RAX2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1piRNA metabolic process (GO:0034587)4.31340490
2response to pheromone (GO:0019236)4.24454058
3detection of light stimulus involved in visual perception (GO:0050908)4.11084305
4detection of light stimulus involved in sensory perception (GO:0050962)4.11084305
5synapsis (GO:0007129)3.97840177
6DNA methylation involved in gamete generation (GO:0043046)3.90667297
7detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.80762401
8indole-containing compound catabolic process (GO:0042436)3.78811136
9indolalkylamine catabolic process (GO:0046218)3.78811136
10tryptophan catabolic process (GO:0006569)3.78811136
11kynurenine metabolic process (GO:0070189)3.76212901
12axoneme assembly (GO:0035082)3.72778168
13protein K11-linked deubiquitination (GO:0035871)3.55521528
14fucose catabolic process (GO:0019317)3.42636627
15L-fucose metabolic process (GO:0042354)3.42636627
16L-fucose catabolic process (GO:0042355)3.42636627
17retinal cone cell development (GO:0046549)3.42495913
18behavioral response to nicotine (GO:0035095)3.38241676
19indolalkylamine metabolic process (GO:0006586)3.33446715
20DNA double-strand break processing (GO:0000729)3.26721479
21cornea development in camera-type eye (GO:0061303)3.24276610
22reciprocal meiotic recombination (GO:0007131)3.21638689
23reciprocal DNA recombination (GO:0035825)3.21638689
24regulation of meiosis I (GO:0060631)3.20765668
25epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.14746186
26meiotic chromosome segregation (GO:0045132)3.13904133
27multicellular organism reproduction (GO:0032504)3.11837628
28tryptophan metabolic process (GO:0006568)3.09667439
29inner ear receptor stereocilium organization (GO:0060122)3.08080756
30male meiosis I (GO:0007141)3.05194316
31platelet dense granule organization (GO:0060155)3.03268265
32G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.02220493
33preassembly of GPI anchor in ER membrane (GO:0016254)2.97438235
34amine catabolic process (GO:0009310)2.94755449
35cellular biogenic amine catabolic process (GO:0042402)2.94755449
36ketone body metabolic process (GO:1902224)2.88090609
37behavioral response to ethanol (GO:0048149)2.87870486
38DNA deamination (GO:0045006)2.87695281
39adaptation of signaling pathway (GO:0023058)2.87538347
40regulation of action potential (GO:0098900)2.87454163
41gamma-aminobutyric acid transport (GO:0015812)2.87010881
42cilium morphogenesis (GO:0060271)2.84216732
43nucleotide transmembrane transport (GO:1901679)2.83526034
44proline transport (GO:0015824)2.81826852
45epithelial cilium movement (GO:0003351)2.81822531
46protein complex biogenesis (GO:0070271)2.81002244
47tachykinin receptor signaling pathway (GO:0007217)2.80597862
48nonmotile primary cilium assembly (GO:0035058)2.80393023
49photoreceptor cell maintenance (GO:0045494)2.79014261
50regulation of acrosome reaction (GO:0060046)2.78690311
51mitochondrial respiratory chain complex I assembly (GO:0032981)2.78650328
52NADH dehydrogenase complex assembly (GO:0010257)2.78650328
53mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.78650328
54cellular ketone body metabolic process (GO:0046950)2.78624054
55neural tube formation (GO:0001841)2.76119337
56regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.76053942
57regulation of cilium movement (GO:0003352)2.75758863
58protein polyglutamylation (GO:0018095)2.75037162
59auditory receptor cell stereocilium organization (GO:0060088)2.73468220
60regulation of glucokinase activity (GO:0033131)2.72896388
61regulation of hexokinase activity (GO:1903299)2.72896388
