VWA2

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 member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cilium or flagellum-dependent cell motility (GO:0001539)7.58326270
2fat-soluble vitamin biosynthetic process (GO:0042362)7.04130797
3axonemal dynein complex assembly (GO:0070286)6.57102684
4desmosome organization (GO:0002934)6.02202695
5cilium movement (GO:0003341)5.66208055
6axoneme assembly (GO:0035082)4.96241189
7epithelial cilium movement (GO:0003351)4.93711998
8epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.80369585
9motile cilium assembly (GO:0044458)4.78861761
10planar cell polarity pathway involved in neural tube closure (GO:0090179)4.70959010
11vitamin transmembrane transport (GO:0035461)4.69460661
12head development (GO:0060322)4.53463081
13cell-substrate junction assembly (GO:0007044)4.44656410
14sperm capacitation (GO:0048240)4.39438268
15regulation of hippo signaling (GO:0035330)4.33472311
16negative regulation of keratinocyte proliferation (GO:0010839)4.32011887
17regulation of transforming growth factor beta2 production (GO:0032909)4.31390015
18regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)4.28253732
19sperm motility (GO:0030317)4.19001723
20protein polyglutamylation (GO:0018095)4.13246244
21cellular ketone body metabolic process (GO:0046950)4.08995408
22outer ear morphogenesis (GO:0042473)4.06350184
23collecting duct development (GO:0072044)3.99857450
24response to pheromone (GO:0019236)3.95162014
25hair cycle (GO:0042633)3.92828903
26molting cycle (GO:0042303)3.92828903
27transepithelial transport (GO:0070633)3.89742096
28eyelid development in camera-type eye (GO:0061029)3.78773089
29lateral sprouting from an epithelium (GO:0060601)3.78134544
30regulation of cilium movement (GO:0003352)3.76236112
31regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.70683723
32G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.70636604
33renal absorption (GO:0070293)3.69903689
34keratinization (GO:0031424)3.68291021
35regulation of water loss via skin (GO:0033561)3.65348623
36wound healing, spreading of cells (GO:0044319)3.64411625
37regulation of hair follicle development (GO:0051797)3.61324588
38establishment of skin barrier (GO:0061436)3.59398809
39establishment of apical/basal cell polarity (GO:0035089)3.59187671
40lung-associated mesenchyme development (GO:0060484)3.58519651
41epidermis development (GO:0008544)3.55663393
42ethanol metabolic process (GO:0006067)3.54757233
43ketone body metabolic process (GO:1902224)3.52208408
44digestive tract morphogenesis (GO:0048546)3.50905281
45positive regulation of dendritic spine morphogenesis (GO:0061003)3.50387198
46inner ear receptor cell differentiation (GO:0060113)3.49857908
47acrosome reaction (GO:0007340)3.49299996
48urate metabolic process (GO:0046415)3.46942298
49multicellular organism reproduction (GO:0032504)3.46433744
50negative regulation of cell fate specification (GO:0009996)3.46294216
51phosphatidylethanolamine biosynthetic process (GO:0006646)3.43160957
52cell surface receptor signaling pathway involved in heart development (GO:0061311)3.41498566
53paraxial mesoderm development (GO:0048339)3.41479227
54positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.39610354
55GPI anchor biosynthetic process (GO:0006506)3.38000604
56regulation of cardioblast differentiation (GO:0051890)3.37005958
57non-canonical Wnt signaling pathway (GO:0035567)3.33644350
58GPI anchor metabolic process (GO:0006505)3.30192289
59positive regulation of odontogenesis (GO:0042482)3.25942990
60atrioventricular valve morphogenesis (GO:0003181)3.25938404
61hair cell differentiation (GO:0035315)3.22949837
62establishment or maintenance of monopolar cell polarity (GO:0061339)3.22544501
63establishment of monopolar cell polarity (GO:0061162)3.22544501
64proximal/distal pattern formation (GO:0009954)3.20464180
65mitotic cell cycle arrest (GO:0071850)3.19685698
66RNA destabilization (GO:0050779)3.19452955
67lung lobe morphogenesis (GO:0060463)3.18413808
68phosphatidylethanolamine metabolic process (GO:0046337)3.16909011
69renal filtration (GO:0097205)3.16277220
70cochlea morphogenesis (GO:0090103)3.15469007
71behavioral response to nicotine (GO:0035095)3.14545161
72cardiac epithelial to mesenchymal transition (GO:0060317)3.13758206
73ethanol oxidation (GO:0006069)3.13051830
74trivalent inorganic anion homeostasis (GO:0072506)3.12400314
75phosphate ion homeostasis (GO:0055062)3.12400314
76microtubule bundle formation (GO:0001578)3.11339766
77piRNA metabolic process (GO:0034587)3.09799976
78wound healing, spreading of epidermal cells (GO:0035313)3.09407106
79ear development (GO:0043583)3.09101981
80multicellular organismal water homeostasis (GO:0050891)3.09015856
81fucose catabolic process (GO:0019317)3.08591293
82L-fucose metabolic process (GO:0042354)3.08591293
83L-fucose catabolic process (GO:0042355)3.08591293
84auditory receptor cell differentiation (GO:0042491)3.07941973
85keratinocyte differentiation (GO:0030216)3.07486529
86keratinocyte proliferation (GO:0043616)3.06854320
87drug catabolic process (GO:0042737)3.06539109
88cilium organization (GO:0044782)3.06469287
89calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.05944972
90water homeostasis (GO:0030104)3.05363006
91photoreceptor cell maintenance (GO:0045494)3.04546075
92regulation of posttranscriptional gene silencing (GO:0060147)3.04146046
93regulation of gene silencing by miRNA (GO:0060964)3.04146046
94regulation of gene silencing by RNA (GO:0060966)3.04146046
95bundle of His cell to Purkinje myocyte communication (GO:0086069)3.02616335
96prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060523.02127617
97Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.01880895
98regulation of keratinocyte proliferation (GO:0010837)3.01342129
99odontogenesis (GO:0042476)3.01167700
100regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.00162798
101response to UV-C (GO:0010225)2.99209354
102left/right axis specification (GO:0070986)2.98944389
103negative regulation of T cell differentiation in thymus (GO:0033085)2.97967914
104carnitine transmembrane transport (GO:1902603)2.97556184
105nephron tubule development (GO:0072080)2.97548999
106neurotransmitter biosynthetic process (GO:0042136)2.96891800
107cilium assembly (GO:0042384)2.96579774
108positive regulation of fatty acid transport (GO:2000193)2.96361452
