ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of lipoprotein metabolic process (GO:0050746)	7.40191424
2	regulation of cytokine production involved in inflammatory response (GO:1900015)	6.99010427
3	negative regulation of adherens junction organization (GO:1903392)	6.34835290
4	negative regulation of focal adhesion assembly (GO:0051895)	6.34835290
5	negative regulation of cell junction assembly (GO:1901889)	6.34835290
6	negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)	6.31965265
7	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	5.17956910
8	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	5.15058978
9	prenylation (GO:0097354)	4.64206885
10	protein prenylation (GO:0018342)	4.64206885
11	axon regeneration (GO:0031103)	4.63181879
12	regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)	4.56487954
13	type B pancreatic cell proliferation (GO:0044342)	4.54538519
14	regulation of germinal center formation (GO:0002634)	4.39909288
15	regulation of gonadotropin secretion (GO:0032276)	4.38964868
16	diterpenoid biosynthetic process (GO:0016102)	4.36052482
17	somatic hypermutation of immunoglobulin genes (GO:0016446)	4.29771024
18	somatic diversification of immune receptors via somatic mutation (GO:0002566)	4.29771024
19	nucleoside salvage (GO:0043174)	4.17437219
20	purine-containing compound salvage (GO:0043101)	4.16544070
21	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.15414712
22	positive regulation of astrocyte differentiation (GO:0048711)	4.13578950
23	negative regulation of chemokine production (GO:0032682)	4.12705395
24	positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)	4.12205979
25	regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)	4.12205979
26	L-methionine salvage (GO:0071267)	4.09669052
27	L-methionine biosynthetic process (GO:0071265)	4.09669052
28	amino acid salvage (GO:0043102)	4.09669052
29	cellular response to vitamin D (GO:0071305)	3.94290255
30	rRNA catabolic process (GO:0016075)	3.84988801
31	muscle organ morphogenesis (GO:0048644)	3.83098367
32	cell aggregation (GO:0098743)	3.79554496
33	cartilage condensation (GO:0001502)	3.79554496
34	UV protection (GO:0009650)	3.74503308
35	axon development (GO:0061564)	3.73092049
36	enteric nervous system development (GO:0048484)	3.59225229
37	negative regulation of sodium ion transport (GO:0010766)	3.56822085
38	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.53454779
39	regulation of odontogenesis of dentin-containing tooth (GO:0042487)	3.49167783
40	antigen processing and presentation via MHC class Ib (GO:0002475)	3.47816002
41	immunoglobulin mediated immune response (GO:0016064)	3.44484690
42	myelin assembly (GO:0032288)	3.36510074
43	intraciliary transport (GO:0042073)	3.35174648
44	ER overload response (GO:0006983)	3.35108608
45	terpenoid biosynthetic process (GO:0016114)	3.26973852
46	regulation of T cell migration (GO:2000404)	3.26765325
47	protein-cofactor linkage (GO:0018065)	3.22439138
48	retinoic acid receptor signaling pathway (GO:0048384)	3.17415434
49	negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	3.16346838
50	cilium or flagellum-dependent cell motility (GO:0001539)	3.15670969
51	response to interferon-beta (GO:0035456)	3.12415237
52	sulfur amino acid catabolic process (GO:0000098)	3.11422171
53	hyaluronan metabolic process (GO:0030212)	3.11372724
54	autophagic vacuole fusion (GO:0000046)	3.06307101
55	organelle membrane fusion (GO:0090174)	3.05021357
56	positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)	3.04399168
57	regulation of timing of cell differentiation (GO:0048505)	2.99969355
58	methionine biosynthetic process (GO:0009086)	2.98036134
59	GMP metabolic process (GO:0046037)	2.97695962
60	growth hormone receptor signaling pathway (GO:0060396)	2.97108618
61	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G	2.93894271
62	postsynaptic membrane organization (GO:0001941)	2.92149191
