HLA-DQB2

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: HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)4.71168726
2DNA deamination (GO:0045006)4.60619808
3cilium or flagellum-dependent cell motility (GO:0001539)4.31157101
4immunoglobulin mediated immune response (GO:0016064)4.13687072
5epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.13366736
6keratinization (GO:0031424)4.10315325
7regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.99505131
8indole-containing compound catabolic process (GO:0042436)3.68661126
9indolalkylamine catabolic process (GO:0046218)3.68661126
10tryptophan catabolic process (GO:0006569)3.68661126
11negative regulation of mast cell activation (GO:0033004)3.64037494
12phosphatidylinositol acyl-chain remodeling (GO:0036149)3.57976494
13response to pheromone (GO:0019236)3.56814577
14fucose catabolic process (GO:0019317)3.53733483
15L-fucose metabolic process (GO:0042354)3.53733483
16L-fucose catabolic process (GO:0042355)3.53733483
17cellular response to exogenous dsRNA (GO:0071360)3.51211138
18detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.51115894
19establishment of skin barrier (GO:0061436)3.49981482
20cellular response to ATP (GO:0071318)3.42921782
21kynurenine metabolic process (GO:0070189)3.38427077
22tryptophan metabolic process (GO:0006568)3.23958606
23indolalkylamine metabolic process (GO:0006586)3.21575840
24phosphatidylserine acyl-chain remodeling (GO:0036150)3.16450090
25axonemal dynein complex assembly (GO:0070286)3.15723553
26epithelial cilium movement (GO:0003351)3.11027269
27B cell mediated immunity (GO:0019724)3.07933785
28somite development (GO:0061053)3.03951181
29phosphatidylethanolamine acyl-chain remodeling (GO:0036152)3.03666401
30* interferon-gamma-mediated signaling pathway (GO:0060333)2.97972509
31cellular response to interferon-beta (GO:0035458)2.95929819
32negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.95518829
33negative regulation of translation, ncRNA-mediated (GO:0040033)2.95518829
34regulation of translation, ncRNA-mediated (GO:0045974)2.95518829
35neuronal action potential (GO:0019228)2.95051816
36positive regulation of defense response to virus by host (GO:0002230)2.90984814
37* regulation of antigen processing and presentation (GO:0002577)2.89195546
38sulfation (GO:0051923)2.88377052
39behavioral response to ethanol (GO:0048149)2.86976788
40detection of light stimulus involved in sensory perception (GO:0050962)2.84674392
41detection of light stimulus involved in visual perception (GO:0050908)2.84674392
42cytidine metabolic process (GO:0046087)2.82420764
43cytidine catabolic process (GO:0006216)2.82420764
44cytidine deamination (GO:0009972)2.82420764
45synaptic transmission, cholinergic (GO:0007271)2.82278717
46hindbrain development (GO:0030902)2.79665638
47regulation of germinal center formation (GO:0002634)2.78303422
48interferon-gamma production (GO:0032609)2.78182043
49response to interferon-beta (GO:0035456)2.77528502
50adaptation of signaling pathway (GO:0023058)2.69657031
51phosphatidylcholine acyl-chain remodeling (GO:0036151)2.69630165
52indole-containing compound metabolic process (GO:0042430)2.68832530
53axoneme assembly (GO:0035082)2.68729423
54positive regulation of fatty acid transport (GO:2000193)2.67432868
55positive thymic T cell selection (GO:0045059)2.66968888
56* positive regulation of antigen processing and presentation (GO:0002579)2.65681081
57platelet dense granule organization (GO:0060155)2.64108269
58regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.61284900
59positive regulation of T cell mediated cytotoxicity (GO:0001916)2.59296922
