SIGLEC8

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: Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fucose catabolic process (GO:0019317)4.10120130
2L-fucose metabolic process (GO:0042354)4.10120130
3L-fucose catabolic process (GO:0042355)4.10120130
4epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.08449070
5behavioral response to nicotine (GO:0035095)4.02273512
6detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.01510799
7adaptation of signaling pathway (GO:0023058)3.79563385
8DNA deamination (GO:0045006)3.75466347
9detection of light stimulus involved in sensory perception (GO:0050962)3.56119041
10detection of light stimulus involved in visual perception (GO:0050908)3.56119041
11indolalkylamine metabolic process (GO:0006586)3.52366804
12response to pheromone (GO:0019236)3.49045736
13epithelial cilium movement (GO:0003351)3.37701187
14cellular ketone body metabolic process (GO:0046950)3.37641915
15protein K11-linked deubiquitination (GO:0035871)3.30655628
16protein polyglutamylation (GO:0018095)3.27284547
17axoneme assembly (GO:0035082)3.26562986
18indole-containing compound catabolic process (GO:0042436)3.22231624
19indolalkylamine catabolic process (GO:0046218)3.22231624
20tryptophan catabolic process (GO:0006569)3.22231624
21platelet dense granule organization (GO:0060155)3.20694988
22auditory receptor cell stereocilium organization (GO:0060088)3.17771604
23negative regulation of mast cell activation (GO:0033004)3.12887007
24neural tube formation (GO:0001841)3.12396214
25regulation of cilium movement (GO:0003352)3.10477612
26retinal cone cell development (GO:0046549)3.07771286
27water-soluble vitamin biosynthetic process (GO:0042364)3.05777793
28cilium or flagellum-dependent cell motility (GO:0001539)3.03176143
29ketone body metabolic process (GO:1902224)3.02595355
30behavioral response to ethanol (GO:0048149)3.01729643
31photoreceptor cell maintenance (GO:0045494)2.98797604
32thyroid hormone metabolic process (GO:0042403)2.93054743
33respiratory chain complex IV assembly (GO:0008535)2.92317772
34tryptophan metabolic process (GO:0006568)2.90595243
35regulation of memory T cell differentiation (GO:0043380)2.84165582
36piRNA metabolic process (GO:0034587)2.84154201
37negative regulation of telomere maintenance (GO:0032205)2.82069809
38negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.79428624
39negative regulation of translation, ncRNA-mediated (GO:0040033)2.79428624
40regulation of translation, ncRNA-mediated (GO:0045974)2.79428624
41cilium movement (GO:0003341)2.79392645
42kynurenine metabolic process (GO:0070189)2.76865873
43pyrimidine nucleobase catabolic process (GO:0006208)2.75123022
44establishment of protein localization to Golgi (GO:0072600)2.74720011
45signal peptide processing (GO:0006465)2.73609098
46phosphatidylinositol acyl-chain remodeling (GO:0036149)2.70480852
47regulation of neurotransmitter uptake (GO:0051580)2.70080474
48reflex (GO:0060004)2.68408137
49neuronal action potential (GO:0019228)2.67209008
50cilium morphogenesis (GO:0060271)2.66866194
51proline transport (GO:0015824)2.65576986
52preassembly of GPI anchor in ER membrane (GO:0016254)2.64464001
53cytochrome complex assembly (GO:0017004)2.63751995
54gamma-aminobutyric acid transport (GO:0015812)2.60089877
55neuronal action potential propagation (GO:0019227)2.59339942
56indole-containing compound metabolic process (GO:0042430)2.58950671
57negative regulation of cytosolic calcium ion concentration (GO:0051481)2.56341933
58protein-cofactor linkage (GO:0018065)2.55675641
59nucleobase catabolic process (GO:0046113)2.52438686