63	cellular response to vitamin (GO:0071295)	2.92140419
64	negative regulation of DNA-templated transcription, elongation (GO:0032785)	2.90655775
65	kynurenine metabolic process (GO:0070189)	2.90521248
66	negative regulation of smooth muscle cell proliferation (GO:0048662)	2.89847237
67	tryptophan metabolic process (GO:0006568)	2.89686533
68	poly(A)+ mRNA export from nucleus (GO:0016973)	2.85525525
69	negative regulation of leukocyte migration (GO:0002686)	2.84707250
70	glycosphingolipid biosynthetic process (GO:0006688)	2.83367935
71	lung vasculature development (GO:0060426)	2.83055821
72	chondroitin sulfate catabolic process (GO:0030207)	2.80927765
73	multicellular organism reproduction (GO:0032504)	2.77961920
74	aspartate family amino acid biosynthetic process (GO:0009067)	2.77020111
75	positive regulation of natural killer cell activation (GO:0032816)	2.73605808
76	retinal metabolic process (GO:0042574)	2.73324355
77	methionine metabolic process (GO:0006555)	2.71690567
78	maturation of 5.8S rRNA (GO:0000460)	2.71627648
79	regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)	2.70780430
80	epithelial cilium movement (GO:0003351)	2.69730363
81	S-adenosylmethionine metabolic process (GO:0046500)	2.68826408
82	cellular response to growth hormone stimulus (GO:0071378)	2.67645642
83	positive regulation of mast cell activation involved in immune response (GO:0033008)	2.67114157
84	positive regulation of mast cell degranulation (GO:0043306)	2.67114157
85	neuron projection regeneration (GO:0031102)	2.62661934
86	positive regulation of T cell mediated cytotoxicity (GO:0001916)	2.62551633
87	response to gravity (GO:0009629)	2.60960336
88	blood vessel maturation (GO:0001955)	2.59918262
89	artery smooth muscle contraction (GO:0014824)	2.59437439
90	positive regulation of heterotypic cell-cell adhesion (GO:0034116)	2.59330198
91	positive regulation of leukocyte degranulation (GO:0043302)	2.57374078
92	pigment cell differentiation (GO:0050931)	2.57048546
93	melanocyte differentiation (GO:0030318)	2.55588414
94	negative regulation of telomere maintenance (GO:0032205)	2.55376658
95	regulation of memory T cell differentiation (GO:0043380)	2.55348066
96	T-helper 1 type immune response (GO:0042088)	2.54695946
97	regulation of T cell mediated cytotoxicity (GO:0001914)	2.53952648
98	regulation of MHC class I biosynthetic process (GO:0045343)	2.49304110
99	developmental pigmentation (GO:0048066)	2.48841360
100	face development (GO:0060324)	2.48523144

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	SMAD_19615063_ChIP-ChIP_OVARY_Human	3.56403708
2	VDR_22108803_ChIP-Seq_LS180_Human	3.48397860
3	IRF8_22096565_ChIP-ChIP_GC-B_Human	3.39420935
4	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	3.34104246
5	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	3.16663113
6	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.00922995
7	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.53450579
8	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	2.46759204
9	CIITA_25753668_ChIP-Seq_RAJI_Human	2.37349443
10	STAT1_20625510_ChIP-Seq_HELA_Human	2.34202723
11	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	2.33249121
12	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.29765061
13	ZNF274_21170338_ChIP-Seq_K562_Hela	2.28367261
14	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	2.22680654
15	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.14540524
16	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	2.03397491
17	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.95580146
18	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.91869316
19	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.73375961
20	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.73267040
21	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.73079565
