CRHR1-IT1

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 G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response and obesity. Alternative splicing results in multiple transcript variants. Naturally-occurring readthrough transcription between this gene and upstream GeneID:147081 results in transcripts that encode isoforms that share similarity with the products of this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.03952692
2pyrimidine nucleobase catabolic process (GO:0006208)3.66694138
3nonmotile primary cilium assembly (GO:0035058)3.52973728
4presynaptic membrane assembly (GO:0097105)3.50441574
5epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.31846695
6presynaptic membrane organization (GO:0097090)3.31787632
7postsynaptic membrane organization (GO:0001941)3.27705509
8protein polyglutamylation (GO:0018095)3.23928626
9response to pheromone (GO:0019236)3.23529598
10epithelial cilium movement (GO:0003351)3.20248534
11neural tube formation (GO:0001841)3.14006117
12nucleobase catabolic process (GO:0046113)3.08668544
13limb bud formation (GO:0060174)3.07776104
14mitochondrial respiratory chain complex I assembly (GO:0032981)3.06521956
15NADH dehydrogenase complex assembly (GO:0010257)3.06521956
16mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.06521956
17protein complex biogenesis (GO:0070271)3.06455801
18gamma-aminobutyric acid transport (GO:0015812)3.05970208
19cornea development in camera-type eye (GO:0061303)3.01652249
20behavioral response to ethanol (GO:0048149)3.01538023
21neuron cell-cell adhesion (GO:0007158)2.97617904
22kidney morphogenesis (GO:0060993)2.93923103
23regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.90594448
24axoneme assembly (GO:0035082)2.90329166
25transmission of nerve impulse (GO:0019226)2.89839706
26fucose catabolic process (GO:0019317)2.87385817
27L-fucose metabolic process (GO:0042354)2.87385817
28L-fucose catabolic process (GO:0042355)2.87385817
29negative regulation of translation, ncRNA-mediated (GO:0040033)2.86414732
30regulation of translation, ncRNA-mediated (GO:0045974)2.86414732
31negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.86414732
32water-soluble vitamin biosynthetic process (GO:0042364)2.85978053
33mitochondrial respiratory chain complex assembly (GO:0033108)2.83976930
34protein localization to cilium (GO:0061512)2.80885750
35detection of light stimulus involved in sensory perception (GO:0050962)2.79995247
36detection of light stimulus involved in visual perception (GO:0050908)2.79995247
37detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.78736845
38somite development (GO:0061053)2.78443371
39cilium organization (GO:0044782)2.77965314
40cellular ketone body metabolic process (GO:0046950)2.77663349
41G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.77464762
42preassembly of GPI anchor in ER membrane (GO:0016254)2.75747533
43protein-cofactor linkage (GO:0018065)2.74259564
44cilium assembly (GO:0042384)2.74119628
45regulation of action potential (GO:0098900)2.73141213
46retinal ganglion cell axon guidance (GO:0031290)2.71983631
47cilium morphogenesis (GO:0060271)2.71249062
48neuronal action potential (GO:0019228)2.69050208
49indolalkylamine metabolic process (GO:0006586)2.67142132
50spinal cord motor neuron differentiation (GO:0021522)2.66964526
51regulation of cilium movement (GO:0003352)2.65605332
52intraciliary transport (GO:0042073)2.64438856
53cilium movement (GO:0003341)2.64135315
54protein localization to synapse (GO:0035418)2.63671872
55negative regulation of telomere maintenance (GO:0032205)2.60986902
56ATP synthesis coupled proton transport (GO:0015986)2.60387651
