Signaling by Hedgehog

Pathway network for the Signaling by Hedgehog SuperPath

Sources:

Reactome

Pathways in the Signaling by Hedgehog SuperPath

#	Name	Source	Genes
1	Signaling by Hedgehog	Reactome	ADAM17 ADCY1 ADCY10 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADRM1 ARRB1 ARRB2 BOC BTRC CDC73 CDON CSNK1A1 CUL1 CUL3 DERL2 DHH DISP2 DRC4 DYNC2H1 DZIP1 EFCAB7 ERLEC1 EVC EVC2 FUZ GAS1 GLI1 GLI2 GLI3 GNAS GPC5 GPR161 GRK2 GSK3B HHAT HHIP IFT122 IFT140 IFT172 IFT52 IFT57 IFT88 IHH INTU IQCE ITCH KIF3A KIF7 MKS1 NOTUM NUMB OFD1 OS9 P4HB PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PTCH1 RBX1 RPGRIP1L RPS27A SCUBE2 SEL1L SEM1 SHH SKP1 SMO SMURF1 SMURF2 SPOP SPOPL SUFU SYVN1 TTC21B TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA4A TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TULP3 UBA52 UBB UBC ULK3 VCP WDR19 WDR35 (see all 136) (see less)
2	Hedgehog 'off' state	Reactome	ADCY1 ADCY10 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADRM1 BTRC CSNK1A1 CUL1 DYNC2H1 FUZ GLI1 GLI2 GLI3 GNAS GPR161 GSK3B IFT122 IFT140 IFT172 IFT52 IFT57 IFT88 INTU ITCH KIF3A KIF7 MKS1 NUMB OFD1 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PTCH1 RBX1 RPGRIP1L RPS27A SEM1 SKP1 SMO SUFU TTC21B TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA4A TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TULP3 UBA52 UBB UBC WDR19 WDR35 (see all 100) (see less)
3	Hedgehog 'on' state	Reactome	ADRM1 ARRB1 ARRB2 BOC CDC73 CDON CSNK1A1 CUL3 DHH DRC4 DZIP1 EFCAB7 EVC EVC2 GAS1 GLI1 GLI2 GLI3 GPR161 GRK2 HHIP IHH IQCE ITCH KIF3A KIF7 NUMB PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PTCH1 RBX1 RPS27A SEM1 SHH SMO SMURF1 SMURF2 SPOP SPOPL SUFU UBA52 UBB UBC ULK3 (see all 72) (see less)
4	Activation of SMO	Reactome	ARRB1 ARRB2 BOC CDON CSNK1A1 DHH DRC4 EFCAB7 EVC EVC2 GAS1 GRK2 IHH IQCE KIF3A PTCH1 SHH SMO (see all 18) (see less)

