Class A/1 (Rhodopsin-like receptors)

Pathway network for the Class A/1 (Rhodopsin-like receptors) SuperPath

Sources:
  • Reactome
  • WikiPathways

Pathways in the Class A/1 (Rhodopsin-like receptors) SuperPath

#NameSourceGenes
1Class A/1 (Rhodopsin-like receptors)Reactome
(see all 337) (see less)
2GPCR ligand bindingReactome
(see all 470) (see less)
3GPCRs, class A rhodopsin-likeWikiPathways
(see all 261) (see less)
4Peptide ligand-binding receptorsReactome
5Peptide GPCRsWikiPathways

Gene overlap in member pathways for Class A/1 (Rhodopsin-like receptors) SuperPath

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

Disorders associated with Class A/1 (Rhodopsin-like receptors) SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CCR2, CCR5, CX3CR1, CXCL12, CXCR111.62
2Normosmic congenital hypogonadotropic hypogonadismEnrichmentGNRH1, GNRHR, KISS1, KISS1R, PROK2, PROKR2, TAC3, TACR38.33
3Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentGNRHR, KISS1R, PROKR2, TAC3, TACR34.82
4Hypogonadotropic hypogonadismEnrichmentGNRHR, KISS1R, PROKR2, TACR34.37
5Blue cone monochromacyEnrichmentOPN1LW, OPN1MW3.43
6X-linked cone dysfunction syndrome with myopiaEnrichmentOPN1LW, OPN1MW3.43
7Hirschsprung disease 1EnrichmentECE1, EDN3, EDNRB, IHH, PROKR1, SMO3.39
8PseudohypoparathyroidismEnrichmentGNAS, PTH1R2.92
9Genetic central precocious puberty in maleEnrichmentKISS1, KISS1R2.88
10Hypertension, essentialEnrichmentAGT, AGTR1, ECE12.72
11Waardenburg syndrome, type 4aEnrichmentEDN3, EDNRB2.49
12Renal tubular dysgenesisEnrichmentAGT, AGTR12.49
13Brachydactyly, type e1EnrichmentPTH1R, PTHLH2.45
14Osteoporosis, juvenileEnrichmentWNT1, WNT3A2.45
15Familial isolated hypoparathyroidismEnrichmentCASR, PTH2.45
16Kallmann syndromeEnrichmentPROK2, PROKR2, TACR32.33
17Body mass index quantitative trait locus 9EnrichmentMC3R2.26
18Nephrogenic syndrome of inappropriate antidiuresisEnrichmentAVPR22.26
19Diabetes insipidus, nephrogenic, 1, x-linkedEnrichmentAVPR22.26
20White blood cell count quantitative trait locus 1EnrichmentACKR12.26
21Polycystic lung diseaseEnrichmentCCR22.26
22Mandibulofacial dysostosis with alopeciaEnrichmentEDNRA2.26
23Increased analgesia from kappa-opioid receptor agonist, female-specificEnrichmentMC1R2.26
24Whim syndrome 1EnrichmentCXCR42.26
25Ovarian dysgenesis 1EnrichmentFSHR2.26
26Twinning, dizygoticEnrichmentFSHR2.26
27Skin/hair/eye pigmentation, variation in, 2EnrichmentMC1R2.26
28Body mass index quantitative trait locus 20EnrichmentMC4R2.26
29X-linked nephrogenic diabetes insipidusEnrichmentAVPR22.26
30Ovarian hyperstimulation syndromeEnrichmentFSHR2.26
31Hypothyroidism, congenital, nongoitrous, 7EnrichmentTRHR2.26
32AmenorrheaEnrichmentFSHR2.26
33Melanoma, cutaneous malignant 5EnrichmentMC1R2.26
34Type 1 diabetes mellitus 22EnrichmentCCR52.26
35Macular degeneration, age-related, 12EnrichmentCX3CR12.26
36Obesity due to melanocortin 4 receptor deficiencyEnrichmentMC4R2.26
37Whim syndrome 2EnrichmentCXCR22.26
38Isolated gonadotropin-releasing hormone deficiencyEnrichmentGNRHR2.26
39Short stature due to growth hormone secretagogue receptor deficiencyEnrichmentGHSR2.26