60male meiosis (GO:0007140)2.52310295
61replication fork processing (GO:0031297)2.51096431
62DNA double-strand break processing (GO:0000729)2.49952186
63DNA methylation involved in gamete generation (GO:0043046)2.49209451
64thyroid hormone generation (GO:0006590)2.48007968
65nonmotile primary cilium assembly (GO:0035058)2.47969639
66transmission of nerve impulse (GO:0019226)2.44639665
67cornea development in camera-type eye (GO:0061303)2.44531494
68dopamine transport (GO:0015872)2.43141913
69protein complex biogenesis (GO:0070271)2.42858551
70photoreceptor cell development (GO:0042461)2.42650875
71activated T cell proliferation (GO:0050798)2.41051391
72positive regulation of oligodendrocyte differentiation (GO:0048714)2.40656738
73mitochondrial respiratory chain complex I assembly (GO:0032981)2.39549019
74NADH dehydrogenase complex assembly (GO:0010257)2.39549019
75mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.39549019
76presynaptic membrane organization (GO:0097090)2.38740623
77inner ear receptor stereocilium organization (GO:0060122)2.38042062
78regulation of rhodopsin mediated signaling pathway (GO:0022400)2.36811480
79reciprocal meiotic recombination (GO:0007131)2.36547794
80reciprocal DNA recombination (GO:0035825)2.36547794
81tachykinin receptor signaling pathway (GO:0007217)2.36225035
82rhodopsin mediated signaling pathway (GO:0016056)2.35421438
83presynaptic membrane assembly (GO:0097105)2.35055014
84cilium organization (GO:0044782)2.33231172
85regulation of nuclear cell cycle DNA replication (GO:0033262)2.32408222
86sperm motility (GO:0030317)2.31380455
87regulation of collateral sprouting (GO:0048670)2.30467903
88amine catabolic process (GO:0009310)2.30421237
89cellular biogenic amine catabolic process (GO:0042402)2.30421237
90protein targeting to Golgi (GO:0000042)2.28784623
91sulfation (GO:0051923)2.28624948
92regulation of interleukin-6 biosynthetic process (GO:0045408)2.27958073
93positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.27236321
94primary amino compound metabolic process (GO:1901160)2.26923557
95ubiquinone biosynthetic process (GO:0006744)2.26623263
96RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.25942214
97G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.25485278
98kidney morphogenesis (GO:0060993)2.25248660
99detection of mechanical stimulus involved in sensory perception (GO:0050974)2.25073654
100positive regulation of meiosis (GO:0045836)2.24445433

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.66001213
2GBX2_23144817_ChIP-Seq_PC3_Human3.13464012
3VDR_22108803_ChIP-Seq_LS180_Human3.00959744
4IGF1R_20145208_ChIP-Seq_DFB_Human2.59088865
5ZFP57_27257070_Chip-Seq_ESCs_Mouse2.51769711
6EZH2_22144423_ChIP-Seq_EOC_Human2.49261796
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.44990929
8POU3F2_20337985_ChIP-ChIP_501MEL_Human2.42255059
9GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.34597230
10FLI1_27457419_Chip-Seq_LIVER_Mouse2.26781594
11CTBP2_25329375_ChIP-Seq_LNCAP_Human2.17739530
12CTBP1_25329375_ChIP-Seq_LNCAP_Human2.00294833
13SALL1_21062744_ChIP-ChIP_HESCs_Human1.99821545
14EWS_26573619_Chip-Seq_HEK293_Human1.96078113
15P300_19829295_ChIP-Seq_ESCs_Human1.95182782
16ER_23166858_ChIP-Seq_MCF-7_Human1.91831436
17TAF15_26573619_Chip-Seq_HEK293_Human1.86663735
18CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.86095708
19HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.85019091
20PCGF2_27294783_Chip-Seq_ESCs_Mouse1.81401313
21FUS_26573619_Chip-Seq_HEK293_Human1.79912502
22TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.77928104
23SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.74578850