57energy coupled proton transport, down electrochemical gradient (GO:0015985)2.60387651
58mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.57812186
59mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.55692286
60auditory behavior (GO:0031223)2.54298832
61respiratory chain complex IV assembly (GO:0008535)2.53685757
62DNA double-strand break processing (GO:0000729)2.53347832
63regulation of telomere maintenance (GO:0032204)2.52734788
64startle response (GO:0001964)2.51355040
65reflex (GO:0060004)2.51123319
66spinal cord development (GO:0021510)2.50656063
67ketone body metabolic process (GO:1902224)2.48906710
68tryptophan catabolic process (GO:0006569)2.47687763
69indole-containing compound catabolic process (GO:0042436)2.47687763
70indolalkylamine catabolic process (GO:0046218)2.47687763
71photoreceptor cell maintenance (GO:0045494)2.44192151
72regulation of gene silencing by RNA (GO:0060966)2.44156490
73regulation of posttranscriptional gene silencing (GO:0060147)2.44156490
74regulation of gene silencing by miRNA (GO:0060964)2.44156490
75retinal cone cell development (GO:0046549)2.43929768
76cell differentiation in spinal cord (GO:0021515)2.43465583
77dendritic spine morphogenesis (GO:0060997)2.43425478
78negative regulation of transcription regulatory region DNA binding (GO:2000678)2.43106322
79synapse assembly (GO:0007416)2.42717286
80serotonin metabolic process (GO:0042428)2.42643335
81vocalization behavior (GO:0071625)2.42520577
82primary amino compound metabolic process (GO:1901160)2.42164437
83kynurenine metabolic process (GO:0070189)2.40730626
84hindbrain development (GO:0030902)2.40715265
85nephron epithelium morphogenesis (GO:0072088)2.39895651
86nephron tubule morphogenesis (GO:0072078)2.39895651
87somatic diversification of immune receptors via somatic mutation (GO:0002566)2.38917360
88somatic hypermutation of immunoglobulin genes (GO:0016446)2.38917360
89regulation of nuclear cell cycle DNA replication (GO:0033262)2.38424030
90head development (GO:0060322)2.38356492
91neuronal action potential propagation (GO:0019227)2.37568825
92behavioral defense response (GO:0002209)2.35813192
93behavioral fear response (GO:0001662)2.35813192
94sympathetic nervous system development (GO:0048485)2.34976167
95negative regulation of synaptic transmission, GABAergic (GO:0032229)2.34253750
96olfactory bulb development (GO:0021772)2.34064954
97synaptic transmission, cholinergic (GO:0007271)2.33531149
98regulation of hippo signaling (GO:0035330)2.33237187
99inner ear receptor stereocilium organization (GO:0060122)2.32326428
100glutamate receptor signaling pathway (GO:0007215)2.31897386

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.55534306
2EZH2_22144423_ChIP-Seq_EOC_Human3.49156743
3GBX2_23144817_ChIP-Seq_PC3_Human3.14294404
4VDR_22108803_ChIP-Seq_LS180_Human2.86235750
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.84493463
6IGF1R_20145208_ChIP-Seq_DFB_Human2.70133992
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.54802430
8CTBP2_25329375_ChIP-Seq_LNCAP_Human2.41193395
9FUS_26573619_Chip-Seq_HEK293_Human2.39661608
10NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.30673543
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.28440679
12TAF15_26573619_Chip-Seq_HEK293_Human2.25576190
13EWS_26573619_Chip-Seq_HEK293_Human2.17006286
14HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.15329435
15CTBP1_25329375_ChIP-Seq_LNCAP_Human2.13540971
16SALL1_21062744_ChIP-ChIP_HESCs_Human2.05869092
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.01849903
18P300_19829295_ChIP-Seq_ESCs_Human1.98730420
19HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.91860457
20FLI1_27457419_Chip-Seq_LIVER_Mouse1.91105143
21CBX2_27304074_Chip-Seq_ESCs_Mouse1.90639468
22MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.89781289
23CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.74188487
24BMI1_23680149_ChIP-Seq_NPCS_Mouse1.73880449
25REST_21632747_ChIP-Seq_MESCs_Mouse1.73839654
26TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.64738087
27SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.63484120
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.63072883
29ER_23166858_ChIP-Seq_MCF-7_Human1.61405765
30RNF2_27304074_Chip-Seq_NSC_Mouse1.60274991
31MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.58533137
32TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.57091442
33POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.57091442
34EST1_17652178_ChIP-ChIP_JURKAT_Human1.53165013
35GABP_17652178_ChIP-ChIP_JURKAT_Human1.52986867
36IRF1_19129219_ChIP-ChIP_H3396_Human1.52914730
37PCGF2_27294783_Chip-Seq_ESCs_Mouse1.50548369
38PIAS1_25552417_ChIP-Seq_VCAP_Human1.50320745
39UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.49791746
40SMAD4_21799915_ChIP-Seq_A2780_Human1.49533890
41AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.48543349
42CBP_20019798_ChIP-Seq_JUKART_Human1.46256249
43IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.46256249
44STAT3_23295773_ChIP-Seq_U87_Human1.45638675
45MYC_18940864_ChIP-ChIP_HL60_Human1.44330586
46EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.43822199
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.43414246
48MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.43258445
49AR_21572438_ChIP-Seq_LNCaP_Human1.41873528
50E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.40414004
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40093958
52EZH2_27304074_Chip-Seq_ESCs_Mouse1.39885974
53AR_25329375_ChIP-Seq_VCAP_Human1.39013250
54POU5F1_16153702_ChIP-ChIP_HESCs_Human1.36898319
55TP53_22573176_ChIP-Seq_HFKS_Human1.35298912
56TCF4_23295773_ChIP-Seq_U87_Human1.34609494
57SMAD3_21741376_ChIP-Seq_EPCs_Human1.34364788
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.32529112
59REST_18959480_ChIP-ChIP_MESCs_Mouse1.28099838
60GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.27971045
61BCAT_22108803_ChIP-Seq_LS180_Human1.27756063
62JARID2_20064375_ChIP-Seq_MESCs_Mouse1.25603738
63RBPJ_22232070_ChIP-Seq_NCS_Mouse1.25033965
64SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24759320
65EED_16625203_ChIP-ChIP_MESCs_Mouse1.24484431
66CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.23807549
67KLF5_20875108_ChIP-Seq_MESCs_Mouse1.21697298
68KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.20792949
69PCGF2_27294783_Chip-Seq_NPCs_Mouse1.19266179
70RUNX2_22187159_ChIP-Seq_PCA_Human1.19149050
71NR3C1_21868756_ChIP-Seq_MCF10A_Human1.17582779
72OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17428388
73TCF4_22108803_ChIP-Seq_LS180_Human1.17426457
74SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.15541908
75TP63_19390658_ChIP-ChIP_HaCaT_Human1.15384616
76NANOG_19829295_ChIP-Seq_ESCs_Human1.10823085
77SOX2_19829295_ChIP-Seq_ESCs_Human1.10823085
78NOTCH1_21737748_ChIP-Seq_TLL_Human1.08872409
79SUZ12_27294783_Chip-Seq_NPCs_Mouse1.03949381
80ELK1_19687146_ChIP-ChIP_HELA_Human1.03171405
81FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.02810636
82SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.02568743
83KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.02505970
84ETV2_25802403_ChIP-Seq_MESCs_Mouse1.02233030
85FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.01308736
86EZH2_27294783_Chip-Seq_ESCs_Mouse1.01137598
87CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01102300
88FLI1_21867929_ChIP-Seq_TH2_Mouse1.00087906
89SMAD4_21741376_ChIP-Seq_EPCs_Human1.00050399
90TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.99196418
91NANOG_18555785_Chip-Seq_ESCs_Mouse0.98988550
92NCOR_22424771_ChIP-Seq_293T_Human0.97882993
93EZH2_27294783_Chip-Seq_NPCs_Mouse0.97619815
94FOXA1_27270436_Chip-Seq_PROSTATE_Human0.96801748
95FOXA1_25329375_ChIP-Seq_VCAP_Human0.96801748
96TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.96531319
97NFE2_27457419_Chip-Seq_LIVER_Mouse0.96280583
98PRDM14_20953172_ChIP-Seq_ESCs_Human0.95997007
99TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.95155759
100SOX2_21211035_ChIP-Seq_LN229_Gbm0.94451724

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern3.12900253
2MP0003787_abnormal_imprinting2.61234178
3MP0008877_abnormal_DNA_methylation2.51272493
4MP0006292_abnormal_olfactory_placode2.36904272
5MP0002102_abnormal_ear_morphology2.19663245
6MP0001968_abnormal_touch/_nociception2.08916424
7MP0000569_abnormal_digit_pigmentation2.08526862
8MP0005551_abnormal_eye_electrophysiolog2.07147174
9MP0006072_abnormal_retinal_apoptosis2.03682379
10MP0001984_abnormal_olfaction2.03396435
11MP0009046_muscle_twitch2.01101590
12MP0003122_maternal_imprinting1.98855883
13MP0001529_abnormal_vocalization1.93989539
14MP0006276_abnormal_autonomic_nervous1.92786714
15MP0009745_abnormal_behavioral_response1.89862114
16MP0000778_abnormal_nervous_system1.88611478
17MP0003136_yellow_coat_color1.82257586
18MP0002736_abnormal_nociception_after1.79632516
19MP0002272_abnormal_nervous_system1.76992539
20MP0002653_abnormal_ependyma_morphology1.76945243
21MP0004142_abnormal_muscle_tone1.76833592
22MP0001486_abnormal_startle_reflex1.75139684
23MP0004133_heterotaxia1.74425466
24MP0002638_abnormal_pupillary_reflex1.74082298
25MP0003121_genomic_imprinting1.72662113
26MP0002837_dystrophic_cardiac_calcinosis1.68387910
27MP0005645_abnormal_hypothalamus_physiol1.67296826
28MP0005253_abnormal_eye_physiology1.64418157
29MP0000631_abnormal_neuroendocrine_gland1.63329536
30MP0002938_white_spotting1.61994986
31MP0004885_abnormal_endolymph1.60346928
32MP0003890_abnormal_embryonic-extraembry1.58661231
33MP0003635_abnormal_synaptic_transmissio1.57045747
34MP0005423_abnormal_somatic_nervous1.56139939
35MP0005646_abnormal_pituitary_gland1.55621484
36MP0002572_abnormal_emotion/affect_behav1.53703049
37MP0002735_abnormal_chemical_nociception1.52412464
38MP0002557_abnormal_social/conspecific_i1.49507008
39MP0004742_abnormal_vestibular_system1.47387127
40MP0002064_seizures1.47239885
41MP0004859_abnormal_synaptic_plasticity1.43326328
42MP0002063_abnormal_learning/memory/cond1.41760608
43MP0004043_abnormal_pH_regulation1.41408290
44MP0001485_abnormal_pinna_reflex1.40177379
45MP0002734_abnormal_mechanical_nocicepti1.33345002
46MP0004147_increased_porphyrin_level1.33191743
47MP0001986_abnormal_taste_sensitivity1.33106718
48MP0000427_abnormal_hair_cycle1.32997083
49MP0002751_abnormal_autonomic_nervous1.30830706
50MP0003195_calcinosis1.30736641
51MP0002067_abnormal_sensory_capabilities1.28418408
52MP0002184_abnormal_innervation1.28174554
53MP0002234_abnormal_pharynx_morphology1.28115278
54MP0004924_abnormal_behavior1.27731830
55MP0005386_behavior/neurological_phenoty1.27731830
56MP0002822_catalepsy1.27232843
57MP0008872_abnormal_physiological_respon1.27158341
58MP0003011_delayed_dark_adaptation1.22284088
59MP0001970_abnormal_pain_threshold1.22249321
60MP0003646_muscle_fatigue1.21404282