40Autosomal recessive severe congenital neutropenia due to cxcr2 deficiencyEnrichmentCXCR22.26
41Body mass index quantitative trait locus 11EnrichmentGHRL, MC3R, MC4R, POMC2.18
42Polydactyly, preaxial iiEnrichmentPTCH1, SHH2.16
43Robinow syndrome, autosomal dominant 1EnrichmentFZD2, WNT5A2.16
44Autosomal dominant robinow syndromeEnrichmentFZD2, WNT5A2.16
45Primary hyperparathyroidismEnrichmentCASR, PTH2.16
46Cryptorchidism, unilateral or bilateralEnrichmentINSL3, RXFP22.13
47InfertilityEnrichmentGNRHR, TAC32.06
48Precocious puberty, male-limitedEnrichmentLHCGR1.96
49Glucocorticoid deficiency 1EnrichmentMC2R1.96
50Aganglionosis, total intestinalEnrichmentEDNRB1.96
51Leydig cell hypoplasia, type iEnrichmentLHCGR1.96
52Abcd syndromeEnrichmentEDNRB1.96
53West nile virusEnrichmentCCR51.96
54Hyperthyroidism, familial gestationalEnrichmentTSHR1.96
55Hypogonadotropic hypogonadism 11 with or without anosmiaEnrichmentTACR31.96
56Growth hormone deficiency, isolated partialEnrichmentGHSR1.96
57Neutropenia, severe congenital, 10, autosomal recessiveEnrichmentGALR21.96
58Leydig cell hypoplasia type iiEnrichmentLHCGR1.96
59Qualitative or quantitative defects of caveolin-3EnrichmentOXTR1.96
60Robinow syndrome, autosomal recessive 1EnrichmentFZD2, WNT5A1.95
61Precocious puberty, central, 1EnrichmentKISS1R1.82
62Diabetes insipidus, neurohypophysealEnrichmentAVP1.82
63High molecular weight kininogen deficiencyEnrichmentKNG11.82
64Hypogonadotropic hypogonadism 3 with or without anosmiaEnrichmentPROKR21.82
65Metachromatic leukodystrophy due to saposin b deficiencyEnrichmentPSAP1.82
66Thyrotropin-releasing hormone deficiencyEnrichmentTRH1.82
67Mcleod syndromeEnrichmentXK1.82
68Complement component 5 deficiencyEnrichmentC51.82
69Prothrombin deficiency, congenitalEnrichmentF21.82
70Blood group--kell systemEnrichmentKEL1.82
71Hemolytic uremic syndrome, atypical 5EnrichmentC31.82
72Hypogonadotropic hypogonadism 8 with or without anosmiaEnrichmentKISS1R1.82
73Epilepsy, familial temporal lobe, 8EnrichmentGAL1.82
74Hirschsprung disease 4EnrichmentEDN31.82
75Eculizumab, poor response toEnrichmentC51.82
76Waardenburg syndrome, type 4bEnrichmentEDN31.82
77Auriculocondylar syndrome 3EnrichmentEDN11.82
78Hypogonadotropic hypogonadism 4 with or without anosmiaEnrichmentPROK21.82
79Angioedema, hereditary, 6EnrichmentKNG11.82
80Parkinson disease 24, autosomal dominantEnrichmentPSAP1.82
81Central diabetes insipidusEnrichmentAVP1.82
82Question mark ears, isolatedEnrichmentEDN11.82
83Cerebral amyloid angiopathy, app-relatedEnrichmentAPP1.82
84Gaucher disease, atypical, due to saposin c deficiencyEnrichmentPSAP1.82
85Hirschsprung disease, cardiac defects, and autonomic dysfunctionEnrichmentECE11.82
86Hypogonadotropic hypogonadism 10 with or without anosmiaEnrichmentTAC31.82
87Hypogonadotropic hypogonadism 13 with or without anosmiaEnrichmentKISS11.82
88Oculomotor-abducens synkinesisEnrichmentACKR31.82
89Macular degeneration, age-related, 9EnrichmentC31.82
90Krabbe disease, atypical, due to saposin a deficiencyEnrichmentPSAP1.82
91Complement component 3 deficiency, autosomal recessiveEnrichmentC31.82