24IRF8_22096565_ChIP-ChIP_GC-B_Human1.71950271
25BCAT_22108803_ChIP-Seq_LS180_Human1.69119030
26AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.66441869
27CBP_20019798_ChIP-Seq_JUKART_Human1.62731172
28IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.62731172
29STAT3_23295773_ChIP-Seq_U87_Human1.62348442
30EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.61770712
31UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.58768740
32PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.58592082
33SMAD4_21799915_ChIP-Seq_A2780_Human1.57410246
34* TCF4_23295773_ChIP-Seq_U87_Human1.52215718
35HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.51890556
36TP53_22573176_ChIP-Seq_HFKS_Human1.51672820
37MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.47376112
38AR_25329375_ChIP-Seq_VCAP_Human1.46781115
39IRF1_19129219_ChIP-ChIP_H3396_Human1.45863011
40PCGF2_27294783_Chip-Seq_NPCs_Mouse1.45517079
41PIAS1_25552417_ChIP-Seq_VCAP_Human1.44908230
42MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43994546
43SUZ12_27294783_Chip-Seq_NPCs_Mouse1.43204477
44NR3C1_21868756_ChIP-Seq_MCF10A_Human1.42150548
45E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.41664753
46TCF4_22108803_ChIP-Seq_LS180_Human1.41389175
47EZH2_27294783_Chip-Seq_NPCs_Mouse1.41253900
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40627195
49MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.40184896
50NFE2_27457419_Chip-Seq_LIVER_Mouse1.38187572
51NOTCH1_21737748_ChIP-Seq_TLL_Human1.35381635
52REST_21632747_ChIP-Seq_MESCs_Mouse1.33465971
53TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33426997
54POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.33426997
55NANOG_19829295_ChIP-Seq_ESCs_Human1.32674836
56SOX2_19829295_ChIP-Seq_ESCs_Human1.32674836
57RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.32467655
58SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31839237
59FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.31310036
60PRDM14_20953172_ChIP-Seq_ESCs_Human1.31078072
61GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.27952457
62RUNX2_22187159_ChIP-Seq_PCA_Human1.27012407
63SMAD3_21741376_ChIP-Seq_EPCs_Human1.26610440
64EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.26229305
65TOP2B_26459242_ChIP-Seq_MCF-7_Human1.25242677
66CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.24852094
67BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.23847841
68FLI1_21867929_ChIP-Seq_TH2_Mouse1.19545244
69OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18840575
70* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.18737353
71* FOXA1_25329375_ChIP-Seq_VCAP_Human1.18737353
72ETV2_25802403_ChIP-Seq_MESCs_Mouse1.17955170
73KLF5_20875108_ChIP-Seq_MESCs_Mouse1.16537072
74CRX_20693478_ChIP-Seq_RETINA_Mouse1.15275783
75PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.12941724
76* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.12901452
77NANOG_18555785_Chip-Seq_ESCs_Mouse1.12238513
78EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.11287639
79NCOR_22424771_ChIP-Seq_293T_Human1.09476203
80P53_22387025_ChIP-Seq_ESCs_Mouse1.08832139
81SMAD4_21741376_ChIP-Seq_EPCs_Human1.08008456
82TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07783441
83AR_21572438_ChIP-Seq_LNCaP_Human1.07472674
84CDX2_22108803_ChIP-Seq_LS180_Human1.07404923
85STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.07373500
86DROSHA_22980978_ChIP-Seq_HELA_Human1.06389620
87* GATA3_21878914_ChIP-Seq_MCF-7_Human1.04140474
88* AR_20517297_ChIP-Seq_VCAP_Human1.03654113
89SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.03554569
90TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02215277
91TP53_16413492_ChIP-PET_HCT116_Human1.01861489
92OCT4_21477851_ChIP-Seq_ESCs_Mouse1.01399717
93STAT3_18555785_Chip-Seq_ESCs_Mouse0.99968856
94LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.99411569
95EGR1_23403033_ChIP-Seq_LIVER_Mouse0.98840596
96TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.98413817
97SOX2_21211035_ChIP-Seq_LN229_Gbm0.97317580
98AUTS2_25519132_ChIP-Seq_293T-REX_Human0.95961550
99MYC_18940864_ChIP-ChIP_HL60_Human0.95130188
100BMI1_23680149_ChIP-Seq_NPCS_Mouse0.93916004

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis3.40229714
2MP0001986_abnormal_taste_sensitivity2.96559019
3MP0008877_abnormal_DNA_methylation2.77232074
4MP0000569_abnormal_digit_pigmentation2.53767218
5MP0005551_abnormal_eye_electrophysiolog2.48423310
6MP0001968_abnormal_touch/_nociception2.43742581
7MP0003787_abnormal_imprinting2.31066173
8MP0002876_abnormal_thyroid_physiology2.20020699
9MP0002736_abnormal_nociception_after2.19484659
10MP0002102_abnormal_ear_morphology2.16983459
11MP0003880_abnormal_central_pattern2.14963168
12MP0002653_abnormal_ependyma_morphology2.09894013
13MP0001984_abnormal_olfaction2.00460657
14MP0001485_abnormal_pinna_reflex1.96147942
15MP0005646_abnormal_pituitary_gland1.94750658
16MP0003646_muscle_fatigue1.94049871
17MP0008872_abnormal_physiological_respon1.88747121
18MP0001501_abnormal_sleep_pattern1.88445560
19MP0005645_abnormal_hypothalamus_physiol1.86137233
20MP0005253_abnormal_eye_physiology1.80458598
21MP0009745_abnormal_behavioral_response1.80293237
22MP0002837_dystrophic_cardiac_calcinosis1.70310724
23MP0000427_abnormal_hair_cycle1.69014837
24MP0009046_muscle_twitch1.68697454
25MP0005671_abnormal_response_to1.66140909
26MP0005167_abnormal_blood-brain_barrier1.65569908
27MP0004885_abnormal_endolymph1.64762025
28MP0003878_abnormal_ear_physiology1.63627101
29MP0005377_hearing/vestibular/ear_phenot1.63627101
30MP0001486_abnormal_startle_reflex1.62429760
31MP0006292_abnormal_olfactory_placode1.60061161
32MP0004043_abnormal_pH_regulation1.58839101
33MP0006072_abnormal_retinal_apoptosis1.58344498
34MP0005174_abnormal_tail_pigmentation1.57749001
35MP0002272_abnormal_nervous_system1.56056386
36MP0004142_abnormal_muscle_tone1.53317814
37MP0000372_irregular_coat_pigmentation1.46252763
38MP0005084_abnormal_gallbladder_morpholo1.46024768
39MP0000631_abnormal_neuroendocrine_gland1.39457219
40MP0002064_seizures1.38877499
41MP0003136_yellow_coat_color1.37184226
42MP0008995_early_reproductive_senescence1.33161350
43MP0008875_abnormal_xenobiotic_pharmacok1.27507171
44MP0002572_abnormal_emotion/affect_behav1.27303322
45MP0006276_abnormal_autonomic_nervous1.24855414
46MP0002735_abnormal_chemical_nociception1.24560965
47MP0004742_abnormal_vestibular_system1.19998893
48MP0002928_abnormal_bile_duct1.18174244
49MP0001970_abnormal_pain_threshold1.15612262
50MP0004133_heterotaxia1.12753416
51MP0001529_abnormal_vocalization1.12555848
52MP0002733_abnormal_thermal_nociception1.11396456
53MP0003635_abnormal_synaptic_transmissio1.10183594
54MP0003011_delayed_dark_adaptation1.10045577
55MP0002909_abnormal_adrenal_gland1.08481328
56MP0005386_behavior/neurological_phenoty1.07862016
57MP0004924_abnormal_behavior1.07862016
58MP0005075_abnormal_melanosome_morpholog1.07107603
59MP0005379_endocrine/exocrine_gland_phen1.06100281
60MP0002638_abnormal_pupillary_reflex1.05942398
61MP0002557_abnormal_social/conspecific_i1.05805958
62MP0002163_abnormal_gland_morphology1.04135524
63MP0002067_abnormal_sensory_capabilities1.03027783
64MP0000015_abnormal_ear_pigmentation0.97156293