61MP0008789_abnormal_olfactory_epithelium1.20227730
62MP0004270_analgesia1.17704889
63MP0002733_abnormal_thermal_nociception1.17520501
64MP0000955_abnormal_spinal_cord1.16118069
65MP0005499_abnormal_olfactory_system1.13886243
66MP0005394_taste/olfaction_phenotype1.13886243
67MP0001501_abnormal_sleep_pattern1.12970726
68MP0008058_abnormal_DNA_repair1.11636974
69MP0002752_abnormal_somatic_nervous1.10283292
70MP0001293_anophthalmia1.08602480
71MP0005377_hearing/vestibular/ear_phenot1.06210700
72MP0003878_abnormal_ear_physiology1.06210700
73MP0000372_irregular_coat_pigmentation1.05153466
74MP0002882_abnormal_neuron_morphology1.04969700
75MP0001188_hyperpigmentation1.04606822
76MP0003119_abnormal_digestive_system1.04427495
77MP0000566_synostosis1.02409103
78MP0003937_abnormal_limbs/digits/tail_de1.00319464
79MP0002928_abnormal_bile_duct0.98898493
80MP0000026_abnormal_inner_ear0.98741349
81MP0002876_abnormal_thyroid_physiology0.98252945
82MP0002160_abnormal_reproductive_system0.97918437
83MP0000049_abnormal_middle_ear0.97917315
84MP0008995_early_reproductive_senescence0.96486626
85MP0005195_abnormal_posterior_eye0.96083064
86MP0004145_abnormal_muscle_electrophysio0.94014147
87MP0005174_abnormal_tail_pigmentation0.90755003
88MP0001905_abnormal_dopamine_level0.90332767
89MP0003938_abnormal_ear_development0.89010372
90MP0001502_abnormal_circadian_rhythm0.88724419
91MP0003718_maternal_effect0.87113473
92MP0003698_abnormal_male_reproductive0.86018688
93MP0005187_abnormal_penis_morphology0.85514083
94MP0000383_abnormal_hair_follicle0.85188695
95MP0002152_abnormal_brain_morphology0.84099824
96MP0001963_abnormal_hearing_physiology0.83848615
97MP0005389_reproductive_system_phenotype0.83764472
98MP0005391_vision/eye_phenotype0.83731447
99MP0005084_abnormal_gallbladder_morpholo0.83134823
100MP0003861_abnormal_nervous_system0.82898885

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.11056459
2Pancreatic fibrosis (HP:0100732)3.90169725
3True hermaphroditism (HP:0010459)3.73478259
4Abnormality of midbrain morphology (HP:0002418)3.66892347
5Molar tooth sign on MRI (HP:0002419)3.66892347
6Nephronophthisis (HP:0000090)3.51146648
7Medial flaring of the eyebrow (HP:0010747)3.28385852
8Congenital stationary night blindness (HP:0007642)3.06644323
9Abnormality of the labia minora (HP:0012880)3.04930906
10Abnormality of the renal medulla (HP:0100957)3.00722292
11Hyperventilation (HP:0002883)2.99693800
12Type II lissencephaly (HP:0007260)2.97715912
13Gait imbalance (HP:0002141)2.94069340
14Chronic hepatic failure (HP:0100626)2.83192830
15Congenital primary aphakia (HP:0007707)2.77720411
16Abnormality of the renal cortex (HP:0011035)2.73776821
17Cystic liver disease (HP:0006706)2.67387199
18Nephrogenic diabetes insipidus (HP:0009806)2.61414741
19Progressive cerebellar ataxia (HP:0002073)2.60670246
20Broad-based gait (HP:0002136)2.60668048
21Lissencephaly (HP:0001339)2.58414098
22Genital tract atresia (HP:0001827)2.53350044
23Sclerocornea (HP:0000647)2.51494904
24Vaginal atresia (HP:0000148)2.49397715
25Pendular nystagmus (HP:0012043)2.34733947
26Colon cancer (HP:0003003)2.31436356
27Inability to walk (HP:0002540)2.28240292
28Anencephaly (HP:0002323)2.26302843
29Cerebellar dysplasia (HP:0007033)2.22271987
30Focal motor seizures (HP:0011153)2.21782050
31Optic nerve hypoplasia (HP:0000609)2.19822243
32Attenuation of retinal blood vessels (HP:0007843)2.18709394
33Poor coordination (HP:0002370)2.17630489
34Patellar aplasia (HP:0006443)2.16274624
35Acute necrotizing encephalopathy (HP:0006965)2.16201541
36Aplasia/Hypoplasia of the tongue (HP:0010295)2.14583110
37Tubular atrophy (HP:0000092)2.14526600