109positive regulation of hair cycle (GO:0042635)2.96141136
110positive regulation of hair follicle development (GO:0051798)2.96141136
111anterior/posterior axis specification, embryo (GO:0008595)2.95691797
112histone H3-K9 methylation (GO:0051567)2.95341486
113cellular response to vitamin D (GO:0071305)2.95241932
114negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.94559997
115pattern specification involved in kidney development (GO:0061004)2.94398631
116modified amino acid transport (GO:0072337)2.94298399
117heart trabecula formation (GO:0060347)2.94267610
118regulation of apoptotic process involved in morphogenesis (GO:1902337)2.93943476
119branching involved in prostate gland morphogenesis (GO:0060442)2.92881447
120establishment of tissue polarity (GO:0007164)2.92438346
121establishment of planar polarity (GO:0001736)2.92438346
122positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.91843008
123glomerular filtration (GO:0003094)2.91517764
124renal system development (GO:0072001)2.89675193
125negative regulation of cell fate commitment (GO:0010454)2.88822433
126regulation of cell fate specification (GO:0042659)2.88067199
127exogenous drug catabolic process (GO:0042738)2.87950742
128epidermal cell differentiation (GO:0009913)2.87449135
129negative regulation of hormone metabolic process (GO:0032351)2.87342128
130negative regulation of hormone biosynthetic process (GO:0032353)2.87342128
131establishment of epithelial cell polarity (GO:0090162)2.86992920
132dorsal/ventral axis specification (GO:0009950)2.86716034
133trabecula formation (GO:0060343)2.85093143
134excretion (GO:0007588)2.84301690
135organic cation transport (GO:0015695)2.83787436
136vascular endothelial growth factor signaling pathway (GO:0038084)2.83319182
137regulation of establishment of planar polarity (GO:0090175)2.83237601
138nephron epithelium development (GO:0072009)2.83135941
139odontogenesis of dentin-containing tooth (GO:0042475)2.82869437
140polyol transport (GO:0015791)2.82463255
141phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.81817421
142regulation of mesenchymal cell apoptotic process (GO:2001053)2.81166888
143fatty acid transmembrane transport (GO:1902001)2.80909780
144carnitine shuttle (GO:0006853)2.79668565
145nephron tubule formation (GO:0072079)2.79544395
146definitive hemopoiesis (GO:0060216)2.78848679
147intestinal epithelial cell development (GO:0060576)2.78253067
148regulation of heart morphogenesis (GO:2000826)2.77610167
149cranial nerve morphogenesis (GO:0021602)2.77339031
150lymph vessel development (GO:0001945)2.76704975
151regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)2.76249813
152regulation of glucocorticoid metabolic process (GO:0031943)2.76098991
153interferon-gamma secretion (GO:0072643)2.75728481
154notochord development (GO:0030903)2.75185683
155regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901212.74724803
156regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)2.74186048
157positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO2.74186048
158positive regulation of icosanoid secretion (GO:0032305)2.73477231
159quaternary ammonium group transport (GO:0015697)2.73409455
160lung epithelium development (GO:0060428)2.73063944
161carnitine transport (GO:0015879)2.72858650
162amino-acid betaine transport (GO:0015838)2.72858650
163heart valve morphogenesis (GO:0003179)2.72050650
164mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.71103742
165reproduction (GO:0000003)2.68497529
166peptidyl-tyrosine autophosphorylation (GO:0038083)2.65512035
167preassembly of GPI anchor in ER membrane (GO:0016254)2.65065775
168left/right pattern formation (GO:0060972)2.63153739
169lung secretory cell differentiation (GO:0061140)2.63032273
170DNA methylation involved in gamete generation (GO:0043046)2.62857076
171positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)2.62133489
172regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)2.62133489
173early endosome to late endosome transport (GO:0045022)2.61511622
174intraciliary transport (GO:0042073)2.61426176
175one-carbon compound transport (GO:0019755)2.58419912
176nephron epithelium morphogenesis (GO:0072088)2.57032953
177nephron tubule morphogenesis (GO:0072078)2.57032953
178auditory receptor cell stereocilium organization (GO:0060088)2.56205095
179retinal cone cell development (GO:0046549)2.55264385
180epithelial cell maturation (GO:0002070)2.53862193
181polarized epithelial cell differentiation (GO:0030859)2.53162678
182spermatid development (GO:0007286)2.53154469
183bicarbonate transport (GO:0015701)2.50281048
184negative regulation of B cell apoptotic process (GO:0002903)2.49969817
185negative regulation of translation, ncRNA-mediated (GO:0040033)2.49473796
186regulation of translation, ncRNA-mediated (GO:0045974)2.49473796
187negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.49473796
188negative regulation of Rho protein signal transduction (GO:0035024)2.48835898
189L-serine transport (GO:0015825)2.47640305
190hemidesmosome assembly (GO:0031581)11.0886384

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT6_21828071_ChIP-Seq_BEAS2B_Human4.51533268
2TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.72113499
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.47234885
4* SOX9_24532713_ChIP-Seq_HFSC_Mouse3.42618143
5TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.31640752
6ESR1_21235772_ChIP-Seq_MCF-7_Human3.07159350
7ZNF274_21170338_ChIP-Seq_K562_Hela3.05722018
8ESR1_20079471_ChIP-ChIP_T-47D_Human2.66835784
9TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.65969271
10EZH2_22144423_ChIP-Seq_EOC_Human2.65554957
11SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.60595896
12FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.57355867
13PIAS1_25552417_ChIP-Seq_VCAP_Human2.52560838
14DROSHA_22980978_ChIP-Seq_HELA_Human2.51979624
15ESR2_21235772_ChIP-Seq_MCF-7_Human2.42949385
16CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.28231130
17TP63_17297297_ChIP-ChIP_HaCaT_Human11.9760872
18PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.94245328
19* AR_21909140_ChIP-Seq_LNCAP_Human1.88260675
20RARG_19884340_ChIP-ChIP_MEFs_Mouse1.79378026
21TP53_20018659_ChIP-ChIP_R1E_Mouse1.79058006
22SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.78286532
23SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.78286532
24CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.73885307
25* AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.70168953
26TCF3_18692474_ChIP-Seq_MEFs_Mouse1.68989343
27VDR_22108803_ChIP-Seq_LS180_Human1.66254178
28HIF1A_21447827_ChIP-Seq_MCF-7_Human1.66059272
29FOXO3_23340844_ChIP-Seq_DLD1_Human1.65415449
30KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.62976861
31P63_26484246_Chip-Seq_KERATINOCYTES_Human1.62154197
32ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.60504292
33CLOCK_20551151_ChIP-Seq_293T_Human1.58669812
34ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.58313074
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.56586978
36ARNT_22903824_ChIP-Seq_MCF-7_Human1.55343958
37WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.50345095
38* FOXA1_25552417_ChIP-Seq_VCAP_Human1.50046648
39ER_23166858_ChIP-Seq_MCF-7_Human1.46973878
40NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.46937885
41GATA4_25053715_ChIP-Seq_YYC3_Human1.45640534
42FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.44901077
43NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.42082031
44UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.41033537
45GATA3_21878914_ChIP-Seq_MCF-7_Human1.40963495
46FOXM1_23109430_ChIP-Seq_U2OS_Human1.39919675
47RACK7_27058665_Chip-Seq_MCF-7_Human1.39600168
48ELK3_25401928_ChIP-Seq_HUVEC_Human1.37503699
49ERA_21632823_ChIP-Seq_H3396_Human1.34396461
50ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.33313884
51TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.32506841
52OCT4_20526341_ChIP-Seq_ESCs_Human1.32440287
53ISL1_27105846_Chip-Seq_CPCs_Mouse1.32345561
54CDX2_20551321_ChIP-Seq_CACO-2_Human1.31188193
55CJUN_26792858_Chip-Seq_BT549_Human1.31069251
56ATF3_27146783_Chip-Seq_COLON_Human1.31046414
57KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.29891981
58KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.29891981
59KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.29891981
60ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.29135605
61TCF3_18692474_ChIP-Seq_MESCs_Mouse1.28888669
62ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.28366388
63EZH2_27294783_Chip-Seq_ESCs_Mouse1.27894289
64GATA6_25053715_ChIP-Seq_YYC3_Human1.27638428
65ZNF263_19887448_ChIP-Seq_K562_Human1.26901937
66UBF1/2_26484160_Chip-Seq_HMECs_Human1.26771513
67ZFP281_18757296_ChIP-ChIP_E14_Mouse1.26044494
68P53_21459846_ChIP-Seq_SAOS-2_Human1.25969777
69GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25695418
70EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.25537590
71AR_21572438_ChIP-Seq_LNCaP_Human1.25211935
72PCGF2_27294783_Chip-Seq_NPCs_Mouse1.25097992
73CTBP1_25329375_ChIP-Seq_LNCAP_Human1.21983958
74CTBP2_25329375_ChIP-Seq_LNCAP_Human1.21177967
75E2F1_20622854_ChIP-Seq_HELA_Human1.20990530
76KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.20507189
77BCL6_27268052_Chip-Seq_Bcells_Human1.20298867
78GBX2_23144817_ChIP-Seq_PC3_Human1.20159273
79HOXB7_26014856_ChIP-Seq_BT474_Human1.20093210
80P68_20966046_ChIP-Seq_HELA_Human1.19787012
81TRIM28_21343339_ChIP-Seq_HEK293_Human1.19645581
82SALL1_21062744_ChIP-ChIP_HESCs_Human1.19563995
83* AR_20517297_ChIP-Seq_VCAP_Human1.19386703
84KLF5_25053715_ChIP-Seq_YYC3_Human1.19217334
85AR_25329375_ChIP-Seq_VCAP_Human1.19213716
86RAC3_21632823_ChIP-Seq_H3396_Human1.18916224
87SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.18587944
88EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.18491403
89TDRD3_21172665_ChIP-Seq_MCF-7_Human1.18452772
90AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18155003
91ERG_21242973_ChIP-ChIP_JURKAT_Human1.17506929
92SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.17501537
93HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.16942740
94FOXH1_21741376_ChIP-Seq_ESCs_Human1.15915122
95* EED_16625203_ChIP-ChIP_MESCs_Mouse1.14798998
96SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.14546583
97EZH2_18974828_ChIP-Seq_MESCs_Mouse1.14310995
98RNF2_18974828_ChIP-Seq_MESCs_Mouse1.14310995
99EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.14215576
100RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.14072717
101ZNF217_24962896_ChIP-Seq_MCF-7_Human1.13659204
102FOXA1_25329375_ChIP-Seq_VCAP_Human1.13623280
103FOXA1_27270436_Chip-Seq_PROSTATE_Human1.13623280
104CBP_20019798_ChIP-Seq_JUKART_Human1.13552277
105IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.13552277
106PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.13011684
107PHF8_20622854_ChIP-Seq_HELA_Human1.12552701
108* TAF2_19829295_ChIP-Seq_ESCs_Human1.10419334
109CDX2_22108803_ChIP-Seq_LS180_Human1.10132121
110RING1B_27294783_Chip-Seq_NPCs_Mouse1.09703541
111NANOG_20526341_ChIP-Seq_ESCs_Human1.09483119
112STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.09454312
113SUZ12_27294783_Chip-Seq_ESCs_Mouse1.08967371
114TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.08885192
115CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.08839444
116* P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.08580806
117PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.08280023
118P300_27268052_Chip-Seq_Bcells_Human1.07892508
119WDR5_24793694_ChIP-Seq_LNCAP_Human1.07158108
120PPAR_26484153_Chip-Seq_NCI-H1993_Human1.06382629
121EP300_21415370_ChIP-Seq_HL-1_Mouse1.06253930
122KDM2B_26808549_Chip-Seq_K562_Human1.06234721
123TCF4_22108803_ChIP-Seq_LS180_Human1.06035802
124FLI1_27457419_Chip-Seq_LIVER_Mouse1.05952575
125FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.05227889
126RUNX1_27514584_Chip-Seq_MCF-7_Human1.04731137
127SMAD4_21741376_ChIP-Seq_HESCs_Human1.04615411
128BCOR_27268052_Chip-Seq_Bcells_Human1.04545897
129* TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.04223209
130PCGF2_27294783_Chip-Seq_ESCs_Mouse1.03603738
131* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.03124116
132STAT1_20625510_ChIP-Seq_HELA_Human1.03030106
133* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.02429974
134BCAT_22108803_ChIP-Seq_LS180_Human1.01653825
135TP63_22573176_ChIP-Seq_HFKS_Human1.01054806
136ZFP281_27345836_Chip-Seq_ESCs_Mouse1.00814370
137NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.00770960
138TCF4_18268006_ChIP-ChIP_LS174T_Human1.00308478
139GATA3_24758297_ChIP-Seq_MCF-7_Human0.99926149
140TP53_22573176_ChIP-Seq_HFKS_Human0.98410784
141FOXA1_21572438_ChIP-Seq_LNCaP_Human0.98384909
142OCT1_27270436_Chip-Seq_PROSTATE_Human0.97843646