65MP0001835_abnormal_antigen_presentation0.97065762
66MP0003724_increased_susceptibility_to0.96355681
67MP0001764_abnormal_homeostasis0.95961081
68MP0002095_abnormal_skin_pigmentation0.94168391
69MP0002063_abnormal_learning/memory/cond0.93594516
70MP0002229_neurodegeneration0.93519413
71MP0002938_white_spotting0.90975711
72MP0000230_abnormal_systemic_arterial0.89048998
73MP0002734_abnormal_mechanical_nocicepti0.88650303
74MP0003121_genomic_imprinting0.88437122
75MP0002277_abnormal_respiratory_mucosa0.86842864
76MP0009764_decreased_sensitivity_to0.86322982
77MP0002693_abnormal_pancreas_physiology0.86021445
78MP0005085_abnormal_gallbladder_physiolo0.85872182
79MP0005195_abnormal_posterior_eye0.85590451
80MP0000685_abnormal_immune_system0.85498503
81MP0005387_immune_system_phenotype0.85457919
82MP0001790_abnormal_immune_system0.85457919
83MP0001905_abnormal_dopamine_level0.84852754
84MP0006082_CNS_inflammation0.84779072
85MP0003718_maternal_effect0.84438560
86MP0001963_abnormal_hearing_physiology0.82666975
87MP0004147_increased_porphyrin_level0.80347579
88MP0008775_abnormal_heart_ventricle0.80021322
89MP0005389_reproductive_system_phenotype0.79456078
90MP0003698_abnormal_male_reproductive0.78543719
91MP0005410_abnormal_fertilization0.77853213
92MP0008058_abnormal_DNA_repair0.76349255
93MP0001324_abnormal_eye_pigmentation0.76278820
94MP0003633_abnormal_nervous_system0.74324100
95MP0005647_abnormal_sex_gland0.74193702
96MP0001800_abnormal_humoral_immune0.73329161
97MP0001929_abnormal_gametogenesis0.72982726
98MP0005310_abnormal_salivary_gland0.71756462
99MP0000383_abnormal_hair_follicle0.71591241
100MP0003252_abnormal_bile_duct0.70625497

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.51766608
2Pancreatic fibrosis (HP:0100732)4.22014044
3True hermaphroditism (HP:0010459)3.84908386
4Abnormality of midbrain morphology (HP:0002418)3.60174815
5Molar tooth sign on MRI (HP:0002419)3.60174815
6Hyperventilation (HP:0002883)3.46195416
7Abnormality of the renal cortex (HP:0011035)3.41474482
8Nephronophthisis (HP:0000090)3.36067907
9Congenital stationary night blindness (HP:0007642)3.31015876
10Abnormality of the renal medulla (HP:0100957)3.06446645
11Type II lissencephaly (HP:0007260)3.02510349
12Medial flaring of the eyebrow (HP:0010747)2.92935281
13Attenuation of retinal blood vessels (HP:0007843)2.88718099
14Cystic liver disease (HP:0006706)2.84355747
15Abolished electroretinogram (ERG) (HP:0000550)2.80059997
16Polydipsia (HP:0001959)2.76848354
17Abnormal drinking behavior (HP:0030082)2.76848354
18Renal cortical cysts (HP:0000803)2.72553226
19Gaze-evoked nystagmus (HP:0000640)2.68950241
20Abnormal biliary tract physiology (HP:0012439)2.61582707
21Bile duct proliferation (HP:0001408)2.61582707
22Inability to walk (HP:0002540)2.58291943
23Stomach cancer (HP:0012126)2.57336632
24Congenital hepatic fibrosis (HP:0002612)2.43827847
253-Methylglutaconic aciduria (HP:0003535)2.41601628
26Chronic hepatic failure (HP:0100626)2.38658346
27Tubular atrophy (HP:0000092)2.37694142
28Progressive inability to walk (HP:0002505)2.34629380
29Absent speech (HP:0001344)2.34079219
30Abnormal delayed hypersensitivity skin test (HP:0002963)2.31298093
31Febrile seizures (HP:0002373)2.30844237
32Stomatitis (HP:0010280)2.29732660
33Decreased circulating renin level (HP:0003351)2.28969160
34Dynein arm defect of respiratory motile cilia (HP:0012255)2.27862522
35Absent/shortened dynein arms (HP:0200106)2.27862522
36Gait imbalance (HP:0002141)2.24690616
37Broad-based gait (HP:0002136)2.24353251
38Pendular nystagmus (HP:0012043)2.22097498
39Thyroiditis (HP:0100646)2.20639406