38Renal cortical cysts (HP:0000803)2.13804671
39Oligodactyly (hands) (HP:0001180)2.13561705
40Febrile seizures (HP:0002373)2.12572725
41Gaze-evoked nystagmus (HP:0000640)2.08164917
42Focal seizures (HP:0007359)2.07910399
43Retinal dysplasia (HP:0007973)2.07237612
44Genetic anticipation (HP:0003743)2.06622380
45Abnormal biliary tract physiology (HP:0012439)2.03726751
46Bile duct proliferation (HP:0001408)2.03726751
47Mitochondrial inheritance (HP:0001427)2.02902433
48Pachygyria (HP:0001302)2.02666989
49Aplasia/Hypoplasia of the patella (HP:0006498)2.01900113
50Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.01834485
51Methylmalonic acidemia (HP:0002912)2.00394269
52Abolished electroretinogram (ERG) (HP:0000550)1.99510882
53Polydipsia (HP:0001959)1.98931191
54Abnormal drinking behavior (HP:0030082)1.98931191
55Protruding tongue (HP:0010808)1.98274996
56Postaxial hand polydactyly (HP:0001162)1.95790379
57Drooling (HP:0002307)1.95642701
58Congenital hepatic fibrosis (HP:0002612)1.95559020
59Postaxial foot polydactyly (HP:0001830)1.95008392
60Increased CSF lactate (HP:0002490)1.92343973
61Male pseudohermaphroditism (HP:0000037)1.91886570
62Progressive macrocephaly (HP:0004481)1.89022961
63Preaxial hand polydactyly (HP:0001177)1.88327498
64Intestinal atresia (HP:0011100)1.87842526
65Occipital encephalocele (HP:0002085)1.87450033
66Aplasia/Hypoplasia of the tibia (HP:0005772)1.86967200
67Acute encephalopathy (HP:0006846)1.86867592
68Epileptic encephalopathy (HP:0200134)1.84966069
69Lipid accumulation in hepatocytes (HP:0006561)1.84593101
70Specific learning disability (HP:0001328)1.84374913
71Furrowed tongue (HP:0000221)1.81472608
72Hemiparesis (HP:0001269)1.81412826
73Dynein arm defect of respiratory motile cilia (HP:0012255)1.79718422
74Absent/shortened dynein arms (HP:0200106)1.79718422
75Myokymia (HP:0002411)1.79445997
76Narrow forehead (HP:0000341)1.79209114
77Abnormal rod and cone electroretinograms (HP:0008323)1.78336200
78Abnormal mitochondria in muscle tissue (HP:0008316)1.77749644
79Hypothermia (HP:0002045)1.77716801
80Anophthalmia (HP:0000528)1.77426467
81Dandy-Walker malformation (HP:0001305)1.76070412
82Large for gestational age (HP:0001520)1.74889301
83Polyphagia (HP:0002591)1.73844113
84Bony spicule pigmentary retinopathy (HP:0007737)1.73698162
85Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.73432715
86Abnormality of alanine metabolism (HP:0010916)1.73432715
87Hyperalaninemia (HP:0003348)1.73432715
88Rib fusion (HP:0000902)1.72938832
89Increased hepatocellular lipid droplets (HP:0006565)1.72883925
90Limb dystonia (HP:0002451)1.72529803
91Abnormal respiratory motile cilium morphology (HP:0005938)1.71319078
92Abnormal respiratory epithelium morphology (HP:0012253)1.71319078
93Abnormal number of erythroid precursors (HP:0012131)1.71160972
94Excessive salivation (HP:0003781)1.70974348
95Absent speech (HP:0001344)1.70807528
96Methylmalonic aciduria (HP:0012120)1.70372343
973-Methylglutaconic aciduria (HP:0003535)1.69857596
98Hypoplasia of the pons (HP:0012110)1.68797151
99Progressive inability to walk (HP:0002505)1.67601764
100Dialeptic seizures (HP:0011146)1.67417517

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.57176260
2BMPR1B3.24270734
3CASK2.89328030
4WNK32.65844210
5MAP4K22.44699804
6MARK12.42319612
7ADRBK22.27689661
8MAP3K42.21749226
9ZAK2.20183943
10PINK12.02665170
11MAPK131.92592282
12GRK11.89447983
13WNK41.88959600
14NUAK11.88815456
15TNIK1.81579695
16TRIM281.80639856
17DYRK21.73813137
18ACVR1B1.67389765
19FGFR21.53548647
20INSRR1.51734595
21MKNK21.51284918
22BCR1.49730614
23TLK11.46935396
24TAOK31.41242103