143SMAD4_21741376_ChIP-Seq_EPCs_Human0.97679893
144* CEBPB_22108803_ChIP-Seq_LS180_Human0.97554309
145MYC_19079543_ChIP-ChIP_MESCs_Mouse0.96919248
146KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.96624116
147SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.95986208
148NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95822054
149* RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.95287828
150KDM2B_26808549_Chip-Seq_SUP-B15_Human0.95208777
151TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95166754
152ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.94856319
153ELF1_20517297_ChIP-Seq_JURKAT_Human0.94766725
154EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.94557011
155EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.94300373
156RUNX2_22187159_ChIP-Seq_PCA_Human0.94245492
157SMAD3_21741376_ChIP-Seq_HESCs_Human0.93991136
158NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.93620807
159CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.91540807
160P300_27058665_Chip-Seq_ZR-75-30cells_Human0.91379211
161SOX2_27498859_Chip-Seq_STOMACH_Mouse0.90817123
162NANOG_18692474_ChIP-Seq_MEFs_Mouse0.89327575
163CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.88777102
164HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.87434283
165EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.87333065
166SOX2_20726797_ChIP-Seq_SW620_Human0.87274731
167KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.87132649
168ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.86064683
169SOX2_18555785_ChIP-Seq_MESCs_Mouse0.85919836
170* TP63_23658742_ChIP-Seq_EP156T_Human0.84778692
171KDM2B_26808549_Chip-Seq_JURKAT_Human0.82418558
172AHR_22903824_ChIP-Seq_MCF-7_Human0.81245066
173SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.81139885
174POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.81110257
175PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.81068709
176TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.80787407
177CTCF_27219007_Chip-Seq_Bcells_Human0.80679195
178SA1_27219007_Chip-Seq_ERYTHROID_Human0.79740049
179* JARID2_20064375_ChIP-Seq_MESCs_Mouse0.79637978
180RXR_22108803_ChIP-Seq_LS180_Human0.78828914

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle4.22602210
2MP0000579_abnormal_nail_morphology3.50587593
3MP0000383_abnormal_hair_follicle3.35544471
4MP0002163_abnormal_gland_morphology3.25661398
5MP0002254_reproductive_system_inflammat3.04630979
6MP0010678_abnormal_skin_adnexa3.00967993
7MP0003705_abnormal_hypodermis_morpholog2.99403788
8MP0005645_abnormal_hypothalamus_physiol2.98842899
9MP0005410_abnormal_fertilization2.95007402
10MP0002796_impaired_skin_barrier2.87420033
11MP0000762_abnormal_tongue_morphology2.80406122
12MP0002138_abnormal_hepatobiliary_system2.75181717
13MP0003941_abnormal_skin_development2.69168741
14MP0005451_abnormal_body_composition2.67100479
15MP0010030_abnormal_orbit_morphology2.64210178
16MP0004019_abnormal_vitamin_homeostasis2.57368505
17MP0002098_abnormal_vibrissa_morphology2.57363941
18MP0001849_ear_inflammation2.49076923
19MP0003878_abnormal_ear_physiology2.47561582
20MP0005377_hearing/vestibular/ear_phenot2.47561582
21MP0002249_abnormal_larynx_morphology2.35764620
22MP0002060_abnormal_skin_morphology2.35656862
23MP0002277_abnormal_respiratory_mucosa2.29382713
24MP0000678_abnormal_parathyroid_gland2.23438537
25MP0006054_spinal_hemorrhage2.21821663
26MP0005379_endocrine/exocrine_gland_phen2.19963614
27MP0000537_abnormal_urethra_morphology2.13734812
28MP0001216_abnormal_epidermal_layer2.06944012
29MP0000467_abnormal_esophagus_morphology2.03546194
30MP0005275_abnormal_skin_tensile1.99655218
31MP0008875_abnormal_xenobiotic_pharmacok1.95433607
32MP0008872_abnormal_physiological_respon1.91431486
33MP0002166_altered_tumor_susceptibility1.89954605
34MP0005501_abnormal_skin_physiology1.89907460
35MP0003283_abnormal_digestive_organ1.86352921
36MP0002909_abnormal_adrenal_gland1.85640836
37MP0005670_abnormal_white_adipose1.85458921
38MP0000427_abnormal_hair_cycle1.85453532
39MP0001501_abnormal_sleep_pattern1.84782540
40MP0009053_abnormal_anal_canal1.84648135
41MP0004782_abnormal_surfactant_physiolog1.78311303
42MP0001664_abnormal_digestion1.75743498
43MP0003453_abnormal_keratinocyte_physiol1.73783217
44MP0002234_abnormal_pharynx_morphology1.73108930
45MP0005551_abnormal_eye_electrophysiolog1.73065236
46MP0001984_abnormal_olfaction1.70989510
47MP0000377_abnormal_hair_follicle1.68739340
48MP0010386_abnormal_urinary_bladder1.68448587
49MP0003566_abnormal_cell_adhesion1.64182745
50MP0006292_abnormal_olfactory_placode1.62789924
51MP0004381_abnormal_hair_follicle1.61479624
52MP0004145_abnormal_muscle_electrophysio1.59107354
53MP0001873_stomach_inflammation1.59023877
54MP0001485_abnormal_pinna_reflex1.58704787
55MP0010771_integument_phenotype1.58654695
56MP0006276_abnormal_autonomic_nervous1.56715951
57MP0005220_abnormal_exocrine_pancreas1.55486474
58MP0004272_abnormal_basement_membrane1.54561330
59MP0002282_abnormal_trachea_morphology1.52915632
60MP0009379_abnormal_foot_pigmentation1.52670119
61MP0000647_abnormal_sebaceous_gland1.42882222
62MP0001346_abnormal_lacrimal_gland1.42664531
63MP0008995_early_reproductive_senescence1.42485993
64MP0005310_abnormal_salivary_gland1.40043927
65MP0003315_abnormal_perineum_morphology1.39825240
66MP0005085_abnormal_gallbladder_physiolo1.39098648
67MP0002006_tumorigenesis1.39030054
68MP0005076_abnormal_cell_differentiation1.35293902
69MP0009250_abnormal_appendicular_skeleto1.34311866
70MP0004043_abnormal_pH_regulation1.33685097
71MP0005360_urolithiasis1.31058664
72MP0002089_abnormal_postnatal_growth/wei1.30232601
73MP0000462_abnormal_digestive_system1.29967762
74MP0002009_preneoplasia1.29923819
75MP0000538_abnormal_urinary_bladder1.29042088
76MP0005365_abnormal_bile_salt1.29014541
77MP0001756_abnormal_urination1.28901160
78MP0002102_abnormal_ear_morphology1.27231311
79MP0003567_abnormal_fetal_cardiomyocyte1.26199372
80MP0003698_abnormal_male_reproductive1.25216487
81MP0003950_abnormal_plasma_membrane1.24991697
82MP0002928_abnormal_bile_duct1.23871328
83MP0006138_congestive_heart_failure1.23532796
84MP0000566_synostosis1.22828437
85MP0003755_abnormal_palate_morphology1.20678040
86MP0003937_abnormal_limbs/digits/tail_de1.20587975
87MP0000470_abnormal_stomach_morphology1.20290422
88MP0000049_abnormal_middle_ear1.18993990
89MP0001986_abnormal_taste_sensitivity1.14440569