40Polyuria (HP:0000103)2.18690945
41Congenital sensorineural hearing impairment (HP:0008527)2.18682777
42Congenital primary aphakia (HP:0007707)2.18392765
43Progressive cerebellar ataxia (HP:0002073)2.14479316
44Abnormal rod and cone electroretinograms (HP:0008323)2.11780871
45Progressive macrocephaly (HP:0004481)2.08713972
46Focal motor seizures (HP:0011153)2.08458158
47Sclerocornea (HP:0000647)2.07786988
48Aplasia/Hypoplasia of the tongue (HP:0010295)2.06295691
49Increased corneal curvature (HP:0100692)2.05657575
50Keratoconus (HP:0000563)2.05657575
51Nephrogenic diabetes insipidus (HP:0009806)2.01200726
52Furrowed tongue (HP:0000221)2.00465111
53Anencephaly (HP:0002323)2.00023777
54Cerebellar dysplasia (HP:0007033)1.99417458
55Oligodactyly (hands) (HP:0001180)1.96919375
56Lissencephaly (HP:0001339)1.96596593
57Aplasia/Hypoplasia of the tibia (HP:0005772)1.96177696
58Recurrent cutaneous fungal infections (HP:0011370)1.96133651
59Chronic mucocutaneous candidiasis (HP:0002728)1.96133651
60Absent rod-and cone-mediated responses on ERG (HP:0007688)1.95419462
61Hemiparesis (HP:0001269)1.93010622
62Postaxial foot polydactyly (HP:0001830)1.93007246
63Male pseudohermaphroditism (HP:0000037)1.92467113
64Acute necrotizing encephalopathy (HP:0006965)1.89498142
65Clubbing of toes (HP:0100760)1.89353755
66Intestinal atresia (HP:0011100)1.88097692
67Pachygyria (HP:0001302)1.87205099
68Genital tract atresia (HP:0001827)1.87043690
69Aplasia/Hypoplasia of the uvula (HP:0010293)1.86902059
70Bony spicule pigmentary retinopathy (HP:0007737)1.86148644
71Constricted visual fields (HP:0001133)1.85574179
72Abnormality of the pons (HP:0007361)1.85550856
73Protruding tongue (HP:0010808)1.85428735
74Hypoplasia of the pons (HP:0012110)1.85053057
75Thyroid-stimulating hormone excess (HP:0002925)1.84408263
76Decreased central vision (HP:0007663)1.83290906
77Abnormal respiratory epithelium morphology (HP:0012253)1.83173676
78Abnormal respiratory motile cilium morphology (HP:0005938)1.83173676
79Genetic anticipation (HP:0003743)1.82578618
80Fair hair (HP:0002286)1.82430104
81Widely spaced teeth (HP:0000687)1.82285984
82Focal seizures (HP:0007359)1.81841258
83Abnormal ciliary motility (HP:0012262)1.81668046
84Abnormality of the renal collecting system (HP:0004742)1.81414851
85Ketosis (HP:0001946)1.81013748
86Large for gestational age (HP:0001520)1.79820164
87Hypothermia (HP:0002045)1.79777425
88Methylmalonic aciduria (HP:0012120)1.79759354
89Hypomagnesemia (HP:0002917)1.79315397
90Hypoproteinemia (HP:0003075)1.77296485
91Mitochondrial inheritance (HP:0001427)1.76165200
92Decreased electroretinogram (ERG) amplitude (HP:0000654)1.73955963
93Duplicated collecting system (HP:0000081)1.73136216
94Increased CSF lactate (HP:0002490)1.72934259
95Abnormal urine output (HP:0012590)1.71897580
96Postaxial hand polydactyly (HP:0001162)1.71818711
97Ketoacidosis (HP:0001993)1.71781570
98Methylmalonic acidemia (HP:0002912)1.71712433
99Dialeptic seizures (HP:0011146)1.71547725
100Astigmatism (HP:0000483)1.71404306

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.29630959
2TAOK33.74265751
3BMPR1B2.62552357
4ADRBK22.60299974
5MAP4K22.59240542
6TXK2.55073342
7NUAK12.52290617
8WNK32.42679043
9ZAK2.27712847
10CASK2.25779860
11PINK12.07356976
12GRK12.05942868
13MAPK131.75402092
14ACVR1B1.62907960
15MAP4K11.59486541
16TNIK1.58036934
17WNK41.51214347
18INSRR1.49722590
19OXSR11.49682857
20DAPK21.41103850
21TNK21.36530672
22MAP3K41.20617013
23BCKDK1.19824443
24TLK11.13785199
25EPHA31.09470606
26ADRBK11.05324312
27PAK31.04137448
28DYRK21.03121894
29VRK11.02582603
30CAMKK21.00886802
31TIE10.99998374