60response to xenobiotic stimulus (GO:0009410)2.59223491
61cilium movement (GO:0003341)2.58968021
62primary amino compound metabolic process (GO:1901160)2.58561307
63pyrimidine ribonucleoside catabolic process (GO:0046133)2.58526369
64regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)2.56619151
65positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)2.56619151
66detection of bacterium (GO:0016045)2.56018847
67regulation of T cell mediated cytotoxicity (GO:0001914)2.54740387
68kidney morphogenesis (GO:0060993)2.52796613
69production of molecular mediator of immune response (GO:0002440)2.51702680
70negative regulation of T cell differentiation (GO:0045581)2.49890431
71piRNA metabolic process (GO:0034587)2.49880293
72rRNA catabolic process (GO:0016075)2.49155031
73serotonin metabolic process (GO:0042428)2.49126587
74regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)2.48177532
75positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO2.48177532
76photoreceptor cell maintenance (GO:0045494)2.47940419
77cellular biogenic amine catabolic process (GO:0042402)2.47353229
78amine catabolic process (GO:0009310)2.47353229
79hair cycle (GO:0042633)2.46204063
80molting cycle (GO:0042303)2.46204063
81positive regulation of icosanoid secretion (GO:0032305)2.44786415
82antigen processing and presentation of endogenous antigen (GO:0019883)2.44346124
83endoderm formation (GO:0001706)2.43263496
84negative regulation of interleukin-1 beta production (GO:0032691)2.42163707
85regulation of defense response to virus by host (GO:0050691)2.40666940
86positive regulation of mRNA catabolic process (GO:0061014)2.40430500
87keratinocyte proliferation (GO:0043616)2.39643015
88tyrosine phosphorylation of STAT protein (GO:0007260)2.35372550
89S-adenosylmethionine metabolic process (GO:0046500)2.35133641
90negative thymic T cell selection (GO:0045060)2.33882330
91mast cell activation (GO:0045576)2.31924523
92regulation of water loss via skin (GO:0033561)2.31808994
93negative regulation of T cell mediated immunity (GO:0002710)2.31518900
94regulation of dendritic cell antigen processing and presentation (GO:0002604)2.30391282
95benzene-containing compound metabolic process (GO:0042537)2.28444028
96membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.27672872
97mast cell activation involved in immune response (GO:0002279)2.27628825
98mast cell degranulation (GO:0043303)2.27628825
99negative regulation of telomere maintenance (GO:0032205)2.26420185
100negative regulation of interleukin-1 production (GO:0032692)2.25772506

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human3.48433987
2ZNF274_21170338_ChIP-Seq_K562_Hela3.11736032
3VDR_22108803_ChIP-Seq_LS180_Human2.88019333
4EZH2_22144423_ChIP-Seq_EOC_Human2.57230976
5IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.27006775
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.13336236
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.07485118
8FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.04343750
9GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.99673613
10GBX2_23144817_ChIP-Seq_PC3_Human1.88366912
11FLI1_27457419_Chip-Seq_LIVER_Mouse1.83870823
12FUS_26573619_Chip-Seq_HEK293_Human1.71450657
13EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.70401501
14IGF1R_20145208_ChIP-Seq_DFB_Human1.67606015
15CTBP1_25329375_ChIP-Seq_LNCAP_Human1.64552715
16POU3F2_20337985_ChIP-ChIP_501MEL_Human1.62194653
17STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.55915641
18PCGF2_27294783_Chip-Seq_ESCs_Mouse1.54388134
19IRF8_21731497_ChIP-ChIP_J774_Mouse1.52121027
20P300_19829295_ChIP-Seq_ESCs_Human1.50769917
21RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.48909798