Gene overlap in member pathways for Signaling by Hedgehog SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	KIF3A	Kinesin Family Member 3A	Protein Coding	4
2	CSNK1A1	Casein Kinase 1 Alpha 1	Protein Coding	4
3	PTCH1	Patched 1	Protein Coding	4
4	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	4
5	PSMD14	Proteasome 26S Subunit, Non-ATPase 14	Protein Coding	3
6	ADRM1	ADRM1 26S Proteasome Ubiquitin Receptor	Protein Coding	3
7	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	3
8	GRK2	G Protein-Coupled Receptor Kinase 2	Protein Coding	3
9	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	3
10	IQCE	IQ Motif Containing E	Protein Coding	3
11	GPR161	G Protein-Coupled Receptor 161	Protein Coding	3
12	GAS1	Growth Arrest Specific 1	Protein Coding	3
13	DRC4	Dynein Regulatory Complex Subunit 4	Protein Coding	3
14	GLI1	GLI Family Zinc Finger 1	Protein Coding	3
15	GLI2	GLI Family Zinc Finger 2	Protein Coding	3
16	GLI3	GLI Family Zinc Finger 3	Protein Coding	3
17	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	3
18	KIF7	Kinesin Family Member 7	Protein Coding	3
19	ARRB1	Arrestin Beta 1	Protein Coding	3
20	ARRB2	Arrestin Beta 2	Protein Coding	3
21	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	3
22	CDON	Cell Adhesion Associated, Oncogene Regulated	Protein Coding	3
23	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	3
24	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	3
25	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	3
26	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	3
27	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	3
28	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	3
29	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	3
30	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	3
31	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	3
32	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	3
33	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	3
34	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	3
35	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	3
36	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	3
37	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	3
38	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	3
39	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	3
40	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	3
41	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	3
42	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	3
43	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	3
44	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	3
45	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	3
46	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	3
47	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	3
48	PSMD8	Proteasome 26S Subunit, Non-ATPase 8	Protein Coding	3
49	PSMD11	Proteasome 26S Subunit, Non-ATPase 11	Protein Coding	3
50	PSMD12	Proteasome 26S Subunit, Non-ATPase 12	Protein Coding	3
51	PSMD13	Proteasome 26S Subunit, Non-ATPase 13	Protein Coding	3
52	RPS27A	Ribosomal Protein S27a	Protein Coding	3
53	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	3
54	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	3
55	UBB	Ubiquitin B	Protein Coding	3
56	UBC	Ubiquitin C	Protein Coding	3
57	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	3
58	ITCH	Itchy E3 Ubiquitin Protein Ligase	Protein Coding	3
59	EFCAB7	EF-Hand Calcium Binding Domain 7	Protein Coding	3
60	NUMB	NUMB Endocytic Adaptor Protein	Protein Coding	3
61	BOC	BOC Cell Adhesion Associated, Oncogene Regulated	Protein Coding	3
62	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	3
63	RBX1	Ring-Box 1	Protein Coding	3
64	TUBA1B	Tubulin Alpha 1b	Protein Coding	2
65	TUBB3	Tubulin Beta 3 Class III	Protein Coding	2
66	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	2
