ALG9

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 an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epithelial cell fate commitment (GO:0072148)6.31357155
2lung epithelium development (GO:0060428)5.68172329
3chondrocyte proliferation (GO:0035988)5.41224863
4antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.21324317
5neuron projection extension involved in neuron projection guidance (GO:1902284)5.06005354
6axon extension involved in axon guidance (GO:0048846)5.06005354
7lens fiber cell development (GO:0070307)4.98381433
8positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)4.88462862
9axon ensheathment in central nervous system (GO:0032291)4.48732649
10central nervous system myelination (GO:0022010)4.48732649
11negative regulation of astrocyte differentiation (GO:0048712)4.37323306
12behavioral response to nicotine (GO:0035095)4.35799722
13endosome to pigment granule transport (GO:0043485)4.34829828
14endosome to melanosome transport (GO:0035646)4.34829828
15cellular response to cholesterol (GO:0071397)4.29387345
16midgut development (GO:0007494)4.22882680
17response to muramyl dipeptide (GO:0032495)4.16798519
18positive regulation of cellular amide metabolic process (GO:0034250)4.04794781
19cellular response to follicle-stimulating hormone stimulus (GO:0071372)4.01164919
20epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)3.97774755
21regulation of extracellular matrix organization (GO:1903053)3.90184148
22regulation of astrocyte differentiation (GO:0048710)3.80048352
23neural tube formation (GO:0001841)3.78785589
24response to cholesterol (GO:0070723)3.72790486
25mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.72083081
26kynurenine metabolic process (GO:0070189)3.67257505
27exocrine pancreas development (GO:0031017)3.62925799
28tryptophan catabolic process (GO:0006569)3.62255256
29indole-containing compound catabolic process (GO:0042436)3.62255256
30indolalkylamine catabolic process (GO:0046218)3.62255256
31DNA double-strand break processing (GO:0000729)3.61106486
32myoblast migration (GO:0051451)3.48819327
33detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.46813460
34positive regulation by symbiont of host defense response (GO:0052509)3.46398402
35modulation by symbiont of host defense response (GO:0052031)3.46398402
36modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.46398402
37modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.46398402
38positive regulation by organism of defense response of other organism involved in symbiotic interact3.46398402
39modulation by symbiont of host immune response (GO:0052553)3.46398402
40cerebral cortex radially oriented cell migration (GO:0021799)3.46205421
41positive regulation of extracellular matrix organization (GO:1903055)3.41745493
42cellular glucuronidation (GO:0052695)3.38321158
43chaperone mediated protein folding requiring cofactor (GO:0051085)3.30727004
44low-density lipoprotein particle clearance (GO:0034383)3.29331060
45cellular ketone body metabolic process (GO:0046950)3.27281952
46Notch signaling involved in heart development (GO:0061314)3.26624935
47endocardial cushion morphogenesis (GO:0003203)3.26116646
48cell migration involved in heart development (GO:0060973)3.25764213
49positive regulation of astrocyte differentiation (GO:0048711)3.23653211
50indolalkylamine metabolic process (GO:0006586)3.20747131
51pyrimidine nucleobase catabolic process (GO:0006208)3.18684161
52cellular response to sterol (GO:0036315)3.18557934
53base-excision repair, AP site formation (GO:0006285)3.17922616
54venous blood vessel morphogenesis (GO:0048845)3.15126858
55lens morphogenesis in camera-type eye (GO:0002089)3.11803456
56fucose catabolic process (GO:0019317)3.11116578
57L-fucose metabolic process (GO:0042354)3.11116578
58L-fucose catabolic process (GO:0042355)3.11116578
59negative regulation of glial cell differentiation (GO:0045686)3.10238682
60presynaptic membrane assembly (GO:0097105)3.09060519
61protein polyglutamylation (GO:0018095)3.08427476
62prenylation (GO:0097354)3.07242174
63protein prenylation (GO:0018342)3.07242174
64replication fork processing (GO:0031297)3.05798369
65heart valve formation (GO:0003188)3.04331494
66membrane protein intracellular domain proteolysis (GO:0031293)3.03785448
67detection of light stimulus involved in visual perception (GO:0050908)3.03260180
68detection of light stimulus involved in sensory perception (GO:0050962)3.03260180
69response to sterol (GO:0036314)3.03073964
70regulation of endothelial cell chemotaxis (GO:2001026)3.02142444
71cornea development in camera-type eye (GO:0061303)3.02026980
72activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO3.02014189
73signal peptide processing (GO:0006465)3.00741383
74limb bud formation (GO:0060174)3.00283143
75epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.98606166
76inner ear receptor cell differentiation (GO:0060113)2.98539937
77negative regulation of glial cell proliferation (GO:0060253)2.98265533
78regulation of somitogenesis (GO:0014807)2.97982765
79response to follicle-stimulating hormone (GO:0032354)2.97485728
80glucuronate metabolic process (GO:0019585)2.96557112
81uronic acid metabolic process (GO:0006063)2.96557112
82detection of biotic stimulus (GO:0009595)2.95442957
83intraciliary transport (GO:0042073)2.95028914
84L-alpha-amino acid transmembrane transport (GO:1902475)2.95017158
85centriole replication (GO:0007099)2.94871370
86muscle cell migration (GO:0014812)2.93146043
87ketone body metabolic process (GO:1902224)2.92171137
88negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.91402081
89tryptophan metabolic process (GO:0006568)2.91129234
90hydrogen peroxide biosynthetic process (GO:0050665)2.91109042
91epithelial cell differentiation involved in prostate gland development (GO:0060742)2.89798114
92negative regulation of cytosolic calcium ion concentration (GO:0051481)2.89323676
93regulation of hair follicle development (GO:0051797)2.87288881
94alpha-linolenic acid metabolic process (GO:0036109)2.87162000
95negative regulation of oligodendrocyte differentiation (GO:0048715)2.87100456
96response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.86687703
97response to host (GO:0075136)2.86687703
98response to host defenses (GO:0052200)2.86687703
99cilium morphogenesis (GO:0060271)2.85272951
100nonmotile primary cilium assembly (GO:0035058)2.84459780
101retinal ganglion cell axon guidance (GO:0031290)2.83375903
102positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.82796548
103atrioventricular valve morphogenesis (GO:0003181)2.82174982
104gamma-aminobutyric acid transport (GO:0015812)2.81989190
105response to pheromone (GO:0019236)2.80338972
106behavioral response to ethanol (GO:0048149)2.80250168
107water-soluble vitamin biosynthetic process (GO:0042364)2.78633224