92Pregnancy loss, recurrent 2EnrichmentF21.82
93Serum amyloid a amyloidosisEnrichmentSAA11.82
94Complement component 3 deficiencyEnrichmentC31.82
95NarcolepsyEnrichmentHCRT1.82
96Prothrombin deficiencyEnrichmentF21.82
97Membranoproliferative glomerulonephritisEnrichmentC31.82
98Primary membranoproliferative glomerulonephritisEnrichmentC31.82
99Short sleep, familial natural, 3EnrichmentNPSR11.82
100Hereditary arginine vasopressin deficiencyEnrichmentAVP1.82
101Narcolepsy 1EnrichmentHCRT, P2RY111.81
102Basal cell nevus syndrome 1EnrichmentPTCH1, PTCH21.79
103Basal cell carcinoma 1EnrichmentPTCH1, PTCH21.79
104Autosomal recessive robinow syndromeEnrichmentFZD2, WNT5A1.79
105Hirschsprung disease 2EnrichmentEDNRB1.78
106Rippling muscle disease 2EnrichmentOXTR1.78
107Hyperthyroidism, nonautoimmuneEnrichmentTSHR1.78
108Long qt syndrome 9EnrichmentOXTR1.78
109Hepatitis c virusEnrichmentCCR51.78
110Myopathy, distal, tateyama typeEnrichmentOXTR1.78
111Hypothyroidism, congenital, nongoitrous, 1EnrichmentTSHR1.78
112Gonadal dysgenesisEnrichmentFSHR1.78
113Nephrogenic diabetes insipidusEnrichmentAVPR21.78
114Aggressive periodontitisEnrichmentFPR11.78
115Familial hyperthyroidism due to mutations in tsh receptorEnrichmentTSHR1.78
116Pituitary stalk interruption syndromeEnrichmentKISS1R, PROKR21.74
117Colorblindness, partial, deutan seriesEnrichmentOPN1MW1.72
118Night blindness, congenital stationary, autosomal dominant 1EnrichmentRHO1.72
119Asthma-related traits 1EnrichmentPTGDR1.72
120Resting heart rate, variation inEnrichmentADRB11.72
121Blepharospasm, benign essentialEnrichmentDRD51.72
122Tremor, hereditary essential, 1EnrichmentDRD31.72
123TritanopiaEnrichmentOPN1SW1.72
124C3hex, ability to smellEnrichmentOR2J31.72
125Bleeding disorder, platelet-type, 13EnrichmentTBXA2R1.72
126Colorblindness, partial, protan seriesEnrichmentOPN1LW1.72
127Periodic fever, menstrual cycle-dependentEnrichmentHTR1A1.72
128Retinitis pigmentosa 4EnrichmentRHO1.72
129Short sleep, familial natural, 2EnrichmentADRB11.72
130Amelogenesis imperfecta, hypomaturation type, iia6EnrichmentGPR681.72
131Red-green color blindnessEnrichmentOPN1MW1.72
132Lipodystrophy, familial partial, type 8EnrichmentADRA2A1.72
133Autonomic nervous system diseaseEnrichmentDRD41.72
134Acute encephalopathy with biphasic seizures and late reduced diffusionEnrichmentADORA2A1.72
135Bleeding diathesis due to thromboxane synthesis deficiencyEnrichmentTBXA2R1.72
136BlepharospasmEnrichmentDRD51.72
137Male infertility with spermatogenesis disorderEnrichmentPROK2, PROKR21.69
138Smith-lemli-opitz syndromeEnrichmentTSHR1.66
139Coats diseaseEnrichmentFZD4, RHO1.65
140Creatine phosphokinase, elevated serumEnrichmentOXTR, XK1.63
141Isolated elevated serum creatine phosphokinase levelsEnrichmentOXTR, XK1.63
142Nystagmus 6, congenital, x-linkedEnrichmentGPR1431.60
143Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.60
144Hypothyroidism, congenital, nongoitrous, 4EnrichmentTSHB1.60
145Deafness, autosomal recessive 68EnrichmentS1PR21.60
146Body mass index quantitative trait locus 10EnrichmentFFAR41.60
147Retinitis pigmentosa 44EnrichmentRGR1.60
148Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.60
149Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosisEnrichmentOXGR11.60
150Hemolytic uremic syndrome, atypical 1EnrichmentC3AR11.56
151Albinism, oculocutaneous, type iiEnrichmentMC1R1.56
152PseudohermaphroditismEnrichmentLHCGR1.56
153Familial glucocorticoid deficiencyEnrichmentMC2R1.56
154Diffuse cutaneous systemic sclerosisEnrichmentCCR61.56
155Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP1.53
156N-acetylglutamate synthase deficiencyEnrichmentPYY1.53
157LathosterolosisEnrichmentC51.53
158Spinocerebellar ataxia 23EnrichmentPDYN1.53
159Combined saposin deficiencyEnrichmentPSAP1.53
160Central precocious pubertyEnrichmentKISS1R1.53
161Combined psap deficiencyEnrichmentPSAP1.53
162Macs syndromeEnrichmentPTCH1, SHH, WNT7B1.52
163Limited sclerodermaEnrichmentCCR61.49
164Waardenburg syndromeEnrichmentEDNRB1.49
165Holoprosencephaly 3EnrichmentSHH1.46
166Thiourea tastingEnrichmentTAS2R381.46
167Vibratory urticariaEnrichmentADGRE21.46
168Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.46
169Mullerian aplasia and hyperandrogenismEnrichmentWNT41.46
17046,xy sex reversal 7EnrichmentDHH1.46
171Hypocalcemia, autosomal dominant 1EnrichmentCASR1.46
172Curry-jones syndromeEnrichmentSMO1.46
173Pseudohypoparathyroidism, type icEnrichmentGNAS1.46
17446,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT41.46
175Schilbach-rott syndromeEnrichmentPTCH11.46
176Hypocalciuric hypercalcemia, familial, type iEnrichmentCASR1.46
177Osseous heteroplasia, progressiveEnrichmentGNAS1.46
178Omodysplasia 2EnrichmentFZD21.46
179Microphthalmia/coloboma 5EnrichmentSHH1.46
180Split-hand/foot malformation 6EnrichmentWNT10B1.46
181Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyEnrichmentCD551.46
182Blood group, cromer systemEnrichmentCD551.46
183Tooth agenesis, selective, 8EnrichmentWNT10B1.46
184Spinocerebellar ataxia, autosomal recessive 13EnrichmentGRM11.46
185Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.46
186Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.46
187Pituitary adenoma 3, multiple typesEnrichmentGNAS1.46
188Neurodevelopmental disorder with poor language and loss of hand skillsEnrichmentGABBR21.46
189Developmental and epileptic encephalopathy 59EnrichmentGABBR21.46
190Diarrhea 9EnrichmentWNT2B1.46
191Bone mineral density quantitative trait locus 16EnrichmentWNT11.46
192Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.46
193Acrocapitofemoral dysplasiaEnrichmentIHH1.46
194Santos syndromeEnrichmentWNT7A1.46
195Epilepsy, idiopathic generalized 8EnrichmentCASR1.46
196Brachydactyly, type e2EnrichmentPTHLH1.46
197Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.46
198Microphthalmia/coloboma 11EnrichmentFZD51.46
199Disorders of gnas inactivationEnrichmentGNAS1.46
200Schizophrenia 16EnrichmentVIPR21.46
201Mahvash diseaseEnrichmentGCGR1.46
202Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.46
203Spinocerebellar ataxia 44EnrichmentGRM11.46
204Isolated growth hormone deficiency, type ivEnrichmentGHRHR1.46
205Sick sinus syndrome 4EnrichmentGNB21.46
206Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesEnrichmentGRM71.46
207Beta-glucopyranoside tastingEnrichmentTAS2R161.46
208Neurodevelopmental disorder with language delay and variable cognitive abnormalitiesEnrichmentGABBR11.46
209HypercalcemiaEnrichmentCASR1.46
210Familial hypocalciuric hypercalcemiaEnrichmentCASR1.46
211Turner syndromeEnrichmentPTCH11.46
212Protein-losing enteropathyEnrichmentCD551.46
213Monostotic fibrous dysplasiaEnrichmentGNAS1.46
214Monosomy 9q22.3EnrichmentPTCH11.46
215Chondromyxoid fibromaEnrichmentGRM11.46
216Mazabraud syndromeEnrichmentGNAS1.46
217Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndromeEnrichmentSHH1.46
218Hypothyroidism, congenital, nongoitrous, 2EnrichmentTSHR1.42
219Waardenburg syndrome, type 2eEnrichmentEDNRB1.42
220Bleeding disorder, platelet-type, 8EnrichmentP2RY121.42
221Obsessive-compulsive disorderEnrichmentHTR2A1.42
222Neuropathy, congenital hypomyelinating, 2EnrichmentRHO1.42
223Optic disk drusenEnrichmentRHO1.42
224Attention deficit-hyperactivity disorderEnrichmentDRD4, DRD5, GNB51.41
225Myopathy, tubular aggregate, 1EnrichmentOXTR1.36
226Congenital stationary night blindnessEnrichmentGNB3, GRM6, RHO1.36
227Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentPROKR21.35
228Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC1.35
229Precocious puberty, central, 2EnrichmentKISS1R1.35
230Genetic atypical hemolytic-uremic syndromeEnrichmentC31.35
231Cerebral sinovenous thrombosisEnrichmentF21.35
232Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC1.35
233Hypogonadotropic hypogonadism 24 with or without anosmiaEnrichmentFSHB1.31
234Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentFFAR41.31
235Progressive retinal dystrophy due to retinol transport defectEnrichmentFFAR41.31
236MelanomaEnrichmentMC1R1.27
237Prune belly syndromeEnrichmentCHRM31.25
238Asthma, nasal polyps, and aspirin intoleranceEnrichmentPTGER21.25
239Woolly hair, autosomal recessive 3EnrichmentLPAR61.25
240Nizon-isidor syndromeEnrichmentP2RY121.25
241Hypotrichosis 8EnrichmentLPAR61.25
242Microcephaly 17, primary, autosomal recessiveEnrichmentRHO1.25
243Krabbe diseaseEnrichmentPSAP1.23
244Auriculocondylar syndrome 1EnrichmentEDN11.23
245Diabetes insipidusEnrichmentAVP1.23
246Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentKNG11.23
247Septooptic dysplasiaEnrichmentPROKR2, SHH1.20
248Congenital hypothyroidismEnrichmentTSHR1.19
24946 xx gonadal dysgenesisEnrichmentFSHR1.19
250Failure of tooth eruption, primaryEnrichmentPTH1R1.17
251Hypoparathyroidism, familial isolated, 1EnrichmentPTH1.17
252Pseudohypoparathyroidism, type iaEnrichmentGNAS1.17
253Tooth agenesis, selective, 4EnrichmentWNT10A1.17
254Metaphyseal chondrodysplasia, jansen typeEnrichmentPTH1R1.17
255Pallister-hall-like syndromeEnrichmentSMO1.17
256Schopf-schulz-passarge syndromeEnrichmentWNT10A1.17
257Chondrodysplasia, blomstrand typeEnrichmentPTH1R1.17
258Hyperparathyroidism, neonatal severeEnrichmentCASR1.17
259Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.17
260Bladder exstrophy and epispadias complexEnrichmentWNT31.17
261Odontoonychodermal dysplasiaEnrichmentWNT10A1.17
