NYX

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: The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1detection of light stimulus involved in sensory perception (GO:0050962)9.33162618
2detection of light stimulus involved in visual perception (GO:0050908)9.33162618
3negative regulation of cytosolic calcium ion concentration (GO:0051481)7.59694197
4G-protein coupled glutamate receptor signaling pathway (GO:0007216)7.32666463
5relaxation of smooth muscle (GO:0044557)6.48721517
6retinal rod cell development (GO:0046548)6.13555700
7retinal cone cell development (GO:0046549)5.41381838
8response to pheromone (GO:0019236)5.19146060
9response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.92652741
10response to host immune response (GO:0052572)4.92652741
11response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.73745599
12response to host (GO:0075136)4.73745599
13response to host defenses (GO:0052200)4.73745599
14dentate gyrus development (GO:0021542)4.22532715
15eye photoreceptor cell development (GO:0042462)4.15503995
16photoreceptor cell development (GO:0042461)3.93774866
17regulation of synapse maturation (GO:0090128)3.93523459
18atrial cardiac muscle cell action potential (GO:0086014)3.76841770
19positive regulation of cell cycle checkpoint (GO:1901978)3.75711766
20regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)3.71682303
21positive regulation of synapse maturation (GO:0090129)3.63042650
22positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.56234443
23pyrimidine dimer repair (GO:0006290)3.53944928
24calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.51775936
25behavioral response to ethanol (GO:0048149)3.45143360
26calcium ion import (GO:0070509)3.43734285
27sodium ion export (GO:0071436)3.43524748
28positive regulation of calcium ion import (GO:0090280)3.42040338
29male sex determination (GO:0030238)3.38540200
30gamma-aminobutyric acid signaling pathway (GO:0007214)3.36317431
31striatum development (GO:0021756)3.35448948
32protein-chromophore linkage (GO:0018298)3.30095910
33regulation of chemokine-mediated signaling pathway (GO:0070099)3.29140484
34detection of other organism (GO:0098543)3.28702828
35synaptic vesicle endocytosis (GO:0048488)3.24030446
36regulation of sarcomere organization (GO:0060297)3.23656355
37detection of bacterium (GO:0016045)3.22607945
38negative regulation of translation, ncRNA-mediated (GO:0040033)3.12573562
39regulation of translation, ncRNA-mediated (GO:0045974)3.12573562
40negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.12573562
41glutamate receptor signaling pathway (GO:0007215)3.10889109
42positive regulation of dendritic spine morphogenesis (GO:0061003)3.08498498
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.08251292
44hepatocyte differentiation (GO:0070365)3.06633408
45neurotransmitter-gated ion channel clustering (GO:0072578)3.05460924
46innervation (GO:0060384)2.99446497
47single strand break repair (GO:0000012)2.96301629
48potassium ion homeostasis (GO:0055075)2.90480313
49cellular potassium ion homeostasis (GO:0030007)2.89549850
50photoreceptor cell maintenance (GO:0045494)2.89321324
51urinary tract smooth muscle contraction (GO:0014848)2.88322082
52synapse assembly (GO:0007416)2.86236046
53regulation of bile acid biosynthetic process (GO:0070857)2.84918250
54rhodopsin mediated signaling pathway (GO:0016056)2.81355325
55G-protein coupled receptor internalization (GO:0002031)2.81176099
56embryonic retina morphogenesis in camera-type eye (GO:0060059)2.76706712
57regulation of male gonad development (GO:2000018)2.74028184
58positive regulation of CREB transcription factor activity (GO:0032793)2.73510931
59peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.73049305
60positive regulation of male gonad development (GO:2000020)2.71140365
61regulation of synaptic transmission, glutamatergic (GO:0051966)2.71103594
62regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.68710128
63regulation of rhodopsin mediated signaling pathway (GO:0022400)2.67280005
64heart field specification (GO:0003128)2.67074712
65secondary heart field specification (GO:0003139)2.67074712
66cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.66438262
67long term synaptic depression (GO:0060292)2.64113202
68inner ear receptor stereocilium organization (GO:0060122)2.63399023
69energy homeostasis (GO:0097009)2.61613764
70regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.61519788
71membrane depolarization during action potential (GO:0086010)2.61154072
72RNA localization (GO:0006403)2.60814491
73superoxide anion generation (GO:0042554)2.58227642
74regulation of short-term neuronal synaptic plasticity (GO:0048172)2.57948198
75regulation of regulatory T cell differentiation (GO:0045589)2.55393481
76histone H3-K4 trimethylation (GO:0080182)2.54411735
77outflow tract septum morphogenesis (GO:0003148)2.53339872
78nitric oxide mediated signal transduction (GO:0007263)2.52503628
79venous blood vessel morphogenesis (GO:0048845)2.50184813
80* sensory perception of light stimulus (GO:0050953)2.48456265
81* visual perception (GO:0007601)2.48002307
82negative regulation of thymocyte apoptotic process (GO:0070244)2.47934509
83adenosine metabolic process (GO:0046085)2.46154166
84long-term synaptic potentiation (GO:0060291)2.42463211
85synaptic vesicle exocytosis (GO:0016079)2.40749598
86microtubule depolymerization (GO:0007019)2.39918083
87phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.36041228
88homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156)2.35007133
89positive regulation of cellular amide metabolic process (GO:0034250)2.34735252
90cerebellar Purkinje cell differentiation (GO:0021702)2.34288444
91potassium ion transmembrane transport (GO:0071805)2.34152353
92cellular potassium ion transport (GO:0071804)2.34152353
93neural tube formation (GO:0001841)2.32981689
94histone H3-K4 methylation (GO:0051568)2.32370113
95negative regulation of telomere maintenance (GO:0032205)2.31284329
96regulation of memory T cell differentiation (GO:0043380)2.31212075
97relaxation of muscle (GO:0090075)2.30252034
98retina development in camera-type eye (GO:0060041)2.29594631
99cellular response to zinc ion (GO:0071294)2.29318093
100deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.28866809

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human4.26572231
2GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.67350765
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.99687940
4ZFP57_27257070_Chip-Seq_ESCs_Mouse2.96192784
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.79559887
6ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.51905843
7SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.49164169
8SMAD_19615063_ChIP-ChIP_OVARY_Human2.44197835
9PCGF2_27294783_Chip-Seq_ESCs_Mouse2.33145392
10AR_21572438_ChIP-Seq_LNCaP_Human2.27894362
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.23350125
12BMI1_23680149_ChIP-Seq_NPCS_Mouse2.17697850
13SUZ12_27294783_Chip-Seq_NPCs_Mouse2.14263507
14POU3F2_20337985_ChIP-ChIP_501MEL_Human2.03820671
15NFE2_27457419_Chip-Seq_LIVER_Mouse2.03778699
16IGF1R_20145208_ChIP-Seq_DFB_Human2.02329037
17PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.86745025
18TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.85640720