25PAK31.31165741
26CSNK1G21.30341812
27PNCK1.28439431
28MAP2K71.28218042
29DAPK21.24068833
30TGFBR11.22103425
31CSNK1G31.21249966
32CSNK1A1L1.21052829
33STK38L1.20460554
34EPHA41.19498563
35NTRK31.17855353
36NTRK21.17110137
37CSNK1G11.14532700
38BRSK21.13788993
39CAMKK21.12226258
40OXSR11.10033966
41VRK11.09626521
42VRK21.05925674
43PRKCG0.99276912
44STK390.96038055
45MKNK10.92634140
46ADRBK10.89735924
47PRKCE0.89539887
48PHKG10.87740888
49PHKG20.87740888
50STK160.86924423
51PLK20.86898196
52NME10.81508073
53CDK190.78077091
54CAMK1G0.77623627
55ERBB30.75702044
56PLK30.74624739
57CAMK10.71949995
58SIK20.70321695
59WEE10.70149911
60MAPKAPK50.69935558
61BCKDK0.68124447
62PLK40.67751704
63TAF10.67064129
64CAMK1D0.67002486
65STK110.65490935
66PKN10.62191829
67MAPK150.60740667
68MINK10.60137895
69CAMK2A0.59976665
70DYRK30.59080079
71SRPK10.58892408
72TXK0.56217021
73DYRK1A0.54149736
74AKT30.53627531
75CDK80.52937542
76MUSK0.51951039
77CSNK1D0.51466770
78EPHA30.50911938
79ATR0.49602170
80TIE10.48982778
81NEK20.48319075
82CSNK1A10.47748213
83CDC70.47592687
84SGK2230.46341207
85SGK4940.46341207
86RPS6KA50.44238003
87PRKACA0.42750380
88PIK3CA0.42447911
89PLK10.42304701
90CAMK40.41972471
91SGK20.40367342
92MAP2K40.40055720
93PRKAA10.39390946
94PRKCZ0.39310916
95CSNK1E0.39003400
96CDK50.37930884
97UHMK10.37469474
98GRK50.37099418
99NLK0.36472479
100TSSK60.36124934

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.02916849
2Oxidative phosphorylation_Homo sapiens_hsa001902.76429270
3Phototransduction_Homo sapiens_hsa047442.74764753
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.61825660
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.49314546
6Protein export_Homo sapiens_hsa030602.37649258
7Parkinsons disease_Homo sapiens_hsa050122.25517938
8Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.18702502
9Butanoate metabolism_Homo sapiens_hsa006502.15458961
10RNA polymerase_Homo sapiens_hsa030201.98168560
11Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.94552663
12Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.85070956
13Homologous recombination_Homo sapiens_hsa034401.84588472
14Nitrogen metabolism_Homo sapiens_hsa009101.81858004
15Maturity onset diabetes of the young_Homo sapiens_hsa049501.76512361
16Basal transcription factors_Homo sapiens_hsa030221.76355207
17Fanconi anemia pathway_Homo sapiens_hsa034601.73407819
18Linoleic acid metabolism_Homo sapiens_hsa005911.71221367
19Huntingtons disease_Homo sapiens_hsa050161.63777179
20alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.59347258
21Propanoate metabolism_Homo sapiens_hsa006401.58970292
22Morphine addiction_Homo sapiens_hsa050321.57060101
23Cardiac muscle contraction_Homo sapiens_hsa042601.56996624
24Selenocompound metabolism_Homo sapiens_hsa004501.54381565
25Taste transduction_Homo sapiens_hsa047421.54213692
26GABAergic synapse_Homo sapiens_hsa047271.50287371
27Alzheimers disease_Homo sapiens_hsa050101.49992603
28Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.48670583
29Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.44022389
30Glutamatergic synapse_Homo sapiens_hsa047241.41531335
31RNA degradation_Homo sapiens_hsa030181.39437014
32Ether lipid metabolism_Homo sapiens_hsa005651.34412471
33Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.33345497
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.32247392
35Circadian entrainment_Homo sapiens_hsa047131.30022019
36Olfactory transduction_Homo sapiens_hsa047401.26781986
37Tryptophan metabolism_Homo sapiens_hsa003801.25946216
38Ribosome_Homo sapiens_hsa030101.20255986
39Insulin secretion_Homo sapiens_hsa049111.18592382