22	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.69024250
23	GATA1_22025678_ChIP-Seq_K562_Human	1.67246423
24	VDR_23849224_ChIP-Seq_CD4+_Human	1.60662056
25	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.60489816
26	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.56742140
27	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.55649281
28	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.55199959
29	GATA3_26560356_Chip-Seq_TH2_Human	1.52851059
30	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.51721202
31	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	1.51338000
32	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.50586313
33	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.50354716
34	IRF8_27001747_Chip-Seq_BMDM_Mouse	1.50319100
35	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.47646110
36	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	1.45711346
37	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.44699796
38	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.44477873
39	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.44172292
40	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.42710681
41	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.41297682
42	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.38715314
43	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.38388306
44	CJUN_26792858_Chip-Seq_BT549_Human	1.36115846
45	TP53_16413492_ChIP-PET_HCT116_Human	1.35827012
46	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.31048909
47	MYC_19829295_ChIP-Seq_ESCs_Human	1.28139766
48	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	1.25824297
49	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.22876197
50	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.22436939
51	BCL6_27268052_Chip-Seq_Bcells_Human	1.22211401
52	TAF2_19829295_ChIP-Seq_ESCs_Human	1.22091404
53	TP53_22573176_ChIP-Seq_HFKS_Human	1.20373720
54	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.19513168
55	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.18045664
56	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.17459044
57	BCAT_22108803_ChIP-Seq_LS180_Human	1.17055841
58	DCP1A_22483619_ChIP-Seq_HELA_Human	1.15383776
59	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.14413976
60	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.13821488
61	SPI1_23547873_ChIP-Seq_NB4_Human	1.13260793
62	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.11945441
63	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	1.11655394
64	PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse	1.09174347
65	RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human	1.09119151
66	TAF15_26573619_Chip-Seq_HEK293_Human	1.06233619
67	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.05199570
68	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.04814559
69	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.04192424
70	P300_27268052_Chip-Seq_Bcells_Human	1.03253612
71	SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse	1.03195996
72	SCL_19346495_ChIP-Seq_HPC-7_Human	1.01113634
73	HTT_18923047_ChIP-ChIP_STHdh_Human	1.00504682
74	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.99048709
75	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.97915429
76	SMRT_27268052_Chip-Seq_Bcells_Human	0.96645738
77	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	0.95923306
78	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.94715936
79	GATA4_25053715_ChIP-Seq_YYC3_Human	0.94674903
80	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.94177184
81	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	0.94080969
82	SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse	0.93956610
83	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.91184990
84	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	0.90144393
85	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	0.89193791