22PCGF2_27294783_Chip-Seq_NPCs_Mouse1.46162162
23ER_23166858_ChIP-Seq_MCF-7_Human1.45491201
24GATA3_21878914_ChIP-Seq_MCF-7_Human1.43613274
25ETV2_25802403_ChIP-Seq_MESCs_Mouse1.41618313
26SUZ12_27294783_Chip-Seq_NPCs_Mouse1.40322479
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.37477489
28* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.36181514
29FOXA1_27270436_Chip-Seq_PROSTATE_Human1.34672902
30FOXA1_25329375_ChIP-Seq_VCAP_Human1.34672902
31BCAT_22108803_ChIP-Seq_LS180_Human1.34339213
32EWS_26573619_Chip-Seq_HEK293_Human1.34324327
33NFE2_27457419_Chip-Seq_LIVER_Mouse1.34199930
34GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.34144441
35TAF15_26573619_Chip-Seq_HEK293_Human1.33781994
36CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.33384874
37NOTCH1_21737748_ChIP-Seq_TLL_Human1.33325413
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.31917370
39POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.31916855
40TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.31916855
41EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.29007196
42GATA3_26560356_Chip-Seq_TH2_Human1.28988385
43IRF1_19129219_ChIP-ChIP_H3396_Human1.27157403
44VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.26492686
45AR_25329375_ChIP-Seq_VCAP_Human1.25298378
46UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.24083384
47TAF2_19829295_ChIP-Seq_ESCs_Human1.23403820
48PRDM14_20953172_ChIP-Seq_ESCs_Human1.22037487
49CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.21841934
50NANOG_19829295_ChIP-Seq_ESCs_Human1.21442274
51SOX2_19829295_ChIP-Seq_ESCs_Human1.21442274
52AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.21014677
53STAT3_23295773_ChIP-Seq_U87_Human1.20465018
54FOXA1_21572438_ChIP-Seq_LNCaP_Human1.19977066
55LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.19133571
56AR_20517297_ChIP-Seq_VCAP_Human1.18935333
57EGR1_23403033_ChIP-Seq_LIVER_Mouse1.18865774
58TCF4_22108803_ChIP-Seq_LS180_Human1.18336540
59TCF4_23295773_ChIP-Seq_U87_Human1.18247761
60NR3C1_21868756_ChIP-Seq_MCF10A_Human1.16950263
61MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.16860703
62PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.15410173
63NANOG_20526341_ChIP-Seq_ESCs_Human1.14513450
64* NCOR_22424771_ChIP-Seq_293T_Human1.13621786
65TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.13528832
66CBP_20019798_ChIP-Seq_JUKART_Human1.12608799
67IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.12608799
68RUNX_20019798_ChIP-Seq_JUKART_Human1.12592269
69EZH2_27294783_Chip-Seq_NPCs_Mouse1.12338618
70IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.11932172
71* PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.10911072
72AUTS2_25519132_ChIP-Seq_293T-REX_Human1.09902322
73FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.09436132
74SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.09183353
75GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.08369484
76HOXB7_26014856_ChIP-Seq_BT474_Human1.07360408
77FOXH1_21741376_ChIP-Seq_ESCs_Human1.07021326
78FOXH1_21741376_ChIP-Seq_EPCs_Human1.07016823
79SMAD4_21799915_ChIP-Seq_A2780_Human1.06893896
80TP53_16413492_ChIP-PET_HCT116_Human1.06742347
81CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.06107419
82CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.05733424
83PIAS1_25552417_ChIP-Seq_VCAP_Human1.05234151
84TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05180041
85CDX2_22108803_ChIP-Seq_LS180_Human1.05148702
86MYC_19829295_ChIP-Seq_ESCs_Human1.04027518
87BP1_19119308_ChIP-ChIP_Hs578T_Human1.03980526
88REST_21632747_ChIP-Seq_MESCs_Mouse1.02989984