67	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	2
68	ADCY1	Adenylate Cyclase 1	Protein Coding	2
69	ADCY2	Adenylate Cyclase 2	Protein Coding	2
70	ADCY3	Adenylate Cyclase 3	Protein Coding	2
71	ADCY5	Adenylate Cyclase 5	Protein Coding	2
72	ADCY6	Adenylate Cyclase 6	Protein Coding	2
73	ADCY7	Adenylate Cyclase 7	Protein Coding	2
74	TUBA3D	Tubulin Alpha 3d	Protein Coding	2
75	ADCY8	Adenylate Cyclase 8	Protein Coding	2
76	ADCY9	Adenylate Cyclase 9	Protein Coding	2
77	ADCY4	Adenylate Cyclase 4	Protein Coding	2
78	DZIP1	DAZ Interacting Zinc Finger Protein 1	Protein Coding	2
79	RPGRIP1L	RPGRIP1 Like	Protein Coding	2
80	ULK3	Unc-51 Like Kinase 3	Protein Coding	2
81	IFT172	Intraflagellar Transport 172	Protein Coding	2
82	INTU	Inturned Planar Cell Polarity Protein	Protein Coding	2
83	GNAS	GNAS Complex Locus	Protein Coding	2
84	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	2
85	SPOPL	Speckle Type BTB/POZ Protein Like	Protein Coding	2
86	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	2
87	IFT52	Intraflagellar Transport 52	Protein Coding	2
88	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	2
89	IFT57	Intraflagellar Transport 57	Protein Coding	2
90	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	2
91	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	2
92	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	2
93	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	2
94	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	2
95	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	2
96	IFT122	Intraflagellar Transport 122	Protein Coding	2
97	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	2
98	ADCY10	Adenylate Cyclase 10	Protein Coding	2
99	SMURF1	SMAD Specific E3 Ubiquitin Protein Ligase 1	Protein Coding	2
100	WDR35	WD Repeat Domain 35	Protein Coding	2
101	WDR19	WD Repeat Domain 19	Protein Coding	2
102	HHIP	Hedgehog Interacting Protein	Protein Coding	2
103	SMURF2	SMAD Specific E3 Ubiquitin Protein Ligase 2	Protein Coding	2
104	SKP1	S-Phase Kinase Associated Protein 1	Protein Coding	2
105	TUBA4A	Tubulin Alpha 4a	Protein Coding	2
106	TUBA3C	Tubulin Alpha 3c	Protein Coding	2
107	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	2
108	TULP3	TUB Like Protein 3	Protein Coding	2
109	TUBA1A	Tubulin Alpha 1a	Protein Coding	2
110	CDC73	Cell Division Cycle 73	Protein Coding	2
111	DYNC2H1	Dynein Cytoplasmic 2 Heavy Chain 1	Protein Coding	2
112	TTC21B	Tetratricopeptide Repeat Domain 21B	Protein Coding	2
113	FUZ	Fuzzy Planar Cell Polarity Protein	Protein Coding	2
114	IFT88	Intraflagellar Transport 88	Protein Coding	2
115	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	2
116	SPOP	Speckle Type BTB/POZ Protein	Protein Coding	2
117	CUL3	Cullin 3	Protein Coding	2
118	CUL1	Cullin 1	Protein Coding	2
119	TUBB6	Tubulin Beta 6 Class V	Protein Coding	2
120	TUBA1C	Tubulin Alpha 1c	Protein Coding	2
121	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	2
122	BTRC	Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase	Protein Coding	2
123	IFT140	Intraflagellar Transport 140	Protein Coding	2
124	OS9	OS9 Endoplasmic Reticulum Lectin	Protein Coding	1
125	NOTUM	Notum, Palmitoleoyl-Protein Carboxylesterase	Protein Coding	1
126	GPC5	Glypican 5	Protein Coding	1
127	ERLEC1	Endoplasmic Reticulum Lectin 1	Protein Coding	1
128	P4HB	Prolyl 4-Hydroxylase Subunit Beta	Protein Coding	1
129	DERL2	Derlin 2	Protein Coding	1
130	HHAT	Hedgehog Acyltransferase	Protein Coding	1
131	SCUBE2	Signal Peptide, CUB Domain And EGF Like Domain Containing 2	Protein Coding	1
132	SEL1L	SEL1L Adaptor Subunit Of SYVN1 Ubiquitin Ligase	Protein Coding	1
133	ADAM17	ADAM Metallopeptidase Domain 17	Protein Coding	1
134	VCP	Valosin Containing Protein	Protein Coding	1
135	SYVN1	Synoviolin 1	Protein Coding	1
136	DISP2	Dispatched RND Transporter Family Member 2	Protein Coding	1