90MP0001502_abnormal_circadian_rhythm1.13556283
91MP0002822_catalepsy1.13251799
92MP0001188_hyperpigmentation1.13061244
93MP0002736_abnormal_nociception_after1.11894425
94MP0002111_abnormal_tail_morphology1.09769708
95MP0001765_abnormal_ion_homeostasis1.07931244
96MP0005253_abnormal_eye_physiology1.07507003
97MP0001340_abnormal_eyelid_morphology1.07143794
98MP0003252_abnormal_bile_duct1.06967843
99MP0004858_abnormal_nervous_system1.06131665
100MP0001191_abnormal_skin_condition1.05641730
101MP0002932_abnormal_joint_morphology1.05553614
102MP0001968_abnormal_touch/_nociception1.05219499
103MP0003300_gastrointestinal_ulcer1.04932989
104MP0004264_abnormal_extraembryonic_tissu1.03396251
105MP0003385_abnormal_body_wall1.03225789
106MP0002557_abnormal_social/conspecific_i1.03004541
107MP0005646_abnormal_pituitary_gland1.02207932
108MP0001243_abnormal_dermal_layer1.02077345
109MP0003935_abnormal_craniofacial_develop1.01803114
110MP0006072_abnormal_retinal_apoptosis1.00622220
111MP0009780_abnormal_chondrocyte_physiolo1.00583346
112MP0005636_abnormal_mineral_homeostasis1.00306412
113MP0009643_abnormal_urine_homeostasis1.00211082
114MP0000733_abnormal_muscle_development1.00135215
115MP0002876_abnormal_thyroid_physiology0.99308406
116MP0000432_abnormal_head_morphology0.99009901
117MP0000631_abnormal_neuroendocrine_gland0.98088966
118MP0005508_abnormal_skeleton_morphology0.97988503
119MP0003942_abnormal_urinary_system0.97520255
120MP0003115_abnormal_respiratory_system0.96107737
121MP0002136_abnormal_kidney_physiology0.94802734
122MP0002233_abnormal_nose_morphology0.91798167
123MP0003045_fibrosis0.91537038
124MP0000465_gastrointestinal_hemorrhage0.91079632
125MP0002139_abnormal_hepatobiliary_system0.90946194
126MP0000026_abnormal_inner_ear0.90403143
127MP0005187_abnormal_penis_morphology0.90063153
128MP0000613_abnormal_salivary_gland0.89890746
129MP0002896_abnormal_bone_mineralization0.88811781
130MP0009931_abnormal_skin_appearance0.88744233
131MP0001915_intracranial_hemorrhage0.87932560
132MP0002109_abnormal_limb_morphology0.87649013
133MP0000230_abnormal_systemic_arterial0.87305859
134MP0001929_abnormal_gametogenesis0.86438541
135MP0003718_maternal_effect0.86147282
136MP0000534_abnormal_ureter_morphology0.85884777
137MP0000627_abnormal_mammary_gland0.85878810
138MP0005257_abnormal_intraocular_pressure0.84426226
139MP0000516_abnormal_urinary_system0.83805975
140MP0005367_renal/urinary_system_phenotyp0.83805975
141MP0003866_abnormal_defecation0.83777181
142MP0005647_abnormal_sex_gland0.83735791
143MP0002116_abnormal_craniofacial_bone0.81943595
144MP0002653_abnormal_ependyma_morphology0.80919481
145MP0001270_distended_abdomen0.80696424
146MP0002115_abnormal_skeleton_extremities0.80487033
147MP0002132_abnormal_respiratory_system0.79938042
148MP0008961_abnormal_basal_metabolism0.79448238
149MP0010352_gastrointestinal_tract_polyps0.79434836
150MP0003011_delayed_dark_adaptation0.78387957
151MP0004133_heterotaxia0.76929218
152MP0002177_abnormal_outer_ear0.76907290
153MP0000477_abnormal_intestine_morphology0.76774471
154MP0010368_abnormal_lymphatic_system0.76755017
155MP0002735_abnormal_chemical_nociception0.76483618
156MP0008789_abnormal_olfactory_epithelium0.75955375
157MP0002733_abnormal_thermal_nociception0.75527851
158MP0002084_abnormal_developmental_patter0.74990213
159MP0004185_abnormal_adipocyte_glucose0.74621197
160MP0000163_abnormal_cartilage_morphology0.74526871
161MP0002085_abnormal_embryonic_tissue0.73961547
162MP0002108_abnormal_muscle_morphology0.72901164
163MP0000428_abnormal_craniofacial_morphol0.72519450
164MP0005409_darkened_coat_color0.70386089
165MP0003936_abnormal_reproductive_system0.70284433
166MP0005167_abnormal_blood-brain_barrier0.70144780
167MP0003646_muscle_fatigue0.68506031
168MP0002168_other_aberrant_phenotype0.68346744
169MP0001666_abnormal_nutrient_absorption0.67988340
170MP0002697_abnormal_eye_size0.67596844
171MP0000367_abnormal_coat/_hair0.67533264

Predicted human phenotypes

RankGene SetZ-score
1Milia (HP:0001056)7.79182669
2Fragile nails (HP:0001808)5.96517135
3Atrophic scars (HP:0001075)5.68041642
4Respiratory insufficiency due to defective ciliary clearance (HP:0200073)5.27850635
5Abnormal respiratory epithelium morphology (HP:0012253)5.18319054
6Abnormal respiratory motile cilium morphology (HP:0005938)5.18319054
7Dynein arm defect of respiratory motile cilia (HP:0012255)5.11357468
8Absent/shortened dynein arms (HP:0200106)5.11357468
9Abnormal ciliary motility (HP:0012262)4.76130198
10Onycholysis (HP:0001806)4.75779631
11Abnormal respiratory motile cilium physiology (HP:0012261)4.69602222
12Plantar hyperkeratosis (HP:0007556)4.55078700
13Tetany (HP:0001281)4.44836770
14Chronic bronchitis (HP:0004469)4.38235009
15Down-sloping shoulders (HP:0200021)3.98544352
16Rhinitis (HP:0012384)3.98167784
17Hypotrichosis (HP:0001006)3.86602811
18Bronchiectasis (HP:0002110)3.70559776
19Hypomagnesemia (HP:0002917)3.69729947
20Pili torti (HP:0003777)3.67591098
21Metabolic alkalosis (HP:0200114)3.62768796
22Hyperactive renin-angiotensin system (HP:0000841)3.56108831
23Increased circulating renin level (HP:0000848)3.35691767
24Azoospermia (HP:0000027)3.33481146
25Esophageal atresia (HP:0002032)3.29871555
26Hypokalemic alkalosis (HP:0001949)3.25141743
27Fragile skin (HP:0001030)3.21894647
28Male infertility (HP:0003251)3.14949000
29Pancreatic cysts (HP:0001737)3.09397740
30Ridged nail (HP:0001807)3.07239732
31Ankyloglossia (HP:0010296)3.05825540
32Nephronophthisis (HP:0000090)3.04880532
33Nail dystrophy (HP:0008404)3.03581864
34Decreased circulating renin level (HP:0003351)2.95407765
35Abnormality of magnesium homeostasis (HP:0004921)2.94192371
36Cystic liver disease (HP:0006706)2.93827006
37Bicornuate uterus (HP:0000813)2.89678406
38Absent eyebrow (HP:0002223)2.89155000
39Abnormality of midbrain morphology (HP:0002418)2.86578013
40Molar tooth sign on MRI (HP:0002419)2.86578013
41Short 4th metacarpal (HP:0010044)2.85336634
42Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.85336634
43Abnormality of the renal medulla (HP:0100957)2.82459504
44Hyperkalemia (HP:0002153)2.78667701
45Thick nail (HP:0001805)2.77891006
46Abnormality of chloride homeostasis (HP:0011422)2.77865299
47Congenital sensorineural hearing impairment (HP:0008527)2.74656870
48Abnormality of the 2nd finger (HP:0004100)2.72679113
49Abnormality of the aortic arch (HP:0012303)2.70598919