62positive regulation of meiosis (GO:0045836)2.71549381
63photoreceptor cell development (GO:0042461)2.69729238
64inositol phosphate catabolic process (GO:0071545)2.69295698
65respiratory chain complex IV assembly (GO:0008535)2.68847709
66water-soluble vitamin biosynthetic process (GO:0042364)2.68139727
67transepithelial transport (GO:0070633)2.67766398
68male meiosis (GO:0007140)2.67674247
69glycosphingolipid biosynthetic process (GO:0006688)2.66348239
70cilium organization (GO:0044782)2.66250238
71recombinational repair (GO:0000725)2.57919183
72cilium assembly (GO:0042384)2.57884063
73negative regulation of dendrite development (GO:2000171)2.57845582
74mannosylation (GO:0097502)2.57740939
75C-terminal protein amino acid modification (GO:0018410)2.57225066
76double-strand break repair via homologous recombination (GO:0000724)2.56784725
77positive regulation of meiotic cell cycle (GO:0051446)2.55401104
78eye photoreceptor cell development (GO:0042462)2.54645988
79indole-containing compound metabolic process (GO:0042430)2.54089080
80negative regulation of transcription regulatory region DNA binding (GO:2000678)2.53217032
81dopamine transport (GO:0015872)2.51813432
82keratinocyte development (GO:0003334)2.51628279
83limb bud formation (GO:0060174)2.49856449
84kidney morphogenesis (GO:0060993)2.48881390
85mitochondrial respiratory chain complex assembly (GO:0033108)2.48438260
86benzene-containing compound metabolic process (GO:0042537)2.48067871
87protein localization to cilium (GO:0061512)2.47713008
88regulation of rhodopsin mediated signaling pathway (GO:0022400)2.47363563
89* visual perception (GO:0007601)2.46707580
90* sensory perception of light stimulus (GO:0050953)2.45322553
91cilium movement (GO:0003341)2.44665418
92cytochrome complex assembly (GO:0017004)2.43201347
93reflex (GO:0060004)2.41951882
94negative regulation of mast cell activation (GO:0033004)2.41713124
95C-terminal protein lipidation (GO:0006501)2.40569705
96inositol phosphate dephosphorylation (GO:0046855)2.39949964
97phosphorylated carbohydrate dephosphorylation (GO:0046838)2.39949964
98regulation of collateral sprouting (GO:0048670)2.39911812
99rhodopsin mediated signaling pathway (GO:0016056)2.39024504
100polyol catabolic process (GO:0046174)2.37928614

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.62897125
2GBX2_23144817_ChIP-Seq_PC3_Human3.04270846
3VDR_22108803_ChIP-Seq_LS180_Human2.99598450
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.83373923
5POU3F2_20337985_ChIP-ChIP_501MEL_Human2.78401392
6ZFP57_27257070_Chip-Seq_ESCs_Mouse2.67074755
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.57247990
8FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.55010361
9SALL1_21062744_ChIP-ChIP_HESCs_Human2.51380617
10CTBP2_25329375_ChIP-Seq_LNCAP_Human2.24032970
11EWS_26573619_Chip-Seq_HEK293_Human2.23801949
12TAF15_26573619_Chip-Seq_HEK293_Human2.19760456
13IGF1R_20145208_ChIP-Seq_DFB_Human2.19614120
14P300_19829295_ChIP-Seq_ESCs_Human2.13633682
15FUS_26573619_Chip-Seq_HEK293_Human2.11950788
16CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.04772407
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.98643777
18EZH2_22144423_ChIP-Seq_EOC_Human1.96695093
19CTBP1_25329375_ChIP-Seq_LNCAP_Human1.92508859
20FLI1_27457419_Chip-Seq_LIVER_Mouse1.89369279
21AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.87608719
22ER_23166858_ChIP-Seq_MCF-7_Human1.84970521
23MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.83368945
24SMAD4_21799915_ChIP-Seq_A2780_Human1.74697635
25PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.74570310
26HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.72495548
27SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.70612640
28* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.68111470
29HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.64577319
30AR_25329375_ChIP-Seq_VCAP_Human1.62046635
31TP53_22573176_ChIP-Seq_HFKS_Human1.60936281
32IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.59281203
33CBP_20019798_ChIP-Seq_JUKART_Human1.59281203
34BCAT_22108803_ChIP-Seq_LS180_Human1.58848529
35EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.57020267
36PIAS1_25552417_ChIP-Seq_VCAP_Human1.53971616
37PCGF2_27294783_Chip-Seq_ESCs_Mouse1.53870312
38TCF4_23295773_ChIP-Seq_U87_Human1.52615832
39NOTCH1_21737748_ChIP-Seq_TLL_Human1.52023271
40STAT3_23295773_ChIP-Seq_U87_Human1.51003799
41SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.50214360
42MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.49108026
43MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.49104560
44NR3C1_21868756_ChIP-Seq_MCF10A_Human1.47236316
45TCF4_22108803_ChIP-Seq_LS180_Human1.40293975
46GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.39157304
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.38837163
48SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38198643
49TOP2B_26459242_ChIP-Seq_MCF-7_Human1.36882950
50RUNX2_22187159_ChIP-Seq_PCA_Human1.35750688
51KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.35449952
52KLF5_20875108_ChIP-Seq_MESCs_Mouse1.35061707
53BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.34563429
54SUZ12_27294783_Chip-Seq_NPCs_Mouse1.34199995
55IRF1_19129219_ChIP-ChIP_H3396_Human1.33773166
56EZH2_27294783_Chip-Seq_NPCs_Mouse1.31214186
57NANOG_19829295_ChIP-Seq_ESCs_Human1.30768236
58SOX2_19829295_ChIP-Seq_ESCs_Human1.30768236
59FOXA1_27270436_Chip-Seq_PROSTATE_Human1.30695148
60FOXA1_25329375_ChIP-Seq_VCAP_Human1.30695148
61CBX2_27304074_Chip-Seq_ESCs_Mouse1.26543735
62NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.25366895
63OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24822916
64NCOR_22424771_ChIP-Seq_293T_Human1.24614099
65NFE2_27457419_Chip-Seq_LIVER_Mouse1.23921771
66SMAD4_21741376_ChIP-Seq_EPCs_Human1.23263018
67CDX2_22108803_ChIP-Seq_LS180_Human1.23196366
68TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22727946
69POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.22727946
70REST_21632747_ChIP-Seq_MESCs_Mouse1.22562518
71RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.21526838
72FOXA1_21572438_ChIP-Seq_LNCaP_Human1.20917531
73GATA3_21878914_ChIP-Seq_MCF-7_Human1.20331182
74FLI1_21867929_ChIP-Seq_TH2_Mouse1.20153633
75NANOG_18555785_Chip-Seq_ESCs_Mouse1.19646705
76EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.18112678
77PRDM14_20953172_ChIP-Seq_ESCs_Human1.17480011
78MYC_18940864_ChIP-ChIP_HL60_Human1.17137327
79PCGF2_27294783_Chip-Seq_NPCs_Mouse1.16785955
80RNF2_27304074_Chip-Seq_NSC_Mouse1.15514968
81BMI1_23680149_ChIP-Seq_NPCS_Mouse1.14956424
82TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13691714
83EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.12542901
84CRX_20693478_ChIP-Seq_RETINA_Mouse1.12135406
85CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.11389703
86GABP_17652178_ChIP-ChIP_JURKAT_Human1.10779554
87AR_20517297_ChIP-Seq_VCAP_Human1.10778043
88ETV2_25802403_ChIP-Seq_MESCs_Mouse1.09688907
89TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09318920
90AR_21572438_ChIP-Seq_LNCaP_Human1.08672109
91STAT3_18555785_Chip-Seq_ESCs_Mouse1.06009303
92P53_22387025_ChIP-Seq_ESCs_Mouse1.05651091
93CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.05258753
94TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04856745
95TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.03348989
96TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.02917997
97HOXB7_26014856_ChIP-Seq_BT474_Human1.02673192
98AUTS2_25519132_ChIP-Seq_293T-REX_Human1.02178911
99ELK1_19687146_ChIP-ChIP_HELA_Human1.01042648
100TAL1_26923725_Chip-Seq_HPCs_Mouse1.00729251

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation3.47104662
2MP0002102_abnormal_ear_morphology2.90707690
3MP0005551_abnormal_eye_electrophysiolog2.90024612
4MP0000372_irregular_coat_pigmentation2.80120098
5MP0003195_calcinosis2.74875298
6MP0001986_abnormal_taste_sensitivity2.72478421
7MP0003787_abnormal_imprinting2.57019098
8MP0001968_abnormal_touch/_nociception2.38294503
9MP0000569_abnormal_digit_pigmentation2.26613560
10MP0002837_dystrophic_cardiac_calcinosis2.24101535
11MP0002736_abnormal_nociception_after2.23796339
12MP0002938_white_spotting2.15740229
13MP0003880_abnormal_central_pattern2.07335690
14MP0003136_yellow_coat_color2.03614501
15MP0006292_abnormal_olfactory_placode1.95497845
16MP0005253_abnormal_eye_physiology1.95007315
17MP0005075_abnormal_melanosome_morpholog1.91828714
18MP0002638_abnormal_pupillary_reflex1.90580816
19MP0000427_abnormal_hair_cycle1.89181249
20MP0005174_abnormal_tail_pigmentation1.84317775
21MP0006072_abnormal_retinal_apoptosis1.84119467
22MP0004147_increased_porphyrin_level1.80151413
23MP0009745_abnormal_behavioral_response1.77204997
24MP0001984_abnormal_olfaction1.72429996
25MP0003011_delayed_dark_adaptation1.71442053
26MP0000631_abnormal_neuroendocrine_gland1.69095997
27MP0003646_muscle_fatigue1.65564488
28MP0009046_muscle_twitch1.63576705
29MP0003718_maternal_effect1.62335900
30MP0002876_abnormal_thyroid_physiology1.61865631
31MP0004885_abnormal_endolymph1.61340549
32MP0001501_abnormal_sleep_pattern1.60228057
33MP0002272_abnormal_nervous_system1.60159296
34MP0008872_abnormal_physiological_respon1.56765293
35MP0002234_abnormal_pharynx_morphology1.56649704
36MP0008875_abnormal_xenobiotic_pharmacok1.52242079
37MP0000015_abnormal_ear_pigmentation1.45801101
38MP0000013_abnormal_adipose_tissue1.42771662
39MP0005646_abnormal_pituitary_gland1.39134190
40MP0005379_endocrine/exocrine_gland_phen1.37437623
41MP0002163_abnormal_gland_morphology1.35518927
42MP0008058_abnormal_DNA_repair1.33489234
43MP0001485_abnormal_pinna_reflex1.30578444
44MP0002653_abnormal_ependyma_morphology1.29322641
45MP0002160_abnormal_reproductive_system1.28251451
46MP0003121_genomic_imprinting1.28087833
47MP0006276_abnormal_autonomic_nervous1.22201748
48MP0002751_abnormal_autonomic_nervous1.19735290
49MP0003786_premature_aging1.19286147
50MP0001502_abnormal_circadian_rhythm1.19124828
51MP0003137_abnormal_impulse_conducting1.18517769
52MP0001486_abnormal_startle_reflex1.18235010
53MP0002572_abnormal_emotion/affect_behav1.17876162
54MP0005423_abnormal_somatic_nervous1.17551082
55MP0004924_abnormal_behavior1.16927377
56MP0005386_behavior/neurological_phenoty1.16927377
57MP0005645_abnormal_hypothalamus_physiol1.15939747
58MP0008995_early_reproductive_senescence1.15690312
59MP0005171_absent_coat_pigmentation1.14629116
60MP0008789_abnormal_olfactory_epithelium1.12732416
61MP0004142_abnormal_muscle_tone1.11395065
62MP0000647_abnormal_sebaceous_gland1.10688658
63MP0001529_abnormal_vocalization1.08475484
64MP0002557_abnormal_social/conspecific_i1.06800677
65MP0004215_abnormal_myocardial_fiber1.05761242
66MP0005389_reproductive_system_phenotype1.05448298
67MP0006054_spinal_hemorrhage1.05132273