19PCGF2_27294783_Chip-Seq_NPCs_Mouse1.85393336
20VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.83894227
21TAF15_26573619_Chip-Seq_HEK293_Human1.83022288
22FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.81363266
23SMAD4_21799915_ChIP-Seq_A2780_Human1.78131575
24EZH2_27294783_Chip-Seq_NPCs_Mouse1.77006792
25CBX2_27304074_Chip-Seq_ESCs_Mouse1.76778291
26P300_19829295_ChIP-Seq_ESCs_Human1.75793987
27P53_22127205_ChIP-Seq_FIBROBLAST_Human1.75532287
28SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.75202724
29BP1_19119308_ChIP-ChIP_Hs578T_Human1.75125529
30EZH2_27304074_Chip-Seq_ESCs_Mouse1.73763718
31NANOG_18555785_Chip-Seq_ESCs_Mouse1.72230663
32SUZ12_18555785_Chip-Seq_ESCs_Mouse1.69787677
33E2F1_18555785_Chip-Seq_ESCs_Mouse1.67700453
34EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.66951212
35RNF2_27304074_Chip-Seq_NSC_Mouse1.65304103
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.64576336
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.63803831
38* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.63396492
39REST_21632747_ChIP-Seq_MESCs_Mouse1.62795451
40SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.58431035
41STAT3_18555785_Chip-Seq_ESCs_Mouse1.58367110
42P53_22387025_ChIP-Seq_ESCs_Mouse1.55883712
43DROSHA_22980978_ChIP-Seq_HELA_Human1.55051795
44SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.53484735
45CMYC_18555785_Chip-Seq_ESCs_Mouse1.49906023
46FUS_26573619_Chip-Seq_HEK293_Human1.47160082
47RUNX1_27457419_Chip-Seq_LIVER_Mouse1.46707816
48JARID2_20075857_ChIP-Seq_MESCs_Mouse1.46198429
49MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.45723775
50* RNF2_27304074_Chip-Seq_ESCs_Mouse1.45648668
51SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.43138815
52NMYC_18555785_Chip-Seq_ESCs_Mouse1.41557492
53STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.40833753
54CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.40584071
55TP63_19390658_ChIP-ChIP_HaCaT_Human1.39920910
56P300_18555785_Chip-Seq_ESCs_Mouse1.39639519
57* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.39526142
58PU1_27457419_Chip-Seq_LIVER_Mouse1.39230664
59CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.38795271
60* EZH2_27294783_Chip-Seq_ESCs_Mouse1.38688397
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.38396476
62TCF4_23295773_ChIP-Seq_U87_Human1.38263509
63EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.38227756
64EED_16625203_ChIP-ChIP_MESCs_Mouse1.36833000
65SOX2_18555785_Chip-Seq_ESCs_Mouse1.36033990
66PIAS1_25552417_ChIP-Seq_VCAP_Human1.35083591
67OCT4_18555785_Chip-Seq_ESCs_Mouse1.35030292
68BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.34908980
69ZFX_18555785_Chip-Seq_ESCs_Mouse1.34869322
70ESRRB_18555785_Chip-Seq_ESCs_Mouse1.33391168
71AR_25329375_ChIP-Seq_VCAP_Human1.32631135
72SUZ12_27294783_Chip-Seq_ESCs_Mouse1.32274254
73KLF4_18555785_Chip-Seq_ESCs_Mouse1.30622386
74SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.29686859
75EWS_26573619_Chip-Seq_HEK293_Human1.28775486
76UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.28003400
77STAT3_23295773_ChIP-Seq_U87_Human1.27840703
78CTCF_18555785_Chip-Seq_ESCs_Mouse1.25960426
79OCT4_21477851_ChIP-Seq_ESCs_Mouse1.23999249
80ER_23166858_ChIP-Seq_MCF-7_Human1.22318604
81FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.21684108
82CRX_20693478_ChIP-Seq_RETINA_Mouse1.21180701
83NOTCH1_21737748_ChIP-Seq_TLL_Human1.21157033
84SMAD1_18555785_Chip-Seq_ESCs_Mouse1.20658656
85SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.20524302
86RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20370837
87TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19488348
88POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.19488348
89AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.15665396
90MTF2_20144788_ChIP-Seq_MESCs_Mouse1.14416047
91EZH2_22144423_ChIP-Seq_EOC_Human1.14358908
92LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14173197
93EZH2_18974828_ChIP-Seq_MESCs_Mouse1.11295219
94RNF2_18974828_ChIP-Seq_MESCs_Mouse1.11295219
95YAP1_20516196_ChIP-Seq_MESCs_Mouse1.10739414
96TAL1_26923725_Chip-Seq_HPCs_Mouse1.10485744
97SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.09432120
98RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.07615996
99KDM2B_26808549_Chip-Seq_REH_Human1.06333749
100TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03398164

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005551_abnormal_eye_electrophysiolog4.88678445
2MP0001188_hyperpigmentation4.66800653
3MP0006292_abnormal_olfactory_placode4.11403461
4MP0006072_abnormal_retinal_apoptosis3.77900846
5MP0001346_abnormal_lacrimal_gland3.73616273
6MP0001984_abnormal_olfaction3.26114906
7MP0005248_abnormal_Harderian_gland3.22163060
8MP0000566_synostosis3.21339493
9MP0001502_abnormal_circadian_rhythm3.15308425
10MP0004782_abnormal_surfactant_physiolog3.12300660
11MP0005253_abnormal_eye_physiology2.92846220
12MP0003787_abnormal_imprinting2.87209050
13MP0005645_abnormal_hypothalamus_physiol2.74997591
14* MP0002090_abnormal_vision2.52029465
15MP0005646_abnormal_pituitary_gland2.49181907
16MP0002638_abnormal_pupillary_reflex2.37452178
17MP0008058_abnormal_DNA_repair2.11490588
18MP0005195_abnormal_posterior_eye1.89940226
19MP0002277_abnormal_respiratory_mucosa1.74573123
20MP0001324_abnormal_eye_pigmentation1.73211444
21MP0008775_abnormal_heart_ventricle1.72164601
22MP0010386_abnormal_urinary_bladder1.67965670
23MP0008004_abnormal_stomach_pH1.67432191
24MP0009046_muscle_twitch1.61499398
25MP0008260_abnormal_autophagy1.57114038
26MP0000631_abnormal_neuroendocrine_gland1.56484089
27MP0001486_abnormal_startle_reflex1.55138633
28MP0005409_darkened_coat_color1.50043250
29MP0004233_abnormal_muscle_weight1.47788686
30MP0001968_abnormal_touch/_nociception1.47354492
31MP0009697_abnormal_copulation1.45586936
32MP0002736_abnormal_nociception_after1.44810162
33MP0010368_abnormal_lymphatic_system1.35018844
34MP0002752_abnormal_somatic_nervous1.30567752
35MP0005391_vision/eye_phenotype1.27478229
36MP0005595_abnormal_vascular_smooth1.27012758
37MP0004381_abnormal_hair_follicle1.24414387
38MP0003950_abnormal_plasma_membrane1.23079085
39MP0009764_decreased_sensitivity_to1.20773250
40MP0002184_abnormal_innervation1.19987054
41MP0002067_abnormal_sensory_capabilities1.11342093
42MP0004742_abnormal_vestibular_system1.10848971
43MP0010094_abnormal_chromosome_stability1.06682920
44MP0008877_abnormal_DNA_methylation1.06606722
45MP0003646_muscle_fatigue1.04966193
46MP0005451_abnormal_body_composition1.04671008
47MP0005671_abnormal_response_to1.00021949
48MP0003941_abnormal_skin_development0.98363559
49MP0009745_abnormal_behavioral_response0.96685590
50MP0002148_abnormal_hypersensitivity_rea0.96557207
51MP0008007_abnormal_cellular_replicative0.95664831
52MP0002822_catalepsy0.95275941
53MP0002064_seizures0.94087946
54MP0002102_abnormal_ear_morphology0.93392329
55MP0002332_abnormal_exercise_endurance0.90996054
56MP0002229_neurodegeneration0.90783022
57MP0010030_abnormal_orbit_morphology0.85522547
58MP0005367_renal/urinary_system_phenotyp0.85469725
59MP0000516_abnormal_urinary_system0.85469725
60MP0003011_delayed_dark_adaptation0.85042283
61MP0001986_abnormal_taste_sensitivity0.83823844
62MP0008789_abnormal_olfactory_epithelium0.81636762
63MP0003880_abnormal_central_pattern0.81020650