108amyloid precursor protein catabolic process (GO:0042987)2.77953786
109regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)2.77753987
110dendritic spine morphogenesis (GO:0060997)2.77721374
111presynaptic membrane organization (GO:0097090)2.76437580
112resolution of meiotic recombination intermediates (GO:0000712)2.74239013
113nucleobase catabolic process (GO:0046113)2.72869759
114G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.72441589
115regulation of hippo signaling (GO:0035330)2.71884792
116central nervous system neuron axonogenesis (GO:0021955)2.71732923
117central nervous system projection neuron axonogenesis (GO:0021952)2.69634554
118plasma lipoprotein particle clearance (GO:0034381)2.68211969
119respiratory tube development (GO:0030323)2.68202296
120regulation of cilium movement (GO:0003352)2.66756726
121cilium assembly (GO:0042384)2.66707533
122neutrophil activation involved in immune response (GO:0002283)2.66334434
123urea metabolic process (GO:0019627)2.66204984
124urea cycle (GO:0000050)2.66204984
125cilium organization (GO:0044782)2.66141610
126photoreceptor cell maintenance (GO:0045494)2.65119035
127inner ear receptor stereocilium organization (GO:0060122)2.64485264
128negative regulation of interleukin-12 production (GO:0032695)2.64330566
129regulation of glucokinase activity (GO:0033131)2.63008950
130regulation of hexokinase activity (GO:1903299)2.63008950
131coronary vasculature morphogenesis (GO:0060977)2.61146683
132reactive oxygen species biosynthetic process (GO:1903409)2.61067330
133apoptotic process involved in morphogenesis (GO:0060561)2.60607106
134respiratory chain complex IV assembly (GO:0008535)2.59867294
135negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)2.59198865
136protein complex biogenesis (GO:0070271)2.58042044
137COPI coating of Golgi vesicle (GO:0048205)2.56081087
138Golgi transport vesicle coating (GO:0048200)2.56081087
139embryonic camera-type eye development (GO:0031076)2.55643209
140barbed-end actin filament capping (GO:0051016)2.55435579
141lens fiber cell differentiation (GO:0070306)2.54084553
142protein localization to cilium (GO:0061512)2.54078760
143adenosine metabolic process (GO:0046085)2.49304430
144very-low-density lipoprotein particle assembly (GO:0034379)2.46891582
145axonal fasciculation (GO:0007413)2.46662801
146establishment of protein localization to Golgi (GO:0072600)2.45261596
147axoneme assembly (GO:0035082)2.45098130
148epithelial cilium movement (GO:0003351)2.44205239
149heart trabecula morphogenesis (GO:0061384)2.44145071
150cerebral cortex cell migration (GO:0021795)2.44092595
151smoothened signaling pathway (GO:0007224)2.43864839
152recombinational repair (GO:0000725)2.43379486
153cytokine secretion (GO:0050663)2.42992037
154mitochondrial respiratory chain complex assembly (GO:0033108)2.42602148
155double-strand break repair via homologous recombination (GO:0000724)2.42542626
156indole-containing compound metabolic process (GO:0042430)2.42494284
157retinal cone cell development (GO:0046549)2.42311660
158somite development (GO:0061053)2.42062019
159transmission of nerve impulse (GO:0019226)2.40871302
160cAMP catabolic process (GO:0006198)2.40586198
161folic acid-containing compound biosynthetic process (GO:0009396)2.40345686
162neuron recognition (GO:0008038)2.39403147
163negative regulation of myeloid cell apoptotic process (GO:0033033)2.39303502
164head development (GO:0060322)2.39272919
165reflex (GO:0060004)2.39246378
166somatic diversification of immune receptors via somatic mutation (GO:0002566)2.38886762
167somatic hypermutation of immunoglobulin genes (GO:0016446)2.38886762
168left/right axis specification (GO:0070986)2.38563966
169mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.38152731
170mitochondrial respiratory chain complex I assembly (GO:0032981)2.38152731
171NADH dehydrogenase complex assembly (GO:0010257)2.38152731
172negative regulation of gliogenesis (GO:0014014)2.37800319
173ventricular trabecula myocardium morphogenesis (GO:0003222)2.37601666
174limb development (GO:0060173)2.37303327
175appendage development (GO:0048736)2.37303327
176negative regulation of transcription regulatory region DNA binding (GO:2000678)2.36838206
177kidney morphogenesis (GO:0060993)2.35997082
178preassembly of GPI anchor in ER membrane (GO:0016254)2.35188072
179aromatic amino acid family catabolic process (GO:0009074)2.35158408
180cytochrome complex assembly (GO:0017004)2.35138164
181protein-cofactor linkage (GO:0018065)2.35100057
182embryonic epithelial tube formation (GO:0001838)2.34936762
183regulation of rhodopsin mediated signaling pathway (GO:0022400)2.34187933
184acrosome reaction (GO:0007340)2.33991111
185iron ion import (GO:0097286)2.33623303
186response to peptidoglycan (GO:0032494)2.32942343
187collecting duct development (GO:0072044)2.32069819
188atrial cardiac muscle cell action potential (GO:0086014)2.30340519
189sympathetic nervous system development (GO:0048485)2.29714758
190cyclic nucleotide catabolic process (GO:0009214)2.29453581
191photoreceptor cell development (GO:0042461)2.29275086
192neuron fate determination (GO:0048664)2.28775810
193negative regulation of DNA-dependent DNA replication (GO:2000104)2.28675328
194neuronal action potential (GO:0019228)2.28582919
195reciprocal meiotic recombination (GO:0007131)2.28305371
196reciprocal DNA recombination (GO:0035825)2.28305371
197detection of mechanical stimulus involved in sensory perception (GO:0050974)2.27821562
198amine catabolic process (GO:0009310)2.27685709

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.61378701
2STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse4.54233921
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.11703545
4IRF8_22096565_ChIP-ChIP_GC-B_Human3.99818466
5E2F7_22180533_ChIP-Seq_HELA_Human3.87154202
6EGR1_19374776_ChIP-ChIP_THP-1_Human3.75563024
7SCL_19346495_ChIP-Seq_HPC-7_Human3.70369918
8EGR1_23403033_ChIP-Seq_LIVER_Mouse3.66955885
9RXR_22158963_ChIP-Seq_LIVER_Mouse3.65616808
10* IRF8_21731497_ChIP-ChIP_J774_Mouse3.53327092
11GBX2_23144817_ChIP-Seq_PC3_Human3.50139540
12TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.44553748
13FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.22839845
14ZNF274_21170338_ChIP-Seq_K562_Hela3.22651028
15PPARA_22158963_ChIP-Seq_LIVER_Mouse3.00429351
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.97590332
17IGF1R_20145208_ChIP-Seq_DFB_Human2.94042903
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.90494667
19VDR_22108803_ChIP-Seq_LS180_Human2.77122942
20EZH2_22144423_ChIP-Seq_EOC_Human2.72880081
21POU3F2_20337985_ChIP-ChIP_501MEL_Human2.63258095
22Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.61754840
23SALL1_21062744_ChIP-ChIP_HESCs_Human2.59902204
24TAF15_26573619_Chip-Seq_HEK293_Human2.56218673