89AR_21572438_ChIP-Seq_LNCaP_Human1.01938654
90MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.00659846
91CRX_20693478_ChIP-Seq_RETINA_Mouse1.00455111
92TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.99940764
93CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.98971820
94RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.98853075
95KLF5_20875108_ChIP-Seq_MESCs_Mouse0.98014077
96EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97825125
97RXR_22108803_ChIP-Seq_LS180_Human0.96204495
98GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.96174289
99CBX2_27304074_Chip-Seq_ESCs_Mouse0.96089263
100EZH2_27294783_Chip-Seq_ESCs_Mouse0.96008665

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001986_abnormal_taste_sensitivity3.32311807
2MP0001835_abnormal_antigen_presentation2.70139790
3MP0002138_abnormal_hepatobiliary_system2.51586879
4MP0005671_abnormal_response_to2.50614689
5MP0000685_abnormal_immune_system2.50089751
6MP0005377_hearing/vestibular/ear_phenot2.35800837
7MP0003878_abnormal_ear_physiology2.35800837
8MP0000427_abnormal_hair_cycle2.35794343
9MP0000569_abnormal_digit_pigmentation2.34451242
10MP0004885_abnormal_endolymph2.23040964
11MP0000383_abnormal_hair_follicle2.21358695
12MP0004381_abnormal_hair_follicle2.08080579
13MP0003195_calcinosis1.98956434
14MP0001790_abnormal_immune_system1.98198486
15MP0005387_immune_system_phenotype1.98198486
16MP0001800_abnormal_humoral_immune1.92782736
17MP0005075_abnormal_melanosome_morpholog1.83399015
18MP0008872_abnormal_physiological_respon1.83123644
19MP0002148_abnormal_hypersensitivity_rea1.82439523
20MP0003136_yellow_coat_color1.81230121
21MP0005174_abnormal_tail_pigmentation1.78759199
22MP0008875_abnormal_xenobiotic_pharmacok1.75587223
23MP0001968_abnormal_touch/_nociception1.73947320
24MP0003724_increased_susceptibility_to1.71008079
25MP0003646_muscle_fatigue1.70800009
26MP0002095_abnormal_skin_pigmentation1.70344472
27MP0001501_abnormal_sleep_pattern1.70047088
28MP0002796_impaired_skin_barrier1.68972352
29MP0003787_abnormal_imprinting1.67229636
30MP0000015_abnormal_ear_pigmentation1.67092682
31MP0004145_abnormal_muscle_electrophysio1.61674552
32MP0010678_abnormal_skin_adnexa1.57629505
33MP0005551_abnormal_eye_electrophysiolog1.56499652
34MP0006072_abnormal_retinal_apoptosis1.54821411
35MP0008877_abnormal_DNA_methylation1.54172394
36MP0005646_abnormal_pituitary_gland1.49578334
37MP0009379_abnormal_foot_pigmentation1.49102207
38MP0002653_abnormal_ependyma_morphology1.48680662
39MP0002277_abnormal_respiratory_mucosa1.47994930
40MP0005275_abnormal_skin_tensile1.47682794
41MP0005000_abnormal_immune_tolerance1.46282980
42MP0001485_abnormal_pinna_reflex1.44753654
43MP0000647_abnormal_sebaceous_gland1.43769816
44MP0002723_abnormal_immune_serum1.41008435
45MP0004043_abnormal_pH_regulation1.40456493
46MP0004142_abnormal_muscle_tone1.40432610
47MP0002452_abnormal_antigen_presenting1.36257265
48MP0003011_delayed_dark_adaptation1.32801958
49MP0000372_irregular_coat_pigmentation1.30484031
50MP0002876_abnormal_thyroid_physiology1.29973067
51MP0005645_abnormal_hypothalamus_physiol1.29017462
52MP0002009_preneoplasia1.28628357
53MP0009785_altered_susceptibility_to1.28306191
54MP0002102_abnormal_ear_morphology1.28049848
55MP0002837_dystrophic_cardiac_calcinosis1.24076022
56MP0003436_decreased_susceptibility_to1.23771330
57MP0004947_skin_inflammation1.22875777
58MP0000566_synostosis1.21708806
59MP0005253_abnormal_eye_physiology1.20897661
60MP0001873_stomach_inflammation1.20540920
61MP0002166_altered_tumor_susceptibility1.19411702
62MP0009764_decreased_sensitivity_to1.18650874
63MP0008995_early_reproductive_senescence1.18383339