64MP0003786_premature_aging0.80553203
65MP0003635_abnormal_synaptic_transmissio0.79677007
66MP0005670_abnormal_white_adipose0.78996064
67MP0002735_abnormal_chemical_nociception0.78373179
68MP0000026_abnormal_inner_ear0.77159168
69MP0002697_abnormal_eye_size0.76967372
70MP0001529_abnormal_vocalization0.76680163
71MP0003763_abnormal_thymus_physiology0.76527754
72MP0005394_taste/olfaction_phenotype0.76468988
73MP0005499_abnormal_olfactory_system0.76468988
74MP0000427_abnormal_hair_cycle0.75789683
75MP0008569_lethality_at_weaning0.75348549
76MP0005171_absent_coat_pigmentation0.74281558
77MP0005387_immune_system_phenotype0.73237500
78MP0001790_abnormal_immune_system0.73237500
79MP0004084_abnormal_cardiac_muscle0.71907984
80MP0002272_abnormal_nervous_system0.71605180
81MP0001800_abnormal_humoral_immune0.71027718
82MP0003111_abnormal_nucleus_morphology0.69342759
83MP0001286_abnormal_eye_development0.69060492
84MP0004215_abnormal_myocardial_fiber0.66411115
85MP0008995_early_reproductive_senescence0.65551478
86MP0003943_abnormal_hepatobiliary_system0.65018350
87MP0001963_abnormal_hearing_physiology0.64850062
88MP0005075_abnormal_melanosome_morpholog0.63854043
89MP0002882_abnormal_neuron_morphology0.63252677
90MP0004036_abnormal_muscle_relaxation0.61250888
91MP0000383_abnormal_hair_follicle0.60718023
92MP0005310_abnormal_salivary_gland0.58912794
93MP0001835_abnormal_antigen_presentation0.58908918
94MP0003890_abnormal_embryonic-extraembry0.58764554
95MP0009785_altered_susceptibility_to0.58646177
96MP0003698_abnormal_male_reproductive0.58276342
97MP0002063_abnormal_learning/memory/cond0.57838631
98MP0002723_abnormal_immune_serum0.57060932
99MP0002452_abnormal_antigen_presenting0.56492747
100MP0002572_abnormal_emotion/affect_behav0.55151360

Predicted human phenotypes

RankGene SetZ-score
1Febrile seizures (HP:0002373)5.83461875
2Septo-optic dysplasia (HP:0100842)5.28118209
3Central scotoma (HP:0000603)5.07151087
4Severe visual impairment (HP:0001141)5.05280882
5Abnormality of macular pigmentation (HP:0008002)4.77974159
6Hypoplasia of the fovea (HP:0007750)4.55218915
7Aplasia/Hypoplasia of the fovea (HP:0008060)4.55218915
8Decreased central vision (HP:0007663)4.48337567
9Chromosomal breakage induced by crosslinking agents (HP:0003221)4.29706146
10Abnormal rod and cone electroretinograms (HP:0008323)4.25162387
11Epileptic encephalopathy (HP:0200134)4.00178973
12Chromsome breakage (HP:0040012)3.76200458
13Abnormality of the fovea (HP:0000493)3.47346870
14Scotoma (HP:0000575)3.35731388
15Prostate neoplasm (HP:0100787)3.30269777
16Abnormality of DNA repair (HP:0003254)3.10161039
17Bony spicule pigmentary retinopathy (HP:0007737)2.98596618
18Optic nerve hypoplasia (HP:0000609)2.92111556
19Absent septum pellucidum (HP:0001331)2.92032402
20Albinism (HP:0001022)2.89030979
21Aplasia/Hypoplasia of the macula (HP:0008059)2.82642195
22True hermaphroditism (HP:0010459)2.73310584
23Aplasia/Hypoplasia of the uvula (HP:0010293)2.70308246
24Chorioretinal coloboma (HP:0000567)2.65831036
25Upper limb muscle weakness (HP:0003484)2.65519731
26Congenital sensorineural hearing impairment (HP:0008527)2.64947784
27Abnormality of the preputium (HP:0100587)2.63846663
28Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.59087756
29Abnormality of the ileum (HP:0001549)2.53113231
30Abnormality of the septum pellucidum (HP:0007375)2.52788912
31Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.47691418
32Aplasia/Hypoplasia affecting the retina (HP:0008061)2.47117113
33Clubbing of toes (HP:0100760)2.44374389
34Abnormality of incisor morphology (HP:0011063)2.40371011
35Meckel diverticulum (HP:0002245)2.36962996