32STK390.96862729
33TEC0.93836845
34PRKCE0.90656737
35MARK10.89236176
36MKNK20.84846527
37KIT0.81553865
38PTK2B0.81067109
39TGFBR20.79421703
40STK38L0.79380208
41NLK0.76114073
42PRKCG0.74667100
43PLK20.74630074
44FGFR20.73903866
45NTRK30.71227870
46EPHA40.71218544
47GRK50.70122076
48TRIM280.69681943
49PHKG20.68400438
50PHKG10.68400438
51SYK0.67493857
52PRKCQ0.67009655
53BCR0.65743503
54IKBKB0.65198584
55STK110.65090918
56ITK0.64816382
57PKN10.62874285
58BLK0.62420383
59IRAK10.61627302
60GRK70.60587735
61TGFBR10.60040826
62CSNK1G10.59968164
63CSF1R0.59956438
64MARK30.59503328
65VRK20.58438780
66FER0.58151537
67MAP2K70.58130214
68CAMK10.57757944
69CSNK1G20.57691829
70PLK30.55862074
71FES0.53868990
72CAMK2A0.53654015
73LYN0.50336288
74PRKAA20.50056913
75PNCK0.49688636
76STK30.49325470
77MST40.48677033
78SGK20.48577526
79PIK3CA0.48177134
80NTRK20.46106943
81BRSK20.45799251
82CSNK1G30.45787508
83PRKACA0.43083309
84LCK0.41567277
85PRKG10.41140970
86HCK0.40069992
87CSNK1A1L0.39371101
88MAP3K70.38877976
89SGK10.37855316
90PRKCZ0.35764048
91NME10.35205230
92RPS6KA50.35032438
93PRKCA0.34821824
94PDK20.34721346
95AKT30.33906199
96PRKCH0.33364569
97CSNK1A10.33183406
98CCNB10.32840517
99IRAK40.32511699
100CDK190.30821621

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047442.90371861
2Butanoate metabolism_Homo sapiens_hsa006502.63089289
3Linoleic acid metabolism_Homo sapiens_hsa005912.55036432
4alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.43674996
5Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.38788900
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.21412054
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.11913782
8Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.08569908
9Nicotine addiction_Homo sapiens_hsa050332.08097216
10Nitrogen metabolism_Homo sapiens_hsa009102.05394409
11Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.04427304
12Ether lipid metabolism_Homo sapiens_hsa005651.92335897
13Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.91627706
14Maturity onset diabetes of the young_Homo sapiens_hsa049501.80170996
15Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.75357937
16Tryptophan metabolism_Homo sapiens_hsa003801.58549037
17Morphine addiction_Homo sapiens_hsa050321.57992173
18Propanoate metabolism_Homo sapiens_hsa006401.52043406
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.50477911
20Oxidative phosphorylation_Homo sapiens_hsa001901.47612067
21Regulation of autophagy_Homo sapiens_hsa041401.47487113
22Primary bile acid biosynthesis_Homo sapiens_hsa001201.43822727
23Caffeine metabolism_Homo sapiens_hsa002321.42437928
24Homologous recombination_Homo sapiens_hsa034401.42358770
25Fanconi anemia pathway_Homo sapiens_hsa034601.40136705
26Taste transduction_Homo sapiens_hsa047421.38481851
27Protein export_Homo sapiens_hsa030601.36208404
28Selenocompound metabolism_Homo sapiens_hsa004501.35796693
29Type I diabetes mellitus_Homo sapiens_hsa049401.34721249
30Intestinal immune network for IgA production_Homo sapiens_hsa046721.30445579
31Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.30099762
32Insulin secretion_Homo sapiens_hsa049111.28659864
33Primary immunodeficiency_Homo sapiens_hsa053401.28587843
34Olfactory transduction_Homo sapiens_hsa047401.24058032
35ABC transporters_Homo sapiens_hsa020101.23957275
36Circadian entrainment_Homo sapiens_hsa047131.22900385
37Graft-versus-host disease_Homo sapiens_hsa053321.22053970
38Asthma_Homo sapiens_hsa053101.21780636
39Basal transcription factors_Homo sapiens_hsa030221.19434688
40Glutamatergic synapse_Homo sapiens_hsa047241.17750897
41Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.17421510
42Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.16774499
43Allograft rejection_Homo sapiens_hsa053301.14333734
44Staphylococcus aureus infection_Homo sapiens_hsa051501.12567304
45Arachidonic acid metabolism_Homo sapiens_hsa005901.11310701
46Steroid hormone biosynthesis_Homo sapiens_hsa001401.09859887
47GABAergic synapse_Homo sapiens_hsa047271.09782383
48Peroxisome_Homo sapiens_hsa041461.09467748
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.07827177
50Serotonergic synapse_Homo sapiens_hsa047261.06725521
51Salivary secretion_Homo sapiens_hsa049701.04116119
52Non-homologous end-joining_Homo sapiens_hsa034501.02353374
53Ovarian steroidogenesis_Homo sapiens_hsa049130.99990851
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.99523440
55Autoimmune thyroid disease_Homo sapiens_hsa053200.99250028
56Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.96887479
57Collecting duct acid secretion_Homo sapiens_hsa049660.95341231
58Parkinsons disease_Homo sapiens_hsa050120.95234219
59Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.93814228
60Retinol metabolism_Homo sapiens_hsa008300.91233273
61Chemical carcinogenesis_Homo sapiens_hsa052040.90695886
62RNA polymerase_Homo sapiens_hsa030200.90218590
63RNA degradation_Homo sapiens_hsa030180.83324240
64Glycerolipid metabolism_Homo sapiens_hsa005610.82855153
65SNARE interactions in vesicular transport_Homo sapiens_hsa041300.81928030
66Calcium signaling pathway_Homo sapiens_hsa040200.81028340
67beta-Alanine metabolism_Homo sapiens_hsa004100.78707109
68Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.73848072
69Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.71905801
70Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.63815564
71Fat digestion and absorption_Homo sapiens_hsa049750.61302720
72Long-term depression_Homo sapiens_hsa047300.60905854
73Mineral absorption_Homo sapiens_hsa049780.58439640
74One carbon pool by folate_Homo sapiens_hsa006700.57888031
75Huntingtons disease_Homo sapiens_hsa050160.55788726
76Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.55573498
77Renin secretion_Homo sapiens_hsa049240.53877788
78Alzheimers disease_Homo sapiens_hsa050100.53809398
79Vascular smooth muscle contraction_Homo sapiens_hsa042700.52072660
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.50309507
81Carbohydrate digestion and absorption_Homo sapiens_hsa049730.49939678
82Hematopoietic cell lineage_Homo sapiens_hsa046400.49191889
83Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.48966647
84Dopaminergic synapse_Homo sapiens_hsa047280.48581478
85Rheumatoid arthritis_Homo sapiens_hsa053230.46231804
86Glycerophospholipid metabolism_Homo sapiens_hsa005640.45761575
87Antigen processing and presentation_Homo sapiens_hsa046120.45061435
88Purine metabolism_Homo sapiens_hsa002300.44925476
89Gastric acid secretion_Homo sapiens_hsa049710.44848344
90Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.43452554
91Jak-STAT signaling pathway_Homo sapiens_hsa046300.43426615
92Pancreatic secretion_Homo sapiens_hsa049720.43199204
93African trypanosomiasis_Homo sapiens_hsa051430.42215916
94Metabolic pathways_Homo sapiens_hsa011000.42103923
95Histidine metabolism_Homo sapiens_hsa003400.39890149
96Fatty acid degradation_Homo sapiens_hsa000710.39442877
97NOD-like receptor signaling pathway_Homo sapiens_hsa046210.39281605
98Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.38679196
99Dorso-ventral axis formation_Homo sapiens_hsa043200.36681223
100Cholinergic synapse_Homo sapiens_hsa047250.35703644

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