25IRF8_27001747_Chip-Seq_BMDM_Mouse2.53463839
26EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.46876811
27RBPJ_22232070_ChIP-Seq_NCS_Mouse2.45059114
28CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.44653553
29CTBP2_25329375_ChIP-Seq_LNCAP_Human2.41415309
30* LXR_22158963_ChIP-Seq_LIVER_Mouse2.40632833
31MYB_21317192_ChIP-Seq_ERMYB_Mouse2.38279450
32NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.37940268
33EWS_26573619_Chip-Seq_HEK293_Human2.33728294
34FUS_26573619_Chip-Seq_HEK293_Human2.33403958
35NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.25944381
36FLI1_27457419_Chip-Seq_LIVER_Mouse2.21160112
37SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.20463672
38P300_19829295_ChIP-Seq_ESCs_Human2.14572659
39CTBP1_25329375_ChIP-Seq_LNCAP_Human2.14101420
40* CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.07850122
41SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.88299038
42PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.87602861
43TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.87157100
44AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.84516119
45SALL4_18804426_ChIP-ChIP_XEN_Mouse1.81713741
46ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.77289601
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.77070652
48SMAD4_21799915_ChIP-Seq_A2780_Human1.76831423
49PCGF2_27294783_Chip-Seq_ESCs_Mouse1.76657225
50HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.72243215
51PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.71291555
52MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.70250574
53ER_23166858_ChIP-Seq_MCF-7_Human1.69314044
54PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.67687017
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.67188934
56FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.66346145
57CBX2_27304074_Chip-Seq_ESCs_Mouse1.66199115
58STAT3_23295773_ChIP-Seq_U87_Human1.65900931
59NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.64213326
60RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.62285832
61MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.62266213
62UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.61736288
63CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.58173761
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.57285661
65CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.57282522
66MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.57018556
67CBP_20019798_ChIP-Seq_JUKART_Human1.54128620
68IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.54128620
69FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.53285168
70SMAD3_21741376_ChIP-Seq_EPCs_Human1.52734857
71SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.52364332
72AR_25329375_ChIP-Seq_VCAP_Human1.51855862
73TCF4_23295773_ChIP-Seq_U87_Human1.49926295
74AR_21909140_ChIP-Seq_LNCAP_Human1.48023784
75ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.47799816
76BCAT_22108803_ChIP-Seq_LS180_Human1.47674332
77NOTCH1_21737748_ChIP-Seq_TLL_Human1.46006096
78SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45849020
79OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.44245281
80PCGF2_27294783_Chip-Seq_NPCs_Mouse1.43247895
81NR3C1_21868756_ChIP-Seq_MCF10A_Human1.42667964
82SUZ12_27294783_Chip-Seq_NPCs_Mouse1.41978240
83PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.40945110
84IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.40016640
85MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.39241237
86TOP2B_26459242_ChIP-Seq_MCF-7_Human1.38573010
87HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.38110271
88RNF2_27304074_Chip-Seq_NSC_Mouse1.35850431
89SPI1_23547873_ChIP-Seq_NB4_Human1.35035528
90NANOG_18555785_Chip-Seq_ESCs_Mouse1.32695800
91TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.32628107
92TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.32085965
93NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.31871522
94RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30178263
95TCF4_22108803_ChIP-Seq_LS180_Human1.29406360
96GATA4_25053715_ChIP-Seq_YYC3_Human1.28932792
97* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.28858319
98REST_21632747_ChIP-Seq_MESCs_Mouse1.28727713
99TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.28414115
100POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.28414115
101EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.28150072
102KLF5_20875108_ChIP-Seq_MESCs_Mouse1.27867345
103RUNX2_22187159_ChIP-Seq_PCA_Human1.24609571
104BMI1_23680149_ChIP-Seq_NPCS_Mouse1.24329773
105FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.24066909
106IRF1_19129219_ChIP-ChIP_H3396_Human1.23996041
107* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.23699300
108FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.22617381
109TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22116547
110TP53_22573176_ChIP-Seq_HFKS_Human1.21423208
111CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.20853856
112SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.20301742
113EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.20170729
114BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.20021874
115SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.19905379
116SOX2_19829295_ChIP-Seq_ESCs_Human1.19768902
117NANOG_19829295_ChIP-Seq_ESCs_Human1.19768902
118TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.19388326
119STAT4_19710469_ChIP-ChIP_TH1__Mouse1.19347122
120TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.19136670
121EST1_17652178_ChIP-ChIP_JURKAT_Human1.18631098
122PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.18278098
123SOX2_20726797_ChIP-Seq_SW620_Human1.17551940
124MYC_18555785_ChIP-Seq_MESCs_Mouse1.16438096
125PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.16435718
126KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.16147697
127SRY_22984422_ChIP-ChIP_TESTIS_Rat1.15773312
128ELK1_19687146_ChIP-ChIP_HELA_Human1.15448791
129ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.15411702
130CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.14792767
131GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14761730
132* IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.14736078
133* MYC_18940864_ChIP-ChIP_HL60_Human1.14510345
134GABP_17652178_ChIP-ChIP_JURKAT_Human1.14219412
135RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.13830806
136E2F1_18555785_Chip-Seq_ESCs_Mouse1.12809979
137CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11598451
138P53_22387025_ChIP-Seq_ESCs_Mouse1.11483062
139FLI1_21867929_ChIP-Seq_TH2_Mouse1.11412669
140AR_21572438_ChIP-Seq_LNCaP_Human1.11132926
141CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.11021463
142GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.10239671