68MP0005195_abnormal_posterior_eye1.05075329
69MP0000383_abnormal_hair_follicle1.02844161
70MP0002067_abnormal_sensory_capabilities1.02710573
71MP0001929_abnormal_gametogenesis1.02262354
72MP0002095_abnormal_skin_pigmentation1.02230581
73MP0002064_seizures1.01723530
74MP0004043_abnormal_pH_regulation1.00977367
75MP0002229_neurodegeneration1.00366540
76MP0001970_abnormal_pain_threshold1.00010221
77MP0002734_abnormal_mechanical_nocicepti0.99465951
78MP0005410_abnormal_fertilization0.97245480
79MP0004742_abnormal_vestibular_system0.96671114
80MP0003698_abnormal_male_reproductive0.96085524
81MP0001324_abnormal_eye_pigmentation0.95380149
82MP0003635_abnormal_synaptic_transmissio0.92172107
83MP0001944_abnormal_pancreas_morphology0.91715801
84MP0002210_abnormal_sex_determination0.91608473
85MP0000778_abnormal_nervous_system0.91310437
86MP0002735_abnormal_chemical_nociception0.89165595
87MP0002733_abnormal_thermal_nociception0.88757798
88MP0002909_abnormal_adrenal_gland0.86301572
89MP0008057_abnormal_DNA_replication0.85336195
90MP0002277_abnormal_respiratory_mucosa0.84964960
91MP0004270_analgesia0.84881734
92MP0004133_heterotaxia0.84372257
93MP0002752_abnormal_somatic_nervous0.84291855
94MP0000613_abnormal_salivary_gland0.83561213
95MP0002063_abnormal_learning/memory/cond0.83171017
96MP0000653_abnormal_sex_gland0.82768800
97MP0002928_abnormal_bile_duct0.82110637
98MP0010386_abnormal_urinary_bladder0.79169221
99MP0001764_abnormal_homeostasis0.79094065
100MP0004085_abnormal_heartbeat0.75068466

Predicted human phenotypes

RankGene SetZ-score
1Type II lissencephaly (HP:0007260)4.69077677
2Congenital stationary night blindness (HP:0007642)4.61616773
3Cerebellar dysplasia (HP:0007033)4.48488860
4Pancreatic cysts (HP:0001737)4.11195302
5Pancreatic fibrosis (HP:0100732)4.03053897
6True hermaphroditism (HP:0010459)3.79868872
7Molar tooth sign on MRI (HP:0002419)3.66459562
8Abnormality of midbrain morphology (HP:0002418)3.66459562
9Decreased electroretinogram (ERG) amplitude (HP:0000654)3.55094267
10Nephronophthisis (HP:0000090)3.46201783
11Hyperventilation (HP:0002883)3.39476487
12Abnormality of the renal cortex (HP:0011035)3.20232548
13Medial flaring of the eyebrow (HP:0010747)3.19497333
14Abnormality of the renal medulla (HP:0100957)3.18356477
15Gaze-evoked nystagmus (HP:0000640)3.05455205
16Attenuation of retinal blood vessels (HP:0007843)3.01229325
17Retinal dysplasia (HP:0007973)2.94044656
18Hypoplasia of the pons (HP:0012110)2.90825297
19Stomach cancer (HP:0012126)2.81413410
20Retinal atrophy (HP:0001105)2.74917980
21Abnormality of the pons (HP:0007361)2.70355708
22Abolished electroretinogram (ERG) (HP:0000550)2.68456125
23Chronic hepatic failure (HP:0100626)2.59487613
24Lissencephaly (HP:0001339)2.52416791
25Tubular atrophy (HP:0000092)2.50854948
26Abnormal rod and cone electroretinograms (HP:0008323)2.48739959
27Absent speech (HP:0001344)2.46866089
28Aplasia/Hypoplasia affecting the retina (HP:0008061)2.46859374
29Pendular nystagmus (HP:0012043)2.46833225
30Hypoplasia of the fovea (HP:0007750)2.46718205
31Aplasia/Hypoplasia of the fovea (HP:0008060)2.46718205
32Gait imbalance (HP:0002141)2.43330390
33Colon cancer (HP:0003003)2.42714002
34Cystic liver disease (HP:0006706)2.40762386
35Congenital primary aphakia (HP:0007707)2.37602100
36Nephrogenic diabetes insipidus (HP:0009806)2.33396768
37Aplasia/Hypoplasia of the tongue (HP:0010295)2.29270637
38Optic nerve hypoplasia (HP:0000609)2.27100587
39Severe muscular hypotonia (HP:0006829)2.23595847
40Decreased central vision (HP:0007663)2.23177318
41Sclerocornea (HP:0000647)2.20239012