Disorders associated with Signaling by Hedgehog SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Microform holoprosencephaly	Enrichment	CDON, GAS1, GLI2, PTCH1, SHH, SUFU	9.74
2	Cranioectodermal dysplasia	Enrichment	IFT122, IFT140, IFT52, WDR19, WDR35	9.37
3	Short-rib thoracic dysplasia 6 with or without polydactyly	Enrichment	DYNC2H1, EVC, EVC2, FUZ, IFT172, TTC21B	9.09
4	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	DYNC2H1, EVC2, GRK2, IFT140, IFT172, TTC21B, WDR19, WDR35	9.02
5	Septopreoptic holoprosencephaly	Enrichment	CDON, GAS1, PTCH1, SHH	8.53
6	Midline interhemispheric variant of holoprosencephaly	Enrichment	CDON, GAS1, PTCH1, SHH	8.53
7	Jeune thoracic dystrophy	Enrichment	DYNC2H1, EVC2, GRK2, IFT140, TTC21B, WDR19, WDR35	8.44
8	Lobar holoprosencephaly	Enrichment	CDON, GAS1, PTCH1, SHH	8.41
9	Alobar holoprosencephaly	Enrichment	CDON, GAS1, PTCH1, SHH	8.29
10	Short-rib thoracic dysplasia 12	Enrichment	DYNC2H1, EVC2, IFT122, TTC21B, WDR19	8.29
11	Semilobar holoprosencephaly	Enrichment	CDON, GAS1, PTCH1, SHH	8.18
12	Asphyxiating thoracic dystrophy	Enrichment	DYNC2H1, EVC2, GRK2, IFT140, TTC21B, WDR19, WDR35	8.06
13	Ellis-van creveld syndrome	Enrichment	EVC, EVC2, GLI1, PRKACA, PRKACB	7.94
14	Cranioectodermal dysplasia 1	Enrichment	IFT122, IFT140, WDR19, WDR35	7.02
15	Tubulinopathy-associated dysgyria	Enrichment	TUBA1A, TUBB2B, TUBB3	6.41
16	Polydactyly, postaxial, type a1	Enrichment	GLI1, GLI3, IQCE, PTCH1	6.02
17	Tubulinopathy	Enrichment	TUBA1A, TUBB2A, TUBB2B	5.81
18	Short-rib thoracic dysplasia 9 with or without polydactyly	Enrichment	IFT140, IFT172, WDR19	5.41
19	Congenital fibrosis of the extraocular muscles	Enrichment	TUBA1A, TUBB2B, TUBB3	5.12
20	Short rib-polydactyly syndrome	Enrichment	DYNC2H1, IFT52, WDR35	5.12
21	Polydactyly, preaxial ii	Enrichment	PTCH1, SHH	5.00
22	Weyers acrofacial dysostosis	Enrichment	EVC, EVC2	4.60
23	Postaxial polydactyly type b	Enrichment	GLI1, GLI3	4.56
24	Medulloblastoma	Enrichment	GPR161, PTCH1, SUFU	4.30
25	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	4.27
26	Short-rib thoracic dysplasia 7 with or without polydactyly	Enrichment	INTU, WDR35	4.27
27	Acrocallosal syndrome	Enrichment	GLI3, KIF7	4.08
28	Nephronophthisis	Enrichment	IFT140, INTU, TTC21B, WDR19	4.02
29	Macs syndrome	Enrichment	PTCH1, SHH	3.51
30	Orofaciodigital syndrome iii	Enrichment	IFT140, OFD1	3.50
31	Basal cell nevus syndrome 1	Enrichment	PTCH1, SUFU	3.39
32	Lissencephaly	Enrichment	TUBA1A, TUBB2B, TUBB3	3.33
33	Hirschsprung disease 1	Enrichment	GLI3, IHH, SMO	3.32
34	Joubert syndrome 1	Enrichment	IFT172, MKS1, OFD1, RPGRIP1L	3.31
35	Coach syndrome 1	Enrichment	OFD1, RPGRIP1L	3.28
36	Short rib-polydactyly syndrome, verma-naumoff type	Enrichment	DYNC2H1, WDR35	3.28
37	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBA1A, TUBB2B	2.96
38	Holoprosencephaly 3	Enrichment	SHH	2.88
39	46,xy sex reversal 7	Enrichment	DHH	2.88
40	Curry-jones syndrome	Enrichment	SMO	2.88
41	Schilbach-rott syndrome	Enrichment	PTCH1	2.88
42	Microphthalmia/coloboma 5	Enrichment	SHH	2.88
43	Ciliary dyskinesia, primary, 33	Enrichment	DRC4	2.88
44	Acrocapitofemoral dysplasia	Enrichment	IHH	2.88
45	Holoprosencephaly 11	Enrichment	CDON	2.88
46	Turner syndrome	Enrichment	PTCH1	2.88
47	Monosomy 9q22.3	Enrichment	PTCH1	2.88
48	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	2.88
49	Isolated joubert syndrome	Enrichment	MKS1, OFD1, SUFU	2.86
50	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS, OFD1	2.83
51	Isolated split hand-split foot malformation	Enrichment	BTRC, SEM1	2.83
52	Connective tissue disease	Enrichment	OFD1, TTC21B, WDR19	2.78
53	Meningioma	Enrichment	SMO, SUFU	2.75
54	Bilateral perisylvian polymicrogyria	Enrichment	TUBA1A, TUBB2B	2.73
55	Brachydactyly	Enrichment	GNAS, IQCE	2.69
56	Polymicrogyria	Enrichment	OFD1, PSMC3	2.63
57	Pituitary stalk interruption syndrome	Enrichment	CDON, GPR161	2.62
58	Pallister-hall-like syndrome	Enrichment	SMO	2.58
59	46,xy gonadal dysgenesis with minifascicular neuropathy	Enrichment	DHH	2.58
60	Solitary median maxillary central incisor	Enrichment	SHH	2.58
61	Isolated radial hemimelia	Enrichment	SHH	2.58