36Abnormality of chromosome stability (HP:0003220)2.34757499
37Astigmatism (HP:0000483)2.33736214
38Agammaglobulinemia (HP:0004432)2.32143607
39Attenuation of retinal blood vessels (HP:0007843)2.23879103
40Dyschromatopsia (HP:0007641)2.17050393
41Aplasia cutis congenita (HP:0001057)2.10840378
42Volvulus (HP:0002580)2.10601791
43Recurrent pneumonia (HP:0006532)2.04931142
44Prolonged QT interval (HP:0001657)2.03704037
45Abnormality of male internal genitalia (HP:0000022)2.01557264
46Growth hormone deficiency (HP:0000824)2.01364738
47Absent rod-and cone-mediated responses on ERG (HP:0007688)2.00713784
48Poor coordination (HP:0002370)2.00275858
49* Congenital stationary night blindness (HP:0007642)11.1788090
50Pendular nystagmus (HP:0012043)1.99813174
51Renal cortical cysts (HP:0000803)1.99359570
52Abnormality of the fingertips (HP:0001211)1.96696072
53Photophobia (HP:0000613)1.96457960
54Duplicated collecting system (HP:0000081)1.94700818
55Hemiparesis (HP:0001269)1.93777164
56Aplasia/Hypoplasia of the tongue (HP:0010295)1.91287704
57Osteomalacia (HP:0002749)1.89724588
58Congenital primary aphakia (HP:0007707)1.89485532
59Abnormality of alanine metabolism (HP:0010916)1.89469313
60Hyperalaninemia (HP:0003348)1.89469313
61Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.89469313
62Medial flaring of the eyebrow (HP:0010747)1.89108380
63Enlarged kidneys (HP:0000105)1.87551370
64Gait imbalance (HP:0002141)1.86918006
65Abnormality of the carotid arteries (HP:0005344)1.85923096
66Abnormality of the renal collecting system (HP:0004742)1.83263988
67Chronic hepatic failure (HP:0100626)1.82250009
68Chronic sinusitis (HP:0011109)1.81921306
69Sex reversal (HP:0012245)1.80448994
70Abnormal sex determination (HP:0012244)1.80448994
71Keratoconus (HP:0000563)1.79873686
72Increased corneal curvature (HP:0100692)1.79873686
73Abnormality of the incisor (HP:0000676)1.77649040
74Ectopic kidney (HP:0000086)1.76860516
75Nephrogenic diabetes insipidus (HP:0009806)1.76350953
76Retrobulbar optic neuritis (HP:0100654)1.75662390
77Optic neuritis (HP:0100653)1.75662390
78Vitreoretinal degeneration (HP:0000655)1.71263837
79Abnormality of the nasal septum (HP:0000419)1.70614307
80Abnormal hair whorl (HP:0010721)1.69527718
81Aplasia/Hypoplasia of the lens (HP:0008063)1.69323712
82Abnormality of the prostate (HP:0008775)1.69275506
83Small intestinal stenosis (HP:0012848)1.67895324
84Duodenal stenosis (HP:0100867)1.67895324
85Absence seizures (HP:0002121)1.66881632
86Submucous cleft hard palate (HP:0000176)1.66464588
87Aortic valve stenosis (HP:0001650)1.62880518
88Pancreatic fibrosis (HP:0100732)1.62812158
89Lip pit (HP:0100267)1.62402874
90Fair hair (HP:0002286)1.61811768
91Recurrent cutaneous fungal infections (HP:0011370)1.61771022
92Chronic mucocutaneous candidiasis (HP:0002728)1.61771022
93Scrotal hypoplasia (HP:0000046)1.60766612
94Thyroiditis (HP:0100646)1.60629424
95Blue irides (HP:0000635)1.60262573
96Oligodactyly (hands) (HP:0001180)1.55666150
97Focal motor seizures (HP:0011153)1.55453922
98Abnormality of abdominal situs (HP:0011620)1.55398150
99Abdominal situs inversus (HP:0003363)1.55398150
100Exotropia (HP:0000577)1.54511667

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PRPF4B4.58773144
2EPHA34.24982125
3CASK3.55717970
4INSRR3.20774167
5TAOK22.75693028
6AKT32.37702423
7TXK2.37188752
8SIK32.25185608
9GRK12.22327232
10EIF2AK22.21147005
11ZAK2.13553773
12MAP3K141.82924996
13SRPK11.76850342
14TNK21.67488181
15YES11.60639663
16CDK31.58114099
17BRD41.53505893
18TAOK31.44877962
19BMPR1B1.42546324
20FGFR31.40767979
21SGK21.38579580
22NEK61.36044310
23DYRK1A1.33069678
24CDK81.28119902
25FGFR41.28004823
26EIF2AK11.13622856