64MP0002735_abnormal_chemical_nociception1.17592775
65MP0001188_hyperpigmentation1.17184465
66MP0003866_abnormal_defecation1.17081941
67MP0009745_abnormal_behavioral_response1.13608008
68MP0002006_tumorigenesis1.13586490
69MP0002420_abnormal_adaptive_immunity1.12810227
70MP0005025_abnormal_response_to1.11407920
71MP0001819_abnormal_immune_cell1.11211036
72MP0005389_reproductive_system_phenotype1.09684196
73MP0001919_abnormal_reproductive_system1.04732169
74MP0009046_muscle_twitch0.99270859
75MP0002272_abnormal_nervous_system0.93461110
76MP0005084_abnormal_gallbladder_morpholo0.93330304
77MP0004742_abnormal_vestibular_system0.93310366
78MP0005647_abnormal_sex_gland0.92766196
79MP0005083_abnormal_biliary_tract0.92062596
80MP0010155_abnormal_intestine_physiology0.91542803
81MP0002928_abnormal_bile_duct0.86451607
82MP0003252_abnormal_bile_duct0.85590648
83MP0000631_abnormal_neuroendocrine_gland0.81876628
84MP0002419_abnormal_innate_immunity0.81729989
85MP0000470_abnormal_stomach_morphology0.81162032
86MP0001440_abnormal_grooming_behavior0.80874663
87MP0002160_abnormal_reproductive_system0.80708276
88MP0001845_abnormal_inflammatory_respons0.80663001
89MP0001533_abnormal_skeleton_physiology0.79661903
90MP0003763_abnormal_thymus_physiology0.79539654
91MP0000230_abnormal_systemic_arterial0.79520428
92MP0002693_abnormal_pancreas_physiology0.78975486
93MP0002098_abnormal_vibrissa_morphology0.78805433
94MP0001324_abnormal_eye_pigmentation0.76616848
95MP0005085_abnormal_gallbladder_physiolo0.76151249
96MP0000716_abnormal_immune_system0.73161641
97MP0001765_abnormal_ion_homeostasis0.72316597
98MP0005410_abnormal_fertilization0.70173013
99MP0002733_abnormal_thermal_nociception0.70070338
100MP0005220_abnormal_exocrine_pancreas0.70020040

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.12280678
2Chronic otitis media (HP:0000389)3.75384047
3Increased IgE level (HP:0003212)3.52844701
4Pancreatic fibrosis (HP:0100732)3.37870712
5Abnormal respiratory motile cilium morphology (HP:0005938)3.24720274
6Abnormal respiratory epithelium morphology (HP:0012253)3.24720274
7True hermaphroditism (HP:0010459)3.22075493
8Abnormality of midbrain morphology (HP:0002418)3.11390339
9Molar tooth sign on MRI (HP:0002419)3.11390339
10Dynein arm defect of respiratory motile cilia (HP:0012255)3.08622400
11Absent/shortened dynein arms (HP:0200106)3.08622400
12Congenital stationary night blindness (HP:0007642)3.08452447
13Erythroderma (HP:0001019)3.08236596
14Abnormality of the axillary hair (HP:0100134)3.07319491
15Abnormality of secondary sexual hair (HP:0009888)3.07319491
16Nephronophthisis (HP:0000090)3.01218855
17Abnormality of the renal cortex (HP:0011035)2.98835409
18Conjunctival hamartoma (HP:0100780)2.98475242
19Furrowed tongue (HP:0000221)2.93584143
20Abnormality of the renal medulla (HP:0100957)2.90596678
21Hyperventilation (HP:0002883)2.87959254
22Abolished electroretinogram (ERG) (HP:0000550)2.87464072
23Elevated erythrocyte sedimentation rate (HP:0003565)2.78631452
24Chronic sinusitis (HP:0011109)2.78472898
25Palmoplantar hyperkeratosis (HP:0000972)2.76683717
26Chronic hepatic failure (HP:0100626)2.70900426
27Stomach cancer (HP:0012126)2.60830742
28Type II lissencephaly (HP:0007260)2.59270020
29Tubular atrophy (HP:0000092)2.58977796
30Decreased circulating renin level (HP:0003351)2.57524136
31Palmar hyperkeratosis (HP:0010765)2.56763908
32Cystic liver disease (HP:0006706)2.55819245
33Attenuation of retinal blood vessels (HP:0007843)2.55086406
34Abnormal delayed hypersensitivity skin test (HP:0002963)2.54632060
35Gangrene (HP:0100758)2.48707843
36Congenital, generalized hypertrichosis (HP:0004540)2.46492918