40Non-homologous end-joining_Homo sapiens_hsa034501.17702987
41Serotonergic synapse_Homo sapiens_hsa047261.09142765
42Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.06634626
43Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.06244815
44Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.04099037
45Regulation of autophagy_Homo sapiens_hsa041401.01497146
46Dopaminergic synapse_Homo sapiens_hsa047280.99347916
47Basal cell carcinoma_Homo sapiens_hsa052170.97947971
48Cocaine addiction_Homo sapiens_hsa050300.97204354
49ABC transporters_Homo sapiens_hsa020100.96287102
50Peroxisome_Homo sapiens_hsa041460.95826110
51Hedgehog signaling pathway_Homo sapiens_hsa043400.94695823
52Caffeine metabolism_Homo sapiens_hsa002320.93504608
53Circadian rhythm_Homo sapiens_hsa047100.84456998
54Purine metabolism_Homo sapiens_hsa002300.83034935
55Collecting duct acid secretion_Homo sapiens_hsa049660.82229030
56Amphetamine addiction_Homo sapiens_hsa050310.79985918
57Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.78917674
58Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.77395699
59Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.77012532
60Steroid biosynthesis_Homo sapiens_hsa001000.75080484
61Mismatch repair_Homo sapiens_hsa034300.74022999
62Calcium signaling pathway_Homo sapiens_hsa040200.72094608
63Synaptic vesicle cycle_Homo sapiens_hsa047210.72087889
64Axon guidance_Homo sapiens_hsa043600.71885689
65One carbon pool by folate_Homo sapiens_hsa006700.70972026
66Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.68964938
67Steroid hormone biosynthesis_Homo sapiens_hsa001400.64942412
68beta-Alanine metabolism_Homo sapiens_hsa004100.64584075
69Primary bile acid biosynthesis_Homo sapiens_hsa001200.64557132
70Chemical carcinogenesis_Homo sapiens_hsa052040.64384113
71Nucleotide excision repair_Homo sapiens_hsa034200.63902714
72Metabolic pathways_Homo sapiens_hsa011000.63161476
73Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.62955170
74Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.62010089
75Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.61899415
76RNA transport_Homo sapiens_hsa030130.61113239
77Ovarian steroidogenesis_Homo sapiens_hsa049130.61069611
78Cholinergic synapse_Homo sapiens_hsa047250.60255424
79Salivary secretion_Homo sapiens_hsa049700.59962121
80Pyrimidine metabolism_Homo sapiens_hsa002400.58445725
81Cysteine and methionine metabolism_Homo sapiens_hsa002700.58309283
82Proteasome_Homo sapiens_hsa030500.58039506
83Long-term depression_Homo sapiens_hsa047300.57765182
84Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.56001040
85Hippo signaling pathway_Homo sapiens_hsa043900.55988296
86Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.53672900
87Retinol metabolism_Homo sapiens_hsa008300.51261240
88Lysine degradation_Homo sapiens_hsa003100.51138027
89Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.48132196
90Glycerolipid metabolism_Homo sapiens_hsa005610.46492761
91cAMP signaling pathway_Homo sapiens_hsa040240.43732921
92Base excision repair_Homo sapiens_hsa034100.43078172
93Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.41388569
94Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.39931390
95Fatty acid biosynthesis_Homo sapiens_hsa000610.38584072
96Histidine metabolism_Homo sapiens_hsa003400.38127482
97Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36209839
98Sulfur relay system_Homo sapiens_hsa041220.36121715
99Spliceosome_Homo sapiens_hsa030400.35538854
100Oxytocin signaling pathway_Homo sapiens_hsa049210.35389310

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