42Abnormal drinking behavior (HP:0030082)2.15555524
43Polydipsia (HP:0001959)2.15555524
44Bony spicule pigmentary retinopathy (HP:0007737)2.13644846
45Abnormality of the fovea (HP:0000493)2.13069943
46Congenital hepatic fibrosis (HP:0002612)2.12643775
47Renal cortical cysts (HP:0000803)2.11461704
48Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.10578278
49Congenital sensorineural hearing impairment (HP:0008527)2.09853980
50Neoplasm of the adrenal cortex (HP:0100641)2.08828720
51Absent rod-and cone-mediated responses on ERG (HP:0007688)2.07663089
52Pachygyria (HP:0001302)2.05534560
53Intestinal atresia (HP:0011100)2.03437121
54Genital tract atresia (HP:0001827)2.03310701
55Broad-based gait (HP:0002136)2.02131320
56Furrowed tongue (HP:0000221)2.00601366
57Postaxial foot polydactyly (HP:0001830)2.00349198
58Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.98767206
59Methylmalonic acidemia (HP:0002912)1.98751727
60Anencephaly (HP:0002323)1.96954439
61Polyuria (HP:0000103)1.96019934
62Increased CSF lactate (HP:0002490)1.96010566
63Progressive cerebellar ataxia (HP:0002073)1.95442111
64Aplasia/Hypoplasia of the tibia (HP:0005772)1.94669735
65Progressive inability to walk (HP:0002505)1.91344113
66Increased corneal curvature (HP:0100692)1.91035748
67Keratoconus (HP:0000563)1.91035748
68Progressive macrocephaly (HP:0004481)1.89607597
69Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.88569547
70Abnormality of alanine metabolism (HP:0010916)1.88569547
71Hyperalaninemia (HP:0003348)1.88569547
72Vaginal atresia (HP:0000148)1.87933894
73Genetic anticipation (HP:0003743)1.83840580
74Small hand (HP:0200055)1.83753516
75Dandy-Walker malformation (HP:0001305)1.81556899
76Tubulointerstitial abnormality (HP:0001969)1.80694225
77Male pseudohermaphroditism (HP:0000037)1.79863640
78Febrile seizures (HP:0002373)1.78427032
79Constricted visual fields (HP:0001133)1.78399749
80Hemiparesis (HP:0001269)1.77982526
81Mitochondrial inheritance (HP:0001427)1.77834969
82Retinitis pigmentosa (HP:0000510)1.77351269
83Widely spaced teeth (HP:0000687)1.76817023
84Acute necrotizing encephalopathy (HP:0006965)1.75246570
85Tubulointerstitial fibrosis (HP:0005576)1.74902505
86Bile duct proliferation (HP:0001408)1.74588878
87Abnormal biliary tract physiology (HP:0012439)1.74588878
88Mesangial abnormality (HP:0001966)1.73301288
89Abnormality of the labia minora (HP:0012880)1.73278194
90Abnormal albumin level (HP:0012116)1.73081763
91Hypoalbuminemia (HP:0003073)1.73081763
92Albinism (HP:0001022)1.72168452
93Anterior segment dysgenesis (HP:0007700)1.71805962
94Thyroiditis (HP:0100646)1.71650420
95Postaxial hand polydactyly (HP:0001162)1.69457608
96Occipital encephalocele (HP:0002085)1.69118303
97Aplasia/Hypoplasia involving the musculature (HP:0001460)1.67583775
98Abnormality of macular pigmentation (HP:0008002)1.65737212
99Decreased circulating renin level (HP:0003351)1.64972137
100Optic disc pallor (HP:0000543)1.64821218

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.80386785
2MAP4K23.33558811
3BMPR1B2.76478229
4ADRBK22.69707265
5GRK12.66291730
6WNK32.60115351
7CASK2.50623982
8TAOK32.35428092
9TNIK2.28753474
10PINK12.25996348
11ZAK2.17697544
12MAPK132.09241497
13NUAK12.08598888
14ACVR1B2.02765187
15TRIM282.00144249
16MARK31.77718372
17STK391.69230567
18STK38L1.68413625
19MAP3K41.67598290
20MST41.53480480
21WNK41.38418021
22OXSR11.35983654
23INSRR1.28189431
24PLK21.26469087
25BCR1.22960417
26NLK1.19697554
27PDK21.18690548
28MKNK21.17478588
29PTK2B1.15801704
30DAPK21.13036883
31MARK11.12680807
32FGFR21.10052786
33CSNK1G11.07702615
34PAK31.04895204