37Chronic mucocutaneous candidiasis (HP:0002728)2.38687594
38Recurrent cutaneous fungal infections (HP:0011370)2.38687594
39Absent rod-and cone-mediated responses on ERG (HP:0007688)2.35785498
40Abnormality of the prostate (HP:0008775)2.32436250
41Abnormal rod and cone electroretinograms (HP:0008323)2.31830889
42Clumsiness (HP:0002312)2.27988708
43Decreased electroretinogram (ERG) amplitude (HP:0000654)2.26887898
44Recurrent sinusitis (HP:0011108)2.23505575
45Hypotrichosis (HP:0001006)2.20109005
46Large for gestational age (HP:0001520)2.15319278
47Hamartoma of the eye (HP:0010568)2.15197436
48Plantar hyperkeratosis (HP:0007556)2.12397625
49Decreased central vision (HP:0007663)2.07155898
50Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.05745165
51Retrobulbar optic neuritis (HP:0100654)2.05703602
52Optic neuritis (HP:0100653)2.05703602
53Abnormal drinking behavior (HP:0030082)2.04457717
54Polydipsia (HP:0001959)2.04457717
55Increased corneal curvature (HP:0100692)2.04425095
56Keratoconus (HP:0000563)2.04425095
57Woolly hair (HP:0002224)2.01618444
58Pendular nystagmus (HP:0012043)2.01466167
59Pulmonary infiltrates (HP:0002113)2.01343366
60Fair hair (HP:0002286)2.01323263
61Erythema (HP:0010783)1.99343376
62Congenital hepatic fibrosis (HP:0002612)1.99251300
63Hemoptysis (HP:0002105)1.99135339
64Prostate neoplasm (HP:0100787)1.98311442
65Inability to walk (HP:0002540)1.97396643
66Ventricular fibrillation (HP:0001663)1.97009785
67Panhypogammaglobulinemia (HP:0003139)1.96120441
68Aplasia/Hypoplasia of the spleen (HP:0010451)1.95784840
69Parakeratosis (HP:0001036)1.91912959
70Abnormality of alanine metabolism (HP:0010916)1.90091608
71Hyperalaninemia (HP:0003348)1.90091608
72Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.90091608
73Stomatitis (HP:0010280)1.89789039
74Progressive inability to walk (HP:0002505)1.89336618
75Conical tooth (HP:0000698)1.88791017
76Increased neuronal autofluorescent lipopigment (HP:0002074)1.84825840
77Alopecia of scalp (HP:0002293)1.83189849
78Myositis (HP:0100614)1.83088792
79Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.82270843
80Asplenia (HP:0001746)1.81881381
81Aplasia/hypoplasia of the uterus (HP:0008684)1.81516043
82Abnormal ciliary motility (HP:0012262)1.80890984
83Tubulointerstitial fibrosis (HP:0005576)1.79999520
84Alveolar cell carcinoma (HP:0006519)1.79428585
85Renal cortical cysts (HP:0000803)1.79358454
86Generalized hypopigmentation of hair (HP:0011358)1.78951426
87Abnormal respiratory motile cilium physiology (HP:0012261)1.77305503
88Hypothermia (HP:0002045)1.76993112
89Thyroid-stimulating hormone excess (HP:0002925)1.75298410
90Widely spaced teeth (HP:0000687)1.74771774
913-Methylglutaconic aciduria (HP:0003535)1.72330235
92Encephalitis (HP:0002383)1.72318443
93Bilateral microphthalmos (HP:0007633)1.71943657
94Constricted visual fields (HP:0001133)1.71678353
95Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.71145956
96Bile duct proliferation (HP:0001408)1.70786047
97Abnormal biliary tract physiology (HP:0012439)1.70786047
98Gaze-evoked nystagmus (HP:0000640)1.70380321
99Keratoconjunctivitis (HP:0001096)1.70344657
100Sclerocornea (HP:0000647)1.70255373

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.07909532
2INSRR3.28863036
3ADRBK23.23242821
4TAOK32.82273316
5KIT2.29364868
6TXK2.27190557
7BMPR1B2.26057493
8GRK12.25999005
9WNK42.17714078
10OXSR12.07854077
11CASK2.01731661
12TGFBR11.87598794
13MAP4K11.83460728
14TLK11.83300418
15IKBKB1.82281604
16PINK11.77397540
17MAPKAPK31.73081317
18MAPK151.64595771
19NUAK11.64046348
20MAP4K21.57042653
21CDK191.56697463
22WNK31.52531588
23ZAK1.43256465
24CAMKK21.42247485
25STK391.23080112
26CHUK1.20764416