86	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.89042706
87	GATA3_27048872_Chip-Seq_THYMUS_Human	0.87988690
88	ERG_20517297_ChIP-Seq_VCAP_Human	0.87527529
89	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.87278496
90	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	0.87239167
91	ETS1_20019798_ChIP-Seq_JURKAT_Human	0.87225535
92	AR_20517297_ChIP-Seq_VCAP_Human	0.86339785
93	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	0.86187248
94	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.85660226
95	ELF5_23300383_ChIP-Seq_T47D_Human	0.84833133
96	E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human	0.84340734
97	NANOG_19829295_ChIP-Seq_ESCs_Human	0.83531524
98	SOX2_19829295_ChIP-Seq_ESCs_Human	0.83531524
99	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.83038298
100	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.82831560

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000013_abnormal_adipose_tissue	5.46597252
2	MP0002938_white_spotting	4.33533250
3	MP0002837_dystrophic_cardiac_calcinosis	3.92893624
4	MP0005075_abnormal_melanosome_morpholog	3.80727849
5	MP0000569_abnormal_digit_pigmentation	3.66870971
6	MP0002822_catalepsy	3.52611678
7	MP0003806_abnormal_nucleotide_metabolis	3.32813432
8	MP0004858_abnormal_nervous_system	2.91702972
9	MP0003646_muscle_fatigue	2.90479011
10	MP0003011_delayed_dark_adaptation	2.51338675
11	MP0000383_abnormal_hair_follicle	2.42354516
12	MP0005171_absent_coat_pigmentation	2.36216579
13	MP0003172_abnormal_lysosome_physiology	2.34332420
14	MP0002254_reproductive_system_inflammat	2.33111180
15	MP0000516_abnormal_urinary_system	2.28212448
16	MP0005367_renal/urinary_system_phenotyp	2.28212448
17	MP0005058_abnormal_lysosome_morphology	2.20021814
18	MP0001835_abnormal_antigen_presentation	2.08894585
19	MP0000003_abnormal_adipose_tissue	1.89454194
20	MP0005671_abnormal_response_to	1.80496275
21	MP0010678_abnormal_skin_adnexa	1.78772653
22	MP0002751_abnormal_autonomic_nervous	1.76975618
23	MP0001764_abnormal_homeostasis	1.73225159
24	MP0008438_abnormal_cutaneous_collagen	1.72277532
25	MP0005646_abnormal_pituitary_gland	1.57638223
26	MP0008775_abnormal_heart_ventricle	1.56800440
27	MP0003656_abnormal_erythrocyte_physiolo	1.56368650
28	MP0002166_altered_tumor_susceptibility	1.53206284
29	MP0002998_abnormal_bone_remodeling	1.49100925
30	MP0009785_altered_susceptibility_to	1.47483631
31	MP0004133_heterotaxia	1.40731446
32	MP0004043_abnormal_pH_regulation	1.36747365
33	MP0005174_abnormal_tail_pigmentation	1.35631351
34	MP0005266_abnormal_metabolism	1.34519785
35	MP0001800_abnormal_humoral_immune	1.34098644
36	MP0004381_abnormal_hair_follicle	1.32342301
37	MP0005376_homeostasis/metabolism_phenot	1.29082268
38	MP0000920_abnormal_myelination	1.28221011
39	MP0008057_abnormal_DNA_replication	1.27177464
40	MP0003786_premature_aging	1.24130110
41	MP0008058_abnormal_DNA_repair	1.22490982
42	MP0002452_abnormal_antigen_presenting	1.21637711
43	MP0002138_abnormal_hepatobiliary_system	1.21466650
44	MP0000015_abnormal_ear_pigmentation	1.20221858
45	MP0003045_fibrosis	1.20159256
46	MP0009046_muscle_twitch	1.19695034
47	MP0000685_abnormal_immune_system	1.17321147
48	MP0002723_abnormal_immune_serum	1.13476356
49	MP0005164_abnormal_response_to	1.12273193
50	MP0002419_abnormal_innate_immunity	1.10892121
51	MP0005397_hematopoietic_system_phenotyp	1.06506661
52	MP0001545_abnormal_hematopoietic_system	1.06506661
53	MP0003763_abnormal_thymus_physiology	1.05699630
54	MP0002148_abnormal_hypersensitivity_rea	1.04265060
55	MP0001819_abnormal_immune_cell	1.03235755
56	MP0001501_abnormal_sleep_pattern	1.03013316
57	MP0002420_abnormal_adaptive_immunity	1.02069229
58	MP0003633_abnormal_nervous_system	0.99253777
59	MP0002909_abnormal_adrenal_gland	0.98800965
60	MP0002876_abnormal_thyroid_physiology	0.97576498
61	MP0006082_CNS_inflammation	0.95737066