143CDX2_20551321_ChIP-Seq_CACO-2_Human1.09451052
144ERG_20887958_ChIP-Seq_HPC-7_Mouse1.09065637
145LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.08525094
146PU_27001747_Chip-Seq_BMDM_Mouse1.08212308
147GATA1_22383799_ChIP-Seq_G1ME_Mouse1.07799999
148SOX2_21211035_ChIP-Seq_LN229_Gbm1.06805989
149STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.06407847
150SMAD4_21741376_ChIP-Seq_EPCs_Human1.06344231
151* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06066657
152GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06031826
153VDR_24787735_ChIP-Seq_THP-1_Human1.05917369
154* PRDM14_20953172_ChIP-Seq_ESCs_Human1.05790675
155CRX_20693478_ChIP-Seq_RETINA_Mouse1.03723122
156STAT3_18555785_Chip-Seq_ESCs_Mouse1.02934450
157* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.02682227
158E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.02438004
159POU5F1_16153702_ChIP-ChIP_HESCs_Human1.02380603
160SUZ12_18555785_Chip-Seq_ESCs_Mouse1.00837977
161RUNX1_22412390_ChIP-Seq_EML_Mouse1.00212862
162NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.99694723
163TP63_19390658_ChIP-ChIP_HaCaT_Human0.99239018
164CMYC_18555785_Chip-Seq_ESCs_Mouse0.98846312
165P300_18555785_Chip-Seq_ESCs_Mouse0.98019876
166TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.97563943
167TP53_16413492_ChIP-PET_HCT116_Human0.97176614
168NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.96072964
169SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.95927328
170SOX2_27498859_Chip-Seq_STOMACH_Mouse0.95581605
171GATA3_26560356_Chip-Seq_TH2_Human0.95423403
172VDR_24763502_ChIP-Seq_THP-1_Human0.94628732
173SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.93731866
174HTT_18923047_ChIP-ChIP_STHdh_Human0.93697785
175NFE2_27457419_Chip-Seq_LIVER_Mouse0.92851328
176GATA2_22383799_ChIP-Seq_G1ME_Mouse0.90456600
177SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.89787638
178FOXM1_23109430_ChIP-Seq_U2OS_Human0.89163910
179PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.89152270
180* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.88805071
181KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.88201940
182LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.87946515
183VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.87098728
184GATA1_19941827_ChIP-Seq_MEL_Mouse0.85218012
185GATA1_19941826_ChIP-Seq_K562_Human0.83488668
186CLOCK_20551151_ChIP-Seq_293T_Human0.81530827
187* HOXB4_20404135_ChIP-ChIP_EML_Mouse0.80980434
188THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.79930364
189EZH2_27294783_Chip-Seq_NPCs_Mouse0.79102259
190SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.77212974
191SRF_21415370_ChIP-Seq_HL-1_Mouse0.76655097
192EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.75959784
193GATA3_24758297_ChIP-Seq_MCF-7_Human0.75894573

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000566_synostosis7.81906979
2MP0009780_abnormal_chondrocyte_physiolo5.43236836
3MP0002139_abnormal_hepatobiliary_system3.78484597
4MP0005423_abnormal_somatic_nervous3.44489471
5MP0005257_abnormal_intraocular_pressure3.08710161
6MP0004134_abnormal_chest_morphology2.99031019
7MP0003880_abnormal_central_pattern2.71374579
8MP0010030_abnormal_orbit_morphology2.65645616
9MP0006292_abnormal_olfactory_placode2.58525471
10MP0002102_abnormal_ear_morphology2.54622416
11MP0002938_white_spotting2.37485366
12MP0005551_abnormal_eye_electrophysiolog2.26537652
13MP0008877_abnormal_DNA_methylation2.26294731
14MP0005365_abnormal_bile_salt2.18586754
15MP0001984_abnormal_olfaction1.98249790
16MP0006072_abnormal_retinal_apoptosis1.96914233
17MP0003787_abnormal_imprinting1.96279215
18MP0003436_decreased_susceptibility_to1.94609778
19MP0000778_abnormal_nervous_system1.91315896
20MP0002234_abnormal_pharynx_morphology1.90905325
21MP0009046_muscle_twitch1.88580146
22MP0009840_abnormal_foam_cell1.87919628
23MP0008057_abnormal_DNA_replication1.87895897
24MP0005085_abnormal_gallbladder_physiolo1.86088552
25MP0000631_abnormal_neuroendocrine_gland1.84828486
26MP0005253_abnormal_eye_physiology1.78790632
27MP0003656_abnormal_erythrocyte_physiolo1.77838527
28MP0004043_abnormal_pH_regulation1.76146569
29MP0002089_abnormal_postnatal_growth/wei1.72011797
30MP0005464_abnormal_platelet_physiology1.68154454
31MP0003172_abnormal_lysosome_physiology1.66227759
32MP0001529_abnormal_vocalization1.64748309
33MP0000685_abnormal_immune_system1.64320050
34MP0003252_abnormal_bile_duct1.58201891
35MP0002876_abnormal_thyroid_physiology1.58180997
36MP0005646_abnormal_pituitary_gland1.58152845
37MP0003122_maternal_imprinting1.56591867
38MP0002837_dystrophic_cardiac_calcinosis1.56324521
39MP0005220_abnormal_exocrine_pancreas1.56071629
40MP0006276_abnormal_autonomic_nervous1.55844244
41MP0005670_abnormal_white_adipose1.54970315
42MP0009745_abnormal_behavioral_response1.53974580
43MP0001968_abnormal_touch/_nociception1.49267479
44MP0001533_abnormal_skeleton_physiology1.48546432
45MP0002933_joint_inflammation1.48189311
46MP0005645_abnormal_hypothalamus_physiol1.47116258
47MP0005360_urolithiasis1.46967185
48MP0003186_abnormal_redox_activity1.46189363
49MP0003136_yellow_coat_color1.45170987
50MP0002249_abnormal_larynx_morphology1.44826934
51MP0002272_abnormal_nervous_system1.41995197
52MP0002419_abnormal_innate_immunity1.40915845
53MP0008875_abnormal_xenobiotic_pharmacok1.40653291
54MP0004142_abnormal_muscle_tone1.39466154
55MP0000427_abnormal_hair_cycle1.38342505
56MP0003121_genomic_imprinting1.38201348
57MP0003195_calcinosis1.37059762
58MP0009384_cardiac_valve_regurgitation1.35870007
59MP0004885_abnormal_endolymph1.35145131
60MP0001486_abnormal_startle_reflex1.34802734
61MP0002928_abnormal_bile_duct1.34745944
62MP0005083_abnormal_biliary_tract1.34712260
63MP0001835_abnormal_antigen_presentation1.34280065
64MP0001958_emphysema1.33944477
65MP0002557_abnormal_social/conspecific_i1.31340216
66MP0008789_abnormal_olfactory_epithelium1.30888790
67MP0003868_abnormal_feces_composition1.30822042
68MP0009053_abnormal_anal_canal1.29967061
69MP0002184_abnormal_innervation1.29173957
70MP0002736_abnormal_nociception_after1.27089122
71MP0003937_abnormal_limbs/digits/tail_de1.25318955
72MP0000049_abnormal_middle_ear1.23961318
73MP0002163_abnormal_gland_morphology1.23334209
74MP0008872_abnormal_physiological_respon1.23265653
75MP0003646_muscle_fatigue1.20462161
76MP0004145_abnormal_muscle_electrophysio1.20005286
77MP0004133_heterotaxia1.19957469
78MP0004147_increased_porphyrin_level1.19097356
79MP0000015_abnormal_ear_pigmentation1.18983207
80MP0002751_abnormal_autonomic_nervous1.17895024
81MP0002998_abnormal_bone_remodeling1.16893739
82MP0002572_abnormal_emotion/affect_behav1.16472107
83MP0005386_behavior/neurological_phenoty1.16469037
84MP0004924_abnormal_behavior1.16469037
85MP0000371_diluted_coat_color1.16412047
86MP0008260_abnormal_autophagy1.15910154