27IKBKE1.19373842
28DAPK21.17385072
29BLK1.14767925
30MAPK131.14127063
31MAP3K41.11940678
32MUSK1.10691874
33ACVR1B1.09994116
34PNCK1.09456640
35MAPKAPK51.09192487
36IRAK11.07844829
37SYK1.03661467
38TEC1.03508137
39ADRBK11.01029408
40CSF1R1.00200701
41PRKCQ0.99040693
42ITK0.96373706
43RIPK40.95565631
44JAK30.91462080
45MAP3K140.88985255
46IRAK40.88768656
47GRK70.88122407
48TRPM70.87154323
49PRKCE0.86955490
50LYN0.83957057
51MAP3K130.81989836
52FER0.81494660
53DYRK1B0.80500273
54TIE10.76560635
55BTK0.75777770
56PIK3CG0.74362926
57RPS6KA50.72676532
58GRK60.72223682
59MAP3K70.71076669
60STK110.68782445
61MST40.67907861
62CSNK1G20.67025759
63MAPK70.65888155
64TYK20.65340085
65FES0.63417016
66BMPR20.61350062
67PHKG10.60894236
68PHKG20.60894236
69DYRK20.59153875
70MAP2K60.57729915
71FGFR20.57340131
72MAP2K20.56634761
73MATK0.56354035
74VRK10.55725761
75ABL10.54040373
76RPS6KA60.53549171
77LCK0.52292365
78FGFR30.51874968
79HIPK20.51429209
80DYRK30.50764413
81CSNK1G30.50272987
82CSNK1A1L0.49408284
83CAMKK10.49268549
84VRK20.47807303
85PRKCG0.45293824
86ERBB20.45057789
87TNK20.44762154
88PIK3CA0.43039524
89SIK20.40403296
90PASK0.38759929
91PRKACA0.38724334
92HCK0.38545592
93NTRK20.37092877
94SGK20.37086598
95PAK30.36725450
96EPHA30.36421870
97PLK20.36212043
98IGF1R0.35498328
99NME10.34992769
100PRKCA0.34212613

Predicted pathways (KEGG)

RankGene SetZ-score
1Asthma_Homo sapiens_hsa053104.55947888
2Allograft rejection_Homo sapiens_hsa053303.94765785
3Intestinal immune network for IgA production_Homo sapiens_hsa046723.93642500
4Graft-versus-host disease_Homo sapiens_hsa053323.90523680
5Autoimmune thyroid disease_Homo sapiens_hsa053203.83225569
6Type I diabetes mellitus_Homo sapiens_hsa049403.32595044
7Staphylococcus aureus infection_Homo sapiens_hsa051502.80422539
8Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.75188506
9alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.50665306
10Antigen processing and presentation_Homo sapiens_hsa046122.40580289
11Linoleic acid metabolism_Homo sapiens_hsa005912.38461414
12Phototransduction_Homo sapiens_hsa047442.01011862
13Rheumatoid arthritis_Homo sapiens_hsa053231.85172800
14Nitrogen metabolism_Homo sapiens_hsa009101.74952523
15Leishmaniasis_Homo sapiens_hsa051401.66219330
16Viral myocarditis_Homo sapiens_hsa054161.61695158
17Maturity onset diabetes of the young_Homo sapiens_hsa049501.52713677
18Primary immunodeficiency_Homo sapiens_hsa053401.50758702
19Ether lipid metabolism_Homo sapiens_hsa005651.49648406
20Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.42232472
21Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.32188128
22Hematopoietic cell lineage_Homo sapiens_hsa046401.28214544
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.27755625
24Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.22418981
25Arachidonic acid metabolism_Homo sapiens_hsa005901.20476875
26Dorso-ventral axis formation_Homo sapiens_hsa043201.17562861
27ABC transporters_Homo sapiens_hsa020101.13179018
28Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.12682242
29Tryptophan metabolism_Homo sapiens_hsa003801.12077736
30Caffeine metabolism_Homo sapiens_hsa002321.10414026
31Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.00068008
32Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.99568865
33Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.98196071
34Systemic lupus erythematosus_Homo sapiens_hsa053220.97744259
35Primary bile acid biosynthesis_Homo sapiens_hsa001200.97200096
36Butanoate metabolism_Homo sapiens_hsa006500.96450163
37Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.94198065
38Histidine metabolism_Homo sapiens_hsa003400.93748361