62	Orofaciodigital syndrome vi	Enrichment	KIF7, OFD1	2.55
63	Meckel syndrome, type 1	Enrichment	EVC2, MKS1, RPGRIP1L	2.53
64	Bardet-biedl syndrome	Enrichment	IFT172, MKS1, RPGRIP1L	2.44
65	Brachydactyly, type a1	Enrichment	IHH	2.40
66	Syndactyly, type iv	Enrichment	SHH	2.40
67	Holoprosencephaly 7	Enrichment	PTCH1	2.40
68	Polydactyly, postaxial, type a7	Enrichment	IQCE	2.40
69	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	2.40
70	Senior-loken syndrome 1	Enrichment	TTC21B, WDR19	2.40
71	Retinitis pigmentosa	Enrichment	IFT122, IFT140, IFT172, IFT88, MKS1, OFD1	2.32
72	Craniosynostosis	Enrichment	GLI2, GLI3	2.30
73	Schizencephaly	Enrichment	SHH	2.28
74	Syndactyly	Enrichment	IQCE	2.28
75	Leber plus disease	Enrichment	IFT140, RPGRIP1L, TUBB4B, WDR19	2.28
76	Pallister-hall syndrome	Enrichment	GLI3	2.28
77	Greig cephalopolysyndactyly syndrome	Enrichment	GLI3	2.28
78	Parathyroid carcinoma	Enrichment	CDC73	2.28
79	Polydactyly, preaxial iv	Enrichment	GLI3	2.28
80	Hydrolethalus syndrome 2	Enrichment	KIF7	2.28
81	Hyperparathyroidism 2 with jaw tumors	Enrichment	CDC73	2.28
82	Polydactyly, preaxial i	Enrichment	GLI1	2.28
83	Pseudohypoaldosteronism, type iie	Enrichment	CUL3	2.28
84	Culler-jones syndrome	Enrichment	GLI2	2.28
85	Nabais sa-de vries syndrome, type 2	Enrichment	SPOP	2.28
86	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	2.28
87	Polydactyly, postaxial, type a8	Enrichment	GLI1	2.28
88	Joubert syndrome 32	Enrichment	SUFU	2.28
89	Stankiewicz-isidor syndrome	Enrichment	PSMD12	2.28
90	Al-gazali-bakalinova syndrome	Enrichment	KIF7	2.28
91	Spermatogenic failure 47	Enrichment	DZIP1	2.28
92	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	2.28
93	Mitral valve prolapse 3	Enrichment	DZIP1	2.28
94	Autoimmune disease, multisystem, with facial dysmorphism	Enrichment	ITCH	2.28
95	Holoprosencephaly 9	Enrichment	GLI2	2.28
96	Nabais sa-de vries syndrome, type 1	Enrichment	SPOP	2.28
97	Cdc73-related disorders	Enrichment	CDC73	2.28
98	Neurodevelopmental disorder with or without autism or seizures	Enrichment	CUL3	2.28
99	Multiple epiphyseal dysplasia, al-gazali type	Enrichment	KIF7	2.28
100	Syndromic multisystem autoimmune disease due to itch deficiency	Enrichment	ITCH	2.28
101	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Enrichment	GLI2	2.28
102	Hydrocephalus, congenital, 1	Enrichment	KIF7, OFD1	2.22
103	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	2.13
104	Retinitis pigmentosa 23	Enrichment	OFD1	2.13
105	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	2.13
106	Simpson-golabi-behmel syndrome, type 2	Enrichment	OFD1	2.13
107	Joubert syndrome 7	Enrichment	RPGRIP1L	2.13
108	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	2.13
109	Carney complex, type 1	Enrichment	PRKAR1A	2.13
110	Osseous heteroplasia, progressive	Enrichment	GNAS	2.13
111	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	2.13
112	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	2.13
113	Senior-loken syndrome 8	Enrichment	WDR19	2.13
114	Deafness, autosomal recessive 44	Enrichment	ADCY1	2.13
115	Cranioectodermal dysplasia 4	Enrichment	WDR19	2.13
116	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	2.13
117	Orofaciodigital syndrome xviii	Enrichment	IFT57	2.13
118	Leber congenital amaurosis with early-onset deafness	Enrichment	TUBB4B	2.13
119	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	2.13
120	Pituitary adenoma 3, multiple types	Enrichment	GNAS	2.13
121	Oocyte/zygote/embryo maturation arrest 24	Enrichment	TUBA1C	2.13
122	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	2.13
123	Myxoma, intracardiac	Enrichment	PRKAR1A	2.13
124	Hepatorenocardiac degenerative fibrosis	Enrichment	TULP3	2.13
125	Coach syndrome 3	Enrichment	RPGRIP1L	2.13
126	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	2.13
127	Spermatogenic failure 72	Enrichment	WDR19	2.13
128	Short-rib thoracic dysplasia 5 with or without polydactyly	Enrichment	WDR19	2.13
129	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	2.13
130	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	2.13
131	Nephronophthisis 13	Enrichment	WDR19	2.13
132	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	2.13