35ERBB31.04598690
36NTRK31.02561636
37CAMKK21.02013992
38PHKG20.99403579
39PHKG10.99403579
40TLK10.98150791
41EIF2AK30.97871100
42PRKCE0.97810875
43STK100.93673339
44BRSK20.92889786
45CSNK1G30.90380253
46CSNK1G20.89235947
47STK110.87967209
48DYRK20.85835010
49PRKCI0.84259689
50EPHA40.83872868
51ADRBK10.81477847
52MAP2K70.78834003
53PRKCG0.76317300
54AKT30.70925179
55CSNK1A1L0.70613062
56STK160.67962386
57MAP3K120.64796538
58IKBKB0.64419261
59VRK10.64169609
60MUSK0.63723870
61CSNK1D0.63047711
62TAF10.61050975
63TNK20.60086418
64PIM10.59226314
65TXK0.59133330
66PIK3CA0.58581574
67TGFBR10.56038596
68WEE10.55549019
69CAMK2A0.53650310
70FER0.53534194
71PLK10.49312242
72STK380.48875117
73PKN10.48471492
74PLK30.48009344
75PRKAA20.47188055
76CSNK1A10.46310957
77MKNK10.45411490
78PRKACA0.44269353
79PRKAA10.41585459
80KSR10.41431350
81NTRK20.41372218
82CCNB10.38819641
83BCKDK0.38734399
84GRK50.38538520
85LMTK20.38240978
86CHUK0.37223655
87ATM0.36744538
88TEC0.36206883
89IRAK10.34894415
90PRKG10.34686856
91SRPK10.33768517
92RPS6KA50.30435501
93PRKCZ0.29384349
94PLK40.29331128
95ATR0.29197768
96VRK20.29099418
97STK30.29064302
98PRKACB0.28909389
99TIE10.27871348
100PRKCA0.27030201

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047443.40296964
2Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.92403114
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.81971409
4Maturity onset diabetes of the young_Homo sapiens_hsa049502.70202097
5Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.38482003
6Linoleic acid metabolism_Homo sapiens_hsa005912.31328641
7Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.19233542
8alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.12374302
9Homologous recombination_Homo sapiens_hsa034402.11450860
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.10424935
11Butanoate metabolism_Homo sapiens_hsa006502.07731940
12Caffeine metabolism_Homo sapiens_hsa002321.97848596
13Nicotine addiction_Homo sapiens_hsa050331.97076560
14Protein export_Homo sapiens_hsa030601.96539408
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.95463468
16Basal transcription factors_Homo sapiens_hsa030221.93528500
17Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.91623274
18Fanconi anemia pathway_Homo sapiens_hsa034601.88185190
19Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.87486828
20Selenocompound metabolism_Homo sapiens_hsa004501.78644217
21Tryptophan metabolism_Homo sapiens_hsa003801.73734273
22Ether lipid metabolism_Homo sapiens_hsa005651.68862693
23Propanoate metabolism_Homo sapiens_hsa006401.61918092
24Taste transduction_Homo sapiens_hsa047421.57845164
25Oxidative phosphorylation_Homo sapiens_hsa001901.55729035
26Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.55664797
27Nitrogen metabolism_Homo sapiens_hsa009101.46879045
28Non-homologous end-joining_Homo sapiens_hsa034501.43488530
29Olfactory transduction_Homo sapiens_hsa047401.40949490
30Insulin secretion_Homo sapiens_hsa049111.35156870
31RNA polymerase_Homo sapiens_hsa030201.24582624
32Circadian rhythm_Homo sapiens_hsa047101.23175322
33Sulfur metabolism_Homo sapiens_hsa009201.19351456
34Regulation of autophagy_Homo sapiens_hsa041401.18697911
35RNA degradation_Homo sapiens_hsa030181.16560999
36Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.14972935
37Peroxisome_Homo sapiens_hsa041461.14439500
38Retinol metabolism_Homo sapiens_hsa008301.10601723
39Morphine addiction_Homo sapiens_hsa050321.10303531
40Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.09726574
41Collecting duct acid secretion_Homo sapiens_hsa049661.08961357