87MP0010386_abnormal_urinary_bladder1.15849026
88MP0000372_irregular_coat_pigmentation1.14374048
89MP0002653_abnormal_ependyma_morphology1.14031570
90MP0003635_abnormal_synaptic_transmissio1.13684702
91MP0001485_abnormal_pinna_reflex1.13100515
92MP0003111_abnormal_nucleus_morphology1.12800938
93MP0001501_abnormal_sleep_pattern1.12473628
94MP0000490_abnormal_crypts_of1.12124411
95MP0003693_abnormal_embryo_hatching1.10898317
96MP0002752_abnormal_somatic_nervous1.09843777
97MP0002233_abnormal_nose_morphology1.09674230
98MP0005195_abnormal_posterior_eye1.09617938
99MP0003718_maternal_effect1.08697379
100MP0002734_abnormal_mechanical_nocicepti1.07624468
101MP0000858_altered_metastatic_potential1.06643223
102MP0005390_skeleton_phenotype1.05928181
103MP0002064_seizures1.04677378
104MP0003119_abnormal_digestive_system1.04094106
105MP0000516_abnormal_urinary_system1.03561701
106MP0005367_renal/urinary_system_phenotyp1.03561701
107MP0003075_altered_response_to1.03324095
108MP0000955_abnormal_spinal_cord1.03217890
109MP0002733_abnormal_thermal_nociception1.00809326
110MP0003191_abnormal_cellular_cholesterol1.00562448
111MP0001970_abnormal_pain_threshold1.00133684
112MP0002160_abnormal_reproductive_system0.98708623
113MP0003011_delayed_dark_adaptation0.98208432
114MP0000163_abnormal_cartilage_morphology0.97931161
115MP0005394_taste/olfaction_phenotype0.97730229
116MP0005499_abnormal_olfactory_system0.97730229
117MP0000647_abnormal_sebaceous_gland0.97707131
118MP0005391_vision/eye_phenotype0.97606354
119MP0002063_abnormal_learning/memory/cond0.97587980
120MP0005025_abnormal_response_to0.97422620
121MP0002067_abnormal_sensory_capabilities0.96619979
122MP0002882_abnormal_neuron_morphology0.95667927
123MP0002822_catalepsy0.95292371
124MP0000538_abnormal_urinary_bladder0.94833042
125MP0001879_abnormal_lymphatic_vessel0.94701685
126MP0002452_abnormal_antigen_presenting0.94485838
127MP0005084_abnormal_gallbladder_morpholo0.94163712
128MP0005379_endocrine/exocrine_gland_phen0.93211148
129MP0002095_abnormal_skin_pigmentation0.92759576
130MP0003890_abnormal_embryonic-extraembry0.92663060
131MP0002282_abnormal_trachea_morphology0.92580192
132MP0000762_abnormal_tongue_morphology0.91944172
133MP0002909_abnormal_adrenal_gland0.90866664
134MP0006082_CNS_inflammation0.90323803
135MP0002148_abnormal_hypersensitivity_rea0.90102894
136MP0004215_abnormal_myocardial_fiber0.88260946
137MP0001790_abnormal_immune_system0.87900921
138MP0005387_immune_system_phenotype0.87900921
139MP0003115_abnormal_respiratory_system0.86723259
140MP0002735_abnormal_chemical_nociception0.86254352
141MP0005174_abnormal_tail_pigmentation0.85780322
142MP0000609_abnormal_liver_physiology0.84748624
143MP0005166_decreased_susceptibility_to0.84433558
144MP0008058_abnormal_DNA_repair0.84212114
145MP0005076_abnormal_cell_differentiation0.83627209
146MP0003698_abnormal_male_reproductive0.83597445
147MP0003755_abnormal_palate_morphology0.83542893
148MP0002396_abnormal_hematopoietic_system0.83021383
149MP0010329_abnormal_lipoprotein_level0.82936949
150MP0005319_abnormal_enzyme/_coenzyme0.82646514
151MP0001293_anophthalmia0.82188581
152MP0002638_abnormal_pupillary_reflex0.82069994
153MP0001845_abnormal_inflammatory_respons0.80834154
154MP0004782_abnormal_surfactant_physiolog0.80135028
155MP0008775_abnormal_heart_ventricle0.80033269
156MP0008469_abnormal_protein_level0.79585241
157MP0004742_abnormal_vestibular_system0.79535766
158MP0001286_abnormal_eye_development0.79215187
159MP0005171_absent_coat_pigmentation0.79082757
160MP0003950_abnormal_plasma_membrane0.79022975
161MP0005197_abnormal_uvea_morphology0.78897616
162MP0000026_abnormal_inner_ear0.78855771
163MP0005508_abnormal_skeleton_morphology0.78344990
164MP0002113_abnormal_skeleton_development0.78254438
165MP0003300_gastrointestinal_ulcer0.75236980
166MP0001666_abnormal_nutrient_absorption0.74204755
167MP0005000_abnormal_immune_tolerance0.74158170
168MP0009250_abnormal_appendicular_skeleto0.73004630
169MP0002138_abnormal_hepatobiliary_system0.72593964
170MP0001188_hyperpigmentation0.71655282
171MP0009785_altered_susceptibility_to0.69328972
172MP0004381_abnormal_hair_follicle0.69008578
173MP0001800_abnormal_humoral_immune0.68940710
174MP0010368_abnormal_lymphatic_system0.68822810
175MP0005666_abnormal_adipose_tissue0.68292786
176MP0000569_abnormal_digit_pigmentation0.67335170
177MP0003091_abnormal_cell_migration0.65552434
178MP0002115_abnormal_skeleton_extremities0.65431022
179MP0001819_abnormal_immune_cell0.64523395
180MP0005332_abnormal_amino_acid0.64403767
181MP0005164_abnormal_response_to0.64212587
182MP0003806_abnormal_nucleotide_metabolis0.63724704
183MP0009697_abnormal_copulation0.62721395
184MP0001853_heart_inflammation0.62534238
185MP0002075_abnormal_coat/hair_pigmentati0.62401233
186MP0002111_abnormal_tail_morphology0.62034137

Predicted human phenotypes

RankGene SetZ-score
1Neonatal short-limb short stature (HP:0008921)5.92852532
2Abnormality of the lumbar spine (HP:0100712)4.25929735
3Pancreatic cysts (HP:0001737)4.24452009
4Partial duplication of thumb phalanx (HP:0009944)4.19037840
5Abnormality of incisor morphology (HP:0011063)4.13034268
6Hyperventilation (HP:0002883)3.97024061
7Pancreatic fibrosis (HP:0100732)3.95135221
8True hermaphroditism (HP:0010459)3.89974758
9Molar tooth sign on MRI (HP:0002419)3.75405674
10Abnormality of midbrain morphology (HP:0002418)3.75405674
11Partial duplication of the phalanx of hand (HP:0009999)3.46432686
12Abnormality of the middle phalanges of the toes (HP:0010183)3.42475254
13Nephronophthisis (HP:0000090)3.39764888
14Short femoral neck (HP:0100864)3.31635691
15Xerostomia (HP:0000217)3.30740822
16Congenital stationary night blindness (HP:0007642)3.23811887
17Aplasia involving bones of the extremities (HP:0009825)3.21577375
18Aplasia involving bones of the upper limbs (HP:0009823)3.21577375
19Aplasia of the phalanges of the hand (HP:0009802)3.21577375
20Duplication of thumb phalanx (HP:0009942)3.20754840
21Recurrent corneal erosions (HP:0000495)3.19346168
22Abnormality of the renal medulla (HP:0100957)3.13869257
23Glomerulonephritis (HP:0000099)3.13564995
24Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)3.01060103
25Broad-based gait (HP:0002136)3.00869386
26Chronic hepatic failure (HP:0100626)2.98497578
27Small epiphyses (HP:0010585)2.96582883
28Medial flaring of the eyebrow (HP:0010747)2.95795172
29Abnormality of the renal cortex (HP:0011035)2.94374417
30Coronal craniosynostosis (HP:0004440)2.93789687
31Nasolacrimal duct obstruction (HP:0000579)2.93292064
32Recurrent gram-negative bacterial infections (HP:0005420)2.90905966
33Abnormal tarsal ossification (HP:0008369)2.90410290
34Epiphyseal dysplasia (HP:0002656)2.85286943
35Type II lissencephaly (HP:0007260)2.84273536
36Cystic liver disease (HP:0006706)2.81195929
