homo sapiens_hsa049760.93409729
51Oocyte meiosis_Homo sapiens_hsa041140.92940727
52Pyruvate metabolism_Homo sapiens_hsa006200.92763790
53Renin secretion_Homo sapiens_hsa049240.89965695
54Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.89775159
55beta-Alanine metabolism_Homo sapiens_hsa004100.88471393
56Gastric acid secretion_Homo sapiens_hsa049710.88238391
57Starch and sucrose metabolism_Homo sapiens_hsa005000.85951212
58Other glycan degradation_Homo sapiens_hsa005110.85640004
59Butanoate metabolism_Homo sapiens_hsa006500.85421218
60Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.84968557
61Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.84522250
62Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.78627496
63Circadian rhythm_Homo sapiens_hsa047100.78150952
64Basal transcription factors_Homo sapiens_hsa030220.77415008
65Carbon metabolism_Homo sapiens_hsa012000.76254293
66Oxytocin signaling pathway_Homo sapiens_hsa049210.73231845
67Biosynthesis of amino acids_Homo sapiens_hsa012300.72526495
68Vitamin B6 metabolism_Homo sapiens_hsa007500.71032431
69Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.66458020
70Phototransduction_Homo sapiens_hsa047440.66279393
71Chemical carcinogenesis_Homo sapiens_hsa052040.63383319
72Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.61985168
73Peroxisome_Homo sapiens_hsa041460.61869874
74Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.61350392
75Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.60534984
76Estrogen signaling pathway_Homo sapiens_hsa049150.58535863
77Transcriptional misregulation in cancer_Homo sapiens_hsa052020.57933398
78Arginine and proline metabolism_Homo sapiens_hsa003300.57922293
79Vascular smooth muscle contraction_Homo sapiens_hsa042700.56379850
80Protein digestion and absorption_Homo sapiens_hsa049740.55934428
81Sphingolipid metabolism_Homo sapiens_hsa006000.54678794
82Collecting duct acid secretion_Homo sapiens_hsa049660.54057348
83Adipocytokine signaling pathway_Homo sapiens_hsa049200.52747027
84Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.51633532
85Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.51553177
86Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51219715
87Glycerophospholipid metabolism_Homo sapiens_hsa005640.49772111
88Vibrio cholerae infection_Homo sapiens_hsa051100.49738537
89Nicotine addiction_Homo sapiens_hsa050330.46779337
90GABAergic synapse_Homo sapiens_hsa047270.46450140
91TGF-beta signaling pathway_Homo sapiens_hsa043500.45532107
92Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.44945395
93Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.43366072
94mRNA surveillance pathway_Homo sapiens_hsa030150.42392796
95Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.41965939
96Long-term potentiation_Homo sapiens_hsa047200.40246671
97Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.40119636
98Aldosterone synthesis and secretion_Homo sapiens_hsa049250.39841185
99Histidine metabolism_Homo sapiens_hsa003400.38679827
100Purine metabolism_Homo sapiens_hsa002300.37670712
101Endometrial cancer_Homo sapiens_hsa052130.37629282
102Fatty acid elongation_Homo sapiens_hsa000620.37373265
103Type II diabetes mellitus_Homo sapiens_hsa049300.36763418
104Cysteine and methionine metabolism_Homo sapiens_hsa002700.36459248
105Vitamin digestion and absorption_Homo sapiens_hsa049770.36391183
106Circadian entrainment_Homo sapiens_hsa047130.36201471
107Synaptic vesicle cycle_Homo sapiens_hsa047210.36061374
108Wnt signaling pathway_Homo sapiens_hsa043100.35426761
109cGMP-PKG signaling pathway_Homo sapiens_hsa040220.34453942
110Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.34066958
111Insulin resistance_Homo sapiens_hsa049310.32666951
112Leukocyte transendothelial migration_Homo sapiens_hsa046700.32603559
113Pentose and glucuronate interconversions_Homo sapiens_hsa000400.32451813
114Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.31044409
115cAMP signaling pathway_Homo sapiens_hsa040240.30923857
116Sphingolipid signaling pathway_Homo sapiens_hsa040710.30702308
117Choline metabolism in cancer_Homo sapiens_hsa052310.30650779
118Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30567692
119Pentose phosphate pathway_Homo sapiens_hsa000300.30402558
120Fanconi anemia pathway_Homo sapiens_hsa034600.29825407
121Pancreatic secretion_Homo sapiens_hsa049720.29433744
122Morphine addiction_Homo sapiens_hsa050320.29052639
123Glutamatergic synapse_Homo sapiens_hsa047240.28471493
124Cyanoamino acid metabolism_Homo sapiens_hsa004600.28447359
125AMPK signaling pathway_Homo sapiens_hsa041520.27450418
126Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.27372863
127Insulin secretion_Homo sapiens_hsa049110.27125527
128ECM-receptor interaction_Homo sapiens_hsa045120.26676646
129Mineral absorption_Homo sapiens_hsa049780.26521908
130Glucagon signaling pathway_Homo sapiens_hsa049220.25963821
131Ovarian steroidogenesis_Homo sapiens_hsa049130.25206589
132Metabolic pathways_Homo sapiens_hsa011000.24174543
133N-Glycan biosynthesis_Homo sapiens_hsa005100.23710670
134GnRH signaling pathway_Homo sapiens_hsa049120.23651448
135Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.23405663
136Prostate cancer_Homo sapiens_hsa052150.22959732
137Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.22560054
138Amphetamine addiction_Homo sapiens_hsa050310.22241141
139Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.21682534
140Melanoma_Homo sapiens_hsa052180.21460774
141Tight junction_Homo sapiens_hsa045300.21294320
142Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.21212375
143Calcium signaling pathway_Homo sapiens_hsa040200.20967772
144Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.20806807
145Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.20705795
146Retinol metabolism_Homo sapiens_hsa008300.20521507
147Dilated cardiomyopathy_Homo sapiens_hsa054140.19525107
148Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.19284309
149Cholinergic synapse_Homo sapiens_hsa047250.18650951
150Phosphatidylinositol signaling system_Homo sapiens_hsa040700.16176951
151Serotonergic synapse_Homo sapiens_hsa047260.15591365
152MAPK signaling pathway_Homo sapiens_hsa040100.14424450

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