50Abnormal blistering of the skin (HP:0008066)2.69868934
51Unilateral renal agenesis (HP:0000122)2.68756668
52Infertility (HP:0000789)2.67783438
53Alopecia of scalp (HP:0002293)2.67567483
54True hermaphroditism (HP:0010459)2.65658461
55Tubular atrophy (HP:0000092)2.65427347
56Abnormality of the renal cortex (HP:0011035)2.65351947
57Malnutrition (HP:0004395)2.64375441
58Bronchitis (HP:0012387)2.63731155
59Lip pit (HP:0100267)2.61180132
60Absent eyelashes (HP:0000561)2.60215951
61Tubulointerstitial nephritis (HP:0001970)2.59378533
62Congenital stationary night blindness (HP:0007642)2.55706492
63Abnormality of the axillary hair (HP:0100134)2.55316068
64Abnormality of secondary sexual hair (HP:0009888)2.55316068
65Pancreatic fibrosis (HP:0100732)2.55271056
66Attenuation of retinal blood vessels (HP:0007843)2.54033066
67Hypoplasia of dental enamel (HP:0006297)2.53031390
68Testicular atrophy (HP:0000029)2.51855707
69Palmoplantar hyperkeratosis (HP:0000972)2.51655960
70Polyuria (HP:0000103)2.51187387
71Concave nail (HP:0001598)2.51148945
72Type II lissencephaly (HP:0007260)2.49809697
73Abnormal spermatogenesis (HP:0008669)2.43401058
74Woolly hair (HP:0002224)2.41606788
75Glucose intolerance (HP:0000833)2.40424585
76Palmar hyperkeratosis (HP:0010765)2.39606436
77Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.38527977
78Bony spicule pigmentary retinopathy (HP:0007737)2.37314844
79Shallow orbits (HP:0000586)2.36023167
80Gout (HP:0001997)2.35698077
81Abnormal hair laboratory examination (HP:0003328)2.34908981
82Abnormal urine output (HP:0012590)2.34011615
83Chronic hepatic failure (HP:0100626)2.32880823
84Natal tooth (HP:0000695)2.32454093
85Amelogenesis imperfecta (HP:0000705)2.32100410
86Selective tooth agenesis (HP:0001592)2.30381053
87Advanced eruption of teeth (HP:0006288)2.28854167
88Occipital encephalocele (HP:0002085)2.24683729
89Renal salt wasting (HP:0000127)2.21553717
90Abnormal drinking behavior (HP:0030082)2.19612569
91Polydipsia (HP:0001959)2.19612569
92Genetic anticipation (HP:0003743)2.19451687
93Abnormality of renal excretion (HP:0011036)2.19287043
94Abnormality of the middle phalanges of the toes (HP:0010183)2.19261599
95Abnormality of the 4th metacarpal (HP:0010012)2.18645681
96Distal lower limb muscle weakness (HP:0009053)2.17730891
97Aplasia/hypoplasia of the uterus (HP:0008684)2.14472984
98Aplasia cutis congenita (HP:0001057)2.14400019
99Hypercalciuria (HP:0002150)2.14386348
100Abnormality of the phalanges of the 5th finger (HP:0004213)2.13764712
101Abnormality of the phalanges of the 2nd finger (HP:0009541)2.12041873
102Oligodontia (HP:0000677)2.11677630
103Hypoparathyroidism (HP:0000829)2.11195981
104Pigmentary retinal degeneration (HP:0001146)2.07426316
105Stomach cancer (HP:0012126)2.07371773
106Abnormality of oral frenula (HP:0000190)2.07070946
107Abnormality of the renal collecting system (HP:0004742)2.06765111
108Stage 5 chronic kidney disease (HP:0003774)2.06554399
109Abnormality of the parietal bone (HP:0002696)2.05649535
110Congenital, generalized hypertrichosis (HP:0004540)2.05423349
111Abnormal pancreas size (HP:0012094)2.04104644
112Short phalanx of the thumb (HP:0009660)2.03442878
113Aplasia/Hypoplasia of the tibia (HP:0005772)2.03053866
114Prostate neoplasm (HP:0100787)2.00672143
115Short tibia (HP:0005736)1.98035962
116Right ventricular cardiomyopathy (HP:0011663)1.97620600
117Abnormality of the distal phalanges of the toes (HP:0010182)1.96299374
118Hypodontia (HP:0000668)1.95596276
119Severe Myopia (HP:0011003)1.95508747
120Abnormality of dental color (HP:0011073)1.94601240
121Rectal prolapse (HP:0002035)1.93994359
122Premature rupture of membranes (HP:0001788)1.93442849
123Neonatal short-limb short stature (HP:0008921)1.93123068
124Abnormality of potassium homeostasis (HP:0011042)1.93029525
125Blepharitis (HP:0000498)1.92699793
126Shawl scrotum (HP:0000049)1.91318942
127Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.91124573
128Retinal dysplasia (HP:0007973)1.90372502
129Hyperaldosteronism (HP:0000859)1.90281771
130Bilateral microphthalmos (HP:0007633)1.90245876
131Pendular nystagmus (HP:0012043)1.89664875
132Decreased central vision (HP:0007663)1.88387657
133Bronchomalacia (HP:0002780)1.87164820
134Choanal stenosis (HP:0000452)1.86732959
135Abnormal glucose tolerance (HP:0001952)1.86596007
136Abnormality of renin-angiotensin system (HP:0000847)1.86572553
137Chronic sinusitis (HP:0011109)1.86148420
138Hyperglycinuria (HP:0003108)1.85517552
139Bifid scrotum (HP:0000048)1.84813231
140Severe visual impairment (HP:0001141)1.83429216
141Conical tooth (HP:0000698)1.83192401
142Skin pits (HP:0100276)1.82588206
143Neoplasm of the heart (HP:0100544)1.82523284
144Tubulointerstitial fibrosis (HP:0005576)1.82078023
145Congenital hepatic fibrosis (HP:0002612)1.81453385
146Delayed CNS myelination (HP:0002188)1.80972815
147Duplicated collecting system (HP:0000081)1.80969837
148Tubulointerstitial abnormality (HP:0001969)1.80855248
149Gaze-evoked nystagmus (HP:0000640)1.80019572
150Recurrent otitis media (HP:0000403)1.79562936
151Nasal polyposis (HP:0100582)1.79011261
152Ankle contracture (HP:0006466)1.78065291
153Annular pancreas (HP:0001734)1.76679782
154Dehydration (HP:0001944)1.76497006
155Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.76312087
156Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.76279091
157Abnormality of permanent molar morphology (HP:0011071)1.76157061
158Abnormality of the dental root (HP:0006486)1.76157061
159Taurodontia (HP:0000679)1.76157061
160Male pseudohermaphroditism (HP:0000037)1.76137733
161Sclerocornea (HP:0000647)1.76116063
162Gastrointestinal atresia (HP:0002589)1.76067504
163Abnormality of macular pigmentation (HP:0008002)1.74647967
164Hypoplastic labia majora (HP:0000059)1.74161475
165Anophthalmia (HP:0000528)1.73772176
166Anonychia (HP:0001798)1.72671709
167Cerebellar dysplasia (HP:0007033)1.72097091
168Abnormality of the distal phalanx of the thumb (HP:0009617)1.71712889
169Increased purine levels (HP:0004368)1.71188718
170Hyperuricemia (HP:0002149)1.71188718
171Hypoplasia of the uterus (HP:0000013)1.68064426
172Hypokalemia (HP:0002900)1.67865335
173Hand muscle atrophy (HP:0009130)1.66940350
174Upper limb muscle weakness (HP:0003484)1.66658294
175Ureteral stenosis (HP:0000071)1.66378436
176Follicular hyperkeratosis (HP:0007502)1.65875901
177Abnormal ossification of hand bones (HP:0005921)1.65682336