26246,xy gonadal dysgenesis with minifascicular neuropathyEnrichmentDHH1.17
263Eiken syndromeEnrichmentPTH1R1.17
264Tetraamelia syndrome 1EnrichmentWNT31.17
265Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.17
266PseudopseudohypoparathyroidismEnrichmentGNAS1.17
267Osteogenesis imperfecta, type xvEnrichmentWNT11.17
268Solitary median maxillary central incisorEnrichmentSHH1.17
269Robinow syndrome, autosomal dominant 3EnrichmentFZD21.17
270Night blindness, congenital stationary, type 1hEnrichmentGNB31.17
271Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.17
272Autosomal dominant hypocalcemiaEnrichmentCASR1.17
273Lymphatic malformation 8EnrichmentCALCRL1.17
274Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.17
275Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.17
276Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.17
277Isolated radial hemimeliaEnrichmentSHH1.17
278Commissural facial cleftEnrichmentPTCH21.17
279Cerebral visual impairmentEnrichmentGNB11.17
280Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPROKR21.14
281Congenital disorder of glycosylation, type idEnrichmentEEF1AKMT4-ECE21.14
282Narcolepsy 2EnrichmentHCRT1.14
283OsteoporosisEnrichmentCALCR, WNT11.08
284MedulloblastomaEnrichmentPTCH1, PTCH21.08
285Perrault syndrome 1EnrichmentFSHR1.07
286Metachromatic leukodystrophyEnrichmentPSAP1.06
287Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentC31.06
288Melanoma, cutaneous malignant 1EnrichmentMC1R1.05
289Retinal detachmentEnrichmentRHO1.03
290Major depressive disorderEnrichmentHTR2A1.03
291Cholangitis, primary sclerosingEnrichmentGPR351.03
292Familial woolly hair syndromeEnrichmentLPAR61.03
293Night blindnessEnrichmentRHO1.03
294Septopreoptic holoprosencephalyEnrichmentPTCH1, SHH1.03
295Midline interhemispheric variant of holoprosencephalyEnrichmentPTCH1, SHH1.03
296Behcet syndromeEnrichmentCCR11.00
297Thrombophilia due to thrombin defectEnrichmentF21.00
298Alzheimer's disease 1EnrichmentAPP1.00
299Immunodeficiency due to a late component of complement deficiencyEnrichmentC51.00
300Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP1.00
301Brachydactyly, type a1EnrichmentIHH1.00
302Mccune-albright syndromeEnrichmentGNAS1.00
303Syndactyly, type ivEnrichmentSHH1.00
304Night blindness, congenital stationary, type 1bEnrichmentGRM61.00
305Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.00
306Microphthalmia, syndromic 9EnrichmentWNT7B1.00
307Tooth agenesis, selective, 2EnrichmentWNT10A1.00
308Holoprosencephaly 7EnrichmentPTCH11.00
309Isolated growth hormone deficiency, type ibEnrichmentGHRHR1.00
310Nail diseaseEnrichmentFZD61.00
311Hypoplastic or aplastic tibia with polydactylyEnrichmentSHH1.00
312Parathyroid adenomaEnrichmentCASR1.00
313Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.00
314Tetraamelia syndromeEnrichmentWNT31.00
315Mpv17-related mitochondrial dna maintenance defectEnrichmentUCN1.00
316Microform holoprosencephalyEnrichmentPTCH1, SHH0.98
317Lobar holoprosencephalyEnrichmentPTCH1, SHH0.98
318Melanoma, uvealEnrichmentCYSLTR20.96
319Dystonia 11, myoclonicEnrichmentDRD20.96
320Familial adult myoclonic epilepsyEnrichmentADRA2B0.96