62	MP0008469_abnormal_protein_level	0.92725663
63	MP0004272_abnormal_basement_membrane	0.92013385
64	MP0005000_abnormal_immune_tolerance	0.91742956
65	MP0006054_spinal_hemorrhage	0.91202215
66	MP0002006_tumorigenesis	0.85999458
67	MP0003191_abnormal_cellular_cholesterol	0.84584525
68	MP0005464_abnormal_platelet_physiology	0.84445182
69	MP0005408_hypopigmentation	0.84303949
70	MP0005248_abnormal_Harderian_gland	0.83878132
71	MP0003693_abnormal_embryo_hatching	0.83477748
72	MP0009764_decreased_sensitivity_to	0.79647036
73	MP0003436_decreased_susceptibility_to	0.78978528
74	MP0005167_abnormal_blood-brain_barrier	0.78954321
75	MP0000716_abnormal_immune_system	0.78909442
76	MP0003195_calcinosis	0.78797044
77	MP0005253_abnormal_eye_physiology	0.76865878
78	MP0004084_abnormal_cardiac_muscle	0.76195848
79	MP0002229_neurodegeneration	0.75895042
80	MP0002405_respiratory_system_inflammati	0.75429105
81	MP0006036_abnormal_mitochondrial_physio	0.74618823
82	MP0000230_abnormal_systemic_arterial	0.74502602
83	MP0002398_abnormal_bone_marrow	0.74426526
84	MP0005387_immune_system_phenotype	0.74088335
85	MP0001790_abnormal_immune_system	0.74088335
86	MP0004036_abnormal_muscle_relaxation	0.73940931
87	MP0003795_abnormal_bone_structure	0.73844243
88	MP0006138_congestive_heart_failure	0.72864543
89	MP0002429_abnormal_blood_cell	0.69698974
90	MP0005375_adipose_tissue_phenotype	0.69034953
91	MP0003724_increased_susceptibility_to	0.68021440
92	MP0002060_abnormal_skin_morphology	0.68007533
93	MP0003631_nervous_system_phenotype	0.67196367
94	MP0002272_abnormal_nervous_system	0.65921501
95	MP0002090_abnormal_vision	0.65739325
96	MP0005319_abnormal_enzyme/_coenzyme	0.65611791
97	MP0005332_abnormal_amino_acid	0.65548894
98	MP0001533_abnormal_skeleton_physiology	0.65046235
99	MP0002168_other_aberrant_phenotype	0.64301306
100	MP0000358_abnormal_cell_content/	0.63487377

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hand muscle atrophy (HP:0009130)	4.66027510
2	Rectovaginal fistula (HP:0000143)	4.32782938
3	Rectal fistula (HP:0100590)	4.32782938
4	Peripheral hypomyelination (HP:0007182)	4.17831626
5	Intestinal fistula (HP:0100819)	3.80718776
6	Vaginal fistula (HP:0004320)	3.80609523
7	Stridor (HP:0010307)	3.64777361
8	J-shaped sella turcica (HP:0002680)	3.63612053
9	Action tremor (HP:0002345)	3.62731390
10	Distal upper limb amyotrophy (HP:0007149)	3.45478087
11	Upper limb amyotrophy (HP:0009129)	3.45478087
12	Upper limb muscle weakness (HP:0003484)	3.32294710
13	Entropion (HP:0000621)	3.26458523
14	Congenital, generalized hypertrichosis (HP:0004540)	3.25988616
15	Increased neuronal autofluorescent lipopigment (HP:0002074)	3.16690297
16	Small epiphyses (HP:0010585)	3.03574018
17	Long toe (HP:0010511)	3.02075018
18	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	2.98528950
19	Epiphyseal dysplasia (HP:0002656)	2.95266802
20	Spinal muscular atrophy (HP:0007269)	2.90981712
21	Fair hair (HP:0002286)	2.85399693
22	White forelock (HP:0002211)	2.82569594
23	Impaired proprioception (HP:0010831)	2.76407216
24	Premature graying of hair (HP:0002216)	2.73596995
25	Patchy hypopigmentation of hair (HP:0011365)	2.71983428
26	Increased cerebral lipofuscin (HP:0011813)	2.70580580
27	Spastic paraparesis (HP:0002313)	2.64528711
28	Postural tremor (HP:0002174)	2.64171386
29	Ulnar claw (HP:0001178)	2.61911883
30	Congenital stationary night blindness (HP:0007642)	2.61533372
31	Poikiloderma (HP:0001029)	2.57842346
32	Exertional dyspnea (HP:0002875)	2.56201047
33	Carpal bone hypoplasia (HP:0001498)	2.51067047
34	Abolished electroretinogram (ERG) (HP:0000550)	2.48248204
35	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	2.46726620
36	Hypoproteinemia (HP:0003075)	2.41532315
37	Renal cortical cysts (HP:0000803)	2.40984669
38	Abnormality of liposaccharide metabolism (HP:0010968)	2.40769804
39	Abnormality of glycosphingolipid metabolism (HP:0004343)	2.40769804