133	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.13
134	Meckel syndrome, type 5	Enrichment	RPGRIP1L	2.13
135	Disorders of gnas inactivation	Enrichment	GNAS	2.13
136	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.13
137	Short-rib thoracic dysplasia 16 with or without polydactyly	Enrichment	IFT52	2.13
138	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	2.13
139	Lung disease	Enrichment	DYNC2H1	2.13
140	Lissencephaly due to tuba1a mutation	Enrichment	TUBA1A	2.13
141	Congenital myopathy 26	Enrichment	TUBA4A	2.13
142	Non-syndromic non-specific multisutural craniosynostosis	Enrichment	FUZ	2.13
143	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	2.13
144	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	2.13
145	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	2.13
146	Idiopathic hypercalciuria	Enrichment	ADCY10	2.13
147	Monostotic fibrous dysplasia	Enrichment	GNAS	2.13
148	Mazabraud syndrome	Enrichment	GNAS	2.13
149	Basal cell carcinoma 1	Enrichment	PTCH1	2.10
150	Retinal degeneration	Enrichment	IQCE	2.03
151	Congenital hydrocephalus	Enrichment	PTCH1	2.03
152	Overgrowth syndrome	Enrichment	PTCH1	2.03
153	Cole-carpenter syndrome 1	Enrichment	P4HB	2.00
154	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	Enrichment	VCP	2.00
155	Nivelon-nivelon-mabille syndrome	Enrichment	HHAT	2.00
156	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Enrichment	VCP	2.00
157	Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies	Enrichment	SEL1L	2.00
158	Multisystem proteinopathy	Enrichment	VCP	2.00
159	Adult-onset distal myopathy due to vcp mutation	Enrichment	VCP	2.00
160	Hyperparathyroidism 1	Enrichment	CDC73	1.98
161	Pseudohypoaldosteronism, type i, autosomal dominant	Enrichment	CUL3	1.98
162	White-sutton syndrome	Enrichment	GLI2	1.98
163	Birk-aharoni syndrome	Enrichment	PSMC1	1.98
164	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4	1.98
165	Tibial hemimelia	Enrichment	GLI3	1.98
166	Synpolydactyly	Enrichment	GLI3	1.98
167	Congenital fibrosarcoma	Enrichment	SUFU	1.98
168	17q24.2 microdeletion syndrome	Enrichment	PSMD12	1.98
169	Basal cell nevus syndrome 2	Enrichment	SUFU	1.98
170	Submucosal cleft palate	Enrichment	UBB	1.98
171	Cleft hard palate	Enrichment	UBB	1.98
172	46,xy complete gonadal dysgenesis	Enrichment	DHH	1.84
173	Dystonia 4, torsion, autosomal dominant	Enrichment	TUBB4A	1.83
174	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.83
175	Hypercalciuria, absorptive, 2	Enrichment	ADCY10	1.83
176	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.83
177	Orofaciodigital syndrome ii	Enrichment	INTU	1.83
178	Spondyloepiphyseal dysplasia tarda, x-linked	Enrichment	OFD1	1.83
179	Orofaciodigital syndrome i	Enrichment	OFD1	1.83
180	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.83
181	Lethal congenital contracture syndrome 8	Enrichment	ADCY6	1.83
182	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.83
183	Bardet-biedl syndrome 22	Enrichment	IFT172	1.83
184	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	TUBA1A	1.83
185	Nephronophthisis 12	Enrichment	TTC21B	1.83
186	Leber congenital amaurosis 6	Enrichment	MKS1	1.83
187	Cranioectodermal dysplasia 2	Enrichment	WDR35	1.83
188	Short-rib thoracic dysplasia 4 with or without polydactyly	Enrichment	TTC21B	1.83
189	Polycystic kidney disease 9	Enrichment	IFT140	1.83
190	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.83
191	Joubert syndrome 10	Enrichment	OFD1	1.83
192	Keratoconus 9	Enrichment	TUBA3D	1.83
193	Usher syndrome, type iv	Enrichment	PRKAR1A	1.83
194	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	TUBA1A	1.83
195	Cranioectodermal dysplasia 5	Enrichment	IFT140	1.83
196	Lissencephaly 3	Enrichment	TUBA1A	1.83
197	Spondyloepiphyseal dysplasia tarda	Enrichment	OFD1	1.83
198	Acrodysostosis	Enrichment	PRKAR1A	1.83
199	Pseudohypoparathyroidism	Enrichment	GNAS	1.83
200	Bardet-biedl syndrome 13	Enrichment	MKS1	1.83
201	Body mass index quantitative trait locus 19	Enrichment	ADCY3	1.83
202	Fibrolamellar carcinoma	Enrichment	PRKACA	1.83
203	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	1.83
204	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.83