42Steroid hormone biosynthesis_Homo sapiens_hsa001401.07541913
43Circadian entrainment_Homo sapiens_hsa047131.07089700
44Parkinsons disease_Homo sapiens_hsa050121.06732573
45SNARE interactions in vesicular transport_Homo sapiens_hsa041301.04699214
46ABC transporters_Homo sapiens_hsa020101.04256046
47Primary bile acid biosynthesis_Homo sapiens_hsa001200.98168897
48Chemical carcinogenesis_Homo sapiens_hsa052040.97557551
49Glutamatergic synapse_Homo sapiens_hsa047240.96471156
50Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.94075562
51GABAergic synapse_Homo sapiens_hsa047270.92405274
52Ovarian steroidogenesis_Homo sapiens_hsa049130.92092420
53Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.92084107
54Sphingolipid metabolism_Homo sapiens_hsa006000.90215683
55Salivary secretion_Homo sapiens_hsa049700.88471608
56Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.85036996
57Arachidonic acid metabolism_Homo sapiens_hsa005900.83078887
58beta-Alanine metabolism_Homo sapiens_hsa004100.79606259
59Serotonergic synapse_Homo sapiens_hsa047260.76666246
60Amphetamine addiction_Homo sapiens_hsa050310.76065771
61Fat digestion and absorption_Homo sapiens_hsa049750.75762339
62Cocaine addiction_Homo sapiens_hsa050300.73216405
63Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72397584
64Dopaminergic synapse_Homo sapiens_hsa047280.72281515
65Steroid biosynthesis_Homo sapiens_hsa001000.70641407
66Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.69816568
67Huntingtons disease_Homo sapiens_hsa050160.68549283
68Calcium signaling pathway_Homo sapiens_hsa040200.65541303
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65530291
70Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.64353706
71Metabolic pathways_Homo sapiens_hsa011000.63460141
72Glycerolipid metabolism_Homo sapiens_hsa005610.61191106
73Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.59054261
74Pentose and glucuronate interconversions_Homo sapiens_hsa000400.58606790
75Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.54178978
76Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.52354158
77Purine metabolism_Homo sapiens_hsa002300.49594141
78Proteasome_Homo sapiens_hsa030500.46025405
79Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.45184540
80Mineral absorption_Homo sapiens_hsa049780.45132378
81Fatty acid degradation_Homo sapiens_hsa000710.44982863
82Cardiac muscle contraction_Homo sapiens_hsa042600.44586791
83Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43802361
84Alzheimers disease_Homo sapiens_hsa050100.43567788
85Glycerophospholipid metabolism_Homo sapiens_hsa005640.43435374
86Lysine degradation_Homo sapiens_hsa003100.43420885
87One carbon pool by folate_Homo sapiens_hsa006700.43409157
88Glutathione metabolism_Homo sapiens_hsa004800.42863183
89Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.42790578
90Cysteine and methionine metabolism_Homo sapiens_hsa002700.42273104
91Fatty acid elongation_Homo sapiens_hsa000620.42064010
92Intestinal immune network for IgA production_Homo sapiens_hsa046720.41431780
93Dorso-ventral axis formation_Homo sapiens_hsa043200.40039113
94Histidine metabolism_Homo sapiens_hsa003400.38834934
95Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.37644634
96Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.37188593
97cAMP signaling pathway_Homo sapiens_hsa040240.36478461
98Aldosterone synthesis and secretion_Homo sapiens_hsa049250.35179301
99RNA transport_Homo sapiens_hsa030130.31951320
100Cyanoamino acid metabolism_Homo sapiens_hsa004600.31052666

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