40	Abnormality of glycolipid metabolism (HP:0010969)	2.40769804
41	Abnormal pupillary function (HP:0007686)	2.40502058
42	Obstructive sleep apnea (HP:0002870)	2.39635727
43	Panhypogammaglobulinemia (HP:0003139)	2.35707022
44	Abnormality of the middle phalanges of the toes (HP:0010183)	2.34040122
45	Abnormality of the distal phalanges of the toes (HP:0010182)	2.31791950
46	Down-sloping shoulders (HP:0200021)	2.27057036
47	Decreased subcutaneous fat (HP:0001002)	2.24773828
48	Testicular atrophy (HP:0000029)	2.24440026
49	Rhabdomyosarcoma (HP:0002859)	2.23520345
50	Neoplasm of head and neck (HP:0012288)	2.20703323
51	Esophageal neoplasm (HP:0100751)	2.20703323
52	Clumsiness (HP:0002312)	2.19618809
53	Ulnar bowing (HP:0003031)	2.17068933
54	Fatigue (HP:0012378)	2.16936844
55	Abnormal biliary tract physiology (HP:0012439)	2.16890679
56	Bile duct proliferation (HP:0001408)	2.16890679
57	Abnormality of dental color (HP:0011073)	2.14524237
58	Hypoplasia of the odontoid process (HP:0003311)	2.14470518
59	Increased density of long bones (HP:0006392)	2.13159208
60	Vacuolated lymphocytes (HP:0001922)	2.12991992
61	Pheochromocytoma (HP:0002666)	2.10940107
62	Chronic mucocutaneous candidiasis (HP:0002728)	2.10440051
63	Recurrent cutaneous fungal infections (HP:0011370)	2.10440051
64	Aplasia of the musculature (HP:0100854)	2.05848983
65	Severe visual impairment (HP:0001141)	2.04507978
66	3-Methylglutaconic aciduria (HP:0003535)	2.04333395
67	Diaphragmatic weakness (HP:0009113)	2.02358960
68	Increased CSF protein (HP:0002922)	2.00878230
69	Agammaglobulinemia (HP:0004432)	2.00514062
70	Mesangial abnormality (HP:0001966)	1.99946909
71	Amelogenesis imperfecta (HP:0000705)	1.99330191
72	Neuroendocrine neoplasm (HP:0100634)	1.99247594
73	Abnormality of lateral ventricle (HP:0030047)	1.96353049
74	Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)	1.95684229
75	Abnormal auditory evoked potentials (HP:0006958)	1.95227737
76	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.94736249
77	Dysostosis multiplex (HP:0000943)	1.93405444
78	Orchitis (HP:0100796)	1.93404934
79	Paraparesis (HP:0002385)	1.89699437
80	Distal lower limb muscle weakness (HP:0009053)	1.89662981
81	Hypoplasia of the uterus (HP:0000013)	1.88902245
82	Aplasia involving bones of the upper limbs (HP:0009823)	1.88501849
83	Aplasia of the phalanges of the hand (HP:0009802)	1.88501849
84	Aplasia involving bones of the extremities (HP:0009825)	1.88501849
85	Fibular aplasia (HP:0002990)	1.86251190
86	Generalized hypopigmentation of hair (HP:0011358)	1.83475471
87	Death in childhood (HP:0003819)	1.82606693
88	Abnormality of the renal cortex (HP:0011035)	1.82209753
89	Blue irides (HP:0000635)	1.81431364
90	Abnormality of incisor morphology (HP:0011063)	1.80321157
91	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	1.80175156
92	Segmental peripheral demyelination/remyelination (HP:0003481)	1.79862434
93	Inflammation of the large intestine (HP:0002037)	1.79180517
94	Heterochromia iridis (HP:0001100)	1.78063228
95	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.75198535
96	Aplasia/Hypoplasia involving the musculature (HP:0001460)	1.74791182
97	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.73936147
98	Short femoral neck (HP:0100864)	1.73679919
99	Short middle phalanx of finger (HP:0005819)	1.73485024
100	Menstrual irregularities (HP:0000858)	1.73021219

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	6.29342590
2	LMTK2	3.61127688
3	NME2	3.13000856
4	ERBB4	2.52969849
5	FRK	2.52614724
6	MOS	2.47433093
7	ACVR1B	2.36081942
8	CDC7	2.32527336
9	MAPKAPK5	2.19089662
10	PHKG2	2.14301205
11	PHKG1	2.14301205
12	CCNB1	2.09418329
13	MAP3K13	2.04550515
14	CSF1R	2.01750927
15	KIT	1.75507424
16	EIF2AK3	1.74940012
17	STK16	1.71441861
18	TAOK3	1.60581475
19	TYK2	1.57740887
20	MKNK1	1.55787840
21	MAP3K14	1.54507823
22	RIPK4	1.54026288