205	Joubert syndrome 28	Enrichment	MKS1	1.83
206	Torsion dystonia 4	Enrichment	TUBB4A	1.83
207	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.83
208	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.83
209	Continuous spikes and waves during sleep	Enrichment	TUBA1A	1.83
210	Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	Enrichment	IFT140	1.83
211	Septooptic dysplasia	Enrichment	SHH	1.80
212	Pseudohypoaldosteronism, type iia	Enrichment	CUL3	1.80
213	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4	1.80
214	Uvula, bifid	Enrichment	UBB	1.80
215	Aarskog-scott syndrome	Enrichment	GLI3	1.80
216	Cleft soft palate	Enrichment	UBB	1.80
217	Umbilical hernia	Enrichment	GLI3	1.80
218	Hydrolethalus syndrome	Enrichment	KIF7	1.80
219	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4	1.80
220	Parathyroid adenoma	Enrichment	CDC73	1.80
221	Desmoplastic/nodular medulloblastoma	Enrichment	SUFU	1.80
222	Familial isolated hyperparathyroidism	Enrichment	CDC73	1.80
223	Thyroid hemiagenesis	Enrichment	PSMD3	1.80
224	Microphthalmia/coloboma 12	Enrichment	CDON	1.77
225	Coloboma of macula	Enrichment	CDON	1.70
226	Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia	Enrichment	VCP	1.70
227	Inflammatory skin and bowel disease, neonatal, 1	Enrichment	ADAM17	1.70
228	Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia	Enrichment	SEL1L	1.70
229	Spastic paraplegia-paget disease of bone syndrome	Enrichment	VCP	1.70
230	Hereditary retinal dystrophy	Enrichment	DYNC2H1, IFT140, IFT172, OFD1, TTC21B, WDR19	1.69
231	Fundus dystrophy	Enrichment	DYNC2H1, IFT140, IFT172, OFD1, TTC21B, WDR19	1.69
232	Rhabdomyosarcoma	Enrichment	PTCH1	1.68
233	Oculomotor apraxia	Enrichment	SUFU	1.68
234	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	KIF7	1.68
235	Mccune-albright syndrome	Enrichment	GNAS	1.66
236	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	TUBB1	1.66
237	Simpson-golabi-behmel syndrome, type 1	Enrichment	OFD1	1.66
238	Nephronophthisis 2	Enrichment	TTC21B	1.66
239	Leukodystrophy, hypomyelinating, 6	Enrichment	TUBB4A	1.66
240	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	1.66
241	Orofaciodigital syndrome xvii	Enrichment	INTU	1.66
242	Short-rib thoracic dysplasia 20 with polydactyly	Enrichment	INTU	1.66
243	Retinitis pigmentosa 80	Enrichment	IFT140	1.66
244	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.66
245	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	ADCY6	1.66
246	Microphthalmia	Enrichment	PTCH1	1.54
247	Chorea, benign hereditary	Enrichment	ADCY5	1.54
248	Sacral defect with anterior meningocele	Enrichment	FUZ	1.54
249	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.54
250	Carney complex variant	Enrichment	PRKAR1A	1.54
251	Joubert syndrome 4	Enrichment	RPGRIP1L	1.54
252	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.54
253	Short-rib thoracic dysplasia 10 with or without polydactyly	Enrichment	IFT172	1.54
254	Retinitis pigmentosa 71	Enrichment	IFT172	1.54
255	Bardet-biedl syndrome 20	Enrichment	IFT172	1.54
256	Newborn respiratory distress syndrome	Enrichment	DYNC2H1	1.54
257	Orofaciodigital syndrome	Enrichment	OFD1	1.54
258	Prognathism, mandibular	Enrichment	ERLEC1	1.53
259	Inclusion body myopathy with paget disease of bone and frontotemporal dementia	Enrichment	VCP	1.53
260	Neonatal inflammatory skin and bowel disease	Enrichment	ADAM17	1.53
261	Cole-carpenter syndrome	Enrichment	P4HB	1.53
262	Developmental dysplasia of the hip 1	Enrichment	PSMC3	1.50
263	Patent ductus arteriosus	Enrichment	PSMC3	1.50
264	Inherited cancer-predisposing syndrome	Enrichment	CDC73, PTCH1, SUFU	1.48
265	Cerebral palsy	Enrichment	TUBA1A, TUBB4A	1.48
266	Joubert syndrome with ocular defect	Enrichment	MKS1	1.44
267	Joubert syndrome with jeune asphyxiating thoracic dystrophy	Enrichment	IFT140	1.44
268	Multiple endocrine neoplasia, type i	Enrichment	CDC73	1.44
269	Primary ciliary dyskinesia	Enrichment	DRC4, OFD1, PRKAR1B	1.39
270	Combined pituitary hormone deficiency	Enrichment	GLI2	1.38
271	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B	1.36
272	Adrenocortical carcinoma	Enrichment	PRKAR1A	1.36
273	Early myoclonic encephalopathy	Enrichment	TUBA1A	1.36