37Duplicated collecting system (HP:0000081)2.80270682
38Abnormality of the labia minora (HP:0012880)2.78425226
39Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.77898547
40Genu varum (HP:0002970)2.69449315
41Absent speech (HP:0001344)2.66100864
42Colon cancer (HP:0003003)2.65683645
43Infantile muscular hypotonia (HP:0008947)2.65512625
44Recurrent abscess formation (HP:0002722)2.64415732
45Abnormality of pyrimidine metabolism (HP:0004353)2.62384965
46Conical tooth (HP:0000698)2.61523470
47Adactyly (HP:0009776)2.59371542
48Spastic diplegia (HP:0001264)2.59098891
49Gaze-evoked nystagmus (HP:0000640)2.58665155
50Irregular vertebral endplates (HP:0003301)2.58348577
51Germ cell neoplasia (HP:0100728)2.58278027
52Renal cortical cysts (HP:0000803)2.57813993
53Abnormality of complement system (HP:0005339)2.56907312
54Abnormality of the vertebral endplates (HP:0005106)2.56487960
55Abnormality of the right ventricle (HP:0001707)2.55505121
56Lissencephaly (HP:0001339)2.53779639
57Attenuation of retinal blood vessels (HP:0007843)2.53406057
58Recurrent bacterial skin infections (HP:0005406)2.53391242
59Abnormality of the renal collecting system (HP:0004742)2.51252484
60Sclerocornea (HP:0000647)2.48687095
61Alacrima (HP:0000522)2.48590874
62Mixed hearing impairment (HP:0000410)2.48373073
63Gait imbalance (HP:0002141)2.44502533
64Tubulointerstitial nephritis (HP:0001970)2.43854788
65Neoplasm of the adrenal cortex (HP:0100641)2.41929504
66Birth length less than 3rd percentile (HP:0003561)2.41517194
67Patent foramen ovale (HP:0001655)2.38661940
68Congenital primary aphakia (HP:0007707)2.37907729
69Cerebellar dysplasia (HP:0007033)2.32787762
70Aplasia/hypoplasia of the femur (HP:0005613)2.32588893
71Neonatal death (HP:0003811)2.31012735
72Febrile seizures (HP:0002373)2.30938980
73Esophageal varix (HP:0002040)2.30755292
74Aplasia/Hypoplasia of the tongue (HP:0010295)2.29646485
75Aplasia/Hypoplasia of the tibia (HP:0005772)2.29406647
76Pachygyria (HP:0001302)2.26807952
77Postaxial foot polydactyly (HP:0001830)2.24189164
78Furrowed tongue (HP:0000221)2.22345000
79Anencephaly (HP:0002323)2.21472220
80Nephrogenic diabetes insipidus (HP:0009806)2.19253349
81Genital tract atresia (HP:0001827)2.18082250
82Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)2.16995494
83Osteoarthritis (HP:0002758)2.15604033
84Bile duct proliferation (HP:0001408)2.15021514
85Abnormal biliary tract physiology (HP:0012439)2.15021514
86Progressive cerebellar ataxia (HP:0002073)2.15002231
87Intestinal atresia (HP:0011100)2.13934103
88Vaginal atresia (HP:0000148)2.13772242
89Complement deficiency (HP:0004431)2.13516053
90Congenital hepatic fibrosis (HP:0002612)2.12157689
91Anterior segment dysgenesis (HP:0007700)2.11973953
92Abnormality of the lacrimal duct (HP:0011481)2.11952187
93Bulbous nose (HP:0000414)2.10586494
94Short middle phalanx of finger (HP:0005819)2.09587773
95Aplasia cutis congenita (HP:0001057)2.09064293
96Decreased lacrimation (HP:0000633)2.08959499
97Flared metaphyses (HP:0003015)2.08606543
98Inability to walk (HP:0002540)2.05668277
99Postaxial hand polydactyly (HP:0001162)2.04579371
100Keratoconus (HP:0000563)2.04502358
101Increased corneal curvature (HP:0100692)2.04502358
102Narrow forehead (HP:0000341)2.03020252
103Fair hair (HP:0002286)2.02611162
104Abnormality of alanine metabolism (HP:0010916)2.02591247
105Hyperalaninemia (HP:0003348)2.02591247
106Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.02591247
107Preaxial hand polydactyly (HP:0001177)2.02439412
108Myocardial infarction (HP:0001658)2.01264982
109Dandy-Walker malformation (HP:0001305)2.00425176
110Mediastinal lymphadenopathy (HP:0100721)2.00257599
111Optic nerve hypoplasia (HP:0000609)1.99408517
112Abnormality of the incisor (HP:0000676)1.99334925
113Abnormality of the anterior horn cell (HP:0006802)1.98488860
114Degeneration of anterior horn cells (HP:0002398)1.98488860
115Hydroxyprolinuria (HP:0003080)1.98484064
116Abnormality of proline metabolism (HP:0010907)1.98484064
117Abnormality of the costochondral junction (HP:0000919)1.98396476
118Thickened helices (HP:0000391)1.98278064
119Heterotopia (HP:0002282)1.97024367
120Abolished electroretinogram (ERG) (HP:0000550)1.96931818
121Agnosia (HP:0010524)1.96771637
122Occipital encephalocele (HP:0002085)1.96640607
123Leiomyosarcoma (HP:0100243)1.95611145
124Uterine leiomyosarcoma (HP:0002891)1.95611145
125Aplasia/Hypoplasia of the scapulae (HP:0006713)1.94969348
126Hypoplastic scapulae (HP:0000882)1.94969348
127Small hand (HP:0200055)1.93998504
128Bifid tongue (HP:0010297)1.93363702
129Abnormality of the epiphyses of the hand (HP:0005924)1.92499543
130Bony spicule pigmentary retinopathy (HP:0007737)1.92145454
131Methylmalonic acidemia (HP:0002912)1.91383019
132Bifid scrotum (HP:0000048)1.91151117
133Urticaria (HP:0001025)1.91104384
134Overfolded helix (HP:0000396)1.90915527
135Hyperglycinemia (HP:0002154)1.89265202
136Focal motor seizures (HP:0011153)1.88648259
137Abnormal rod and cone electroretinograms (HP:0008323)1.87546503
138Widely spaced teeth (HP:0000687)1.87183090
139Abnormality of monocarboxylic acid metabolism (HP:0010996)1.87182134
140Abnormality involving the epiphyses of the upper limbs (HP:0003839)1.86964401
141Systemic lupus erythematosus (HP:0002725)1.86325021
142Visceral angiomatosis (HP:0100761)1.86304408
143Male pseudohermaphroditism (HP:0000037)1.84853664
144Gonadal dysgenesis (HP:0000133)1.84770117
145Highly arched eyebrow (HP:0002553)1.84089930
146Neonatal hypoglycemia (HP:0001998)1.83887817
147Focal seizures (HP:0007359)1.83489340
148Eczematoid dermatitis (HP:0000976)1.82819742
149Tubular atrophy (HP:0000092)1.81476318
150Pendular nystagmus (HP:0012043)1.81195331
151Tubulointerstitial abnormality (HP:0001969)1.81120966
152Patellar aplasia (HP:0006443)1.80509147
153Hyperammonemia (HP:0001987)1.80380186
154Amyloidosis (HP:0011034)1.80049173
155Albinism (HP:0001022)1.79705587
156Aplasia/Hypoplasia of the uvula (HP:0010293)1.79581254
157Prominent nasal bridge (HP:0000426)1.79209646
158Drooling (HP:0002307)1.79120504
159Spinal canal stenosis (HP:0003416)1.78802725
160Large for gestational age (HP:0001520)1.77877556
161Hemangiomatosis (HP:0007461)1.77762280
162Abnormality of macrophages (HP:0004311)1.76846282
163Carpal bone hypoplasia (HP:0001498)1.76654667
164Megalencephaly (HP:0001355)1.76021469
165Increased CSF lactate (HP:0002490)1.75471583
166Hypoplastic labia majora (HP:0000059)1.75385447
167Retinal dysplasia (HP:0007973)1.75266509
168Abnormality of the pons (HP:0007361)1.74441151
169Camptodactyly of toe (HP:0001836)1.74379146
170Thyroid-stimulating hormone excess (HP:0002925)1.74252468
171Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.73744110
172Enlarged kidneys (HP:0000105)1.73393872
173Joint contractures involving the joints of the feet (HP:0100492)1.73219371