23	MKNK2	1.50523026
24	BMPR1B	1.49620971
25	TXK	1.49364599
26	PRKD2	1.45000018
27	CAMK1G	1.42098811
28	DAPK2	1.21775607
29	MAP3K3	1.17936877
30	BCKDK	1.17167492
31	ERN1	1.16866703
32	NTRK3	1.16562119
33	CSK	1.15309003
34	IKBKB	1.12214695
35	BMPR2	1.08633842
36	OXSR1	1.07269383
37	CAMK1D	1.05528733
38	EPHB1	1.04689408
39	MUSK	1.03172647
40	ADRBK2	1.01360973
41	CDK19	0.98343343
42	PTK2B	0.98068289
43	SCYL2	0.93579230
44	EIF2AK1	0.92743408
45	TNK2	0.90015055
46	FLT3	0.89907306
47	NEK1	0.88728306
48	ABL2	0.88687624
49	CAMKK2	0.88018664
50	HCK	0.87939024
51	WNK4	0.87091608
52	VRK2	0.83367180
53	MAP2K6	0.78544863
54	IGF1R	0.78412964
55	SIK3	0.78345514
56	CHUK	0.77795178
57	RET	0.77759549
58	LYN	0.75470019
59	MAPKAPK3	0.74252106
60	MAP4K1	0.72466303
61	IRAK4	0.68700894
62	MELK	0.66200835
63	ADRBK1	0.64807402
64	IKBKE	0.63423604
65	DAPK1	0.59902374
66	STK10	0.58110631
67	MET	0.54766948
68	CHEK2	0.53668697
69	SYK	0.52202411
70	GRK7	0.50468284
71	MAPKAPK2	0.50196383
72	BRSK2	0.50006039
73	CDK3	0.48838808
74	EIF2AK2	0.48396730
75	PDPK1	0.47552358
76	BTK	0.47322059
77	VRK1	0.45574293
78	PTK6	0.45549371
79	CLK1	0.41809660
80	BRSK1	0.39960434
81	ABL1	0.39295528
82	MARK3	0.39148573
83	MAP2K3	0.38826297
84	RPS6KA5	0.37860529
85	TAF1	0.37530043
86	ITK	0.36713160
87	TGFBR1	0.35593854
88	PNCK	0.34451618
89	EPHA2	0.34046137
90	GRK1	0.32644170
91	PAK4	0.32503763
92	JAK3	0.32358846
93	NUAK1	0.32175238
94	TBK1	0.31662201
95	PRKACB	0.31467554
96	TGFBR2	0.30998184
97	PAK1	0.30445568
98	PDK1	0.29290996
99	PRKCD	0.28953509
100	MAPK1	0.28703434

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Intestinal immune network for IgA production_Homo sapiens_hsa04672	4.45138063
2	Asthma_Homo sapiens_hsa05310	3.96736993
3	Nitrogen metabolism_Homo sapiens_hsa00910	3.72961969
4	Allograft rejection_Homo sapiens_hsa05330	3.28439996
5	Autoimmune thyroid disease_Homo sapiens_hsa05320	3.09803366
6	Graft-versus-host disease_Homo sapiens_hsa05332	3.09007100
7	Type I diabetes mellitus_Homo sapiens_hsa04940	2.51026729
8	Proteasome_Homo sapiens_hsa03050	2.41174310
9	Antigen processing and presentation_Homo sapiens_hsa04612	2.37072811
10	Glycosaminoglycan degradation_Homo sapiens_hsa00531	2.15488772
11	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	2.15386732
12	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.11286718
13	Leishmaniasis_Homo sapiens_hsa05140	1.75198781
14	Rheumatoid arthritis_Homo sapiens_hsa05323	1.74088413
15	Protein export_Homo sapiens_hsa03060	1.72830745
16	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.72095251
17	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.67083497
18	Non-homologous end-joining_Homo sapiens_hsa03450	1.64252035
19	Staphylococcus aureus infection_Homo sapiens_hsa05150	1.63599064
20	Ether lipid metabolism_Homo sapiens_hsa00565	1.50156721
21	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.46747497
22	Other glycan degradation_Homo sapiens_hsa00511	1.46470081
23	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.46360673
24	Primary immunodeficiency_Homo sapiens_hsa05340	1.45262891
25	Toxoplasmosis_Homo sapiens_hsa05145	1.44464724
26	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.43873769
27	ECM-receptor interaction_Homo sapiens_hsa04512	1.41413328
28	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.35998394
29	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.33089628
30	Viral myocarditis_Homo sapiens_hsa05416	1.28868702
31	Fanconi anemia pathway_Homo sapiens_hsa03460	1.24234876
32	Lysosome_Homo sapiens_hsa04142	1.17470089
33	RNA degradation_Homo sapiens_hsa03018	1.13847311
34	NF-kappa B signaling pathway_Homo sapiens_hsa04064	1.13678052
35	Phenylalanine metabolism_Homo sapiens_hsa00360	1.12639273
36	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	1.12323868
37	Hematopoietic cell lineage_Homo sapiens_hsa04640	1.10481644
38	Linoleic acid metabolism_Homo sapiens_hsa00591	1.10124718