178Sparse eyelashes (HP:0000653)1.65476031
179Mesangial abnormality (HP:0001966)1.65125879
180Sparse lateral eyebrow (HP:0005338)1.64699620

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LMTK26.86533455
2LATS13.58725553
3WNK33.06071871
4BMX2.99447877
5MAP4K22.79447138
6TAOK32.61458755
7TNK22.25402289
8ZAK2.06598949
9TIE110.9890893
10CAMK1D1.98299902
11EPHA21.97775712
12LATS21.88231053
13GRK11.82842549
14WNK41.82282184
15MAPKAPK31.76719082
16STK38L1.75287893
17FRK1.72677120
18INSRR1.64407389
19EEF2K1.59691187
20OXSR11.56488785
21TTK1.52434795
22BRSK21.50996340
23TSSK61.49558436
24EPHB21.49526672
25TEC1.47866004
26PRKG21.39545418
27TGFBR11.35195667
28CAMK1G1.34553866
29MAP2K21.33634471
30ADRBK21.32750035
31PRKCI1.30628577
32FER1.28563944
33MST1R1.27115302
34NME11.24085331
35RPS6KB21.20659766
36PRKD21.19798623
37PINK11.18458840
38BMPR21.17364417
39MAP3K31.16486229
40MOS1.11758581
41CDK121.11554899
42STK31.07978508
43LRRK21.07484450
44STK101.06630298
45MAP3K101.03519213
46PRKD30.98668496
47TXK0.95599267
48PRKAA10.93603545
49NUAK10.91929749
50MARK20.91645983
51PRKAA20.88116443
52FGFR20.84807278
53ICK0.83965377
54CASK0.81327585
55FGFR10.80265771
56TESK10.79324425
57PAK40.78521720
58MET0.77682164
59AKT20.77552382
60MST40.76814523
61PIM20.75200153
62PTK60.74359391
63TRIB30.74229168
64CDK60.71853966
65NEK20.70930445
66ACVR1B0.70103666
67PTK20.69292402
68MELK0.67671499
69TRPM70.67115104
70CAMK10.66393928
71EPHB10.64630831
72MAP2K10.63702899
73MTOR0.63046353
74STK380.61957133
75CDC70.60591951
76CHUK0.59360692
77PRKCE0.57643118
78DAPK20.57325312
79ERN10.55401933
80MAP3K10.54680157
81CSNK1A10.54145894
82TESK20.53344193
83PAK30.52433781
84CDK80.52281703
85SGK4940.51475816
86SGK2230.51475816
87SMG10.51300781
88GRK50.50800549
89MATK0.50789927
90BMPR1B0.50728724
91MAP3K80.50496070
92FGFR40.50346732
93PRKCQ0.50175586
94NEK60.49400927
95TTN0.48724242
96MAPK150.48019545
97KSR20.47514800
98IKBKB0.46397931
99MAP3K60.45998345
100DAPK10.42656124
101CDK70.42024713
102SGK20.41616138
103RIPK10.41238744
104CSNK1G10.40889895
105ITK0.39795882
106MAP3K20.38864365
107DYRK1B0.38528146
108PKN20.38393620
109PIK3CA0.38194029
110PDGFRA0.38136158
111NEK10.37407939
112IRAK10.37322270
113DYRK20.37050002
114MAP2K60.36424956
115DDR20.36268785
116RPS6KA10.36085875
117PAK20.36035677
118PRKCA0.34337474
119AKT30.34146872
120CSNK1A1L0.34076738
121NLK0.33793111
122VRK20.33755458
123HIPK20.33078073
124ERBB40.32934374
125PLK40.32711174
126PRKCH0.31973654
127ADRBK10.31939613
128AURKB0.31192012
129CSNK1G30.31087623
130MAPKAPK50.30762052
131CSNK1E0.30486289
132EPHA30.29955142
133SGK30.29912352
134PRKCZ0.29391581
135IGF1R0.28871257
136AURKA0.28831758
137BCKDK0.28348477
138SIK10.28227597
139GRK60.28110533
140RPS6KA20.28084324
141STK110.27838039
142KIT0.27544237
143TAOK10.26701072
144ERBB20.26605937
145PHKG20.26516742
146PHKG10.26516742
147KDR0.26393312
148BCR0.26228204
149PASK0.25398999
150CDK40.25139647
151TGFBR20.24897386
152MAPK130.24836791
153MAPKAPK20.24622467
154MAP2K70.24547824
155MAPK110.24412320
156STK240.23576442
157MAPK90.20603631
158MAP3K70.19620130
159GSK3A0.19449834
160STK390.19321529

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000614.63968179
2Basal cell carcinoma_Homo sapiens_hsa052174.42432378
3Hedgehog signaling pathway_Homo sapiens_hsa043403.56325670
4Cyanoamino acid metabolism_Homo sapiens_hsa004603.22113580
5Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.76321528
6Hippo signaling pathway_Homo sapiens_hsa043902.69413952
7Protein digestion and absorption_Homo sapiens_hsa049742.58898432
8Maturity onset diabetes of the young_Homo sapiens_hsa049502.49147814
9ECM-receptor interaction_Homo sapiens_hsa045122.41994250
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.40011645
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.37974139
12Bile secretion_Homo sapiens_hsa049762.26034124
13Notch signaling pathway_Homo sapiens_hsa043302.20704513
14Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045502.07664726
15Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.03494392
16Adherens junction_Homo sapiens_hsa045201.98397095
17TGF-beta signaling pathway_Homo sapiens_hsa043501.96152685
18ABC transporters_Homo sapiens_hsa020101.95986647
192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.92457019
20Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.85818550
21Vitamin digestion and absorption_Homo sapiens_hsa049771.85599551
22Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.82511070
23Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.82372468
24Caffeine metabolism_Homo sapiens_hsa002321.76708155
25Mineral absorption_Homo sapiens_hsa049781.76300261
26Chemical carcinogenesis_Homo sapiens_hsa052041.74933251
27Ovarian steroidogenesis_Homo sapiens_hsa049131.72359619
28Melanogenesis_Homo sapiens_hsa049161.64328454
29Small cell lung cancer_Homo sapiens_hsa052221.63179820
30Phototransduction_Homo sapiens_hsa047441.62684258
31Proteoglycans in cancer_Homo sapiens_hsa052051.59178549
32Circadian rhythm_Homo sapiens_hsa047101.58378180
33Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.57636126
34Taste transduction_Homo sapiens_hsa047421.56116290
35Tight junction_Homo sapiens_hsa045301.51659196
36Nitrogen metabolism_Homo sapiens_hsa009101.49531089
37Ether lipid metabolism_Homo sapiens_hsa005651.48765203
38Wnt signaling pathway_Homo sapiens_hsa043101.44195654
39Butanoate metabolism_Homo sapiens_hsa006501.44019329
40Bladder cancer_Homo sapiens_hsa052191.38003588
41Steroid hormone biosynthesis_Homo sapiens_hsa001401.37545927
42Gastric acid secretion_Homo sapiens_hsa049711.37007623
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.36113139
44MicroRNAs in cancer_Homo sapiens_hsa052061.34765113
45Olfactory transduction_Homo sapiens_hsa047401.34730182
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.33304588
47Salivary secretion_Homo sapiens_hsa049701.27917871
48beta-Alanine metabolism_Homo sapiens_hsa004101.24639813
49Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.22928933
50Phenylalanine metabolism_Homo sapiens_hsa003601.21771082
51Cell cycle_Homo sapiens_hsa041101.18199185
52Lysine degradation_Homo sapiens_hsa003101.15540643
53Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.14973765
54Amoebiasis_Homo sapiens_hsa051461.13946054
55Dorso-ventral axis formation_Homo sapiens_hsa043201.13941494
56Pathways in cancer_Homo sapiens_hsa052001.10719712