321CryptorchidismEnrichmentINSL30.94
322Alobar holoprosencephalyEnrichmentPTCH1, SHH0.94
323MalariaEnrichmentACKR10.92
324Cardiomyopathy, familial hypertrophic, 1EnrichmentOXTR0.90
325Congenital central hypoventilation syndromeEnrichmentEDN30.90
326Fundus albipunctatusEnrichmentRHO0.90
327Amelogenesis imperfecta type 2EnrichmentGPR680.90
328Semilobar holoprosencephalyEnrichmentPTCH1, SHH0.89
329Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A0.88
330Mitochondrial dna depletion syndrome 6EnrichmentUCN0.88
331SchizencephalyEnrichmentSHH0.88
332Spastic paraplegia 17, autosomal dominantEnrichmentGNG30.88
333Pseudohypoparathyroidism, type ibEnrichmentGNAS0.88
334Lipodystrophy, congenital generalized, type 2EnrichmentGNG30.88
335Bone mineral density quantitative trait locus 15EnrichmentCALCR0.88
336Tobacco addictionEnrichmentGABBR20.88
337Charcot-marie-tooth disease, axonal, type 2eeEnrichmentUCN0.88
338Ectodermal dysplasiaEnrichmentWNT10A0.88
339Retinopathy of prematurityEnrichmentFZD40.88
340Eyelid colobomaEnrichmentFZD50.88
341Lens colobomaEnrichmentFZD50.88
342Familial sick sinus syndromeEnrichmentGNB20.88
343Stroke, ischemicEnrichmentF20.85
344Albinism, ocular, type iEnrichmentGPR1430.85
345AlbinismEnrichmentGPR1430.85
346Cone-rod dystrophy 2EnrichmentOPN1LW, OPN1MW, RHO0.85
347Essential tremorEnrichmentDRD30.84
348AsthmaEnrichmentCCL110.82
349Long qt syndromeEnrichmentOXTR0.80
350Hypotrichosis simplexEnrichmentLPAR60.79
351Enchondromatosis, multiple, ollier typeEnrichmentPTH1R0.79
352Exudative vitreoretinopathy 1EnrichmentFZD40.79
353Norrie diseaseEnrichmentFZD40.79
354Night blindness, congenital stationary, type 1cEnrichmentGRM60.79
355Robinow syndrome, autosomal dominant 2EnrichmentFZD20.79
356Persistent hyperplastic primary vitreousEnrichmentFZD40.79
357Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A0.79
358Coloboma of choroid and retinaEnrichmentFZD50.79
359Cystic fibrosisEnrichmentEDNRA0.79
360Familial hypertrophic cardiomyopathyEnrichmentOXTR0.78
361MicrophthalmiaEnrichmentPTCH1, WNT7B0.75
362Tooth agenesisEnrichmentWNT10A, WNT10B0.75
363AchromatopsiaEnrichmentOPN1MW0.75
364Alzheimer's diseaseEnrichmentAPP0.75
365Non-syndromic x-linked intellectual disabilityEnrichmentAGTR20.74
366Coloboma of optic nerveEnrichmentFZD50.72
367Alcohol dependenceEnrichmentTAS2R160.72
368Renal dysplasia, cysticEnrichmentWNT9B0.72
369Renal hypoplasiaEnrichmentWNT9B0.72
370DiarrheaEnrichmentWNT2B0.72
371Multicystic kidney dysplasiaEnrichmentFZD30.72
372Multicystic dysplastic kidneyEnrichmentFZD30.72
373EpilepsyEnrichmentTSHR0.70
374Atypical hemolytic-uremic syndromeEnrichmentC30.69
375Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPROK2, PROKR20.69
376Rett syndromeEnrichmentGABBR20.66
377BrachydactylyEnrichmentGNAS0.66
378Autosomal dominant sleep-related hypermotor epilepsyEnrichmentCRH0.66
379Congenital hydrocephalusEnrichmentPTCH10.66
380Overgrowth syndromeEnrichmentPTCH10.66
381Amelogenesis imperfectaEnrichmentGPR680.65
382Alzheimer disease, familial, 1EnrichmentAPP0.65
383CataractEnrichmentRHO0.62
384Spastic paraplegia 4, autosomal dominantEnrichmentGNAS0.61