39	Homologous recombination_Homo sapiens_hsa03440	1.09739217
40	Tuberculosis_Homo sapiens_hsa05152	1.04859756
41	Herpes simplex infection_Homo sapiens_hsa05168	0.97251342
42	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.95916294
43	African trypanosomiasis_Homo sapiens_hsa05143	0.93836720
44	Caffeine metabolism_Homo sapiens_hsa00232	0.93680484
45	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.93534361
46	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.92824864
47	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.92626061
48	Oxidative phosphorylation_Homo sapiens_hsa00190	0.91731064
49	Chemical carcinogenesis_Homo sapiens_hsa05204	0.89543960
50	Phototransduction_Homo sapiens_hsa04744	0.89331894
51	Lysine degradation_Homo sapiens_hsa00310	0.89260832
52	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.87798563
53	Basal transcription factors_Homo sapiens_hsa03022	0.87699359
54	Regulation of autophagy_Homo sapiens_hsa04140	0.81953652
55	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.80917775
56	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.80830278
57	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.80541457
58	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.80246482
59	Influenza A_Homo sapiens_hsa05164	0.78369305
60	Base excision repair_Homo sapiens_hsa03410	0.75857303
61	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.74174472
62	p53 signaling pathway_Homo sapiens_hsa04115	0.73429758
63	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.71124090
64	Salivary secretion_Homo sapiens_hsa04970	0.69118075
65	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.67270692
66	Circadian rhythm_Homo sapiens_hsa04710	0.65477088
67	Mismatch repair_Homo sapiens_hsa03430	0.58847531
68	Malaria_Homo sapiens_hsa05144	0.56521691
69	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.56482327
70	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.55318462
71	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.55259088
72	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.51931569
73	Histidine metabolism_Homo sapiens_hsa00340	0.51392475
74	beta-Alanine metabolism_Homo sapiens_hsa00410	0.51307243
75	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.50252046
76	Peroxisome_Homo sapiens_hsa04146	0.50171708
77	Toll-like receptor signaling pathway_Homo sapiens_hsa04620	0.50091634
78	RNA polymerase_Homo sapiens_hsa03020	0.47561029
79	Legionellosis_Homo sapiens_hsa05134	0.47312325
80	Nucleotide excision repair_Homo sapiens_hsa03420	0.46520755
81	Tyrosine metabolism_Homo sapiens_hsa00350	0.45784706
82	Protein digestion and absorption_Homo sapiens_hsa04974	0.44873705
83	PPAR signaling pathway_Homo sapiens_hsa03320	0.43672950
84	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.43404280
85	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.42981453
86	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.41826059
87	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.41227039
88	Osteoclast differentiation_Homo sapiens_hsa04380	0.41070710
89	Small cell lung cancer_Homo sapiens_hsa05222	0.40751229
90	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.40095368
91	Spliceosome_Homo sapiens_hsa03040	0.40088215
92	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.39996409
93	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.38839785
94	Phagosome_Homo sapiens_hsa04145	0.38097055
95	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.35225361
96	Hepatitis C_Homo sapiens_hsa05160	0.31745681
97	Measles_Homo sapiens_hsa05162	0.28836882
98	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.24915172
99	Glutathione metabolism_Homo sapiens_hsa00480	0.24762752
100	Sphingolipid metabolism_Homo sapiens_hsa00600	0.24130926

MIA-RAB4B

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

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