57Intestinal immune network for IgA production_Homo sapiens_hsa046721.07992879
58Nicotine addiction_Homo sapiens_hsa050331.07644913
59Focal adhesion_Homo sapiens_hsa045101.07578107
60Type I diabetes mellitus_Homo sapiens_hsa049401.04538978
61Renin secretion_Homo sapiens_hsa049241.03410579
62Fatty acid metabolism_Homo sapiens_hsa012121.02512399
63Rap1 signaling pathway_Homo sapiens_hsa040151.01379020
64Primary immunodeficiency_Homo sapiens_hsa053401.00149387
65Graft-versus-host disease_Homo sapiens_hsa053320.98137947
66Primary bile acid biosynthesis_Homo sapiens_hsa001200.97429953
67PPAR signaling pathway_Homo sapiens_hsa033200.95871096
68Autoimmune thyroid disease_Homo sapiens_hsa053200.95699206
69Pentose and glucuronate interconversions_Homo sapiens_hsa000400.95179108
70Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.95059183
71Glycerophospholipid metabolism_Homo sapiens_hsa005640.94215864
72Ribosome_Homo sapiens_hsa030100.92909578
73Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.92185462
74Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.92174854
75HTLV-I infection_Homo sapiens_hsa051660.90327302
76Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.90203071
77Basal transcription factors_Homo sapiens_hsa030220.89616006
78HIF-1 signaling pathway_Homo sapiens_hsa040660.88915959
79Histidine metabolism_Homo sapiens_hsa003400.88157877
80Propanoate metabolism_Homo sapiens_hsa006400.87690481
81Glutathione metabolism_Homo sapiens_hsa004800.87496949
82PI3K-Akt signaling pathway_Homo sapiens_hsa041510.87250287
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.87057675
84RNA degradation_Homo sapiens_hsa030180.86141578
85Serotonergic synapse_Homo sapiens_hsa047260.85790086
86Tryptophan metabolism_Homo sapiens_hsa003800.85667600
87Pancreatic secretion_Homo sapiens_hsa049720.84623669
88Leukocyte transendothelial migration_Homo sapiens_hsa046700.83346596
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.82478970
90Thyroid hormone synthesis_Homo sapiens_hsa049180.81438248
91Collecting duct acid secretion_Homo sapiens_hsa049660.76820763
92Huntingtons disease_Homo sapiens_hsa050160.76524572
93Vascular smooth muscle contraction_Homo sapiens_hsa042700.76005467
94Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.75507938
95Allograft rejection_Homo sapiens_hsa053300.75016381
96Antigen processing and presentation_Homo sapiens_hsa046120.72207461
97alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.71857255
98Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.70829870
99Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.70429004
100Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.70116415
101Peroxisome_Homo sapiens_hsa041460.68746937
102Fatty acid degradation_Homo sapiens_hsa000710.67705963
103Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.66849958
104Asthma_Homo sapiens_hsa053100.66662412
105Transcriptional misregulation in cancer_Homo sapiens_hsa052020.66475264
106Aldosterone synthesis and secretion_Homo sapiens_hsa049250.66172320
107Estrogen signaling pathway_Homo sapiens_hsa049150.65988433
108Sphingolipid metabolism_Homo sapiens_hsa006000.64479521
109Thyroid cancer_Homo sapiens_hsa052160.64442179
110Vibrio cholerae infection_Homo sapiens_hsa051100.63890772
111Toxoplasmosis_Homo sapiens_hsa051450.63760320
112Insulin secretion_Homo sapiens_hsa049110.63057995
113Biosynthesis of amino acids_Homo sapiens_hsa012300.62842800
114Retinol metabolism_Homo sapiens_hsa008300.62386693
115Axon guidance_Homo sapiens_hsa043600.60850800
116GnRH signaling pathway_Homo sapiens_hsa049120.59420015
117Oocyte meiosis_Homo sapiens_hsa041140.58967397
118Linoleic acid metabolism_Homo sapiens_hsa005910.58371897
119Sulfur metabolism_Homo sapiens_hsa009200.57806567
120Ras signaling pathway_Homo sapiens_hsa040140.56629783
121Prostate cancer_Homo sapiens_hsa052150.56493433
122p53 signaling pathway_Homo sapiens_hsa041150.54866427
123Pancreatic cancer_Homo sapiens_hsa052120.54059719
124Fructose and mannose metabolism_Homo sapiens_hsa000510.54023332
125Circadian entrainment_Homo sapiens_hsa047130.53577445
126Choline metabolism in cancer_Homo sapiens_hsa052310.51643693
127Melanoma_Homo sapiens_hsa052180.51430595
128Calcium signaling pathway_Homo sapiens_hsa040200.50416156
129Endometrial cancer_Homo sapiens_hsa052130.50068880
130Metabolic pathways_Homo sapiens_hsa011000.49593673
131Hepatitis C_Homo sapiens_hsa051600.49165729
132Rheumatoid arthritis_Homo sapiens_hsa053230.46768078
133Colorectal cancer_Homo sapiens_hsa052100.46526032
134One carbon pool by folate_Homo sapiens_hsa006700.45889188
135Cysteine and methionine metabolism_Homo sapiens_hsa002700.45698210
136Selenocompound metabolism_Homo sapiens_hsa004500.45683369
137Sulfur relay system_Homo sapiens_hsa041220.45139256
138Oxidative phosphorylation_Homo sapiens_hsa001900.44053060
139Arginine and proline metabolism_Homo sapiens_hsa003300.42352168
140Thyroid hormone signaling pathway_Homo sapiens_hsa049190.41812527
141Tyrosine metabolism_Homo sapiens_hsa003500.40958750
142AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.39705909
143Arachidonic acid metabolism_Homo sapiens_hsa005900.39533892
144Regulation of autophagy_Homo sapiens_hsa041400.39461184
145Morphine addiction_Homo sapiens_hsa050320.37921013
146Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.37502285
147Steroid biosynthesis_Homo sapiens_hsa001000.37169256
148Chronic myeloid leukemia_Homo sapiens_hsa052200.36125901
149Glucagon signaling pathway_Homo sapiens_hsa049220.35781245
150Glutamatergic synapse_Homo sapiens_hsa047240.35514598
151Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.34318054
152FoxO signaling pathway_Homo sapiens_hsa040680.33688189
153Spliceosome_Homo sapiens_hsa030400.31745231
154Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.31365338
155AMPK signaling pathway_Homo sapiens_hsa041520.30833971
156Renal cell carcinoma_Homo sapiens_hsa052110.29861422
157Longevity regulating pathway - mammal_Homo sapiens_hsa042110.29849899
158Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.29801573
159Glycerolipid metabolism_Homo sapiens_hsa005610.29505553
160Dilated cardiomyopathy_Homo sapiens_hsa054140.28804793
161Carbon metabolism_Homo sapiens_hsa012000.28477726
162Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.27065333
163Carbohydrate digestion and absorption_Homo sapiens_hsa049730.26233853

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