27STK38L1.13082860
28JAK11.09814668
29CLK11.08986406
30NUAK11.08116269
31GRK71.05044211
32MAPK131.04682600
33FGFR21.03205836
34TNIK1.02883461
35STK31.02599088
36TEC1.02528407
37NTRK20.98985401
38ERBB30.95427821
39ADRBK20.89601485
40NEK90.85598567
41TSSK60.85561317
42MAPK70.85024989
43SYK0.83845337
44NME10.83193237
45CDK90.79189393
46SGK2230.78718562
47SGK4940.78718562
48PLK30.77699588
49DMPK0.77682163
50HCK0.77571547
51BMPR20.76852661
52ATR0.74337951
53PRKAA10.74312239
54PRKCE0.73638799
55MKNK20.72976270
56MAP3K70.70870039
57NLK0.65690345
58CHEK20.65633791
59MAPK120.64469609
60MAP2K70.64396021
61IKBKE0.62104292
62SGK30.61879457
63CHUK0.60554693
64PKN10.60256369
65FRK0.58458067
66TTK0.54669118
67RPS6KB10.54602125
68IKBKB0.54077446
69RPS6KA50.52136072
70PLK20.51760976
71TIE10.50643285
72STK380.50271571
73MAP3K130.49939323
74CDK120.48957366
75EPHA40.48898211
76CAMK10.48566296
77NTRK30.48439796
78LYN0.47607506
79CAMK2D0.46968156
80IRAK40.46267630
81SGK10.45206763
82JAK30.44491846
83ATM0.44225957
84MARK10.42992306
85AKT10.42416634
86TYK20.40573532
87PRKG10.40430251
88PRKAA20.39534143
89MAPK140.38584992
90HIPK20.38527780
91CCNB10.38021520
92PRKCB0.37769632
93IRAK30.37204741
94CAMK2A0.34960943
95ITK0.34834387
96BLK0.34437956
97PHKG20.34432411
98PHKG10.34432411
99CAMK1D0.34310461
100GSK3B0.34163224

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.92962560
2Morphine addiction_Homo sapiens_hsa050322.83294488
3Circadian rhythm_Homo sapiens_hsa047102.77317589
4Phototransduction_Homo sapiens_hsa047442.74349415
5GABAergic synapse_Homo sapiens_hsa047272.38873964
6Fanconi anemia pathway_Homo sapiens_hsa034602.21843648
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.21278003
8Olfactory transduction_Homo sapiens_hsa047402.08024604
9Primary immunodeficiency_Homo sapiens_hsa053402.07538775
10Synaptic vesicle cycle_Homo sapiens_hsa047212.03679514
11Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.87258594
12Circadian entrainment_Homo sapiens_hsa047131.67619671
13Glutamatergic synapse_Homo sapiens_hsa047241.61549518
14Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.60096200
15Non-homologous end-joining_Homo sapiens_hsa034501.56754465
16Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.54645165
17Fructose and mannose metabolism_Homo sapiens_hsa000511.53535181
18Allograft rejection_Homo sapiens_hsa053301.46227303
19NF-kappa B signaling pathway_Homo sapiens_hsa040641.43370566
20Intestinal immune network for IgA production_Homo sapiens_hsa046721.42708042
21Autoimmune thyroid disease_Homo sapiens_hsa053201.40793697
22Insulin secretion_Homo sapiens_hsa049111.40706737
23Serotonergic synapse_Homo sapiens_hsa047261.40500307
24Salivary secretion_Homo sapiens_hsa049701.33667969
25Renin secretion_Homo sapiens_hsa049241.33421595
26Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.33304022
27Calcium signaling pathway_Homo sapiens_hsa040201.27453147
28Inositol phosphate metabolism_Homo sapiens_hsa005621.26554716
29Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.22361640
30Sphingolipid metabolism_Homo sapiens_hsa006001.13121287
31Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.12253592
32Cholinergic synapse_Homo sapiens_hsa047251.09668394
33Oxytocin signaling pathway_Homo sapiens_hsa049211.09306950
34Measles_Homo sapiens_hsa051621.08468804
35Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.07362453
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07017445
37Taste transduction_Homo sapiens_hsa047421.05778603
38Mineral absorption_Homo sapiens_hsa049781.04874539
39Rheumatoid arthritis_Homo sapiens_hsa053230.99656832
40Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.96349802
41Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.94956315
42ABC transporters_Homo sapiens_hsa020100.93232805
43Graft-versus-host disease_Homo sapiens_hsa053320.89560055
44Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.89106538
45Hematopoietic cell lineage_Homo sapiens_hsa046400.88919034
46Collecting duct acid secretion_Homo sapiens_hsa049660.88349044
47Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.87963601
48Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.84053366
49Aldosterone synthesis and secretion_Homo sapiens_hsa049250.82809793
50Dilated cardiomyopathy_Homo sapiens_hsa054140.82181694
51cGMP-PKG signaling pathway_Homo sapiens_hsa040220.81829821
52Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.81737355
53Galactose metabolism_Homo sapiens_hsa000520.76748000
54Herpes simplex infection_Homo sapiens_hsa051680.75302668
55Long-term depression_Homo sapiens_hsa047300.71258277
56Vascular smooth muscle contraction_Homo sapiens_hsa042700.71242396
57Type II diabetes mellitus_Homo sapiens_hsa049300.70107835
58Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.69328433
59Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.68475272
60Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.67545269
61Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.66239612
62Chemokine signaling pathway_Homo sapiens_hsa040620.65386567
63Type I diabetes mellitus_Homo sapiens_hsa049400.64489192
64cAMP signaling pathway_Homo sapiens_hsa040240.64340217
65Pentose phosphate pathway_Homo sapiens_hsa000300.64153878
66RNA degradation_Homo sapiens_hsa030180.63421010
67HIF-1 signaling pathway_Homo sapiens_hsa040660.62911363
68Purine metabolism_Homo sapiens_hsa002300.62829264
69Regulation of autophagy_Homo sapiens_hsa041400.60801245
70SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58996802
71Homologous recombination_Homo sapiens_hsa034400.58792876
72Asthma_Homo sapiens_hsa053100.57945830
73Jak-STAT signaling pathway_Homo sapiens_hsa046300.57920123
74Lysine degradation_Homo sapiens_hsa003100.57509819
75Basal transcription factors_Homo sapiens_hsa030220.55464691
76Arachidonic acid metabolism_Homo sapiens_hsa005900.55364648
77MAPK signaling pathway_Homo sapiens_hsa040100.55320009
78Other glycan degradation_Homo sapiens_hsa005110.55206342
79Malaria_Homo sapiens_hsa051440.54019952
80Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53356742
81Ovarian steroidogenesis_Homo sapiens_hsa049130.51599548
82Toll-like receptor signaling pathway_Homo sapiens_hsa046200.50322934
83Influenza A_Homo sapiens_hsa051640.48554307
84Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.45549905
85African trypanosomiasis_Homo sapiens_hsa051430.45322165
86Dopaminergic synapse_Homo sapiens_hsa047280.44189087
87Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.44106672
88Amphetamine addiction_Homo sapiens_hsa050310.43664249
89Choline metabolism in cancer_Homo sapiens_hsa052310.41318183
90Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.40315593
91alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.37901419
92FoxO signaling pathway_Homo sapiens_hsa040680.37429534
93RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.36661893
94Ras signaling pathway_Homo sapiens_hsa040140.36269186
95Vitamin digestion and absorption_Homo sapiens_hsa049770.35744350
96Base excision repair_Homo sapiens_hsa034100.35721204
97Melanoma_Homo sapiens_hsa052180.33825158
98Linoleic acid metabolism_Homo sapiens_hsa005910.33391894
99ErbB signaling pathway_Homo sapiens_hsa040120.33008008
100Central carbon metabolism in cancer_Homo sapiens_hsa052300.32938468

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