274	Dementia, lewy body	Enrichment	VCP	1.31
275	Charcot-marie-tooth disease, axonal, type 2e	Enrichment	VCP	1.31
276	Body mass index quantitative trait locus 11	Enrichment	ADCY3, GNAS	1.28
277	Meningioma, familial	Enrichment	SUFU	1.25
278	Polycystic kidney disease 4 with or without polycystic liver disease	Enrichment	DYNC2H1	1.24
279	Cryptorchidism	Enrichment	TUBA1A	1.24
280	Infantile nephronophthisis	Enrichment	TTC21B	1.24
281	Spastic ataxia	Enrichment	MKS1, TUBB3	1.24
282	Osteogenesis imperfecta, type i	Enrichment	P4HB	1.23
283	Nephrotic syndrome, type 1	Enrichment	TTC21B	1.19
284	Cryptorchidism, unilateral or bilateral	Enrichment	TUBA1A	1.19
285	Polydactyly	Enrichment	MKS1	1.19
286	Cystic kidney disease	Enrichment	IFT140	1.19
287	Primary hyperaldosteronism	Enrichment	GNAS	1.19
288	Diaphragmatic hernia, congenital	Enrichment	GLI3	1.17
289	Bardet-biedl syndrome 1	Enrichment	KIF7	1.17
290	Nk-cell enteropathy	Enrichment	CUL3	1.17
291	Hereditary breast ovarian cancer syndrome	Enrichment	PTCH1	1.15
292	Autosomal dominant macrothrombocytopenia	Enrichment	TUBB1	1.15
293	Primary bone dysplasia	Enrichment	DYNC2H1	1.15
294	Osteochondrodysplasia	Enrichment	DYNC2H1	1.11
295	Ciliopathy	Enrichment	RPGRIP1L	1.11
296	Short-rib thoracic dysplasia 3 with or without polydactyly	Enrichment	DYNC2H1	1.07
297	Congenital hypothyroidism	Enrichment	TUBB1	1.07
298	Progressive non-fluent aphasia	Enrichment	VCP	1.06
299	Behavioral variant of frontotemporal dementia	Enrichment	VCP	1.06
300	Patent foramen ovale	Enrichment	PSMC3	1.04
301	Autism	Enrichment	SHH	1.04
302	Neural tube defects	Enrichment	FUZ	1.04
303	Acute promyelocytic leukemia	Enrichment	PRKAR1A	1.04
304	Chronic kidney disease	Enrichment	MKS1	1.04
305	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	VCP	1.02
306	Osteoporosis	Enrichment	OFD1	1.01
307	Corpus callosum, agenesis of	Enrichment	TUBA1A	0.98
308	Autosomal dominant polycystic kidney disease	Enrichment	IFT140	0.98
309	Isolated corpus callosum agenesis	Enrichment	TUBA1A	0.98
310	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	TUBA1A	0.98
311	Myocardial infarction	Enrichment	PSMA6	0.96
312	Dandy-walker syndrome	Enrichment	TUBA1A	0.93
313	Alzheimer's disease	Enrichment	VCP	0.91
314	Heart, malformation of	Enrichment	DYNC2H1	0.90
315	Polycystic kidney disease	Enrichment	IFT140	0.90
316	Ovarian cancer	Enrichment	PTCH1	0.90
317	Strabismus	Enrichment	KIF7	0.87
318	Complex neurodevelopmental disorder	Enrichment	CUL3, PSMD12	0.85
319	Alzheimer disease, familial, 1	Enrichment	VCP	0.80
320	Cone dystrophy	Enrichment	WDR19	0.79
321	Arteriovenous malformations of the brain	Enrichment	SCUBE2	0.76
322	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	VCP	0.76
323	Auditory neuropathy	Enrichment	TUBB4A	0.76
324	Congenital nervous system abnormality	Enrichment	TUBA1A, TUBB4A	0.74
325	Nervous system disease	Enrichment	TUBA1A, TUBB4A	0.74
326	Hereditary breast carcinoma	Enrichment	CDC73	0.68
327	Microcephaly	Enrichment	PSMC3, TUBB4A	0.64
328	Fetal akinesia deformation sequence 1	Enrichment	TUBA1A	0.62
329	Epilepsy	Enrichment	TTC21B	0.59
330	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GLI2	0.59
331	Nephrotic syndrome	Enrichment	TTC21B	0.56
332	Optic atrophy plus syndrome	Enrichment	TUBB6	0.56
333	West syndrome	Enrichment	TUBA1A	0.56
334	Thrombocytopenia	Enrichment	TUBB1	0.52
335	Breast cancer	Enrichment	CDC73	0.48
336	Autism spectrum disorder	Enrichment	CUL3	0.36
337	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	VCP	0.35
338	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1	0.32

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Signaling by Hedgehog

Pathway Network for Signaling by Hedgehog

Pathway network for the Signaling by Hedgehog SuperPath

Member Pathways for Signaling by Hedgehog

Pathways in the Signaling by Hedgehog SuperPath

Gene overlap in member pathways for Signaling by Hedgehog SuperPath

Associated Genes for Signaling by Hedgehog

Associated Disorders for Signaling by Hedgehog

Disorders associated with Signaling by Hedgehog SuperPath

STRING Interaction Network for Signaling by Hedgehog

Sources for Signaling by Hedgehog