174Flexion contracture of toe (HP:0005830)1.73219371
175Abnormal foot bone ossification (HP:0010675)1.73040556
176Astigmatism (HP:0000483)1.72898915
177Limited hip movement (HP:0008800)1.72102805
178Severe muscular hypotonia (HP:0006829)1.72020427
179Poor coordination (HP:0002370)1.71195681
180Hepatic necrosis (HP:0002605)1.71070596
181Abnormality of the nasolacrimal system (HP:0000614)1.70998926
182Hypothermia (HP:0002045)1.70901181
183Spinal muscular atrophy (HP:0007269)1.70728292
184Progressive macrocephaly (HP:0004481)1.70386124
185Subacute progressive viral hepatitis (HP:0006572)1.69922338
186Renal hypoplasia (HP:0000089)1.69881070
187Progressive inability to walk (HP:0002505)1.69814019
188Central scotoma (HP:0000603)1.69748673
189Hypoplasia of the pons (HP:0012110)1.69395860
190Abnormality of glutamine family amino acid metabolism (HP:0010902)1.69320488
191Intrahepatic cholestasis (HP:0001406)1.69249820
192Abnormality of macular pigmentation (HP:0008002)1.68673485
193Azoospermia (HP:0000027)1.68630246
194Neoplasm of the oral cavity (HP:0100649)1.66458909
195Hemiparesis (HP:0001269)1.65456926
196Mitochondrial inheritance (HP:0001427)1.64655779
197Cutaneous finger syndactyly (HP:0010554)1.64540358
198Sloping forehead (HP:0000340)1.64458060

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.58112531
2BUB15.58562498
3CASK3.57051111
4ACVR1B3.50207790
5EIF2AK33.39760156
6BMPR1B3.33656938
7PKN23.27100811
8MST1R3.25168502
9TNIK2.95693249
10WNK32.82511980
11FGFR32.65563825
12SIK12.37026352
13MAP3K142.28475383
14MAP3K42.15567104
15CDK82.12389081
16BCR2.07724206
17FLT32.06860521
18MARK12.03875499
19MAP4K22.00872720
20EPHA41.96828799
21IRAK31.87725818
22GRK11.81974658
23FGFR21.80330706
24BMX1.72967122
25TXK1.70243288
26RIPK41.67394580
27CAMK1D1.66940914
28KIT1.65254040
29MAPK131.64708494
30LATS11.64632223
31FGFR11.62070427
32TRIM281.58078816
33ERBB41.56449294
34AKT31.52324899
35MKNK21.51261702
36STK391.50858107
37MAP2K71.48068790
38JAK31.47599007
39ERN11.44104520
40BLK1.43144442
41SCYL21.42568861
42MELK1.41682343
43WNK41.39479083
44ADRBK21.38075759
45ERBB31.37718534
46INSRR1.36449571
47PLK21.28408562
48PINK11.25956775
49PLK41.25143918
50TGFBR11.21297846
51PAK31.19367666
52TBK11.16410904
53YES11.14528157
54PBK1.13441092
55EPHA21.11885787
56PHKG21.11564963
57PHKG11.11564963
58MAP3K71.10641262
59STK38L1.10177253
60IKBKE1.10138949
61STK31.09871800
62TAF11.05438039
63ABL21.04441561
64BRSK21.03038285
65NME21.02761187
66EIF2AK21.02110443
67CSF1R1.00612694
68OXSR11.00561235
69TGFBR20.99643328
70PLK30.98426356
71CDK40.98187225
72PNCK0.97835178
73TRIB30.95987375
74MKNK10.95874000
75IKBKB0.95697983
76NTRK30.92077006
77PRKCE0.91805038
78PRKCG0.89644681
79NEK90.89637846
80DYRK20.89035783
81ATR0.86188410
82PTK60.84482151
83EEF2K0.83744508
84MUSK0.82357083
85CSNK1G10.82319003
86NEK20.81255633
87CAMKK20.80967547
88VRK20.79749094
89STK160.78009014
90ADRBK10.77840996
91LYN0.72078944
92MARK30.71574088
93EPHA30.69990839
94ERBB20.67596520
95PRKCZ0.66909897
96WEE10.66459025
97CSNK1G30.64497621
98NTRK20.64332725
99CAMK1G0.62467846
100ZAK0.62114876
101PDGFRB0.61973973
102CHUK0.61794855
103PASK0.61485256
104FER0.61415178
105MAP2K10.59252232
106IGF1R0.57471774
107TIE10.57375729
108PDK20.57043046
109BCKDK0.56012217
110CDK30.55929969
111NUAK10.54628552
112TYK20.54040631
113PAK40.53978539
114ZAP700.53949740
115PLK10.53425068
116TTK0.53277481
117MAPKAPK50.52430332
118EIF2AK10.51621740
119JAK20.50353664
120ABL10.50117926
121MAP2K20.50001347
122CAMK2A0.49712138
123STK110.49691811
124ATM0.48522516
125RIPK10.48291109
126MET0.48172363
127PIM10.47180964
128JAK10.46958987
129CHEK20.45846969
130SIK20.45645648
131PRKAA10.44487542
132PRKAA20.43154357
133SGK20.43087103
134CSNK1G20.43077470
135DAPK20.41834262
136BTK0.41340859
137SIK30.41158187
138MAP4K10.40794732
139LCK0.40213538
140PRKACA0.39976334
141CSNK1D0.39639715
142CSNK1A10.39181431
143PIK3CA0.38617896
144CDK90.38596071
145SYK0.37703810
146MAP3K130.37437113
147TLK10.37351296
148MINK10.37063231
149CAMK10.36990290
150MST40.36859893
151AKT20.36839928
152MAP3K80.36023748
153PKN10.35818322
154EGFR0.35727939
155VRK10.34920548
156MAP2K40.34399359
157PRKCD0.34328101
158MAP3K100.34161861
159CSNK1A1L0.33629002
160OBSCN0.33187310
161PIK3CG0.32783401
162CDC70.32167184
163GRK50.31455719
164NLK0.30936870
165PRKDC0.30316768
166TAOK30.29458138
167DYRK1A0.29421775
168SGK2230.28381676
169SGK4940.28381676
170STK40.26891848
171TESK10.26444884
172STK100.26218199
173PRKG20.26145425

Predicted pathways (KEGG)

RankGene SetZ-score
1Ascorbate and aldarate metabolism_Homo sapiens_hsa000534.23593364
2Pentose and glucuronate interconversions_Homo sapiens_hsa000402.92503202
3Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.70105086
4Protein export_Homo sapiens_hsa030602.66094599
5Nitrogen metabolism_Homo sapiens_hsa009102.56129052
6Staphylococcus aureus infection_Homo sapiens_hsa051502.45451433
7Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.41781988
8Phototransduction_Homo sapiens_hsa047442.39067219
9Selenocompound metabolism_Homo sapiens_hsa004502.29076294
10Maturity onset diabetes of the young_Homo sapiens_hsa049502.04188609
11Nicotine addiction_Homo sapiens_hsa050331.99377986
12Primary bile acid biosynthesis_Homo sapiens_hsa001201.90040001
13Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.88450106
14Base excision repair_Homo sapiens_hsa034101.79735084
15One carbon pool by folate_Homo sapiens_hsa006701.78578713
16Starch and sucrose metabolism_Homo sapiens_hsa005001.72655970
17Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.69808979
18Linoleic acid metabolism_Homo sapiens_hsa005911.69209465
19Complement and coagulation cascades_Homo sapiens_hsa046101.65222448
20Non-homologous end-joining_Homo sapiens_hsa034501.65100848
21Drug metabolism - other enzymes_Homo sapiens_hsa009831.64585113
22Oxidative phosphorylation_Homo sapiens_hsa001901.63295303
23Basal transcription factors_Homo sapiens_hsa030221.63048063
24DNA replication_Homo sapiens_hsa030301.61596032
25Homologous recombination_Homo sapiens_hsa034401.61443201
26Legionellosis_Homo sapiens_hsa051341.60708593
27Fatty acid degradation_Homo sapiens_hsa000711.60074841
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.51007784
29RNA polymerase_Homo sapiens_hsa030201.49541770
30Fatty acid biosynthesis_Homo sapiens_hsa000611.45848843
31PPAR signaling pathway_Homo sapiens_hsa033201.45575473
32Retinol metabolism_Homo sapiens_hsa008301.44569743
33Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.43676153
34Caffeine metabolism_Homo sapiens_hsa002321.42660420
35Ether lipid metabolism_Homo sapiens_hsa005651.40607934
36RNA degradation_Homo sapiens_hsa030181.40284625
37Tryptophan metabolism_Homo sapiens_hsa003801.37805123
38Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.36182091
39Fatty acid metabolism_Homo sapiens_hsa012121.33759974
40Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.33630792
41Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.33590322
42Glycosaminoglycan degradation_Homo sapiens_hsa005311.33432346
43Malaria_Homo sapiens_hsa051441.32517098
44Vitamin digestion and absorption_Homo sapiens_hsa049771.31676888
45Taste transduction_Homo sapiens_hsa047421.30716016
46Prion diseases_Homo sapiens_hsa050201.29215912
47Folate biosynthesis_Homo sapiens_hsa007901.25497816
48Histidine metabolism_Homo sapiens_hsa003401.22957624
49Apoptosis_Homo sapiens_hsa042101.21040325
50Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.20432176
51Parkinsons disease_Homo sapiens_hsa050121.14711311
52Steroid biosynthesis_Homo sapiens_hsa001001.14562300
53Morphine addiction_Homo sapiens_hsa050321.14152654
54Steroid hormone biosynthesis_Homo sapiens_hsa001401.13778491
55Arginine biosynthesis_Homo sapiens_hsa002201.12554712
56Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.08673083
57Peroxisome_Homo sapiens_hsa041461.07119578
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.05962812
59Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.05601635
60Insulin secretion_Homo sapiens_hsa049111.02752236
61* N-Glycan biosynthesis_Homo sapiens_hsa005101.01555996
62Glutamatergic synapse_Homo sapiens_hsa047240.98586587
63Leishmaniasis_Homo sapiens_hsa051400.98007720
64Huntingtons disease_Homo sapiens_hsa050160.96217267
65Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.95174853
66Circadian entrainment_Homo sapiens_hsa047130.93338166
67Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.92037820
68GABAergic synapse_Homo sapiens_hsa047270.91406477
69Pentose phosphate pathway_Homo sapiens_hsa000300.89957176
70Lysosome_Homo sapiens_hsa041420.89901052
71Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.89680056
72Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.89420464
73Olfactory transduction_Homo sapiens_hsa047400.89348252
74Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.87944308
75Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.87018835
76Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.85576659
77alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.85412139
78NOD-like receptor signaling pathway_Homo sapiens_hsa046210.85174313
79Phagosome_Homo sapiens_hsa041450.83954503
80Cardiac muscle contraction_Homo sapiens_hsa042600.83618914
81Nucleotide excision repair_Homo sapiens_hsa034200.83281277
82Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.82992531
83Notch signaling pathway_Homo sapiens_hsa043300.81518906
84Alzheimers disease_Homo sapiens_hsa050100.80888901
85Purine metabolism_Homo sapiens_hsa002300.80607711
86Butanoate metabolism_Homo sapiens_hsa006500.80438535
87Chemical carcinogenesis_Homo sapiens_hsa052040.79581580
88Vitamin B6 metabolism_Homo sapiens_hsa007500.79349927
89Central carbon metabolism in cancer_Homo sapiens_hsa052300.77582450
90Regulation of autophagy_Homo sapiens_hsa041400.77351873
91Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.76822263
92NF-kappa B signaling pathway_Homo sapiens_hsa040640.76252919
93Ovarian steroidogenesis_Homo sapiens_hsa049130.74563383
94beta-Alanine metabolism_Homo sapiens_hsa004100.74441072
95Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.73906044
96Glycerolipid metabolism_Homo sapiens_hsa005610.71410164
97TNF signaling pathway_Homo sapiens_hsa046680.70984965
98* Metabolic pathways_Homo sapiens_hsa011000.69428128
99ABC transporters_Homo sapiens_hsa020100.69162674
100Serotonergic synapse_Homo sapiens_hsa047260.68654239
101Cysteine and methionine metabolism_Homo sapiens_hsa002700.67766137
102Dopaminergic synapse_Homo sapiens_hsa047280.67659180
103Basal cell carcinoma_Homo sapiens_hsa052170.67294094
104Galactose metabolism_Homo sapiens_hsa000520.65883427
105Fanconi anemia pathway_Homo sapiens_hsa034600.65270983
106Dorso-ventral axis formation_Homo sapiens_hsa043200.64291072
107Salivary secretion_Homo sapiens_hsa049700.63948578
108Circadian rhythm_Homo sapiens_hsa047100.63062031
109Cell cycle_Homo sapiens_hsa041100.61772157
110Pyrimidine metabolism_Homo sapiens_hsa002400.61201776
111Proteasome_Homo sapiens_hsa030500.61121570
112Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.60042657
113Cyanoamino acid metabolism_Homo sapiens_hsa004600.59123149
114Mismatch repair_Homo sapiens_hsa034300.58165222
115Tuberculosis_Homo sapiens_hsa051520.58012038
116Glutathione metabolism_Homo sapiens_hsa004800.57094956
117Pertussis_Homo sapiens_hsa051330.56546346
118Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.56068294
119RNA transport_Homo sapiens_hsa030130.55937511
120Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.55431817
121Arginine and proline metabolism_Homo sapiens_hsa003300.55226236
122Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.55130317
123Pyruvate metabolism_Homo sapiens_hsa006200.54543929
124Bladder cancer_Homo sapiens_hsa052190.53620816
125Propanoate metabolism_Homo sapiens_hsa006400.53513337
126Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.53281424
127Intestinal immune network for IgA production_Homo sapiens_hsa046720.52841653
128Hematopoietic cell lineage_Homo sapiens_hsa046400.51670431
129Osteoclast differentiation_Homo sapiens_hsa043800.51608271
130Sulfur metabolism_Homo sapiens_hsa009200.50690704
131Hippo signaling pathway_Homo sapiens_hsa043900.50156965
132Fatty acid elongation_Homo sapiens_hsa000620.49789422
133Phenylalanine metabolism_Homo sapiens_hsa003600.48215793
134Toll-like receptor signaling pathway_Homo sapiens_hsa046200.48124021
135Fat digestion and absorption_Homo sapiens_hsa049750.47970390
136Calcium signaling pathway_Homo sapiens_hsa040200.46498564
137Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.45792727
138Shigellosis_Homo sapiens_hsa051310.45778703
139Lysine degradation_Homo sapiens_hsa003100.45480186
140Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45363015
141Biosynthesis of amino acids_Homo sapiens_hsa012300.43925206
142Axon guidance_Homo sapiens_hsa043600.42864702
143Cocaine addiction_Homo sapiens_hsa050300.42585306
144Arachidonic acid metabolism_Homo sapiens_hsa005900.41638559
145HTLV-I infection_Homo sapiens_hsa051660.40748878
146MicroRNAs in cancer_Homo sapiens_hsa052060.40679447
147Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.39034093
148Collecting duct acid secretion_Homo sapiens_hsa049660.38798158
149Oocyte meiosis_Homo sapiens_hsa041140.38183164
150Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.37564406
151AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.36674942
152Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.36191133
153Measles_Homo sapiens_hsa051620.35931688
154Hedgehog signaling pathway_Homo sapiens_hsa043400.35727401
155Sphingolipid metabolism_Homo sapiens_hsa006000.35603657

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