39Tuberculosis_Homo sapiens_hsa051520.92022966
40Olfactory transduction_Homo sapiens_hsa047400.91732869
41Nicotine addiction_Homo sapiens_hsa050330.88147342
42NOD-like receptor signaling pathway_Homo sapiens_hsa046210.83794967
43Steroid hormone biosynthesis_Homo sapiens_hsa001400.83715449
44Toxoplasmosis_Homo sapiens_hsa051450.83328521
45Taste transduction_Homo sapiens_hsa047420.78650042
46SNARE interactions in vesicular transport_Homo sapiens_hsa041300.78457281
47Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.77294232
48Salivary secretion_Homo sapiens_hsa049700.76177061
49Oxidative phosphorylation_Homo sapiens_hsa001900.75161159
50Chemical carcinogenesis_Homo sapiens_hsa052040.72838480
51Influenza A_Homo sapiens_hsa051640.70856369
52Glycerolipid metabolism_Homo sapiens_hsa005610.70246007
53Ovarian steroidogenesis_Homo sapiens_hsa049130.68453007
54Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.65740372
55NF-kappa B signaling pathway_Homo sapiens_hsa040640.63805135
56Herpes simplex infection_Homo sapiens_hsa051680.62681234
57Jak-STAT signaling pathway_Homo sapiens_hsa046300.60915450
58Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.60588442
59Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.59612330
60Circadian entrainment_Homo sapiens_hsa047130.58319136
61Phagosome_Homo sapiens_hsa041450.57836268
62Retinol metabolism_Homo sapiens_hsa008300.55390529
63Morphine addiction_Homo sapiens_hsa050320.54225942
64Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52988442
65Peroxisome_Homo sapiens_hsa041460.52272335
66Fat digestion and absorption_Homo sapiens_hsa049750.48162455
67Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48069823
68Serotonergic synapse_Homo sapiens_hsa047260.47115171
69Homologous recombination_Homo sapiens_hsa034400.46403660
70beta-Alanine metabolism_Homo sapiens_hsa004100.45107371
71Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.42917196
72RNA polymerase_Homo sapiens_hsa030200.42795495
73Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.41996772
74Insulin secretion_Homo sapiens_hsa049110.41366138
75Pentose and glucuronate interconversions_Homo sapiens_hsa000400.40418545
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.40046572
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.38456451
78Collecting duct acid secretion_Homo sapiens_hsa049660.38406522
79Fanconi anemia pathway_Homo sapiens_hsa034600.37662689
80Pertussis_Homo sapiens_hsa051330.37598510
81Vascular smooth muscle contraction_Homo sapiens_hsa042700.37467671
82Fatty acid elongation_Homo sapiens_hsa000620.37228887
83Selenocompound metabolism_Homo sapiens_hsa004500.37103162
84Regulation of autophagy_Homo sapiens_hsa041400.36693298
85Calcium signaling pathway_Homo sapiens_hsa040200.36224805
86Protein export_Homo sapiens_hsa030600.36180853
87Cardiac muscle contraction_Homo sapiens_hsa042600.34552995
88Mineral absorption_Homo sapiens_hsa049780.34303293
89Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.32510534
90RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.30256000
91Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.29684087
92RNA degradation_Homo sapiens_hsa030180.26242821
93Parkinsons disease_Homo sapiens_hsa050120.25617554
94Propanoate metabolism_Homo sapiens_hsa006400.24557875
95GABAergic synapse_Homo sapiens_hsa047270.24536830
96Glutamatergic synapse_Homo sapiens_hsa047240.23852941
97Gastric acid secretion_Homo sapiens_hsa049710.22079170
98Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.21986422
99Lysosome_Homo sapiens_hsa041420.20739468
100Measles_Homo sapiens_hsa051620.19877014

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