385Renal hypodysplasia/aplasia 1EnrichmentWNT9B0.61
386Rett syndrome, congenital variantEnrichmentGABBR20.61
387Exudative vitreoretinopathyEnrichmentFZD40.61
388HypothyroidismEnrichmentGNB10.61
389Isolated split hand-split foot malformationEnrichmentWNT10B0.61
390Parkinson's diseaseEnrichmentPSAP0.60
391Neurofibromatosis, type iEnrichmentGABBR10.57
392Primary hyperaldosteronismEnrichmentGNAS0.57
393Renal agenesis, bilateralEnrichmentWNT9B0.57
394Non-immune hydrops fetalisEnrichmentCALCRL, FZD60.53
395Deafness, autosomal recessiveEnrichmentEDNRB0.53
396Cat eye syndromeEnrichmentFZD50.53
397Autosomal recessive nonsyndromic deafnessEnrichmentEDNRB0.52
398Parkinson disease, late-onsetEnrichmentPSAP0.52
399SchizophreniaEnrichmentDRD3, HTR2A0.50
400Leukemia, acute lymphoblasticEnrichmentGNB10.49
401Myelodysplastic syndromeEnrichmentGNB10.49
40246,xy complete gonadal dysgenesisEnrichmentDHH0.49
403MeningiomaEnrichmentSMO0.46
404Rare genetic deafnessEnrichmentEDNRB0.45
405Microphthalmia/coloboma 12EnrichmentFZD50.43
406Osteogenesis imperfecta, type ivEnrichmentWNT10.43
407Chronic kidney diseaseEnrichmentWNT9B0.43
408Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentEDNRB0.41
409Cerebral palsyEnrichmentF2, GNB10.41
410Coloboma of maculaEnrichmentFZD50.39
411Polydactyly, postaxial, type a1EnrichmentPTCH10.39
412Osteogenesis imperfecta, type iiiEnrichmentWNT10.39
413HydrocephalusEnrichmentFZD30.39
414Ovarian cancerEnrichmentTSHR0.37
415Differentiated thyroid carcinomaEnrichmentLPAR40.37
416RhabdomyosarcomaEnrichmentPTCH10.37
417Pancreatitis, hereditaryEnrichmentCASR0.35
418Cleft palate, isolatedEnrichmentGNB10.35
419Syndromic intellectual disabilityEnrichmentPTH2R0.35
420Autism spectrum disorderEnrichmentTACR30.34
421Early infantile developmental and epileptic encephalopathyEnrichmentGRM70.33
422Sensorineural hearing lossEnrichmentEDN30.29
423Autosomal dominant non-syndromic intellectual disabilityEnrichmentGABBR1, GNB10.28
424Brittle bone disorderEnrichmentWNT10.26
425Type 2 diabetes mellitusEnrichmentMTNR1B0.25
426Hydrops fetalis, nonimmuneEnrichmentFZD60.22
427ThrombocytopeniaEnrichmentP2RY120.22
428StrabismusEnrichmentGNB10.21
429DystoniaEnrichmentGNB10.15
430Breast cancerEnrichmentGNG3, PTCH20.13
431Distal arthrogryposisEnrichmentFZD30.11
432Hypertrophic cardiomyopathyEnrichmentCASR0.11
433Hereditary breast ovarian cancer syndromeEnrichmentPTCH10.07
434Undetermined early-onset epileptic encephalopathyEnrichmentGABBR20.06
435Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRM70.06
436AutismEnrichmentSHH0.04
437MicrocephalyEnrichmentGNB1, GRM70.03
438Colorectal cancerEnrichmentFZD30.02
439Leber plus diseaseEnrichmentGRM60.02
440Retinitis pigmentosaEnrichmentRGR, RHO0.01
441Congenital nervous system abnormalityEnrichmentGNB50.01
442Nervous system diseaseEnrichmentGNB50.01
443Complex neurodevelopmental disorderEnrichmentGNB20.01
444Inherited cancer-predisposing syndromeEnrichmentPTCH10.00
445Hereditary retinal dystrophyEnrichmentFZD4, GRM6, RGR, RHO0.00
446Fundus dystrophyEnrichmentFZD4, GRM6, RGR, RHO0.00

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